| 156048104 | CV2245028 | single nucleotide variant | NM_001136108.3(R3HCC1):c.899A>G (p.His300Arg) | not specified [RCV004104754] | uncertain significance | 8 | 23291407 | 23291407 | Human | | name |
| 156368749 | CV2267072 | single nucleotide variant | NM_001136108.3(R3HCC1):c.842T>C (p.Leu281Pro) | not specified [RCV004131701] | uncertain significance | 8 | 23290459 | 23290459 | Human | | name |
| 156087539 | CV2299149 | single nucleotide variant | NM_001136108.3(R3HCC1):c.992C>A (p.Thr331Lys) | not specified [RCV004152492] | uncertain significance | 8 | 23291500 | 23291500 | Human | | name |
| 405669150 | CV3308420 | single nucleotide variant | NM_001136108.3(R3HCC1):c.698G>A (p.Arg233Gln) | not specified [RCV004440892] | likely benign | 8 | 23290315 | 23290315 | Human | | name |
| 405669155 | CV3308421 | single nucleotide variant | NM_001136108.3(R3HCC1):c.758G>C (p.Arg253Thr) | not specified [RCV004440893] | uncertain significance | 8 | 23290375 | 23290375 | Human | | name |
| 407474189 | CV3465041 | single nucleotide variant | NM_001136108.3(R3HCC1):c.784G>A (p.Glu262Lys) | not specified [RCV004662936] | uncertain significance | 8 | 23290401 | 23290401 | Human | | name |
| 407474193 | CV3465042 | single nucleotide variant | NM_001136108.3(R3HCC1):c.883C>G (p.Gln295Glu) | not specified [RCV004662937] | uncertain significance | 8 | 23291391 | 23291391 | Human | | name |
| 597774543 | CV3588879 | single nucleotide variant | NM_001136108.3(R3HCC1):c.569A>G (p.Gln190Arg) | not specified [RCV004852009] | uncertain significance | 8 | 23290186 | 23290186 | Human | | name |
| 597774554 | CV3588882 | single nucleotide variant | NM_001136108.3(R3HCC1):c.778G>C (p.Glu260Gln) | not specified [RCV004852012] | uncertain significance | 8 | 23290395 | 23290395 | Human | | name |
| 598163248 | CV3898412 | single nucleotide variant | NM_001136108.3(R3HCC1):c.992C>T (p.Thr331Met) | not specified [RCV005261516] | uncertain significance | 8 | 23291500 | 23291500 | Human | | name |
| 598163253 | CV3898413 | single nucleotide variant | NM_001136108.3(R3HCC1):c.908C>G (p.Thr303Arg) | not specified [RCV005261517] | uncertain significance | 8 | 23291416 | 23291416 | Human | | name |
| 598163259 | CV3898414 | single nucleotide variant | NM_001136108.3(R3HCC1):c.955G>C (p.Val319Leu) | not specified [RCV005261518] | uncertain significance | 8 | 23291463 | 23291463 | Human | | name |
| 598163278 | CV3898418 | single nucleotide variant | NM_001136108.3(R3HCC1):c.863A>T (p.Asn288Ile) | not specified [RCV005261521] | uncertain significance | 8 | 23291371 | 23291371 | Human | | name |
| 156273763 | CV2254646 | single nucleotide variant | NM_001136108.3(R3HCC1):c.1114C>T (p.Arg372Trp) | not specified [RCV004115134] | uncertain significance | 8 | 23294786 | 23294786 | Human | | name |
| 156043349 | CV2268445 | single nucleotide variant | NM_001136108.3(R3HCC1):c.1282A>G (p.Lys428Glu) | not specified [RCV004130146] | uncertain significance | 8 | 23296056 | 23296056 | Human | | name |
| 156160174 | CV2322810 | single nucleotide variant | NM_001136108.3(R3HCC1):c.1122C>A (p.Phe374Leu) | not specified [RCV004182908] | uncertain significance | 8 | 23294794 | 23294794 | Human | | name |
| 155978897 | CV2339987 | single nucleotide variant | NM_001136108.3(R3HCC1):c.1201C>T (p.Arg401Cys) | not specified [RCV004192241] | uncertain significance | 8 | 23295975 | 23295975 | Human | | name |
| 156151958 | CV2377592 | single nucleotide variant | NM_001136108.3(R3HCC1):c.1202G>A (p.Arg401His) | not specified [RCV004227782] | uncertain significance | 8 | 23295976 | 23295976 | Human | | name |
| 401767914 | CV2677935 | single nucleotide variant | NM_001136108.3(R3HCC1):c.1244G>A (p.Arg415Gln) | not specified [RCV004294421] | uncertain significance | 8 | 23296018 | 23296018 | Human | | name |
| 401781710 | CV2722236 | single nucleotide variant | NM_001136108.3(R3HCC1):c.1303C>T (p.Arg435Trp) | not specified [RCV004328797] | uncertain significance | 8 | 23296077 | 23296077 | Human | | name |
| 401875583 | CV2766102 | single nucleotide variant | NM_001136108.3(R3HCC1):c.1124C>T (p.Ser375Leu) | not specified [RCV004340557] | uncertain significance | 8 | 23294796 | 23294796 | Human | | name |
| 401878679 | CV2767504 | single nucleotide variant | NM_001136108.3(R3HCC1):c.1304G>A (p.Arg435Gln) | not specified [RCV004343667] | likely benign | 8 | 23296078 | 23296078 | Human | | name |
| 405669163 | CV3308422 | single nucleotide variant | NM_001136108.3(R3HCC1):c.1009A>G (p.Thr337Ala) | not specified [RCV004440894] | likely benign | 8 | 23291517 | 23291517 | Human | | name |
| 405669171 | CV3308424 | single nucleotide variant | NM_001136108.3(R3HCC1):c.1085G>T (p.Cys362Phe) | not specified [RCV004440896] | uncertain significance | 8 | 23293362 | 23293362 | Human | | name |
| 405669177 | CV3308425 | single nucleotide variant | NM_001136108.3(R3HCC1):c.1138C>T (p.Arg380Trp) | not specified [RCV004440897] | uncertain significance | 8 | 23294810 | 23294810 | Human | | name |
| 405669182 | CV3308426 | single nucleotide variant | NM_001136108.3(R3HCC1):c.1258C>T (p.Arg420Trp) | not specified [RCV004440898] | uncertain significance | 8 | 23296032 | 23296032 | Human | | name |
| 405669187 | CV3308427 | single nucleotide variant | NM_001136108.3(R3HCC1):c.1295C>G (p.Pro432Arg) | not specified [RCV004440899] | uncertain significance | 8 | 23296069 | 23296069 | Human | | name |
| 407499669 | CV3465040 | single nucleotide variant | NM_001136108.3(R3HCC1):c.1316C>T (p.Pro439Leu) | not specified [RCV004669368] | uncertain significance | 8 | 23296090 | 23296090 | Human | | name |
| 407474197 | CV3465043 | single nucleotide variant | NM_001136108.3(R3HCC1):c.1252G>A (p.Val418Met) | not specified [RCV004662938] | uncertain significance | 8 | 23296026 | 23296026 | Human | | name |
| 597774532 | CV3588876 | single nucleotide variant | NM_001136108.3(R3HCC1):c.1310C>T (p.Pro437Leu) | not specified [RCV004852006] | likely benign | 8 | 23296084 | 23296084 | Human | | name |
| 597774535 | CV3588877 | single nucleotide variant | NM_001136108.3(R3HCC1):c.1010C>T (p.Thr337Met) | not specified [RCV004852007] | uncertain significance | 8 | 23291518 | 23291518 | Human | | name |
| 597774539 | CV3588878 | single nucleotide variant | NM_001136108.3(R3HCC1):c.1259G>A (p.Arg420Gln) | not specified [RCV004852008] | uncertain significance | 8 | 23296033 | 23296033 | Human | | name |
| 597774547 | CV3588880 | single nucleotide variant | NM_001136108.3(R3HCC1):c.1069C>T (p.Leu357Phe) | not specified [RCV004852010] | uncertain significance | 8 | 23293346 | 23293346 | Human | | name |
| 597774551 | CV3588881 | single nucleotide variant | NM_001136108.3(R3HCC1):c.1100C>T (p.Ala367Val) | not specified [RCV004852011] | uncertain significance | 8 | 23294772 | 23294772 | Human | | name |
| 597774559 | CV3588883 | single nucleotide variant | NM_001136108.3(R3HCC1):c.1114C>G (p.Arg372Gly) | not specified [RCV004852013] | uncertain significance | 8 | 23294786 | 23294786 | Human | | name |
| 598163265 | CV3898415 | single nucleotide variant | NM_001136108.3(R3HCC1):c.1190C>T (p.Pro397Leu) | not specified [RCV005261519] | uncertain significance | 8 | 23294862 | 23294862 | Human | | name |
| 598163271 | CV3898417 | single nucleotide variant | NM_001136108.3(R3HCC1):c.1300G>A (p.Val434Ile) | not specified [RCV005261520] | uncertain significance | 8 | 23296074 | 23296074 | Human | | name |
| 598163283 | CV3898419 | single nucleotide variant | NM_001136108.3(R3HCC1):c.1300G>C (p.Val434Leu) | not specified [RCV005261522] | uncertain significance | 8 | 23296074 | 23296074 | Human | | name |
| 401907671 | CV2809527 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1785+1410G>A | not provided [RCV003422788] | likely benign | 10 | 98211309 | 98211309 | Human | | name |
| 401881871 | CV2774641 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.5A>C (p.Gln2Pro) | not specified [RCV004350107] | uncertain significance | 10 | 98208119 | 98208119 | Human | | name |
| 8626888 | CV82032 | single nucleotide variant | NM_014472.4(R3HCC1L):c.1380A>T (p.Gly460=) | Malignant melanoma [RCV000062111] | not provided | 10 | 98209494 | 98209494 | Human | | name |
| 156252972 | CV2264542 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.74G>A (p.Arg25His) | not specified [RCV004132560] | uncertain significance | 10 | 98208188 | 98208188 | Human | | name |
| 405669268 | CV3308443 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.49A>G (p.Met17Val) | not specified [RCV004440915] | uncertain significance | 10 | 98208163 | 98208163 | Human | | name |
| 156189287 | CV2226831 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.166C>G (p.Leu56Val) | not specified [RCV004103818] | uncertain significance | 10 | 98208280 | 98208280 | Human | | name |
| 155922267 | CV2240658 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.156A>C (p.Lys52Asn) | not specified [RCV004119292] | uncertain significance | 10 | 98208270 | 98208270 | Human | | name |
| 156187490 | CV2378078 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.281T>C (p.Met94Thr) | not specified [RCV004232637] | uncertain significance | 10 | 98208395 | 98208395 | Human | | name |
| 405669221 | CV3308434 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.167T>C (p.Leu56Pro) | not specified [RCV004440906] | uncertain significance | 10 | 98208281 | 98208281 | Human | | name |
| 405669247 | CV3308439 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.224C>G (p.Pro75Arg) | not specified [RCV004440911] | uncertain significance | 10 | 98208338 | 98208338 | Human | | name |
| 407483290 | CV3465051 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.104A>G (p.Asp35Gly) | not specified [RCV004664925] | uncertain significance | 10 | 98208218 | 98208218 | Human | | name |
| 407483295 | CV3465052 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.164C>G (p.Ser55Cys) | not specified [RCV004664926] | likely benign | 10 | 98208278 | 98208278 | Human | | name |
| 597774583 | CV3588889 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.230G>A (p.Arg77Lys) | not specified [RCV004852019] | likely benign | 10 | 98208344 | 98208344 | Human | | name |
| 156148139 | CV2197008 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.707C>G (p.Pro236Arg) | not specified [RCV004071459] | uncertain significance | 10 | 98208821 | 98208821 | Human | | name |
| 156280740 | CV2206435 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.799A>T (p.Thr267Ser) | not specified [RCV004078755] | uncertain significance | 10 | 98208913 | 98208913 | Human | | name |
| 156340681 | CV2225664 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.970A>G (p.Thr324Ala) | not specified [RCV004103088] | uncertain significance | 10 | 98209084 | 98209084 | Human | | name |
| 155983023 | CV2239942 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.905A>G (p.Gln302Arg) | not specified [RCV004110743] | uncertain significance | 10 | 98209019 | 98209019 | Human | | name |
| 156293525 | CV2243435 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.479G>T (p.Arg160Met) | not specified [RCV004112406] | uncertain significance | 10 | 98208593 | 98208593 | Human | | name |
| 156311801 | CV2256769 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.808C>A (p.Pro270Thr) | not specified [RCV004120996] | uncertain significance | 10 | 98208922 | 98208922 | Human | | name |
| 156045940 | CV2319060 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.326G>T (p.Gly109Val) | not specified [RCV004178141] | uncertain significance | 10 | 98208440 | 98208440 | Human | | name |
| 156183563 | CV2349840 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.391A>G (p.Ile131Val) | not specified [RCV004206263] | uncertain significance | 10 | 98208505 | 98208505 | Human | | name |
| 156127993 | CV2358353 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.860A>G (p.Glu287Gly) | not specified [RCV004214164] | uncertain significance | 10 | 98208974 | 98208974 | Human | | name |
| 156061353 | CV2391982 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.599A>G (p.Asp200Gly) | not specified [RCV004235842] | uncertain significance | 10 | 98208713 | 98208713 | Human | | name |
| 329367248 | CV2427293 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.914C>A (p.Thr305Lys) | not specified [RCV004248156] | uncertain significance | 10 | 98209028 | 98209028 | Human | | name |
| 329388192 | CV2437183 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.458C>T (p.Thr153Met) | not specified [RCV004256077] | uncertain significance | 10 | 98208572 | 98208572 | Human | | name |
| 401735847 | CV2672756 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.881A>G (p.Asn294Ser) | not specified [RCV004287766] | likely benign | 10 | 98208995 | 98208995 | Human | | name |
| 401765111 | CV2701863 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.626C>G (p.Thr209Ser) | not specified [RCV004307827] | uncertain significance | 10 | 98208740 | 98208740 | Human | | name |
| 401855847 | CV2757544 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.589G>A (p.Ala197Thr) | not specified [RCV004340920] | likely benign | 10 | 98208703 | 98208703 | Human | | name |
| 401871294 | CV2783470 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.467C>T (p.Thr156Ile) | not specified [RCV004365812] | uncertain significance | 10 | 98208581 | 98208581 | Human | | name |
| 405669252 | CV3308440 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.311T>A (p.Val104Asp) | not specified [RCV004440912] | uncertain significance | 10 | 98208425 | 98208425 | Human | | name |
| 405678755 | CV3308444 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.570G>T (p.Arg190Ser) | not specified [RCV004442900] | uncertain significance | 10 | 98208684 | 98208684 | Human | | name |
| 405678762 | CV3308445 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.571C>T (p.His191Tyr) | not specified [RCV004442901] | uncertain significance | 10 | 98208685 | 98208685 | Human | | name |
| 405678769 | CV3308446 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.779G>A (p.Ser260Asn) | not specified [RCV004442902] | uncertain significance | 10 | 98208893 | 98208893 | Human | | name |
| 405678773 | CV3308447 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.814A>G (p.Ser272Gly) | not specified [RCV004442903] | uncertain significance | 10 | 98208928 | 98208928 | Human | | name |
| 407499673 | CV3465044 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.567T>G (p.Ser189Arg) | not specified [RCV004669369] | uncertain significance | 10 | 98208681 | 98208681 | Human | | name |
| 407474200 | CV3465045 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.583G>A (p.Gly195Arg) | not specified [RCV004662939] | uncertain significance | 10 | 98208697 | 98208697 | Human | | name |
| 407499677 | CV3465046 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.534A>T (p.Lys178Asn) | not specified [RCV004669370] | uncertain significance | 10 | 98208648 | 98208648 | Human | | name |
| 407499681 | CV3465047 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.773A>G (p.Asn258Ser) | not specified [RCV004669371] | uncertain significance | 10 | 98208887 | 98208887 | Human | | name |
| 407483285 | CV3465050 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.796A>G (p.Thr266Ala) | not specified [RCV004664924] | likely benign | 10 | 98208910 | 98208910 | Human | | name |
| 597774570 | CV3588886 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.368A>T (p.Gln123Leu) | not specified [RCV004852016] | uncertain significance | 10 | 98208482 | 98208482 | Human | | name |
| 597774579 | CV3588888 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.842G>C (p.Cys281Ser) | not specified [RCV004852018] | uncertain significance | 10 | 98208956 | 98208956 | Human | | name |
| 597774587 | CV3588890 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.679G>C (p.Val227Leu) | not specified [RCV004852020] | uncertain significance | 10 | 98208793 | 98208793 | Human | | name |
| 597774595 | CV3588892 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.958A>C (p.Ser320Arg) | not specified [RCV004852022] | uncertain significance | 10 | 98209072 | 98209072 | Human | | name |
| 598163287 | CV3898420 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.763G>A (p.Gly255Arg) | not specified [RCV005261523] | uncertain significance | 10 | 98208877 | 98208877 | Human | | name |
| 598163321 | CV3898425 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.319A>G (p.Lys107Glu) | not specified [RCV005261528] | uncertain significance | 10 | 98208433 | 98208433 | Human | | name |
| 598163333 | CV3898427 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.839C>T (p.Thr280Ile) | not specified [RCV005261530] | uncertain significance | 10 | 98208953 | 98208953 | Human | | name |
| 598163337 | CV3898428 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.971C>T (p.Thr324Ile) | not specified [RCV005261531] | likely benign | 10 | 98209085 | 98209085 | Human | | name |
| 598163348 | CV3898430 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.560A>G (p.Asp187Gly) | not specified [RCV005261533] | uncertain significance | 10 | 98208674 | 98208674 | Human | | name |
| 156400993 | CV2213701 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1105G>A (p.Gly369Ser) | not specified [RCV004089774] | uncertain significance | 10 | 98209219 | 98209219 | Human | | name |
| 156118815 | CV2219207 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1936C>T (p.Leu646Phe) | not specified [RCV004093472] | uncertain significance | 10 | 98231662 | 98231662 | Human | | name |
| 155915014 | CV2264833 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1890T>A (p.His630Gln) | not specified [RCV004134591] | uncertain significance | 10 | 98231616 | 98231616 | Human | | name |
| 156015383 | CV2269889 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.2120C>A (p.Ala707Asp) | not specified [RCV004127113] | uncertain significance | 10 | 98235512 | 98235512 | Human | | name |
| 156161366 | CV2272585 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1403A>G (p.Asp468Gly) | not specified [RCV004133472] | uncertain significance | 10 | 98209517 | 98209517 | Human | | name |
| 156023381 | CV2273759 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1381A>C (p.Lys461Gln) | not specified [RCV004132402] | uncertain significance | 10 | 98209495 | 98209495 | Human | | name |
| 156125407 | CV2283631 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1244T>C (p.Phe415Ser) | not specified [RCV004142175] | uncertain significance | 10 | 98209358 | 98209358 | Human | | name |
| 156241035 | CV2286091 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.2233C>G (p.Arg745Gly) | not specified [RCV004143979] | uncertain significance | 10 | 98236128 | 98236128 | Human | | name |
| 156199358 | CV2312985 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1334A>G (p.Asp445Gly) | not specified [RCV004159488] | likely benign | 10 | 98209448 | 98209448 | Human | | name |
| 156263493 | CV2314994 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1324G>C (p.Ala442Pro) | not specified [RCV004164915] | uncertain significance | 10 | 98209438 | 98209438 | Human | | name |
| 156294389 | CV2321407 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.2036G>A (p.Arg679His) | not specified [RCV004177397] | uncertain significance | 10 | 98235428 | 98235428 | Human | | name |
| 156335720 | CV2333569 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1336A>T (p.Ile446Phe) | not specified [RCV004190254] | uncertain significance | 10 | 98209450 | 98209450 | Human | | name |
| 156285054 | CV2349067 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.2279G>A (p.Arg760Gln) | not specified [RCV004205506] | uncertain significance | 10 | 98244100 | 98244100 | Human | | name |
| 155927217 | CV2365893 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.2297G>A (p.Arg766Gln) | not specified [RCV004214422] | uncertain significance | 10 | 98244118 | 98244118 | Human | | name |
| 156382449 | CV2367240 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1715C>T (p.Ala572Val) | not specified [RCV004215662] | uncertain significance | 10 | 98209829 | 98209829 | Human | | name |
| 156384632 | CV2371523 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1420C>G (p.Pro474Ala) | not specified [RCV004216775] | uncertain significance | 10 | 98209534 | 98209534 | Human | | name |
| 155990539 | CV2372066 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1702G>C (p.Glu568Gln) | not specified [RCV004221734] | uncertain significance | 10 | 98209816 | 98209816 | Human | | name |
| 155902893 | CV2386369 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1576G>A (p.Glu526Lys) | not specified [RCV004228703] | likely benign | 10 | 98209690 | 98209690 | Human | | name |
| 156198898 | CV2392213 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1570A>G (p.Thr524Ala) | not specified [RCV004243826] | uncertain significance | 10 | 98209684 | 98209684 | Human | | name |
| 156219465 | CV2393596 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1477A>G (p.Met493Val) | not specified [RCV004231410] | uncertain significance | 10 | 98209591 | 98209591 | Human | | name |
| 156103549 | CV2400218 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1772G>A (p.Arg591His) | not specified [RCV004243011] | uncertain significance | 10 | 98209886 | 98209886 | Human | | name |
| 329358979 | CV2425331 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1619A>C (p.Glu540Ala) | not specified [RCV004250996] | uncertain significance | 10 | 98209733 | 98209733 | Human | | name |
| 329388183 | CV2437174 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.2095A>G (p.Arg699Gly) | not specified [RCV004262977] | uncertain significance | 10 | 98235487 | 98235487 | Human | | name |
| 401738378 | CV2676264 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.2296C>T (p.Arg766Trp) | not specified [RCV004286303] | uncertain significance | 10 | 98244117 | 98244117 | Human | | name |
| 401724278 | CV2681367 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1942C>T (p.Arg648Trp) | not specified [RCV004291914] | uncertain significance | 10 | 98231668 | 98231668 | Human | | name |
| 401743458 | CV2684709 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1452C>G (p.Asn484Lys) | not specified [RCV004293800] | uncertain significance | 10 | 98209566 | 98209566 | Human | | name |
| 401747653 | CV2688974 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1261G>C (p.Asp421His) | not specified [RCV004305759] | uncertain significance | 10 | 98209375 | 98209375 | Human | | name |
| 401750323 | CV2696017 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1298A>T (p.Asp433Val) | not specified [RCV004308274] | uncertain significance | 10 | 98209412 | 98209412 | Human | | name |
| 401770917 | CV2700762 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1894A>G (p.Ile632Val) | not specified [RCV004307049] | uncertain significance | 10 | 98231620 | 98231620 | Human | | name |
| 401724675 | CV2714925 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1080T>G (p.His360Gln) | not specified [RCV004322255] | uncertain significance | 10 | 98209194 | 98209194 | Human | | name |
| 405669192 | CV3308428 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1022A>T (p.Asp341Val) | not specified [RCV004440900] | uncertain significance | 10 | 98209136 | 98209136 | Human | | name |
| 405669198 | CV3308429 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1079A>G (p.His360Arg) | not specified [RCV004440901] | uncertain significance | 10 | 98209193 | 98209193 | Human | | name |
| 405669202 | CV3308430 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1084G>C (p.Asp362His) | not specified [RCV004440902] | uncertain significance | 10 | 98209198 | 98209198 | Human | | name |
| 405669207 | CV3308431 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1171G>A (p.Val391Ile) | not specified [RCV004440903] | uncertain significance | 10 | 98209285 | 98209285 | Human | | name |
| 405669210 | CV3308432 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1513G>A (p.Val505Met) | not specified [RCV004440904] | likely benign | 10 | 98209627 | 98209627 | Human | | name |
| 405669217 | CV3308433 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1617A>G (p.Ile539Met) | not specified [RCV004440905] | uncertain significance | 10 | 98209731 | 98209731 | Human | | name |
| 405669227 | CV3308435 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1703A>C (p.Glu568Ala) | not specified [RCV004440907] | uncertain significance | 10 | 98209817 | 98209817 | Human | | name |
| 405669232 | CV3308436 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1771C>T (p.Arg591Cys) | not specified [RCV004440908] | uncertain significance | 10 | 98209885 | 98209885 | Human | | name |
| 405669238 | CV3308437 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1841A>G (p.Tyr614Cys) | not specified [RCV004440909] | uncertain significance | 10 | 98231567 | 98231567 | Human | | name |
| 405669243 | CV3308438 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.2131T>A (p.Phe711Ile) | not specified [RCV004440910] | uncertain significance | 10 | 98236026 | 98236026 | Human | | name |
| 407474204 | CV3465048 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.2075G>A (p.Arg692His) | not specified [RCV004662940] | uncertain significance | 10 | 98235467 | 98235467 | Human | | name |
| 407483279 | CV3465049 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.2098G>A (p.Ala700Thr) | not specified [RCV004664923] | uncertain significance | 10 | 98235490 | 98235490 | Human | | name |
| 597774562 | CV3588884 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.2026A>G (p.Ile676Val) | not specified [RCV004852014] | uncertain significance | 10 | 98234510 | 98234510 | Human | | name |
| 597774566 | CV3588885 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1717A>G (p.Ile573Val) | not specified [RCV004852015] | uncertain significance | 10 | 98209831 | 98209831 | Human | | name |
| 597774574 | CV3588887 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1430A>G (p.Lys477Arg) | not specified [RCV004852017] | uncertain significance | 10 | 98209544 | 98209544 | Human | | name |
| 597774591 | CV3588891 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.2035C>T (p.Arg679Cys) | not specified [RCV004852021] | uncertain significance | 10 | 98235427 | 98235427 | Human | | name |
| 598163295 | CV3898421 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1847A>G (p.His616Arg) | not specified [RCV005261524] | uncertain significance | 10 | 98231573 | 98231573 | Human | | name |
| 598163302 | CV3898422 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1391A>G (p.Glu464Gly) | not specified [RCV005261525] | uncertain significance | 10 | 98209505 | 98209505 | Human | | name |
| 598163308 | CV3898423 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.2021G>C (p.Ser674Thr) | not specified [RCV005261526] | uncertain significance | 10 | 98234505 | 98234505 | Human | | name |
| 598163315 | CV3898424 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1180C>G (p.Pro394Ala) | not specified [RCV005261527] | uncertain significance | 10 | 98209294 | 98209294 | Human | | name |
| 598163343 | CV3898429 | single nucleotide variant | NM_001351015.2(R3HCC1L):c.1052A>T (p.Asp351Val) | not specified [RCV005261532] | uncertain significance | 10 | 98209166 | 98209166 | Human | | name |