Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.99600685C>ACA440330029MTTPc.1188C>A (p.Ala396=)
c.939C>A (p.Ala313=)
c.1269C>A (p.Ala423=)
4g.99600685C>GCA440330031MTTPc.1188C>G (p.Ala396=)
c.939C>G (p.Ala313=)
c.1269C>G (p.Ala423=)
4g.99600685C>TCA440330033MTTPc.1188C>T (p.Ala396=)
c.939C>T (p.Ala313=)
c.1269C>T (p.Ala423=)
4g.99600686T>ACA357508503MTTPc.1189T>A (p.Cys397Ser)
c.940T>A (p.Cys314Ser)
c.1270T>A (p.Cys424Ser)
 dbSNP gnomAD v3 gnomAD v4
4g.99600686T>CCA357508507MTTPc.1189T>C (p.Cys397Arg)
c.940T>C (p.Cys314Arg)
c.1270T>C (p.Cys424Arg)
 gnomAD v4
4g.99600686T>GCA357508504MTTPc.1189T>G (p.Cys397Gly)
c.940T>G (p.Cys314Gly)
c.1270T>G (p.Cys424Gly)
4g.99600686T=CA1480079185MTTPc.1189T= (p.Cys397=)
c.940T= (p.Cys314=)
c.1270T= (p.Cys424=)
4g.99600687G>ACA357508510MTTPc.1190G>A (p.Cys397Tyr)
c.941G>A (p.Cys314Tyr)
c.1271G>A (p.Cys424Tyr)
 dbSNP gnomAD v2 gnomAD v4
4g.99600687G>CCA357508515MTTPc.1190G>C (p.Cys397Ser)
c.941G>C (p.Cys314Ser)
c.1271G>C (p.Cys424Ser)
 gnomAD v4
4g.99600687G=CA1480079186MTTPc.1190G= (p.Cys397=)
c.941G= (p.Cys314=)
c.1271G= (p.Cys424=)
4g.99600687G>TCA357508517MTTPc.1190G>T (p.Cys397Phe)
c.941G>T (p.Cys314Phe)
c.1271G>T (p.Cys424Phe)
4g.99600688T>ACA357508519MTTPc.1191T>A (p.Cys397Ter)
c.942T>A (p.Cys314Ter)
c.1272T>A (p.Cys424Ter)
4g.99600688T>CCA440330036MTTPc.1191T>C (p.Cys397=)
c.942T>C (p.Cys314=)
c.1272T>C (p.Cys424=)
4g.99600688T>GCA357508522MTTPc.1191T>G (p.Cys397Trp)
c.942T>G (p.Cys314Trp)
c.1272T>G (p.Cys424Trp)
4g.99600689G>ACA357508527MTTPc.1192G>A (p.Gly398Arg)
c.943G>A (p.Gly315Arg)
c.1273G>A (p.Gly425Arg)
4g.99600689G>CCA357508525MTTPc.1192G>C (p.Gly398Arg)
c.943G>C (p.Gly315Arg)
c.1273G>C (p.Gly425Arg)
4g.99600689G>TCA357508523MTTPc.1192G>T (p.Gly398Ter)
c.943G>T (p.Gly315Ter)
c.1273G>T (p.Gly425Ter)
4g.99600690G>ACA357508529MTTPc.1193G>A (p.Gly398Glu)
c.944G>A (p.Gly315Glu)
c.1274G>A (p.Gly425Glu)
4g.99600690G>CCA357508530MTTPc.1193G>C (p.Gly398Ala)
c.944G>C (p.Gly315Ala)
c.1274G>C (p.Gly425Ala)
 gnomAD v4 COSMIC
4g.99600690G>TCA357508532MTTPc.1193G>T (p.Gly398Val)
c.944G>T (p.Gly315Val)
c.1274G>T (p.Gly425Val)
4g.99600691A>CCA440330038MTTPc.1194A>C (p.Gly398=)
c.945A>C (p.Gly315=)
c.1275A>C (p.Gly425=)
4g.99600691A>GCA440330039MTTPc.1194A>G (p.Gly398=)
c.945A>G (p.Gly315=)
c.1275A>G (p.Gly425=)
4g.99600691A>TCA440330040MTTPc.1194A>T (p.Gly398=)
c.945A>T (p.Gly315=)
c.1275A>T (p.Gly425=)
4g.99600691_99600692delinsATCA1480079187MTTPc.1194_1195delinsAT (p.Gly398=)
c.945_946delinsAT (p.Gly315=)
c.1275_1276delinsAT (p.Gly425=)
4g.99600692T>ACA357508535MTTPc.1195T>A (p.Phe399Ile)
c.946T>A (p.Phe316Ile)
c.1276T>A (p.Phe426Ile)
4g.99600692T>CCA357508537MTTPc.1195T>C (p.Phe399Leu)
c.946T>C (p.Phe316Leu)
c.1276T>C (p.Phe426Leu)
4g.99600692T>GCA357508539MTTPc.1195T>G (p.Phe399Val)
c.946T>G (p.Phe316Val)
c.1276T>G (p.Phe426Val)
4g.99600694delCA553568413MTTPc.1197del (p.Phe399LeufsTer10)
c.948del (p.Phe316LeufsTer10)
c.1278del (p.Phe426LeufsTer10)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.99600693T>ACA357508540MTTPc.1196T>A (p.Phe399Tyr)
c.947T>A (p.Phe316Tyr)
c.1277T>A (p.Phe426Tyr)
4g.99600693T>CCA357508543MTTPc.1196T>C (p.Phe399Ser)
c.947T>C (p.Phe316Ser)
c.1277T>C (p.Phe426Ser)
 gnomAD v4
4g.99600693T>GCA3022045MTTPc.1196T>G (p.Phe399Cys)
c.947T>G (p.Phe316Cys)
c.1277T>G (p.Phe426Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99600693T=CA1480079188MTTPc.1196T= (p.Phe399=)
c.947T= (p.Phe316=)
c.1277T= (p.Phe426=)
4g.99600694T>ACA357508545MTTPc.1197T>A (p.Phe399Leu)
c.948T>A (p.Phe316Leu)
c.1278T>A (p.Phe426Leu)
4g.99600694T>CCA440330042MTTPc.1197T>C (p.Phe399=)
c.948T>C (p.Phe316=)
c.1278T>C (p.Phe426=)
4g.99600694T>GCA357508547MTTPc.1197T>G (p.Phe399Leu)
c.948T>G (p.Phe316Leu)
c.1278T>G (p.Phe426Leu)
4g.99600695G>ACA357508549MTTPc.1198G>A (p.Ala400Thr)
c.949G>A (p.Ala317Thr)
c.1279G>A (p.Ala427Thr)
4g.99600695G>CCA357508551MTTPc.1198G>C (p.Ala400Pro)
c.949G>C (p.Ala317Pro)
c.1279G>C (p.Ala427Pro)
4g.99600695G>TCA357508552MTTPc.1198G>T (p.Ala400Ser)
c.949G>T (p.Ala317Ser)
c.1279G>T (p.Ala427Ser)
4g.99600696C>ACA357508554MTTPc.1199C>A (p.Ala400Asp)
c.950C>A (p.Ala317Asp)
c.1280C>A (p.Ala427Asp)
 COSMIC
4g.99600696C=CA1480079189MTTPc.1199C= (p.Ala400=)
c.950C= (p.Ala317=)
c.1280C= (p.Ala427=)
4g.99600696C>GCA357508556MTTPc.1199C>G (p.Ala400Gly)
c.950C>G (p.Ala317Gly)
c.1280C>G (p.Ala427Gly)
4g.99600696C>TCA357508558MTTPc.1199C>T (p.Ala400Val)
c.950C>T (p.Ala317Val)
c.1280C>T (p.Ala427Val)
 dbSNP gnomAD v4
4g.99600697T>ACA440330044MTTPc.1200T>A (p.Ala400=)
c.951T>A (p.Ala317=)
c.1281T>A (p.Ala427=)
4g.99600697T>CCA440330045MTTPc.1200T>C (p.Ala400=)
c.951T>C (p.Ala317=)
c.1281T>C (p.Ala427=)
4g.99600697T>GCA440330046MTTPc.1200T>G (p.Ala400=)
c.951T>G (p.Ala317=)
c.1281T>G (p.Ala427=)
4g.99600698T>ACA357508560MTTPc.1201T>A (p.Ser401Thr)
c.952T>A (p.Ser318Thr)
c.1282T>A (p.Ser428Thr)
4g.99600698T>CCA357508562MTTPc.1201T>C (p.Ser401Pro)
c.952T>C (p.Ser318Pro)
c.1282T>C (p.Ser428Pro)
4g.99600698T>GCA357508563MTTPc.1201T>G (p.Ser401Ala)
c.952T>G (p.Ser318Ala)
c.1282T>G (p.Ser428Ala)
4g.99600699C>ACA357508570MTTPc.1202C>A (p.Ser401Tyr)
c.953C>A (p.Ser318Tyr)
c.1283C>A (p.Ser428Tyr)
 COSMIC
4g.99600699C>GCA357508566MTTPc.1202C>G (p.Ser401Cys)
c.953C>G (p.Ser318Cys)
c.1283C>G (p.Ser428Cys)
4g.99600699C>TCA357508568MTTPc.1202C>T (p.Ser401Phe)
c.953C>T (p.Ser318Phe)
c.1283C>T (p.Ser428Phe)
4g.99600700T>ACA440330049MTTPc.1203T>A (p.Ser401=)
c.954T>A (p.Ser318=)
c.1284T>A (p.Ser428=)
4g.99600700T>CCA440330050MTTPc.1203T>C (p.Ser401=)
c.954T>C (p.Ser318=)
c.1284T>C (p.Ser428=)
4g.99600700T>GCA440330051MTTPc.1203T>G (p.Ser401=)
c.954T>G (p.Ser318=)
c.1284T>G (p.Ser428=)
4g.99600701C>ACA357508571MTTPc.1204C>A (p.His402Asn)
c.955C>A (p.His319Asn)
c.1285C>A (p.His429Asn)
4g.99600701C=CA1480079190MTTPc.1204C= (p.His402=)
c.955C= (p.His319=)
c.1285C= (p.His429=)
4g.99600701C>GCA357508574MTTPc.1204C>G (p.His402Asp)
c.955C>G (p.His319Asp)
c.1285C>G (p.His429Asp)
4g.99600701C>TCA357508577MTTPc.1204C>T (p.His402Tyr)
c.955C>T (p.His319Tyr)
c.1285C>T (p.His429Tyr)
 ClinVar dbSNP gnomAD v4
4g.99600702A>CCA357508578MTTPc.1205A>C (p.His402Pro)
c.956A>C (p.His319Pro)
c.1286A>C (p.His429Pro)
4g.99600702A>GCA357508580MTTPc.1205A>G (p.His402Arg)
c.956A>G (p.His319Arg)
c.1286A>G (p.His429Arg)
4g.99600702A>TCA357508582MTTPc.1205A>T (p.His402Leu)
c.956A>T (p.His319Leu)
c.1286A>T (p.His429Leu)
4g.99600703T>ACA357508586MTTPc.1206T>A (p.His402Gln)
c.957T>A (p.His319Gln)
c.1287T>A (p.His429Gln)
4g.99600703T>CCA440330055MTTPc.1206T>C (p.His402=)
c.957T>C (p.His319=)
c.1287T>C (p.His429=)
4g.99600703T>GCA357508584MTTPc.1206T>G (p.His402Gln)
c.957T>G (p.His319Gln)
c.1287T>G (p.His429Gln)
4g.99600704C>ACA357508589MTTPc.1207C>A (p.Pro403Thr)
c.958C>A (p.Pro320Thr)
c.1288C>A (p.Pro430Thr)
 dbSNP gnomAD v3 gnomAD v4
4g.99600704C=CA1480079191MTTPc.1207C= (p.Pro403=)
c.958C= (p.Pro320=)
c.1288C= (p.Pro430=)
4g.99600704C>GCA357508591MTTPc.1207C>G (p.Pro403Ala)
c.958C>G (p.Pro320Ala)
c.1288C>G (p.Pro430Ala)
4g.99600704C>TCA357508592MTTPc.1207C>T (p.Pro403Ser)
c.958C>T (p.Pro320Ser)
c.1288C>T (p.Pro430Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99600705C>ACA357508594MTTPc.1208C>A (p.Pro403His)
c.959C>A (p.Pro320His)
c.1289C>A (p.Pro430His)
4g.99600705C>GCA357508596MTTPc.1208C>G (p.Pro403Arg)
c.959C>G (p.Pro320Arg)
c.1289C>G (p.Pro430Arg)
4g.99600705C>TCA357508598MTTPc.1208C>T (p.Pro403Leu)
c.959C>T (p.Pro320Leu)
c.1289C>T (p.Pro430Leu)
4g.99600706C>ACA440330060MTTPc.1209C>A (p.Pro403=)
c.960C>A (p.Pro320=)
c.1290C>A (p.Pro430=)
4g.99600706C>GCA440330058MTTPc.1209C>G (p.Pro403=)
c.960C>G (p.Pro320=)
c.1290C>G (p.Pro430=)
 COSMIC
4g.99600706C>TCA440330059MTTPc.1209C>T (p.Pro403=)
c.960C>T (p.Pro320=)
c.1290C>T (p.Pro430=)
 ClinVar gnomAD v4
4g.99600707A=CA1480079192MTTPc.1210A= (p.Asn404=)
c.961A= (p.Asn321=)
c.1291A= (p.Asn431=)
4g.99600707A>CCA357508603MTTPc.1210A>C (p.Asn404His)
c.961A>C (p.Asn321His)
c.1291A>C (p.Asn431His)
4g.99600707A>GCA3022046MTTPc.1210A>G (p.Asn404Asp)
c.961A>G (p.Asn321Asp)
c.1291A>G (p.Asn431Asp)
 dbSNP ExAC gnomAD v2
4g.99600707A>TCA357508601MTTPc.1210A>T (p.Asn404Tyr)
c.961A>T (p.Asn321Tyr)
c.1291A>T (p.Asn431Tyr)
4g.99600708A=CA1480079193MTTPc.1211A= (p.Asn404=)
c.962A= (p.Asn321=)
c.1292A= (p.Asn431=)
4g.99600708A>CCA357508605MTTPc.1211A>C (p.Asn404Thr)
c.962A>C (p.Asn321Thr)
c.1292A>C (p.Asn431Thr)
4g.99600708A>GCA3022047MTTPc.1211A>G (p.Asn404Ser)
c.962A>G (p.Asn321Ser)
c.1292A>G (p.Asn431Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99600708A>TCA357508606MTTPc.1211A>T (p.Asn404Ile)
c.962A>T (p.Asn321Ile)
c.1292A>T (p.Asn431Ile)
4g.99600709T>ACA357508608MTTPc.1212T>A (p.Asn404Lys)
c.963T>A (p.Asn321Lys)
c.1293T>A (p.Asn431Lys)
4g.99600709T>CCA440330062MTTPc.1212T>C (p.Asn404=)
c.963T>C (p.Asn321=)
c.1293T>C (p.Asn431=)
4g.99600709T>GCA357508609MTTPc.1212T>G (p.Asn404Lys)
c.963T>G (p.Asn321Lys)
c.1293T>G (p.Asn431Lys)
4g.99600710G>ACA357508612MTTPc.1213G>A (p.Glu405Lys)
c.964G>A (p.Glu322Lys)
c.1294G>A (p.Glu432Lys)
 dbSNP gnomAD v2 gnomAD v4
4g.99600710G>CCA357508614MTTPc.1213G>C (p.Glu405Gln)
c.964G>C (p.Glu322Gln)
c.1294G>C (p.Glu432Gln)
4g.99600710G=CA1480079194MTTPc.1213G= (p.Glu405=)
c.964G= (p.Glu322=)
c.1294G= (p.Glu432=)
4g.99600710G>TCA357508615MTTPc.1213G>T (p.Glu405Ter)
c.964G>T (p.Glu322Ter)
c.1294G>T (p.Glu432Ter)
4g.99600711A>CCA357508618MTTPc.1214A>C (p.Glu405Ala)
c.965A>C (p.Glu322Ala)
c.1295A>C (p.Glu432Ala)
4g.99600711A>GCA357508621MTTPc.1214A>G (p.Glu405Gly)
c.965A>G (p.Glu322Gly)
c.1295A>G (p.Glu432Gly)
4g.99600711A>TCA357508623MTTPc.1214A>T (p.Glu405Val)
c.965A>T (p.Glu322Val)
c.1295A>T (p.Glu432Val)
4g.99600712A>CCA357508625MTTPc.1215A>C (p.Glu405Asp)
c.966A>C (p.Glu322Asp)
c.1296A>C (p.Glu432Asp)
4g.99600712A>GCA440330066MTTPc.1215A>G (p.Glu405=)
c.966A>G (p.Glu322=)
c.1296A>G (p.Glu432=)
4g.99600712A>TCA357508627MTTPc.1215A>T (p.Glu405Asp)
c.966A>T (p.Glu322Asp)
c.1296A>T (p.Glu432Asp)
4g.99600713G>ACA357508629MTTPc.1216G>A (p.Glu406Lys)
c.967G>A (p.Glu323Lys)
c.1297G>A (p.Glu433Lys)
4g.99600713G>CCA357508633MTTPc.1216G>C (p.Glu406Gln)
c.967G>C (p.Glu323Gln)
c.1297G>C (p.Glu433Gln)
4g.99600713G>TCA357508631MTTPc.1216G>T (p.Glu406Ter)
c.967G>T (p.Glu323Ter)
c.1297G>T (p.Glu433Ter)
4g.99600714A>CCA357508635MTTPc.1217A>C (p.Glu406Ala)
c.968A>C (p.Glu323Ala)
c.1298A>C (p.Glu433Ala)
4g.99600714A>GCA357508637MTTPc.1217A>G (p.Glu406Gly)
c.968A>G (p.Glu323Gly)
c.1298A>G (p.Glu433Gly)
4g.99600714A>TCA357508639MTTPc.1217A>T (p.Glu406Val)
c.968A>T (p.Glu323Val)
c.1298A>T (p.Glu433Val)
 gnomAD v4
4g.99600715A=CA1480079195MTTPc.1218A= (p.Glu406=)
c.969A= (p.Glu323=)
c.1299A= (p.Glu433=)
4g.99600715A>CCA357508641MTTPc.1218A>C (p.Glu406Asp)
c.969A>C (p.Glu323Asp)
c.1299A>C (p.Glu433Asp)
4g.99600715A>GCA440330070MTTPc.1218A>G (p.Glu406=)
c.969A>G (p.Glu323=)
c.1299A>G (p.Glu433=)
4g.99600715A>TCA3022048MTTPc.1218A>T (p.Glu406Asp)
c.969A>T (p.Glu323Asp)
c.1299A>T (p.Glu433Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99600715_99600718delinsACTCCA1480079196MTTPc.1218_1221delinsACTC (p.Glu406=)
c.969_972delinsACTC (p.Glu323=)
c.1299_1302delinsACTC (p.Glu433=)
4g.99600716C>ACA3022050MTTPc.1219C>A (p.Leu407Ile)
c.970C>A (p.Leu324Ile)
c.1300C>A (p.Leu434Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99600716C=CA1480079197MTTPc.1219C= (p.Leu407=)
c.970C= (p.Leu324=)
c.1300C= (p.Leu434=)
4g.99600716C>GCA357508645MTTPc.1219C>G (p.Leu407Val)
c.970C>G (p.Leu324Val)
c.1300C>G (p.Leu434Val)
4g.99600716C>TCA3022049MTTPc.1219C>T (p.Leu407Phe)
c.970C>T (p.Leu324Phe)
c.1300C>T (p.Leu434Phe)
 dbSNP ExAC
4g.99600718_99600720delCA553568414MTTPc.1221_1223del (p.Leu408del)
c.972_974del (p.Leu325del)
c.1302_1304del (p.Leu435del)
 dbSNP gnomAD v2 gnomAD v4
4g.99600717T>ACA357508648MTTPc.1220T>A (p.Leu407His)
c.971T>A (p.Leu324His)
c.1301T>A (p.Leu434His)
4g.99600717T>CCA357508649MTTPc.1220T>C (p.Leu407Pro)
c.971T>C (p.Leu324Pro)
c.1301T>C (p.Leu434Pro)
 ClinVar
4g.99600717T>GCA357508651MTTPc.1220T>G (p.Leu407Arg)
c.971T>G (p.Leu324Arg)
c.1301T>G (p.Leu434Arg)
4g.99600718C>ACA440330072MTTPc.1221C>A (p.Leu407=)
c.972C>A (p.Leu324=)
c.1302C>A (p.Leu434=)
4g.99600718C=CA1480079198MTTPc.1221C= (p.Leu407=)
c.972C= (p.Leu324=)
c.1302C= (p.Leu434=)
4g.99600718C>GCA440330073MTTPc.1221C>G (p.Leu407=)
c.972C>G (p.Leu324=)
c.1302C>G (p.Leu434=)
4g.99600718C>TCA3022051MTTPc.1221C>T (p.Leu407=)
c.972C>T (p.Leu324=)
c.1302C>T (p.Leu434=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99600719C>ACA357508654MTTPc.1222C>A (p.Leu408Met)
c.973C>A (p.Leu325Met)
c.1303C>A (p.Leu435Met)
4g.99600719C>GCA357508655MTTPc.1222C>G (p.Leu408Val)
c.973C>G (p.Leu325Val)
c.1303C>G (p.Leu435Val)
4g.99600719C>TCA440330074MTTPc.1222C>T (p.Leu408=)
c.973C>T (p.Leu325=)
c.1303C>T (p.Leu435=)
 ClinVar dbSNP COSMIC
4g.99600720T>ACA357508658MTTPc.1223T>A (p.Leu408Gln)
c.974T>A (p.Leu325Gln)
c.1304T>A (p.Leu435Gln)
4g.99600720T>CCA357508662MTTPc.1223T>C (p.Leu408Pro)
c.974T>C (p.Leu325Pro)
c.1304T>C (p.Leu435Pro)
4g.99600720T>GCA357508660MTTPc.1223T>G (p.Leu408Arg)
c.974T>G (p.Leu325Arg)
c.1304T>G (p.Leu435Arg)
 COSMIC
4g.99600721G>ACA440330076MTTPc.1224G>A (p.Leu408=)
c.975G>A (p.Leu325=)
c.1305G>A (p.Leu435=)
4g.99600721G>CCA440330077MTTPc.1224G>C (p.Leu408=)
c.975G>C (p.Leu325=)
c.1305G>C (p.Leu435=)
4g.99600721G>TCA440330078MTTPc.1224G>T (p.Leu408=)
c.975G>T (p.Leu325=)
c.1305G>T (p.Leu435=)
4g.99600724_99600725delCA2578152334MTTPc.1227_1228del (p.Arg409SerfsTer4)
c.978_979del (p.Arg326SerfsTer4)
c.1308_1309del (p.Arg436SerfsTer4)
4g.99600722A>CCA440330079MTTPc.1225A>C (p.Arg409=)
c.976A>C (p.Arg326=)
c.1306A>C (p.Arg436=)
4g.99600722A>GCA357508663MTTPc.1225A>G (p.Arg409Gly)
c.976A>G (p.Arg326Gly)
c.1306A>G (p.Arg436Gly)
4g.99600722A>TCA357508665MTTPc.1225A>T (p.Arg409Ter)
c.976A>T (p.Arg326Ter)
c.1306A>T (p.Arg436Ter)
4g.99600723G>ACA357508668MTTPc.1226G>A (p.Arg409Lys)
c.977G>A (p.Arg326Lys)
c.1307G>A (p.Arg436Lys)
 gnomAD v4
4g.99600723G>CCA357508670MTTPc.1226G>C (p.Arg409Thr)
c.977G>C (p.Arg326Thr)
c.1307G>C (p.Arg436Thr)
4g.99600723G>TCA357508672MTTPc.1226G>T (p.Arg409Ile)
c.977G>T (p.Arg326Ile)
c.1307G>T (p.Arg436Ile)
4g.99600723_99600724delinsTTCA2573138379MTTPc.1226_1227delinsTT (p.Arg409Ile)
c.977_978delinsTT (p.Arg326Ile)
c.1307_1308delinsTT (p.Arg436Ile)
 ClinVar dbSNP
4g.99600724A>CCA357508674MTTPc.1227A>C (p.Arg409Ser)
c.978A>C (p.Arg326Ser)
c.1308A>C (p.Arg436Ser)
4g.99600724A>GCA440330080MTTPc.1227A>G (p.Arg409=)
c.978A>G (p.Arg326=)
c.1308A>G (p.Arg436=)
4g.99600724A>TCA357508676MTTPc.1227A>T (p.Arg409Ser)
c.978A>T (p.Arg326Ser)
c.1308A>T (p.Arg436Ser)
4g.99600725G>ACA102631571MTTPc.1228G>A (p.Ala410Thr)
c.979G>A (p.Ala327Thr)
c.1309G>A (p.Ala437Thr)
 dbSNP gnomAD v2 gnomAD v4
4g.99600725G>CCA357508679MTTPc.1228G>C (p.Ala410Pro)
c.979G>C (p.Ala327Pro)
c.1309G>C (p.Ala437Pro)
4g.99600725G=CA1480079199MTTPc.1228G= (p.Ala410=)
c.979G= (p.Ala327=)
c.1309G= (p.Ala437=)
4g.99600725G>TCA357508682MTTPc.1228G>T (p.Ala410Ser)
c.979G>T (p.Ala327Ser)
c.1309G>T (p.Ala437Ser)
4g.99600725_99600727delinsGCCCA1480079200MTTPc.1228_1230delinsGCC (p.Ala410=)
c.979_981delinsGCC (p.Ala327=)
c.1309_1311delinsGCC (p.Ala437=)
4g.99600726C>ACA357508684MTTPc.1229C>A (p.Ala410Asp)
c.980C>A (p.Ala327Asp)
c.1310C>A (p.Ala437Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.99600726C=CA1480079202MTTPc.1229C= (p.Ala410=)
c.980C= (p.Ala327=)
c.1310C= (p.Ala437=)
4g.99600726C>GCA357508686MTTPc.1229C>G (p.Ala410Gly)
c.980C>G (p.Ala327Gly)
c.1310C>G (p.Ala437Gly)
4g.99600726C>TCA357508685MTTPc.1229C>T (p.Ala410Val)
c.980C>T (p.Ala327Val)
c.1310C>T (p.Ala437Val)
4g.99600726_99600728delinsTCA2695203659MTTPc.1229_1231delinsT (p.Ala410ValfsTer3)
c.980_982delinsT (p.Ala327ValfsTer3)
c.1310_1312delinsT (p.Ala437ValfsTer3)
4g.99600727_99600728delCA1480079201MTTPc.1230_1231del (p.Leu411HisfsTer2)
c.981_982del (p.Leu328HisfsTer2)
c.1311_1312del (p.Leu438HisfsTer2)
 ClinVar dbSNP gnomAD v4
4g.99600727C>ACA440330082MTTPc.1230C>A (p.Ala410=)
c.981C>A (p.Ala327=)
c.1311C>A (p.Ala437=)
4g.99600727C>GCA440330084MTTPc.1230C>G (p.Ala410=)
c.981C>G (p.Ala327=)
c.1311C>G (p.Ala437=)
 gnomAD v4
4g.99600727C>TCA440330083MTTPc.1230C>T (p.Ala410=)
c.981C>T (p.Ala327=)
c.1311C>T (p.Ala437=)
 ClinVar
4g.99600728C>ACA357508687MTTPc.1231C>A (p.Leu411Ile)
c.982C>A (p.Leu328Ile)
c.1312C>A (p.Leu438Ile)
4g.99600728C=CA1480079203MTTPc.1231C= (p.Leu411=)
c.982C= (p.Leu328=)
c.1312C= (p.Leu438=)
4g.99600728C>GCA357508691MTTPc.1231C>G (p.Leu411Val)
c.982C>G (p.Leu328Val)
c.1312C>G (p.Leu438Val)
 gnomAD v4
4g.99600728C>TCA357508689MTTPc.1231C>T (p.Leu411Phe)
c.982C>T (p.Leu328Phe)
c.1312C>T (p.Leu438Phe)
 dbSNP gnomAD v4
4g.99600729T>ACA357508693MTTPc.1232T>A (p.Leu411His)
c.983T>A (p.Leu328His)
c.1313T>A (p.Leu438His)
4g.99600729T>CCA357508697MTTPc.1232T>C (p.Leu411Pro)
c.983T>C (p.Leu328Pro)
c.1313T>C (p.Leu438Pro)
4g.99600729T>GCA357508695MTTPc.1232T>G (p.Leu411Arg)
c.983T>G (p.Leu328Arg)
c.1313T>G (p.Leu438Arg)
4g.99600730C>ACA440330086MTTPc.1233C>A (p.Leu411=)
c.984C>A (p.Leu328=)
c.1314C>A (p.Leu438=)
4g.99600730C=CA1480079204MTTPc.1233C= (p.Leu411=)
c.984C= (p.Leu328=)
c.1314C= (p.Leu438=)
4g.99600730C>GCA440330087MTTPc.1233C>G (p.Leu411=)
c.984C>G (p.Leu328=)
c.1314C>G (p.Leu438=)
 dbSNP gnomAD v2 gnomAD v4
4g.99600730C>TCA440330088MTTPc.1233C>T (p.Leu411=)
c.984C>T (p.Leu328=)
c.1314C>T (p.Leu438=)
 ClinVar dbSNP gnomAD v4
4g.99600731A=CA1480079205MTTPc.1234A= (p.Ile412=)
c.985A= (p.Ile329=)
c.1315A= (p.Ile439=)
4g.99600731A>CCA357508699MTTPc.1234A>C (p.Ile412Leu)
c.985A>C (p.Ile329Leu)
c.1315A>C (p.Ile439Leu)
 dbSNP gnomAD v2 gnomAD v4
4g.99600731A>GCA357508701MTTPc.1234A>G (p.Ile412Val)
c.985A>G (p.Ile329Val)
c.1315A>G (p.Ile439Val)
4g.99600731A>TCA357508703MTTPc.1234A>T (p.Ile412Phe)
c.985A>T (p.Ile329Phe)
c.1315A>T (p.Ile439Phe)
4g.99600732T>ACA3022052MTTPc.1235T>A (p.Ile412Asn)
c.986T>A (p.Ile329Asn)
c.1316T>A (p.Ile439Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99600732T>CCA357508706MTTPc.1235T>C (p.Ile412Thr)
c.986T>C (p.Ile329Thr)
c.1316T>C (p.Ile439Thr)
 dbSNP gnomAD v4
4g.99600732T>GCA357508709MTTPc.1235T>G (p.Ile412Ser)
c.986T>G (p.Ile329Ser)
c.1316T>G (p.Ile439Ser)
4g.99600732T=CA1480079206MTTPc.1235T= (p.Ile412=)
c.986T= (p.Ile329=)
c.1316T= (p.Ile439=)
4g.99600733T>ACA440330091MTTPc.1236T>A (p.Ile412=)
c.987T>A (p.Ile329=)
c.1317T>A (p.Ile439=)
4g.99600733T>CCA440330093MTTPc.1236T>C (p.Ile412=)
c.987T>C (p.Ile329=)
c.1317T>C (p.Ile439=)
4g.99600733T>GCA357508711MTTPc.1236T>G (p.Ile412Met)
c.987T>G (p.Ile329Met)
c.1317T>G (p.Ile439Met)
 gnomAD v4
4g.99600733_99600734insACA2762812119MTTPc.1236_1236+1insA (n.1236_1236+1insA)
c.987_987+1insA (n.987_987+1insA)
c.1317_1317+1insA (n.1317_1317+1insA)
4g.99600734G>ACA3022053MTTPc.1236+1G>A (n.1236+1G>A)
c.987+1G>A (n.987+1G>A)
c.1317+1G>A (n.1317+1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.99600734G>CCA357508714MTTPc.1236+1G>C (n.1236+1G>C)
c.987+1G>C (n.987+1G>C)
c.1317+1G>C (n.1317+1G>C)
4g.99600734G=CA1480079207MTTPc.1236+1G= (n.1236+1G=)
c.987+1G= (n.987+1G=)
c.1317+1G= (n.1317+1G=)
4g.99600734G>TCA16020710MTTPc.1236+1G>T (n.1236+1G>T)
c.987+1G>T (n.987+1G>T)
c.1317+1G>T (n.1317+1G>T)
 ClinVar dbSNP gnomAD v4
4g.99600735T>ACA357508715MTTPc.1236+2T>A (n.1236+2T>A)
c.987+2T>A (n.987+2T>A)
c.1317+2T>A (n.1317+2T>A)
 gnomAD v4
4g.99600735T>CCA357508716MTTPc.1236+2T>C (n.1236+2T>C)
c.987+2T>C (n.987+2T>C)
c.1317+2T>C (n.1317+2T>C)
4g.99600735T>GCA357508718MTTPc.1236+2T>G (n.1236+2T>G)
c.987+2T>G (n.987+2T>G)
c.1317+2T>G (n.1317+2T>G)
4g.99600735dupCA2740557550MTTPc.1236+2dup (n.1236+2dup)
c.987+2dup (n.987+2dup)
c.1317+2dup (n.1317+2dup)
4g.99600740C>ACA2671534168MTTPc.1236+7C>A (n.1236+7C>A)
c.987+7C>A (n.987+7C>A)
c.1317+7C>A (n.1317+7C>A)
 gnomAD v4
4g.99600740C>GCA2499217359MTTPc.1236+7C>G (n.1236+7C>G)
c.987+7C>G (n.987+7C>G)
c.1317+7C>G (n.1317+7C>G)
 ClinVar dbSNP
4g.99600742A=CA1480079208MTTPc.1236+9A= (n.1236+9A=)
c.987+9A= (n.987+9A=)
c.1317+9A= (n.1317+9A=)
4g.99600742A>GCA1480079209MTTPc.1236+9A>G (n.1236+9A>G)
c.987+9A>G (n.987+9A>G)
c.1317+9A>G (n.1317+9A>G)
 dbSNP
4g.99600744T>CCA3022054MTTPc.1236+11T>C (n.1236+11T>C)
c.987+11T>C (n.987+11T>C)
c.1317+11T>C (n.1317+11T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99600744T=CA1480079210MTTPc.1236+11T= (n.1236+11T=)
c.987+11T= (n.987+11T=)
c.1317+11T= (n.1317+11T=)
4g.99600745A=CA1480079211MTTPc.1236+12A= (n.1236+12A=)
c.987+12A= (n.987+12A=)
c.1317+12A= (n.1317+12A=)
4g.99600745A>GCA3022055MTTPc.1236+12A>G (n.1236+12A>G)
c.987+12A>G (n.987+12A>G)
c.1317+12A>G (n.1317+12A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.99600747A=CA1480079212MTTPc.1236+14A= (n.1236+14A=)
c.987+14A= (n.987+14A=)
c.1317+14A= (n.1317+14A=)
4g.99600747A>GCA553568415MTTPc.1236+14A>G (n.1236+14A>G)
c.987+14A>G (n.987+14A>G)
c.1317+14A>G (n.1317+14A>G)
 dbSNP gnomAD v2 gnomAD v4
4g.99600751T>CCA2553875259MTTPc.1236+18T>C (n.1236+18T>C)
c.987+18T>C (n.987+18T>C)
c.1317+18T>C (n.1317+18T>C)
 gnomAD v4
4g.99600752A>GCA2578152335MTTPc.1236+19A>G (n.1236+19A>G)
c.987+19A>G (n.987+19A>G)
c.1317+19A>G (n.1317+19A>G)
4g.99600753_99600754delCA2762812123MTTPc.1236+20_1236+21del (n.1236+20_1236+21del)
c.987+20_987+21del (n.987+20_987+21del)
c.1317+20_1317+21del (n.1317+20_1317+21del)
4g.99600754A=CA1480079213MTTPc.1236+21A= (n.1236+21A=)
c.987+21A= (n.987+21A=)
c.1317+21A= (n.1317+21A=)
4g.99600754A>GCA3022056MTTPc.1236+21A>G (n.1236+21A>G)
c.987+21A>G (n.987+21A>G)
c.1317+21A>G (n.1317+21A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99600756A>GCA2578152336MTTPc.1236+23A>G (n.1236+23A>G)
c.987+23A>G (n.987+23A>G)
c.1317+23A>G (n.1317+23A>G)
 gnomAD v4
4g.99600757C>ACA2671534169MTTPc.1236+24C>A (n.1236+24C>A)
c.987+24C>A (n.987+24C>A)
c.1317+24C>A (n.1317+24C>A)
 gnomAD v4
4g.99600757C>TCA2762812130MTTPc.1236+24C>T (n.1236+24C>T)
c.987+24C>T (n.987+24C>T)
c.1317+24C>T (n.1317+24C>T)
4g.99600758_99600759delCA2762812129MTTPc.1236+25_1236+26del (n.1236+25_1236+26del)
c.987+25_987+26del (n.987+25_987+26del)
c.1317+25_1317+26del (n.1317+25_1317+26del)
4g.99600758_99600761delCA2762812131MTTPc.1236+25_1236+28del (n.1236+25_1236+28del)
c.987+25_987+28del (n.987+25_987+28del)
c.1317+25_1317+28del (n.1317+25_1317+28del)
4g.99600758C>ACA3022057MTTPc.1236+25C>A (n.1236+25C>A)
c.987+25C>A (n.987+25C>A)
c.1317+25C>A (n.1317+25C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99600758C=CA1480079214MTTPc.1236+25C= (n.1236+25C=)
c.987+25C= (n.987+25C=)
c.1317+25C= (n.1317+25C=)
4g.99600758C>GCA3022058MTTPc.1236+25C>G (n.1236+25C>G)
c.987+25C>G (n.987+25C>G)
c.1317+25C>G (n.1317+25C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99600759_99600760insAGACA2762812136MTTPc.1236+26_1236+27insAGA (n.1236+26_1236+27insAGA)
c.987+26_987+27insAGA (n.987+26_987+27insAGA)
c.1317+26_1317+27insAGA (n.1317+26_1317+27insAGA)
4g.99600760T>ACA2762812137MTTPc.1236+27T>A (n.1236+27T>A)
c.987+27T>A (n.987+27T>A)
c.1317+27T>A (n.1317+27T>A)
4g.99600760T>CCA1480079215MTTPc.1236+27T>C (n.1236+27T>C)
c.987+27T>C (n.987+27T>C)
c.1317+27T>C (n.1317+27T>C)
 dbSNP gnomAD v4
4g.99600760T=CA1480079216MTTPc.1236+27T= (n.1236+27T=)
c.987+27T= (n.987+27T=)
c.1317+27T= (n.1317+27T=)
4g.99600760_99600762delCA2578152337MTTPc.1236+27_1236+29del (n.1236+27_1236+29del)
c.987+27_987+29del (n.987+27_987+29del)
c.1317+27_1317+29del (n.1317+27_1317+29del)
4g.99600761C>ACA102631656MTTPc.1236+28C>A (n.1236+28C>A)
c.987+28C>A (n.987+28C>A)
c.1317+28C>A (n.1317+28C>A)
 dbSNP gnomAD v3 gnomAD v4
4g.99600761C=CA1480079217MTTPc.1236+28C= (n.1236+28C=)
c.987+28C= (n.987+28C=)
c.1317+28C= (n.1317+28C=)
4g.99600761C>GCA3022059MTTPc.1236+28C>G (n.1236+28C>G)
c.987+28C>G (n.987+28C>G)
c.1317+28C>G (n.1317+28C>G)
 dbSNP ExAC gnomAD v2
4g.99600761C>TCA553568422MTTPc.1236+28C>T (n.1236+28C>T)
c.987+28C>T (n.987+28C>T)
c.1317+28C>T (n.1317+28C>T)
 dbSNP gnomAD v2
4g.99600762A>GCA2671534170MTTPc.1236+29A>G (n.1236+29A>G)
c.987+29A>G (n.987+29A>G)
c.1317+29A>G (n.1317+29A>G)
 gnomAD v4
4g.99600763delCA2762812139MTTPc.1236+30del (n.1236+30del)
c.987+30del (n.987+30del)
c.1317+30del (n.1317+30del)
4g.99600763A>GCA2671534171MTTPc.1236+30A>G (n.1236+30A>G)
c.987+30A>G (n.987+30A>G)
c.1317+30A>G (n.1317+30A>G)
 gnomAD v4
4g.99600764C>ACA553568423MTTPc.1236+31C>A (n.1236+31C>A)
c.987+31C>A (n.987+31C>A)
c.1317+31C>A (n.1317+31C>A)
 dbSNP gnomAD v2 gnomAD v4
4g.99600764C=CA1480079218MTTPc.1236+31C= (n.1236+31C=)
c.987+31C= (n.987+31C=)
c.1317+31C= (n.1317+31C=)
4g.99600764C>TCA2671534172MTTPc.1236+31C>T (n.1236+31C>T)
c.987+31C>T (n.987+31C>T)
c.1317+31C>T (n.1317+31C>T)
 gnomAD v4
4g.99600765T>ACA2762812141MTTPc.1236+32T>A (n.1236+32T>A)
c.987+32T>A (n.987+32T>A)
c.1317+32T>A (n.1317+32T>A)
4g.99600765_99600766insACACA2762812142MTTPc.1236+32_1236+33insACA (n.1236+32_1236+33insACA)
c.987+32_987+33insACA (n.987+32_987+33insACA)
c.1317+32_1317+33insACA (n.1317+32_1317+33insACA)
4g.99600766C>ACA2762812144MTTPc.1236+33C>A (n.1236+33C>A)
c.987+33C>A (n.987+33C>A)
c.1317+33C>A (n.1317+33C>A)
4g.99600766C=CA1480079219MTTPc.1236+33C= (n.1236+33C=)
c.987+33C= (n.987+33C=)
c.1317+33C= (n.1317+33C=)
4g.99600766C>TCA1065946483MTTPc.1236+33C>T (n.1236+33C>T)
c.987+33C>T (n.987+33C>T)
c.1317+33C>T (n.1317+33C>T)
 dbSNP gnomAD v3 gnomAD v4
4g.99600766_99600767insACA2762812147MTTPc.1236+33_1236+34insA (n.1236+33_1236+34insA)
c.987+33_987+34insA (n.987+33_987+34insA)
c.1317+33_1317+34insA (n.1317+33_1317+34insA)
4g.99600767C=CA1480079220MTTPc.1236+34C= (n.1236+34C=)
c.987+34C= (n.987+34C=)
c.1317+34C= (n.1317+34C=)
4g.99600767C>GCA2671534173MTTPc.1236+34C>G (n.1236+34C>G)
c.987+34C>G (n.987+34C>G)
c.1317+34C>G (n.1317+34C>G)
 gnomAD v4
4g.99600767C>TCA3022060MTTPc.1236+34C>T (n.1236+34C>T)
c.987+34C>T (n.987+34C>T)
c.1317+34C>T (n.1317+34C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99600768delCA2762812150MTTPc.1236+35del (n.1236+35del)
c.987+35del (n.987+35del)
c.1317+35del (n.1317+35del)
4g.99600768T>ACA3022061MTTPc.1236+35T>A (n.1236+35T>A)
c.987+35T>A (n.987+35T>A)
c.1317+35T>A (n.1317+35T>A)
 dbSNP ExAC gnomAD v2
4g.99600768T>CCA553568424MTTPc.1236+35T>C (n.1236+35T>C)
c.987+35T>C (n.987+35T>C)
c.1317+35T>C (n.1317+35T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.99600768T=CA1480079221MTTPc.1236+35T= (n.1236+35T=)
c.987+35T= (n.987+35T=)
c.1317+35T= (n.1317+35T=)
4g.99600769A=CA1480079222MTTPc.1236+36A= (n.1236+36A=)
c.987+36A= (n.987+36A=)
c.1317+36A= (n.1317+36A=)
4g.99600769A>GCA553568425MTTPc.1236+36A>G (n.1236+36A>G)
c.987+36A>G (n.987+36A>G)
c.1317+36A>G (n.1317+36A>G)
 dbSNP gnomAD v2 gnomAD v4
4g.99600769_99600770insACTCA2762812153MTTPc.1236+36_1236+37insACT (n.1236+36_1236+37insACT)
c.987+36_987+37insACT (n.987+36_987+37insACT)
c.1317+36_1317+37insACT (n.1317+36_1317+37insACT)
4g.99600770T>ACA2671534174MTTPc.1236+37T>A (n.1236+37T>A)
c.987+37T>A (n.987+37T>A)
c.1317+37T>A (n.1317+37T>A)
 gnomAD v4
4g.99600770T>CCA553568426MTTPc.1236+37T>C (n.1236+37T>C)
c.987+37T>C (n.987+37T>C)
c.1317+37T>C (n.1317+37T>C)
 dbSNP gnomAD v2 gnomAD v4
4g.99600770T=CA1480079223MTTPc.1236+37T= (n.1236+37T=)
c.987+37T= (n.987+37T=)
c.1317+37T= (n.1317+37T=)
4g.99600771A=CA1480079224MTTPc.1236+38A= (n.1236+38A=)
c.987+38A= (n.987+38A=)
c.1317+38A= (n.1317+38A=)
4g.99600771A>GCA3022062MTTPc.1236+38A>G (n.1236+38A>G)
c.987+38A>G (n.987+38A>G)
c.1317+38A>G (n.1317+38A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99600772A>GCA2671534175MTTPc.1236+39A>G (n.1236+39A>G)
c.987+39A>G (n.987+39A>G)
c.1317+39A>G (n.1317+39A>G)
 gnomAD v4
4g.99600773A>CCA2578152338MTTPc.1236+40A>C (n.1236+40A>C)
c.987+40A>C (n.987+40A>C)
c.1317+40A>C (n.1317+40A>C)
4g.99600774A=CA1480079226MTTPc.1236+41A= (n.1236+41A=)
c.987+41A= (n.987+41A=)
c.1317+41A= (n.1317+41A=)
4g.99600774A>GCA3022063MTTPc.1236+41A>G (n.1236+41A>G)
c.987+41A>G (n.987+41A>G)
c.1317+41A>G (n.1317+41A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.99600774_99600775delCA2762812156MTTPc.1236+41_1236+42del (n.1236+41_1236+42del)
c.987+41_987+42del (n.987+41_987+42del)
c.1317+41_1317+42del (n.1317+41_1317+42del)
4g.99600774_99600777delinsACTTCA1480079225MTTPc.1236+41_1236+44delinsACTT (n.1236+41_1236+44delinsACTT)
c.987+41_987+44delinsACTT (n.987+41_987+44delinsACTT)
c.1317+41_1317+44delinsACTT (n.1317+41_1317+44delinsACTT)
4g.99600775C>ACA2671534176MTTPc.1236+42C>A (n.1236+42C>A)
c.987+42C>A (n.987+42C>A)
c.1317+42C>A (n.1317+42C>A)
 gnomAD v4
4g.99600778_99600780delCA3022064MTTPc.1236+45_1236+47del (n.1236+45_1236+47del)
c.987+45_987+47del (n.987+45_987+47del)
c.1317+45_1317+47del (n.1317+45_1317+47del)
 dbSNP ExAC gnomAD v2
4g.99600776T>GCA2762812158MTTPc.1236+43T>G (n.1236+43T>G)
c.987+43T>G (n.987+43T>G)
c.1317+43T>G (n.1317+43T>G)
4g.99600777_99600790delCA2762812159MTTPc.1236+44_1236+57del (n.1236+44_1236+57del)
c.987+44_987+57del (n.987+44_987+57del)
c.1317+44_1317+57del (n.1317+44_1317+57del)
4g.99600778_99600781delCA2762812160MTTPc.1236+45_1236+48del (n.1236+45_1236+48del)
c.987+45_987+48del (n.987+45_987+48del)
c.1317+45_1317+48del (n.1317+45_1317+48del)
4g.99600779T>ACA2578152339MTTPc.1236+46T>A (n.1236+46T>A)
c.987+46T>A (n.987+46T>A)
c.1317+46T>A (n.1317+46T>A)
4g.99600779T>GCA2671534177MTTPc.1236+46T>G (n.1236+46T>G)
c.987+46T>G (n.987+46T>G)
c.1317+46T>G (n.1317+46T>G)
 gnomAD v4
4g.99600779_99600780insACCA2762812162MTTPc.1236+46_1236+47insAC (n.1236+46_1236+47insAC)
c.987+46_987+47insAC (n.987+46_987+47insAC)
c.1317+46_1317+47insAC (n.1317+46_1317+47insAC)
4g.99600781_99600782insCTTCA2762812164MTTPc.1236+48_1236+49insCTT (n.1236+48_1236+49insCTT)
c.987+48_987+49insCTT (n.987+48_987+49insCTT)
c.1317+48_1317+49insCTT (n.1317+48_1317+49insCTT)
4g.99600782_99600783insAGGCA2762812166MTTPc.1236+49_1236+50insAGG (n.1236+49_1236+50insAGG)
c.987+49_987+50insAGG (n.987+49_987+50insAGG)
c.1317+49_1317+50insAGG (n.1317+49_1317+50insAGG)
4g.99600783G>ACA553568427MTTPc.1236+50G>A (n.1236+50G>A)
c.987+50G>A (n.987+50G>A)
c.1317+50G>A (n.1317+50G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.99600783G>CCA2762812168MTTPc.1236+50G>C (n.1236+50G>C)
c.987+50G>C (n.987+50G>C)
c.1317+50G>C (n.1317+50G>C)
4g.99600783G=CA1480079227MTTPc.1236+50G= (n.1236+50G=)
c.987+50G= (n.987+50G=)
c.1317+50G= (n.1317+50G=)
4g.99600783_99600789delCA2762812167MTTPc.1236+50_1236+56del (n.1236+50_1236+56del)
c.987+50_987+56del (n.987+50_987+56del)
c.1317+50_1317+56del (n.1317+50_1317+56del)
4g.99600784A=CA1480079228MTTPc.1236+51A= (n.1236+51A=)
c.987+51A= (n.987+51A=)
c.1317+51A= (n.1317+51A=)
4g.99600784A>GCA3022065MTTPc.1236+51A>G (n.1236+51A>G)
c.987+51A>G (n.987+51A>G)
c.1317+51A>G (n.1317+51A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.99600785A>CCA2671534178MTTPc.1236+52A>C (n.1236+52A>C)
c.987+52A>C (n.987+52A>C)
c.1317+52A>C (n.1317+52A>C)
 gnomAD v4
4g.99600786_99600790delCA2762812169MTTPc.1236+53_1236+57del (n.1236+53_1236+57del)
c.987+53_987+57del (n.987+53_987+57del)
c.1317+53_1317+57del (n.1317+53_1317+57del)

Number of alleles fetched