| 156002407 | CV2293307 | single nucleotide variant | NM_003132.3(SRM):c.38C>T (p.Pro13Leu) | not specified [RCV004150794] | uncertain significance | 1 | 11059906 | 11059906 | Human | | name |
| 405789970 | CV3330591 | single nucleotide variant | NM_003132.3(SRM):c.44C>T (p.Ala15Val) | not specified [RCV004460431] | uncertain significance | 1 | 11059900 | 11059900 | Human | | name |
| 597778990 | CV3611408 | single nucleotide variant | NM_003132.3(SRM):c.121C>A (p.Leu41Ile) | not specified [RCV004873426] | uncertain significance | 1 | 11059823 | 11059823 | Human | | name |
| 598162856 | CV3912143 | single nucleotide variant | NM_003132.3(SRM):c.250G>T (p.Ala84Ser) | not specified [RCV005283015] | uncertain significance | 1 | 11059263 | 11059263 | Human | | name |
| 156383863 | CV2220228 | single nucleotide variant | NM_003132.3(SRM):c.781G>A (p.Glu261Lys) | not specified [RCV004095675] | uncertain significance | 1 | 11055069 | 11055069 | Human | | name |
| 155944034 | CV2271527 | single nucleotide variant | NM_003132.3(SRM):c.368G>A (p.Cys123Tyr) | not specified [RCV004128618] | uncertain significance | 1 | 11058813 | 11058813 | Human | | name |
| 156189046 | CV2292599 | single nucleotide variant | NM_003132.3(SRM):c.779A>G (p.Gln260Arg) | not specified [RCV004150365] | likely benign | 1 | 11055071 | 11055071 | Human | | name |
| 329358720 | CV2450675 | single nucleotide variant | NM_003132.3(SRM):c.898G>T (p.Asp300Tyr) | not specified [RCV004267628] | uncertain significance | 1 | 11054876 | 11054876 | Human | | name |
| 405789973 | CV3330592 | single nucleotide variant | NM_003132.3(SRM):c.593A>G (p.Lys198Arg) | not specified [RCV004460432] | uncertain significance | 1 | 11056037 | 11056037 | Human | | name |
| 405789977 | CV3330593 | single nucleotide variant | NM_003132.3(SRM):c.844G>A (p.Asp282Asn) | not specified [RCV004460433] | uncertain significance | 1 | 11055006 | 11055006 | Human | | name |
| 597778986 | CV3611407 | single nucleotide variant | NM_003132.3(SRM):c.886A>G (p.Lys296Glu) | not specified [RCV004873425] | uncertain significance | 1 | 11054964 | 11054964 | Human | | name |
| 597778997 | CV3611409 | single nucleotide variant | NM_003132.3(SRM):c.814G>A (p.Ala272Thr) | not specified [RCV004873427] | uncertain significance | 1 | 11055036 | 11055036 | Human | | name |
| 598162861 | CV3912145 | single nucleotide variant | NM_003132.3(SRM):c.853C>T (p.Arg285Cys) | not specified [RCV005283016] | uncertain significance | 1 | 11054997 | 11054997 | Human | | name |
| 598162869 | CV3912146 | single nucleotide variant | NM_003132.3(SRM):c.770C>T (p.Thr257Met) | not specified [RCV005283017] | uncertain significance | 1 | 11055080 | 11055080 | Human | | name |
| 329354159 | CV2447224 | single nucleotide variant | NM_080823.4(SRMS):c.22C>T (p.Arg8Trp) | not specified [RCV004262520] | uncertain significance | 20 | 63547442 | 63547442 | Human | | name |
| 401749864 | CV2719429 | single nucleotide variant | NM_080823.4(SRMS):c.13C>T (p.Leu5Phe) | not specified [RCV004326831] | uncertain significance | 20 | 63547451 | 63547451 | Human | | name |
| 401919974 | CV2824631 | single nucleotide variant | NM_080823.4(SRMS):c.291C>T (p.Pro97=) | not provided [RCV003431432] | likely benign | 20 | 63547173 | 63547173 | Human | | name |
| 597680536 | CV3611413 | single nucleotide variant | NM_080823.4(SRMS):c.23G>A (p.Arg8Gln) | not specified [RCV004857417] | uncertain significance | 20 | 63547441 | 63547441 | Human | | name |
| 405790007 | CV3330601 | single nucleotide variant | NM_080823.4(SRMS):c.41T>C (p.Phe14Ser) | not specified [RCV004460441] | uncertain significance | 20 | 63547423 | 63547423 | Human | | name |
| 407516656 | CV3474786 | single nucleotide variant | NM_080823.4(SRMS):c.70G>A (p.Gly24Ser) | not specified [RCV004675367] | uncertain significance | 20 | 63547394 | 63547394 | Human | | name |
| 15136623 | CV717138 | single nucleotide variant | NM_080823.4(SRMS):c.564C>T (p.Pro188=) | not provided [RCV000965483] | benign | 20 | 63543395 | 63543395 | Human | | name |
| 155970208 | CV2338039 | single nucleotide variant | NM_080823.4(SRMS):c.142C>A (p.Pro48Thr) | not specified [RCV004186079] | uncertain significance | 20 | 63547322 | 63547322 | Human | | name |
| 156066602 | CV2340912 | single nucleotide variant | NM_080823.4(SRMS):c.194G>A (p.Arg65Gln) | not specified [RCV004181408] | uncertain significance | 20 | 63547270 | 63547270 | Human | | name |
| 156340019 | CV2351697 | single nucleotide variant | NM_080823.4(SRMS):c.268G>A (p.Ala90Thr) | not specified [RCV004195403] | uncertain significance | 20 | 63547196 | 63547196 | Human | | name |
| 401780238 | CV2725947 | single nucleotide variant | NM_080823.4(SRMS):c.211A>G (p.Ser71Gly) | not specified [RCV004324317] | uncertain significance | 20 | 63547253 | 63547253 | Human | | name |
| 407516650 | CV3474784 | single nucleotide variant | NM_080823.4(SRMS):c.295G>A (p.Ala99Thr) | not specified [RCV004675365] | likely benign | 20 | 63547169 | 63547169 | Human | | name |
| 407516653 | CV3474785 | single nucleotide variant | NM_080823.4(SRMS):c.136G>A (p.Ala46Thr) | not specified [RCV004675366] | uncertain significance | 20 | 63547328 | 63547328 | Human | | name |
| 597680528 | CV3611411 | single nucleotide variant | NM_080823.4(SRMS):c.117C>G (p.Asp39Glu) | not specified [RCV004857416] | uncertain significance | 20 | 63547347 | 63547347 | Human | | name |
| 597680542 | CV3611414 | single nucleotide variant | NM_080823.4(SRMS):c.128C>T (p.Thr43Met) | not specified [RCV004857418] | uncertain significance | 20 | 63547336 | 63547336 | Human | | name |
| 597779024 | CV3611422 | single nucleotide variant | NM_080823.4(SRMS):c.257G>C (p.Gly86Ala) | not specified [RCV004873434] | uncertain significance | 20 | 63547207 | 63547207 | Human | | name |
| 156263001 | CV2201131 | single nucleotide variant | NM_080823.4(SRMS):c.841C>T (p.Arg281Trp) | not specified [RCV004077293] | uncertain significance | 20 | 63542268 | 63542268 | Human | | name |
| 156134002 | CV2216946 | single nucleotide variant | NM_080823.4(SRMS):c.517A>G (p.Met173Val) | not specified [RCV004085317] | uncertain significance | 20 | 63543442 | 63543442 | Human | | name |
| 156211333 | CV2259874 | single nucleotide variant | NM_080823.4(SRMS):c.448G>C (p.Glu150Gln) | not specified [RCV004118915] | uncertain significance | 20 | 63544257 | 63544257 | Human | | name |
| 156134487 | CV2260156 | single nucleotide variant | NM_080823.4(SRMS):c.830T>C (p.Leu277Pro) | not specified [RCV004119146] | uncertain significance | 20 | 63542279 | 63542279 | Human | | name |
| 156199780 | CV2313019 | single nucleotide variant | NM_080823.4(SRMS):c.354A>C (p.Gln118His) | not specified [RCV004159517] | uncertain significance | 20 | 63547110 | 63547110 | Human | | name |
| 155926009 | CV2348579 | single nucleotide variant | NM_080823.4(SRMS):c.850C>T (p.Arg284Trp) | not specified [RCV004195808] | uncertain significance | 20 | 63542259 | 63542259 | Human | | name |
| 155996086 | CV2393142 | single nucleotide variant | NM_080823.4(SRMS):c.674G>A (p.Arg225Gln) | not specified [RCV004226619] | uncertain significance | 20 | 63542553 | 63542553 | Human | | name |
| 329369097 | CV2424725 | single nucleotide variant | NM_080823.4(SRMS):c.518T>C (p.Met173Thr) | not specified [RCV004248619] | likely benign | 20 | 63543441 | 63543441 | Human | | name |
| 329396299 | CV2462494 | single nucleotide variant | NM_080823.4(SRMS):c.968G>A (p.Arg323His) | not specified [RCV004276671] | uncertain significance | 20 | 63541599 | 63541599 | Human | | name |
| 329375588 | CV2468700 | single nucleotide variant | NM_080823.4(SRMS):c.460G>A (p.Gly154Arg) | not specified [RCV004280030] | uncertain significance | 20 | 63544245 | 63544245 | Human | | name |
| 401766699 | CV2680120 | single nucleotide variant | NM_080823.4(SRMS):c.958C>T (p.Arg320Trp) | not specified [RCV004286608] | uncertain significance | 20 | 63541609 | 63541609 | Human | | name |
| 401729374 | CV2683659 | single nucleotide variant | NM_080823.4(SRMS):c.883G>A (p.Gly295Arg) | not specified [RCV004284412] | uncertain significance | 20 | 63542226 | 63542226 | Human | | name |
| 401773433 | CV2698212 | single nucleotide variant | NM_080823.4(SRMS):c.457C>T (p.Leu153Phe) | not specified [RCV004304777] | uncertain significance | 20 | 63544248 | 63544248 | Human | | name |
| 401728569 | CV2729662 | single nucleotide variant | NM_080823.4(SRMS):c.685G>A (p.Glu229Lys) | not specified [RCV004331922] | uncertain significance | 20 | 63542542 | 63542542 | Human | | name |
| 401883861 | CV2764697 | single nucleotide variant | NM_080823.4(SRMS):c.967C>T (p.Arg323Cys) | not specified [RCV004334814] | uncertain significance | 20 | 63541600 | 63541600 | Human | | name |
| 405790011 | CV3330602 | single nucleotide variant | NM_080823.4(SRMS):c.439C>T (p.Arg147Trp) | not specified [RCV004460442] | uncertain significance | 20 | 63544266 | 63544266 | Human | | name |
| 405790019 | CV3330604 | single nucleotide variant | NM_080823.4(SRMS):c.484G>C (p.Ala162Pro) | not specified [RCV004460444] | uncertain significance | 20 | 63543475 | 63543475 | Human | | name |
| 405790023 | CV3330605 | single nucleotide variant | NM_080823.4(SRMS):c.554G>A (p.Arg185Gln) | not specified [RCV004460445] | likely benign | 20 | 63543405 | 63543405 | Human | | name |
| 405790027 | CV3330606 | single nucleotide variant | NM_080823.4(SRMS):c.916C>T (p.Arg306Cys) | not specified [RCV004460446] | uncertain significance | 20 | 63542193 | 63542193 | Human | | name |
| 597680522 | CV3611410 | single nucleotide variant | NM_080823.4(SRMS):c.898A>G (p.Ile300Val) | not specified [RCV004857415] | uncertain significance | 20 | 63542211 | 63542211 | Human | | name |
| 597779000 | CV3611412 | single nucleotide variant | NM_080823.4(SRMS):c.440G>A (p.Arg147Gln) | not specified [RCV004873428] | uncertain significance | 20 | 63544265 | 63544265 | Human | | name |
| 597779008 | CV3611416 | single nucleotide variant | NM_080823.4(SRMS):c.341C>T (p.Thr114Met) | not specified [RCV004873430] | uncertain significance | 20 | 63547123 | 63547123 | Human | | name |
| 597680547 | CV3611418 | single nucleotide variant | NM_080823.4(SRMS):c.464G>C (p.Gly155Ala) | not specified [RCV004857419] | uncertain significance | 20 | 63544241 | 63544241 | Human | | name |
| 598239533 | CV3912147 | single nucleotide variant | NM_080823.4(SRMS):c.860G>A (p.Arg287Gln) | not specified [RCV005276034] | uncertain significance | 20 | 63542249 | 63542249 | Human | | name |
| 41405818 | CV982226 | single nucleotide variant | NM_080823.4(SRMS):c.921G>C (p.Lys307Asn) | not provided [RCV001810584] | uncertain significance | 20 | 63542188 | 63542188 | Human | | name |
| 155924228 | CV2211500 | single nucleotide variant | NM_080823.4(SRMS):c.1343C>T (p.Pro448Leu) | not specified [RCV004084410] | uncertain significance | 20 | 63540942 | 63540942 | Human | | name |
| 156261492 | CV2216457 | single nucleotide variant | NM_080823.4(SRMS):c.1340G>A (p.Arg447His) | not specified [RCV004097271] | uncertain significance | 20 | 63540945 | 63540945 | Human | | name |
| 156234759 | CV2245369 | single nucleotide variant | NM_080823.4(SRMS):c.1411C>A (p.Pro471Thr) | not specified [RCV004109164] | uncertain significance | 20 | 63540874 | 63540874 | Human | | name |
| 156362409 | CV2323222 | single nucleotide variant | NM_080823.4(SRMS):c.1036G>A (p.Val346Ile) | not specified [RCV004187614] | likely benign | 20 | 63541531 | 63541531 | Human | | name |
| 155918053 | CV2362490 | single nucleotide variant | NM_080823.4(SRMS):c.1358C>T (p.Ala453Val) | not specified [RCV004213111] | uncertain significance | 20 | 63540927 | 63540927 | Human | | name |
| 155954981 | CV2389856 | single nucleotide variant | NM_080823.4(SRMS):c.1081G>A (p.Gly361Ser) | not specified [RCV004236073] | uncertain significance | 20 | 63541486 | 63541486 | Human | | name |
| 405789981 | CV3330594 | single nucleotide variant | NM_080823.4(SRMS):c.1046G>A (p.Arg349Gln) | not specified [RCV004460434] | uncertain significance | 20 | 63541521 | 63541521 | Human | | name |
| 405789984 | CV3330595 | single nucleotide variant | NM_080823.4(SRMS):c.1066G>A (p.Val356Met) | not specified [RCV004460435] | uncertain significance | 20 | 63541501 | 63541501 | Human | | name |
| 405789988 | CV3330596 | single nucleotide variant | NM_080823.4(SRMS):c.1142C>T (p.Ser381Phe) | not specified [RCV004460436] | uncertain significance | 20 | 63541334 | 63541334 | Human | | name |
| 405789993 | CV3330597 | single nucleotide variant | NM_080823.4(SRMS):c.1195A>G (p.Asn399Asp) | not specified [RCV004460437] | uncertain significance | 20 | 63541281 | 63541281 | Human | | name |
| 405789996 | CV3330598 | single nucleotide variant | NM_080823.4(SRMS):c.1312C>A (p.Gln438Lys) | not specified [RCV004460438] | uncertain significance | 20 | 63540973 | 63540973 | Human | | name |
| 405789999 | CV3330599 | single nucleotide variant | NM_080823.4(SRMS):c.1330C>T (p.Arg444Trp) | not specified [RCV004460439] | uncertain significance | 20 | 63540955 | 63540955 | Human | | name |
| 407516659 | CV3474787 | single nucleotide variant | NM_080823.4(SRMS):c.1342C>G (p.Pro448Ala) | not specified [RCV004675368] | uncertain significance | 20 | 63540943 | 63540943 | Human | | name |
| 597779004 | CV3611415 | single nucleotide variant | NM_080823.4(SRMS):c.1430G>A (p.Arg477Gln) | not specified [RCV004873429] | likely benign | 20 | 63540855 | 63540855 | Human | | name |
| 597779012 | CV3611417 | single nucleotide variant | NM_080823.4(SRMS):c.1043A>T (p.His348Leu) | not specified [RCV004873431] | uncertain significance | 20 | 63541524 | 63541524 | Human | | name |
| 597779016 | CV3611419 | single nucleotide variant | NM_080823.4(SRMS):c.1204G>A (p.Val402Ile) | not specified [RCV004873432] | likely benign | 20 | 63541272 | 63541272 | Human | | name |
| 597680556 | CV3611420 | single nucleotide variant | NM_080823.4(SRMS):c.1455A>C (p.Arg485Ser) | not specified [RCV004857420] | uncertain significance | 20 | 63540830 | 63540830 | Human | | name |
| 597779020 | CV3611421 | single nucleotide variant | NM_080823.4(SRMS):c.1090T>C (p.Cys364Arg) | not specified [RCV004873433] | uncertain significance | 20 | 63541477 | 63541477 | Human | | name |
| 598162873 | CV3912148 | single nucleotide variant | NM_080823.4(SRMS):c.1304C>T (p.Thr435Met) | not specified [RCV005283018] | uncertain significance | 20 | 63540981 | 63540981 | Human | | name |
| 41405695 | CV982225 | single nucleotide variant | NM_080823.4(SRMS):c.1145C>T (p.Pro382Leu) | not provided [RCV001813142]|not specified [RCV004035545] | uncertain significance | 20 | 63541331 | 63541331 | Human | | name |
