| 405662082 | CV3297190 | single nucleotide variant | NM_024536.6(CHPF):c.43C>A (p.Pro15Thr) | not specified [RCV004439387] | uncertain significance | 2 | 219543496 | 219543496 | Human | | name |
| 407455590 | CV3422781 | single nucleotide variant | NM_024536.6(CHPF):c.29T>G (p.Leu10Arg) | not specified [RCV004610409] | uncertain significance | 2 | 219543510 | 219543510 | Human | | name |
| 156248634 | CV2222018 | single nucleotide variant | NM_024536.6(CHPF):c.170A>G (p.Asn57Ser) | not specified [RCV004103007] | uncertain significance | 2 | 219543369 | 219543369 | Human | | name |
| 405662077 | CV3297188 | single nucleotide variant | NM_024536.6(CHPF):c.229G>C (p.Gly77Arg) | not specified [RCV004439385] | uncertain significance | 2 | 219543310 | 219543310 | Human | | name |
| 597770002 | CV3653243 | single nucleotide variant | NM_024536.6(CHPF):c.182G>C (p.Arg61Pro) | not specified [RCV004896845] | uncertain significance | 2 | 219543357 | 219543357 | Human | | name |
| 15153496 | CV708069 | single nucleotide variant | NM_024536.6(CHPF):c.2097G>A (p.Glu699=) | not provided [RCV000968554] | benign | 2 | 219539614 | 219539614 | Human | | name |
| 15183746 | CV708070 | single nucleotide variant | NM_024536.6(CHPF):c.142T>C (p.Ser48Pro) | not provided [RCV000974948] | benign | 2 | 219543397 | 219543397 | Human | | name |
| 156051889 | CV2328985 | single nucleotide variant | NM_024536.6(CHPF):c.707A>G (p.Glu236Gly) | not specified [RCV004180277] | uncertain significance | 2 | 219541797 | 219541797 | Human | | name |
| 401860235 | CV2768522 | single nucleotide variant | NM_024536.6(CHPF):c.947C>T (p.Pro316Leu) | not specified [RCV004344400] | likely benign | 2 | 219541067 | 219541067 | Human | | name |
| 405662079 | CV3297189 | single nucleotide variant | NM_024536.6(CHPF):c.409G>T (p.Val137Leu) | not specified [RCV004439386] | uncertain significance | 2 | 219542095 | 219542095 | Human | | name |
| 405662085 | CV3297191 | single nucleotide variant | NM_024536.6(CHPF):c.668A>G (p.His223Arg) | not specified [RCV004439388] | uncertain significance | 2 | 219541836 | 219541836 | Human | | name |
| 405662087 | CV3297192 | single nucleotide variant | NM_024536.6(CHPF):c.715C>G (p.Pro239Ala) | not specified [RCV004439389] | uncertain significance | 2 | 219541789 | 219541789 | Human | | name |
| 407455585 | CV3422779 | single nucleotide variant | NM_024536.6(CHPF):c.640G>C (p.Gly214Arg) | not specified [RCV004610407] | uncertain significance | 2 | 219541864 | 219541864 | Human | | name |
| 407455593 | CV3422782 | single nucleotide variant | NM_024536.6(CHPF):c.956G>A (p.Arg319Gln) | not specified [RCV004610410] | uncertain significance | 2 | 219541058 | 219541058 | Human | | name |
| 407455596 | CV3422783 | single nucleotide variant | NM_024536.6(CHPF):c.521T>C (p.Ile174Thr) | not specified [RCV004610411] | uncertain significance | 2 | 219541983 | 219541983 | Human | | name |
| 597769997 | CV3653242 | single nucleotide variant | NM_024536.6(CHPF):c.853G>A (p.Asp285Asn) | not specified [RCV004896844] | uncertain significance | 2 | 219541651 | 219541651 | Human | | name |
| 597770010 | CV3653245 | single nucleotide variant | NM_024536.6(CHPF):c.857C>T (p.Ala286Val) | not specified [RCV004896847] | uncertain significance | 2 | 219541647 | 219541647 | Human | | name |
| 597770020 | CV3653247 | single nucleotide variant | NM_024536.6(CHPF):c.718G>A (p.Gly240Ser) | not specified [RCV004896849] | uncertain significance | 2 | 219541786 | 219541786 | Human | | name |
| 156263686 | CV2201185 | single nucleotide variant | NM_024536.6(CHPF):c.1129G>A (p.Val377Met) | not specified [RCV004077332] | uncertain significance | 2 | 219540582 | 219540582 | Human | | name |
| 156381426 | CV2214940 | single nucleotide variant | NM_024536.6(CHPF):c.1021G>A (p.Ala341Thr) | not specified [RCV004084724] | uncertain significance | 2 | 219540993 | 219540993 | Human | | name |
| 155939188 | CV2225373 | single nucleotide variant | NM_024536.6(CHPF):c.1843G>A (p.Gly615Arg) | not specified [RCV004100790] | uncertain significance | 2 | 219539868 | 219539868 | Human | | name |
| 156382259 | CV2227267 | single nucleotide variant | NM_024536.6(CHPF):c.1448G>A (p.Arg483His) | not specified [RCV004091836] | uncertain significance | 2 | 219540263 | 219540263 | Human | | name |
| 156250200 | CV2232144 | single nucleotide variant | NM_024536.6(CHPF):c.2092G>A (p.Glu698Lys) | not specified [RCV004104955] | uncertain significance | 2 | 219539619 | 219539619 | Human | | name |
| 156065444 | CV2240295 | single nucleotide variant | NM_024536.6(CHPF):c.1693C>T (p.Pro565Ser) | not specified [RCV004112854] | uncertain significance | 2 | 219540018 | 219540018 | Human | | name |
| 156105632 | CV2257216 | single nucleotide variant | NM_024536.6(CHPF):c.1911G>C (p.Gln637His) | not specified [RCV004123424] | uncertain significance | 2 | 219539800 | 219539800 | Human | | name |
| 155925918 | CV2258653 | single nucleotide variant | NM_024536.6(CHPF):c.1433G>A (p.Arg478His) | not specified [RCV004117907] | uncertain significance | 2 | 219540278 | 219540278 | Human | | name |
| 155973528 | CV2269846 | single nucleotide variant | NM_024536.6(CHPF):c.1742G>A (p.Arg581Gln) | not specified [RCV004127078] | uncertain significance | 2 | 219539969 | 219539969 | Human | | name |
| 156251157 | CV2286807 | single nucleotide variant | NM_024536.6(CHPF):c.1616C>T (p.Ala539Val) | not specified [RCV004142610] | uncertain significance | 2 | 219540095 | 219540095 | Human | | name |
| 155943050 | CV2298423 | single nucleotide variant | NM_024536.6(CHPF):c.1028C>G (p.Ala343Gly) | not specified [RCV004162096] | uncertain significance | 2 | 219540986 | 219540986 | Human | | name |
| 156157115 | CV2359920 | single nucleotide variant | NM_024536.6(CHPF):c.1520G>A (p.Arg507His) | not specified [RCV004212766] | uncertain significance | 2 | 219540191 | 219540191 | Human | | name |
| 156336174 | CV2360689 | single nucleotide variant | NM_024536.6(CHPF):c.2098G>A (p.Glu700Lys) | not specified [RCV004213482] | uncertain significance | 2 | 219539613 | 219539613 | Human | | name |
| 155910721 | CV2366612 | single nucleotide variant | NM_024536.6(CHPF):c.1270G>A (p.Asp424Asn) | not specified [RCV004210626] | uncertain significance | 2 | 219540441 | 219540441 | Human | | name |
| 156256775 | CV2368773 | single nucleotide variant | NM_024536.6(CHPF):c.1556G>A (p.Arg519His) | not specified [RCV004214650] | uncertain significance | 2 | 219540155 | 219540155 | Human | | name |
| 155929305 | CV2369708 | single nucleotide variant | NM_024536.6(CHPF):c.2314G>A (p.Gly772Ser) | not specified [RCV004215107] | uncertain significance | 2 | 219539397 | 219539397 | Human | | name |
| 156389055 | CV2376340 | single nucleotide variant | NM_024536.6(CHPF):c.1292A>G (p.Glu431Gly) | not specified [RCV004222600] | uncertain significance | 2 | 219540419 | 219540419 | Human | | name |
| 156205976 | CV2385272 | single nucleotide variant | NM_024536.6(CHPF):c.2189G>A (p.Arg730His) | not specified [RCV004228513] | uncertain significance | 2 | 219539522 | 219539522 | Human | | name |
| 156254749 | CV2397578 | single nucleotide variant | NM_024536.6(CHPF):c.2092G>C (p.Glu698Gln) | not specified [RCV004237039] | uncertain significance | 2 | 219539619 | 219539619 | Human | | name |
| 329376198 | CV2431763 | single nucleotide variant | NM_024536.6(CHPF):c.1073A>G (p.Glu358Gly) | not specified [RCV004248924] | uncertain significance | 2 | 219540638 | 219540638 | Human | | name |
| 329354003 | CV2436761 | single nucleotide variant | NM_024536.6(CHPF):c.1727G>A (p.Arg576His) | not specified [RCV004260171] | uncertain significance | 2 | 219539984 | 219539984 | Human | | name |
| 329389143 | CV2448763 | single nucleotide variant | NM_024536.6(CHPF):c.1667G>A (p.Arg556His) | not specified [RCV004261460] | uncertain significance | 2 | 219540044 | 219540044 | Human | | name |
| 329379043 | CV2460123 | single nucleotide variant | NM_024536.6(CHPF):c.1465C>T (p.Arg489Trp) | not specified [RCV004273232] | uncertain significance | 2 | 219540246 | 219540246 | Human | | name |
| 401751734 | CV2672559 | single nucleotide variant | NM_024536.6(CHPF):c.2086G>C (p.Glu696Gln) | not specified [RCV004287592] | uncertain significance | 2 | 219539625 | 219539625 | Human | | name |
| 401743505 | CV2674681 | single nucleotide variant | NM_024536.6(CHPF):c.1694C>T (p.Pro565Leu) | not specified [RCV004293974] | uncertain significance | 2 | 219540017 | 219540017 | Human | | name |
| 401768962 | CV2686450 | single nucleotide variant | NM_024536.6(CHPF):c.2212G>A (p.Ala738Thr) | not specified [RCV004290608] | uncertain significance | 2 | 219539499 | 219539499 | Human | | name |
| 401728823 | CV2693855 | single nucleotide variant | NM_024536.6(CHPF):c.1447C>T (p.Arg483Cys) | not specified [RCV004300161] | uncertain significance | 2 | 219540264 | 219540264 | Human | | name |
| 401893041 | CV2758417 | single nucleotide variant | NM_024536.6(CHPF):c.1880G>A (p.Arg627His) | not specified [RCV004335074] | uncertain significance | 2 | 219539831 | 219539831 | Human | | name |
| 401893072 | CV2762806 | single nucleotide variant | NM_024536.6(CHPF):c.1058A>G (p.Gln353Arg) | not specified [RCV004340357] | uncertain significance | 2 | 219540956 | 219540956 | Human | | name |
| 401870700 | CV2766275 | single nucleotide variant | NM_024536.6(CHPF):c.1654C>T (p.Arg552Cys) | not specified [RCV004342531] | uncertain significance | 2 | 219540057 | 219540057 | Human | | name |
| 401868193 | CV2767166 | single nucleotide variant | NM_024536.6(CHPF):c.1478G>A (p.Arg493His) | not specified [RCV004347562] | uncertain significance | 2 | 219540233 | 219540233 | Human | | name |
| 401872661 | CV2779848 | single nucleotide variant | NM_024536.6(CHPF):c.1025G>A (p.Arg342Gln) | not specified [RCV004353468] | uncertain significance | 2 | 219540989 | 219540989 | Human | | name |
| 401888384 | CV2788431 | single nucleotide variant | NM_024536.6(CHPF):c.2131T>A (p.Phe711Ile) | not specified [RCV004354957] | uncertain significance | 2 | 219539580 | 219539580 | Human | | name |
| 405662031 | CV3297173 | single nucleotide variant | NM_024536.6(CHPF):c.1178G>A (p.Arg393His) | not specified [RCV004439370] | uncertain significance | 2 | 219540533 | 219540533 | Human | | name |
| 405662035 | CV3297174 | single nucleotide variant | NM_024536.6(CHPF):c.1232G>A (p.Arg411His) | not specified [RCV004439371] | uncertain significance | 2 | 219540479 | 219540479 | Human | | name |
| 405662037 | CV3297175 | single nucleotide variant | NM_024536.6(CHPF):c.1324C>T (p.Arg442Trp) | not specified [RCV004439372] | uncertain significance | 2 | 219540387 | 219540387 | Human | | name |
| 405662047 | CV3297178 | single nucleotide variant | NM_024536.6(CHPF):c.1926G>A (p.Met642Ile) | not specified [RCV004439375] | uncertain significance | 2 | 219539785 | 219539785 | Human | | name |
| 405662050 | CV3297179 | single nucleotide variant | NM_024536.6(CHPF):c.2026G>A (p.Glu676Lys) | not specified [RCV004439376] | uncertain significance | 2 | 219539685 | 219539685 | Human | | name |
| 405662057 | CV3297181 | single nucleotide variant | NM_024536.6(CHPF):c.2095G>C (p.Glu699Gln) | not specified [RCV004439378] | uncertain significance | 2 | 219539616 | 219539616 | Human | | name |
| 405662060 | CV3297182 | single nucleotide variant | NM_024536.6(CHPF):c.2099A>T (p.Glu700Val) | not specified [RCV004439379] | uncertain significance | 2 | 219539612 | 219539612 | Human | | name |
| 405662063 | CV3297183 | single nucleotide variant | NM_024536.6(CHPF):c.2134C>T (p.Leu712Phe) | not specified [RCV004439380] | uncertain significance | 2 | 219539577 | 219539577 | Human | | name |
| 405662064 | CV3297184 | single nucleotide variant | NM_024536.6(CHPF):c.2146A>G (p.Ser716Gly) | not specified [RCV004439381] | likely benign | 2 | 219539565 | 219539565 | Human | | name |
| 405662067 | CV3297185 | single nucleotide variant | NM_024536.6(CHPF):c.2165C>T (p.Ala722Val) | not specified [RCV004439382] | uncertain significance | 2 | 219539546 | 219539546 | Human | | name |
| 405662073 | CV3297187 | single nucleotide variant | NM_024536.6(CHPF):c.2279C>A (p.Thr760Asn) | not specified [RCV004439384] | uncertain significance | 2 | 219539432 | 219539432 | Human | | name |
| 407455583 | CV3422778 | single nucleotide variant | NM_024536.6(CHPF):c.1946C>G (p.Pro649Arg) | not specified [RCV004610406] | uncertain significance | 2 | 219539765 | 219539765 | Human | | name |
| 407455598 | CV3422784 | single nucleotide variant | NM_024536.6(CHPF):c.1612G>A (p.Asp538Asn) | not specified [RCV004610412] | uncertain significance | 2 | 219540099 | 219540099 | Human | | name |
| 407455600 | CV3422785 | single nucleotide variant | NM_024536.6(CHPF):c.2194C>T (p.Arg732Trp) | not specified [RCV004610413] | uncertain significance | 2 | 219539517 | 219539517 | Human | | name |
| 407455603 | CV3422786 | single nucleotide variant | NM_024536.6(CHPF):c.2221A>G (p.Ser741Gly) | not specified [RCV004610414] | uncertain significance | 2 | 219539490 | 219539490 | Human | | name |
| 407455606 | CV3422787 | single nucleotide variant | NM_024536.6(CHPF):c.2234A>C (p.Tyr745Ser) | not specified [RCV004610415] | uncertain significance | 2 | 219539477 | 219539477 | Human | | name |
| 597770365 | CV3653240 | single nucleotide variant | NM_024536.6(CHPF):c.1099G>A (p.Val367Ile) | not specified [RCV004896842] | likely benign | 2 | 219540612 | 219540612 | Human | | name |
| 597770007 | CV3653244 | single nucleotide variant | NM_024536.6(CHPF):c.2240G>A (p.Arg747His) | not specified [RCV004896846] | uncertain significance | 2 | 219539471 | 219539471 | Human | | name |
| 597770016 | CV3653246 | single nucleotide variant | NM_024536.6(CHPF):c.1853C>T (p.Thr618Met) | not specified [RCV004896848] | uncertain significance | 2 | 219539858 | 219539858 | Human | | name |
| 597770025 | CV3653248 | single nucleotide variant | NM_024536.6(CHPF):c.1886G>A (p.Arg629His) | not specified [RCV004896850] | uncertain significance | 2 | 219539825 | 219539825 | Human | | name |
| 598214924 | CV3951671 | single nucleotide variant | NM_024536.6(CHPF):c.1525A>G (p.Thr509Ala) | not specified [RCV005316657] | uncertain significance | 2 | 219540186 | 219540186 | Human | | name |
| 598214932 | CV3951672 | single nucleotide variant | NM_024536.6(CHPF):c.2276G>A (p.Arg759Gln) | not specified [RCV005316658] | uncertain significance | 2 | 219539435 | 219539435 | Human | | name |
| 598214936 | CV3951673 | single nucleotide variant | NM_024536.6(CHPF):c.1151G>A (p.Arg384His) | not specified [RCV005316659] | uncertain significance | 2 | 219540560 | 219540560 | Human | | name |
| 598214943 | CV3951674 | single nucleotide variant | NM_024536.6(CHPF):c.1306C>T (p.Arg436Cys) | not specified [RCV005316660] | uncertain significance | 2 | 219540405 | 219540405 | Human | | name |
| 598214956 | CV3951676 | single nucleotide variant | NM_024536.6(CHPF):c.1775C>G (p.Pro592Arg) | not specified [RCV005316662] | uncertain significance | 2 | 219539936 | 219539936 | Human | | name |
| 598214963 | CV3951677 | single nucleotide variant | NM_024536.6(CHPF):c.2053G>C (p.Val685Leu) | not specified [RCV005316663] | uncertain significance | 2 | 219539658 | 219539658 | Human | | name |
| 598264395 | CV3951678 | single nucleotide variant | NM_024536.6(CHPF):c.1184A>G (p.Asp395Gly) | not specified [RCV005326121] | uncertain significance | 2 | 219540527 | 219540527 | Human | | name |
| 598214969 | CV3951679 | single nucleotide variant | NM_024536.6(CHPF):c.1024C>G (p.Arg342Gly) | not specified [RCV005316664] | uncertain significance | 2 | 219540990 | 219540990 | Human | | name |
| 598214975 | CV3951680 | single nucleotide variant | NM_024536.6(CHPF):c.2240G>T (p.Arg747Leu) | not specified [RCV005316665] | uncertain significance | 2 | 219539471 | 219539471 | Human | | name |
| 155976284 | CV2338582 | single nucleotide variant | NM_019015.3(CHPF2):c.5G>A (p.Arg2Gln) | not specified [RCV004182174] | uncertain significance | 7 | 151234016 | 151234016 | Human | | name |
| 401923934 | CV2823354 | single nucleotide variant | NM_019015.3(CHPF2):c.246C>T (p.Pro82=) | not provided [RCV003435308] | likely benign | 7 | 151234257 | 151234257 | Human | | name |
| 401923932 | CV2823355 | single nucleotide variant | NM_019015.3(CHPF2):c.909C>T (p.Phe303=) | not provided [RCV003435309] | likely benign | 7 | 151236488 | 151236488 | Human | | name |
| 407455614 | CV3422791 | single nucleotide variant | NM_019015.3(CHPF2):c.35C>A (p.Pro12Gln) | not specified [RCV004610419] | uncertain significance | 7 | 151234046 | 151234046 | Human | | name |
| 329358167 | CV2453920 | single nucleotide variant | NM_019015.3(CHPF2):c.137T>C (p.Val46Ala) | not specified [RCV004271305] | uncertain significance | 7 | 151234148 | 151234148 | Human | | name |
| 401719965 | CV2705589 | single nucleotide variant | NM_019015.3(CHPF2):c.175G>A (p.Ala59Thr) | not specified [RCV004318453] | likely benign | 7 | 151234186 | 151234186 | Human | | name |
| 401772746 | CV2712888 | single nucleotide variant | NM_019015.3(CHPF2):c.295C>T (p.Arg99Cys) | not specified [RCV004314294] | uncertain significance | 7 | 151235079 | 151235079 | Human | | name |
| 401888832 | CV2764971 | single nucleotide variant | NM_019015.3(CHPF2):c.130G>C (p.Glu44Gln) | not specified [RCV004335050] | uncertain significance | 7 | 151234141 | 151234141 | Human | | name |
| 401909147 | CV2823356 | single nucleotide variant | NM_019015.3(CHPF2):c.1221G>A (p.Leu407=) | not provided [RCV003423836] | likely benign | 7 | 151237583 | 151237583 | Human | | name |
| 405662114 | CV3297201 | single nucleotide variant | NM_019015.3(CHPF2):c.178C>T (p.Arg60Trp) | not specified [RCV004439398] | uncertain significance | 7 | 151234189 | 151234189 | Human | | name |
| 407455607 | CV3422788 | single nucleotide variant | NM_019015.3(CHPF2):c.240C>A (p.Asn80Lys) | not specified [RCV004610416] | uncertain significance | 7 | 151234251 | 151234251 | Human | | name |
| 597770044 | CV3653252 | single nucleotide variant | NM_019015.3(CHPF2):c.268C>T (p.Arg90Trp) | not specified [RCV004896854] | uncertain significance | 7 | 151235052 | 151235052 | Human | | name |
| 597770370 | CV3653267 | single nucleotide variant | NM_019015.3(CHPF2):c.211C>T (p.Arg71Trp) | not specified [RCV004896868] | uncertain significance | 7 | 151234222 | 151234222 | Human | | name |
| 598264404 | CV3951685 | single nucleotide variant | NM_019015.3(CHPF2):c.221C>T (p.Pro74Leu) | not specified [RCV005326123] | uncertain significance | 7 | 151234232 | 151234232 | Human | | name |
| 156316938 | CV2193127 | single nucleotide variant | NM_019015.3(CHPF2):c.661C>T (p.Arg221Trp) | not specified [RCV004071130] | uncertain significance | 7 | 151235445 | 151235445 | Human | | name |
| 156397939 | CV2193989 | single nucleotide variant | NM_019015.3(CHPF2):c.808G>A (p.Gly270Ser) | not specified [RCV004074712] | uncertain significance | 7 | 151235592 | 151235592 | Human | | name |
| 156033786 | CV2211620 | single nucleotide variant | NM_019015.3(CHPF2):c.340T>C (p.Ser114Pro) | not specified [RCV004084514] | uncertain significance | 7 | 151235124 | 151235124 | Human | | name |
| 156224933 | CV2229932 | single nucleotide variant | NM_019015.3(CHPF2):c.668G>C (p.Cys223Ser) | not specified [RCV004105473] | uncertain significance | 7 | 151235452 | 151235452 | Human | | name |
| 156079579 | CV2248547 | single nucleotide variant | NM_019015.3(CHPF2):c.531G>T (p.Trp177Cys) | not specified [RCV004119671] | uncertain significance | 7 | 151235315 | 151235315 | Human | | name |
| 156038666 | CV2313662 | single nucleotide variant | NM_019015.3(CHPF2):c.569C>T (p.Pro190Leu) | not specified [RCV004157593] | uncertain significance | 7 | 151235353 | 151235353 | Human | | name |
| 156079111 | CV2341233 | single nucleotide variant | NM_019015.3(CHPF2):c.641T>C (p.Ile214Thr) | not specified [RCV004186647] | uncertain significance | 7 | 151235425 | 151235425 | Human | | name |
| 156169608 | CV2354801 | single nucleotide variant | NM_019015.3(CHPF2):c.511T>G (p.Phe171Val) | not specified [RCV004198328] | uncertain significance | 7 | 151235295 | 151235295 | Human | | name |
| 156393009 | CV2385567 | single nucleotide variant | NM_019015.3(CHPF2):c.652G>A (p.Glu218Lys) | not specified [RCV004233206] | uncertain significance | 7 | 151235436 | 151235436 | Human | | name |
| 156320190 | CV2400320 | single nucleotide variant | NM_019015.3(CHPF2):c.662G>A (p.Arg221Gln) | not specified [RCV004244379] | uncertain significance | 7 | 151235446 | 151235446 | Human | | name |
| 329373845 | CV2447436 | single nucleotide variant | NM_019015.3(CHPF2):c.866G>C (p.Arg289Thr) | not specified [RCV004262710] | uncertain significance | 7 | 151236445 | 151236445 | Human | | name |
| 401746535 | CV2678861 | single nucleotide variant | NM_019015.3(CHPF2):c.781C>T (p.Arg261Cys) | not specified [RCV004292839] | uncertain significance | 7 | 151235565 | 151235565 | Human | | name |
| 401874105 | CV2757831 | single nucleotide variant | NM_019015.3(CHPF2):c.352G>A (p.Val118Met) | not specified [RCV004336978] | uncertain significance | 7 | 151235136 | 151235136 | Human | | name |
| 401883791 | CV2764653 | single nucleotide variant | NM_019015.3(CHPF2):c.791T>C (p.Ile264Thr) | not specified [RCV004341456] | uncertain significance | 7 | 151235575 | 151235575 | Human | | name |
| 401877061 | CV2767812 | single nucleotide variant | NM_019015.3(CHPF2):c.641T>A (p.Ile214Asn) | not specified [RCV004345932] | uncertain significance | 7 | 151235425 | 151235425 | Human | | name |
| 405662116 | CV3297202 | single nucleotide variant | NM_019015.3(CHPF2):c.413G>T (p.Arg138Leu) | not specified [RCV004439399] | uncertain significance | 7 | 151235197 | 151235197 | Human | | name |
| 405662118 | CV3297203 | single nucleotide variant | NM_019015.3(CHPF2):c.512T>C (p.Phe171Ser) | not specified [RCV004439400] | uncertain significance | 7 | 151235296 | 151235296 | Human | | name |
| 405662122 | CV3297204 | single nucleotide variant | NM_019015.3(CHPF2):c.521A>G (p.Asp174Gly) | not specified [RCV004439401] | uncertain significance | 7 | 151235305 | 151235305 | Human | | name |
| 405662125 | CV3297205 | single nucleotide variant | NM_019015.3(CHPF2):c.646G>A (p.Ala216Thr) | not specified [RCV004439402] | uncertain significance | 7 | 151235430 | 151235430 | Human | | name |
| 405662128 | CV3297206 | single nucleotide variant | NM_019015.3(CHPF2):c.719G>A (p.Arg240Gln) | not specified [RCV004439403] | uncertain significance | 7 | 151235503 | 151235503 | Human | | name |
| 405662131 | CV3297207 | single nucleotide variant | NM_019015.3(CHPF2):c.809G>A (p.Gly270Asp) | not specified [RCV004439404] | uncertain significance | 7 | 151235593 | 151235593 | Human | | name |
| 407455617 | CV3422792 | single nucleotide variant | NM_019015.3(CHPF2):c.790A>C (p.Ile264Leu) | not specified [RCV004610420] | uncertain significance | 7 | 151235574 | 151235574 | Human | | name |
| 407455622 | CV3422794 | single nucleotide variant | NM_019015.3(CHPF2):c.310G>A (p.Val104Met) | not specified [RCV004610422] | uncertain significance | 7 | 151235094 | 151235094 | Human | | name |
| 407455624 | CV3422795 | single nucleotide variant | NM_019015.3(CHPF2):c.769G>A (p.Glu257Lys) | not specified [RCV004610423] | uncertain significance | 7 | 151235553 | 151235553 | Human | | name |
| 597770039 | CV3653251 | single nucleotide variant | NM_019015.3(CHPF2):c.845C>T (p.Ser282Leu) | not specified [RCV004896853] | uncertain significance | 7 | 151236424 | 151236424 | Human | | name |
| 597770062 | CV3653256 | single nucleotide variant | NM_019015.3(CHPF2):c.842G>A (p.Arg281His) | not specified [RCV004896858] | uncertain significance | 7 | 151236421 | 151236421 | Human | | name |
| 597770067 | CV3653257 | single nucleotide variant | NM_019015.3(CHPF2):c.412C>T (p.Arg138Trp) | not specified [RCV004896859] | uncertain significance | 7 | 151235196 | 151235196 | Human | | name |
| 597770072 | CV3653258 | single nucleotide variant | NM_019015.3(CHPF2):c.940A>G (p.Met314Val) | not specified [RCV004896860] | uncertain significance | 7 | 151236519 | 151236519 | Human | | name |
| 597770077 | CV3653259 | single nucleotide variant | NM_019015.3(CHPF2):c.781C>A (p.Arg261Ser) | not specified [RCV004896861] | uncertain significance | 7 | 151235565 | 151235565 | Human | | name |
| 597770091 | CV3653263 | single nucleotide variant | NM_019015.3(CHPF2):c.697C>T (p.Arg233Trp) | not specified [RCV004896864] | uncertain significance | 7 | 151235481 | 151235481 | Human | | name |
| 598214980 | CV3951681 | single nucleotide variant | NM_019015.3(CHPF2):c.348G>C (p.Leu116Phe) | not specified [RCV005316666] | uncertain significance | 7 | 151235132 | 151235132 | Human | | name |
| 598214997 | CV3951686 | single nucleotide variant | NM_019015.3(CHPF2):c.494G>A (p.Arg165His) | not specified [RCV005316669] | uncertain significance | 7 | 151235278 | 151235278 | Human | | name |
| 15191145 | CV699945 | single nucleotide variant | NM_019015.3(CHPF2):c.761G>A (p.Arg254His) | not provided [RCV000954689] | benign | 7 | 151235545 | 151235545 | Human | | name |
| 156166957 | CV2200968 | single nucleotide variant | NM_019015.3(CHPF2):c.2053C>T (p.Arg685Trp) | not specified [RCV004074738] | uncertain significance | 7 | 151238415 | 151238415 | Human | | name |
| 156317598 | CV2204013 | single nucleotide variant | NM_019015.3(CHPF2):c.1607G>A (p.Arg536His) | not specified [RCV004070052] | uncertain significance | 7 | 151237969 | 151237969 | Human | | name |
| 155917320 | CV2236524 | single nucleotide variant | NM_019015.3(CHPF2):c.1319G>A (p.Arg440Gln) | not specified [RCV004110521] | uncertain significance | 7 | 151237681 | 151237681 | Human | | name |
| 156096200 | CV2253101 | single nucleotide variant | NM_019015.3(CHPF2):c.1055C>G (p.Ala352Gly) | not specified [RCV004120885] | uncertain significance | 7 | 151237417 | 151237417 | Human | | name |
| 156039157 | CV2261187 | single nucleotide variant | NM_019015.3(CHPF2):c.2293G>C (p.Glu765Gln) | not specified [RCV004128073] | uncertain significance | 7 | 151238655 | 151238655 | Human | | name |
| 156045754 | CV2268624 | single nucleotide variant | NM_019015.3(CHPF2):c.2192G>A (p.Arg731Gln) | not specified [RCV004124032] | uncertain significance | 7 | 151238554 | 151238554 | Human | | name |
| 156268044 | CV2296767 | single nucleotide variant | NM_019015.3(CHPF2):c.2287C>G (p.Leu763Val) | not specified [RCV004148667] | uncertain significance | 7 | 151238649 | 151238649 | Human | | name |
| 156269975 | CV2305945 | single nucleotide variant | NM_019015.3(CHPF2):c.1489G>A (p.Val497Met) | not specified [RCV004167723] | uncertain significance | 7 | 151237851 | 151237851 | Human | | name |
| 156243685 | CV2312915 | single nucleotide variant | NM_019015.3(CHPF2):c.1250G>A (p.Arg417His) | not specified [RCV004159428] | uncertain significance | 7 | 151237612 | 151237612 | Human | | name |
| 156281480 | CV2321876 | single nucleotide variant | NM_019015.3(CHPF2):c.2261G>A (p.Gly754Glu) | not specified [RCV004179852] | uncertain significance | 7 | 151238623 | 151238623 | Human | | name |
| 156228374 | CV2352902 | single nucleotide variant | NM_019015.3(CHPF2):c.1301G>A (p.Arg434Gln) | not specified [RCV004200949] | uncertain significance | 7 | 151237663 | 151237663 | Human | | name |
| 156073657 | CV2365467 | single nucleotide variant | NM_019015.3(CHPF2):c.1246C>T (p.Arg416Trp) | not specified [RCV004209540] | uncertain significance | 7 | 151237608 | 151237608 | Human | | name |
| 156162213 | CV2371673 | single nucleotide variant | NM_019015.3(CHPF2):c.2152C>T (p.Arg718Trp) | not specified [RCV004216911] | uncertain significance | 7 | 151238514 | 151238514 | Human | | name |
| 156188163 | CV2375296 | single nucleotide variant | NM_019015.3(CHPF2):c.1114G>T (p.Val372Leu) | not specified [RCV004232704] | uncertain significance | 7 | 151237476 | 151237476 | Human | | name |
| 156205290 | CV2385187 | single nucleotide variant | NM_019015.3(CHPF2):c.1730T>C (p.Met577Thr) | not specified [RCV004228438] | uncertain significance | 7 | 151238092 | 151238092 | Human | | name |
| 156266573 | CV2389192 | single nucleotide variant | NM_019015.3(CHPF2):c.1022G>A (p.Arg341Gln) | not specified [RCV004235518] | uncertain significance | 7 | 151237384 | 151237384 | Human | | name |
| 156258961 | CV2395434 | single nucleotide variant | NM_019015.3(CHPF2):c.1880A>G (p.Asn627Ser) | not specified [RCV004241306] | uncertain significance | 7 | 151238242 | 151238242 | Human | | name |
| 329367669 | CV2427498 | single nucleotide variant | NM_019015.3(CHPF2):c.1309G>A (p.Asp437Asn) | not specified [RCV004250137] | uncertain significance | 7 | 151237671 | 151237671 | Human | | name |
| 329386445 | CV2428316 | single nucleotide variant | NM_019015.3(CHPF2):c.1823G>A (p.Arg608His) | not specified [RCV004251338] | uncertain significance | 7 | 151238185 | 151238185 | Human | | name |
| 329360805 | CV2439783 | single nucleotide variant | NM_019015.3(CHPF2):c.1463G>A (p.Arg488Gln) | not specified [RCV004255786] | uncertain significance | 7 | 151237825 | 151237825 | Human | | name |
| 329374127 | CV2443671 | single nucleotide variant | NM_019015.3(CHPF2):c.1966C>T (p.Arg656Trp) | not specified [RCV004255975] | uncertain significance | 7 | 151238328 | 151238328 | Human | | name |
| 401774397 | CV2691721 | single nucleotide variant | NM_019015.3(CHPF2):c.1936C>G (p.Pro646Ala) | not specified [RCV004299181] | uncertain significance | 7 | 151238298 | 151238298 | Human | | name |
| 401736788 | CV2699599 | single nucleotide variant | NM_019015.3(CHPF2):c.1298A>C (p.Tyr433Ser) | not specified [RCV004299789] | uncertain significance | 7 | 151237660 | 151237660 | Human | | name |
| 401884323 | CV2789649 | single nucleotide variant | NM_019015.3(CHPF2):c.1351G>C (p.Glu451Gln) | not specified [RCV004360247] | uncertain significance | 7 | 151237713 | 151237713 | Human | | name |
| 405662090 | CV3297193 | single nucleotide variant | NM_019015.3(CHPF2):c.1022G>T (p.Arg341Leu) | not specified [RCV004439390] | uncertain significance | 7 | 151237384 | 151237384 | Human | | name |
| 405662092 | CV3297194 | single nucleotide variant | NM_019015.3(CHPF2):c.1207G>A (p.Val403Met) | not specified [RCV004439391] | uncertain significance | 7 | 151237569 | 151237569 | Human | | name |
| 405662095 | CV3297195 | single nucleotide variant | NM_019015.3(CHPF2):c.1217C>T (p.Ala406Val) | not specified [RCV004439392] | uncertain significance | 7 | 151237579 | 151237579 | Human | | name |
| 405662098 | CV3297196 | single nucleotide variant | NM_019015.3(CHPF2):c.1262G>A (p.Arg421His) | not specified [RCV004439393] | uncertain significance | 7 | 151237624 | 151237624 | Human | | name |
| 405662100 | CV3297197 | single nucleotide variant | NM_019015.3(CHPF2):c.1324A>T (p.Met442Leu) | not specified [RCV004439394] | uncertain significance | 7 | 151237686 | 151237686 | Human | | name |
| 405662103 | CV3297198 | single nucleotide variant | NM_019015.3(CHPF2):c.1365G>C (p.Gln455His) | not specified [RCV004439395] | uncertain significance | 7 | 151237727 | 151237727 | Human | | name |
| 405662106 | CV3297199 | single nucleotide variant | NM_019015.3(CHPF2):c.1472T>C (p.Leu491Pro) | not specified [RCV004439396] | uncertain significance | 7 | 151237834 | 151237834 | Human | | name |
| 405662109 | CV3297200 | single nucleotide variant | NM_019015.3(CHPF2):c.1588G>A (p.Gly530Arg) | not specified [RCV004439397] | uncertain significance | 7 | 151237950 | 151237950 | Human | | name |
| 407455612 | CV3422790 | single nucleotide variant | NM_019015.3(CHPF2):c.1523A>C (p.Glu508Ala) | not specified [RCV004610418] | uncertain significance | 7 | 151237885 | 151237885 | Human | | name |
| 407455619 | CV3422793 | single nucleotide variant | NM_019015.3(CHPF2):c.1880A>T (p.Asn627Ile) | not specified [RCV004610421] | uncertain significance | 7 | 151238242 | 151238242 | Human | | name |
| 597770029 | CV3653249 | single nucleotide variant | NM_019015.3(CHPF2):c.1186C>G (p.Gln396Glu) | not specified [RCV004896851] | uncertain significance | 7 | 151237548 | 151237548 | Human | | name |
| 597770048 | CV3653253 | single nucleotide variant | NM_019015.3(CHPF2):c.1300C>T (p.Arg434Trp) | not specified [RCV004896855] | uncertain significance | 7 | 151237662 | 151237662 | Human | | name |
| 597770052 | CV3653254 | single nucleotide variant | NM_019015.3(CHPF2):c.1511C>T (p.Pro504Leu) | not specified [RCV004896856] | likely benign | 7 | 151237873 | 151237873 | Human | | name |
| 597770057 | CV3653255 | single nucleotide variant | NM_019015.3(CHPF2):c.1895C>T (p.Pro632Leu) | not specified [RCV004896857] | uncertain significance | 7 | 151238257 | 151238257 | Human | | name |
| 597770087 | CV3653262 | single nucleotide variant | NM_019015.3(CHPF2):c.1661G>A (p.Arg554Gln) | not specified [RCV004896863] | uncertain significance | 7 | 151238023 | 151238023 | Human | | name |
| 597770096 | CV3653264 | single nucleotide variant | NM_019015.3(CHPF2):c.1703C>T (p.Ala568Val) | not specified [RCV004896865] | uncertain significance | 7 | 151238065 | 151238065 | Human | | name |
| 597770101 | CV3653265 | single nucleotide variant | NM_019015.3(CHPF2):c.1972G>A (p.Ala658Thr) | not specified [RCV004896866] | uncertain significance | 7 | 151238334 | 151238334 | Human | | name |
| 597770106 | CV3653266 | single nucleotide variant | NM_019015.3(CHPF2):c.1094C>T (p.Thr365Ile) | not specified [RCV004896867] | likely benign | 7 | 151237456 | 151237456 | Human | | name |
| 597770116 | CV3653268 | single nucleotide variant | NM_019015.3(CHPF2):c.1247G>A (p.Arg416Gln) | not specified [RCV004896869] | uncertain significance | 7 | 151237609 | 151237609 | Human | | name |
| 597770120 | CV3653269 | single nucleotide variant | NM_019015.3(CHPF2):c.1138G>A (p.Glu380Lys) | not specified [RCV004896870] | uncertain significance | 7 | 151237500 | 151237500 | Human | | name |
| 598214986 | CV3951682 | single nucleotide variant | NM_019015.3(CHPF2):c.1784T>C (p.Val595Ala) | not specified [RCV005316667] | uncertain significance | 7 | 151238146 | 151238146 | Human | | name |
| 598264400 | CV3951683 | single nucleotide variant | NM_019015.3(CHPF2):c.1760A>T (p.Asp587Val) | not specified [RCV005326122] | uncertain significance | 7 | 151238122 | 151238122 | Human | | name |
| 598215002 | CV3951687 | single nucleotide variant | NM_019015.3(CHPF2):c.1256A>G (p.Gln419Arg) | not specified [RCV005316670] | uncertain significance | 7 | 151237618 | 151237618 | Human | | name |
| 15186368 | CV699946 | single nucleotide variant | NM_019015.3(CHPF2):c.1379G>A (p.Arg460Gln) | not provided [RCV000953261] | benign|likely benign | 7 | 151237741 | 151237741 | Human | | name |