Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.99600694del | CA553568413 | MTTP | c.1197del (p.Phe399LeufsTer10) c.948del (p.Phe316LeufsTer10) c.1278del (p.Phe426LeufsTer10) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.99600694T>A | CA357508545 | MTTP | c.1197T>A (p.Phe399Leu) c.948T>A (p.Phe316Leu) c.1278T>A (p.Phe426Leu) | |
4 | g.99600694T>C | CA440330042 | MTTP | c.1197T>C (p.Phe399=) c.948T>C (p.Phe316=) c.1278T>C (p.Phe426=) | |
4 | g.99600694T>G | CA357508547 | MTTP | c.1197T>G (p.Phe399Leu) c.948T>G (p.Phe316Leu) c.1278T>G (p.Phe426Leu) | |
4 | g.99600695G>A | CA357508549 | MTTP | c.1198G>A (p.Ala400Thr) c.949G>A (p.Ala317Thr) c.1279G>A (p.Ala427Thr) | |
4 | g.99600695G>C | CA357508551 | MTTP | c.1198G>C (p.Ala400Pro) c.949G>C (p.Ala317Pro) c.1279G>C (p.Ala427Pro) | |
4 | g.99600695G>T | CA357508552 | MTTP | c.1198G>T (p.Ala400Ser) c.949G>T (p.Ala317Ser) c.1279G>T (p.Ala427Ser) | |
4 | g.99600696C>A | CA357508554 | MTTP | c.1199C>A (p.Ala400Asp) c.950C>A (p.Ala317Asp) c.1280C>A (p.Ala427Asp) | COSMIC |
4 | g.99600696C= | CA1480079189 | MTTP | c.1199C= (p.Ala400=) c.950C= (p.Ala317=) c.1280C= (p.Ala427=) | |
4 | g.99600696C>G | CA357508556 | MTTP | c.1199C>G (p.Ala400Gly) c.950C>G (p.Ala317Gly) c.1280C>G (p.Ala427Gly) | |
4 | g.99600696C>T | CA357508558 | MTTP | c.1199C>T (p.Ala400Val) c.950C>T (p.Ala317Val) c.1280C>T (p.Ala427Val) | dbSNP gnomAD v4 |
4 | g.99600697T>A | CA440330044 | MTTP | c.1200T>A (p.Ala400=) c.951T>A (p.Ala317=) c.1281T>A (p.Ala427=) | |
4 | g.99600697T>C | CA440330045 | MTTP | c.1200T>C (p.Ala400=) c.951T>C (p.Ala317=) c.1281T>C (p.Ala427=) | |
4 | g.99600697T>G | CA440330046 | MTTP | c.1200T>G (p.Ala400=) c.951T>G (p.Ala317=) c.1281T>G (p.Ala427=) | |
4 | g.99600698T>A | CA357508560 | MTTP | c.1201T>A (p.Ser401Thr) c.952T>A (p.Ser318Thr) c.1282T>A (p.Ser428Thr) | |
4 | g.99600698T>C | CA357508562 | MTTP | c.1201T>C (p.Ser401Pro) c.952T>C (p.Ser318Pro) c.1282T>C (p.Ser428Pro) | |
4 | g.99600698T>G | CA357508563 | MTTP | c.1201T>G (p.Ser401Ala) c.952T>G (p.Ser318Ala) c.1282T>G (p.Ser428Ala) | |
4 | g.99600699C>A | CA357508570 | MTTP | c.1202C>A (p.Ser401Tyr) c.953C>A (p.Ser318Tyr) c.1283C>A (p.Ser428Tyr) | COSMIC |
4 | g.99600699C>G | CA357508566 | MTTP | c.1202C>G (p.Ser401Cys) c.953C>G (p.Ser318Cys) c.1283C>G (p.Ser428Cys) | |
4 | g.99600699C>T | CA357508568 | MTTP | c.1202C>T (p.Ser401Phe) c.953C>T (p.Ser318Phe) c.1283C>T (p.Ser428Phe) | |
4 | g.99600700T>A | CA440330049 | MTTP | c.1203T>A (p.Ser401=) c.954T>A (p.Ser318=) c.1284T>A (p.Ser428=) | |
4 | g.99600700T>C | CA440330050 | MTTP | c.1203T>C (p.Ser401=) c.954T>C (p.Ser318=) c.1284T>C (p.Ser428=) | |
4 | g.99600700T>G | CA440330051 | MTTP | c.1203T>G (p.Ser401=) c.954T>G (p.Ser318=) c.1284T>G (p.Ser428=) | |
4 | g.99600701C>A | CA357508571 | MTTP | c.1204C>A (p.His402Asn) c.955C>A (p.His319Asn) c.1285C>A (p.His429Asn) | |
4 | g.99600701C= | CA1480079190 | MTTP | c.1204C= (p.His402=) c.955C= (p.His319=) c.1285C= (p.His429=) | |
4 | g.99600701C>G | CA357508574 | MTTP | c.1204C>G (p.His402Asp) c.955C>G (p.His319Asp) c.1285C>G (p.His429Asp) | |
4 | g.99600701C>T | CA357508577 | MTTP | c.1204C>T (p.His402Tyr) c.955C>T (p.His319Tyr) c.1285C>T (p.His429Tyr) | ClinVar dbSNP gnomAD v4 |
4 | g.99600702A>C | CA357508578 | MTTP | c.1205A>C (p.His402Pro) c.956A>C (p.His319Pro) c.1286A>C (p.His429Pro) | |
4 | g.99600702A>G | CA357508580 | MTTP | c.1205A>G (p.His402Arg) c.956A>G (p.His319Arg) c.1286A>G (p.His429Arg) | |
4 | g.99600702A>T | CA357508582 | MTTP | c.1205A>T (p.His402Leu) c.956A>T (p.His319Leu) c.1286A>T (p.His429Leu) | |
4 | g.99600703T>A | CA357508586 | MTTP | c.1206T>A (p.His402Gln) c.957T>A (p.His319Gln) c.1287T>A (p.His429Gln) | |
4 | g.99600703T>C | CA440330055 | MTTP | c.1206T>C (p.His402=) c.957T>C (p.His319=) c.1287T>C (p.His429=) | |
4 | g.99600703T>G | CA357508584 | MTTP | c.1206T>G (p.His402Gln) c.957T>G (p.His319Gln) c.1287T>G (p.His429Gln) | |
4 | g.99600704C>A | CA357508589 | MTTP | c.1207C>A (p.Pro403Thr) c.958C>A (p.Pro320Thr) c.1288C>A (p.Pro430Thr) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99600704C= | CA1480079191 | MTTP | c.1207C= (p.Pro403=) c.958C= (p.Pro320=) c.1288C= (p.Pro430=) | |
4 | g.99600704C>G | CA357508591 | MTTP | c.1207C>G (p.Pro403Ala) c.958C>G (p.Pro320Ala) c.1288C>G (p.Pro430Ala) | |
4 | g.99600704C>T | CA357508592 | MTTP | c.1207C>T (p.Pro403Ser) c.958C>T (p.Pro320Ser) c.1288C>T (p.Pro430Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99600705C>A | CA357508594 | MTTP | c.1208C>A (p.Pro403His) c.959C>A (p.Pro320His) c.1289C>A (p.Pro430His) | |
4 | g.99600705C>G | CA357508596 | MTTP | c.1208C>G (p.Pro403Arg) c.959C>G (p.Pro320Arg) c.1289C>G (p.Pro430Arg) | |
4 | g.99600705C>T | CA357508598 | MTTP | c.1208C>T (p.Pro403Leu) c.959C>T (p.Pro320Leu) c.1289C>T (p.Pro430Leu) | |
4 | g.99600706C>A | CA440330060 | MTTP | c.1209C>A (p.Pro403=) c.960C>A (p.Pro320=) c.1290C>A (p.Pro430=) | |
4 | g.99600706C>G | CA440330058 | MTTP | c.1209C>G (p.Pro403=) c.960C>G (p.Pro320=) c.1290C>G (p.Pro430=) | COSMIC |
4 | g.99600706C>T | CA440330059 | MTTP | c.1209C>T (p.Pro403=) c.960C>T (p.Pro320=) c.1290C>T (p.Pro430=) | ClinVar gnomAD v4 |
4 | g.99600707A= | CA1480079192 | MTTP | c.1210A= (p.Asn404=) c.961A= (p.Asn321=) c.1291A= (p.Asn431=) | |
4 | g.99600707A>C | CA357508603 | MTTP | c.1210A>C (p.Asn404His) c.961A>C (p.Asn321His) c.1291A>C (p.Asn431His) | |
4 | g.99600707A>G | CA3022046 | MTTP | c.1210A>G (p.Asn404Asp) c.961A>G (p.Asn321Asp) c.1291A>G (p.Asn431Asp) | dbSNP ExAC gnomAD v2 |
4 | g.99600707A>T | CA357508601 | MTTP | c.1210A>T (p.Asn404Tyr) c.961A>T (p.Asn321Tyr) c.1291A>T (p.Asn431Tyr) | |
4 | g.99600708A= | CA1480079193 | MTTP | c.1211A= (p.Asn404=) c.962A= (p.Asn321=) c.1292A= (p.Asn431=) | |
4 | g.99600708A>C | CA357508605 | MTTP | c.1211A>C (p.Asn404Thr) c.962A>C (p.Asn321Thr) c.1292A>C (p.Asn431Thr) | |
4 | g.99600708A>G | CA3022047 | MTTP | c.1211A>G (p.Asn404Ser) c.962A>G (p.Asn321Ser) c.1292A>G (p.Asn431Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99600708A>T | CA357508606 | MTTP | c.1211A>T (p.Asn404Ile) c.962A>T (p.Asn321Ile) c.1292A>T (p.Asn431Ile) | |
4 | g.99600709T>A | CA357508608 | MTTP | c.1212T>A (p.Asn404Lys) c.963T>A (p.Asn321Lys) c.1293T>A (p.Asn431Lys) | |
4 | g.99600709T>C | CA440330062 | MTTP | c.1212T>C (p.Asn404=) c.963T>C (p.Asn321=) c.1293T>C (p.Asn431=) | |
4 | g.99600709T>G | CA357508609 | MTTP | c.1212T>G (p.Asn404Lys) c.963T>G (p.Asn321Lys) c.1293T>G (p.Asn431Lys) | |
4 | g.99600710G>A | CA357508612 | MTTP | c.1213G>A (p.Glu405Lys) c.964G>A (p.Glu322Lys) c.1294G>A (p.Glu432Lys) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99600710G>C | CA357508614 | MTTP | c.1213G>C (p.Glu405Gln) c.964G>C (p.Glu322Gln) c.1294G>C (p.Glu432Gln) | |
4 | g.99600710G= | CA1480079194 | MTTP | c.1213G= (p.Glu405=) c.964G= (p.Glu322=) c.1294G= (p.Glu432=) | |
4 | g.99600710G>T | CA357508615 | MTTP | c.1213G>T (p.Glu405Ter) c.964G>T (p.Glu322Ter) c.1294G>T (p.Glu432Ter) | |
4 | g.99600711A>C | CA357508618 | MTTP | c.1214A>C (p.Glu405Ala) c.965A>C (p.Glu322Ala) c.1295A>C (p.Glu432Ala) | |
4 | g.99600711A>G | CA357508621 | MTTP | c.1214A>G (p.Glu405Gly) c.965A>G (p.Glu322Gly) c.1295A>G (p.Glu432Gly) | |
4 | g.99600711A>T | CA357508623 | MTTP | c.1214A>T (p.Glu405Val) c.965A>T (p.Glu322Val) c.1295A>T (p.Glu432Val) | |
4 | g.99600712A>C | CA357508625 | MTTP | c.1215A>C (p.Glu405Asp) c.966A>C (p.Glu322Asp) c.1296A>C (p.Glu432Asp) | |
4 | g.99600712A>G | CA440330066 | MTTP | c.1215A>G (p.Glu405=) c.966A>G (p.Glu322=) c.1296A>G (p.Glu432=) | |
4 | g.99600712A>T | CA357508627 | MTTP | c.1215A>T (p.Glu405Asp) c.966A>T (p.Glu322Asp) c.1296A>T (p.Glu432Asp) | |
4 | g.99600713G>A | CA357508629 | MTTP | c.1216G>A (p.Glu406Lys) c.967G>A (p.Glu323Lys) c.1297G>A (p.Glu433Lys) | |
4 | g.99600713G>C | CA357508633 | MTTP | c.1216G>C (p.Glu406Gln) c.967G>C (p.Glu323Gln) c.1297G>C (p.Glu433Gln) | |
4 | g.99600713G>T | CA357508631 | MTTP | c.1216G>T (p.Glu406Ter) c.967G>T (p.Glu323Ter) c.1297G>T (p.Glu433Ter) | |
4 | g.99600714A>C | CA357508635 | MTTP | c.1217A>C (p.Glu406Ala) c.968A>C (p.Glu323Ala) c.1298A>C (p.Glu433Ala) | |
4 | g.99600714A>G | CA357508637 | MTTP | c.1217A>G (p.Glu406Gly) c.968A>G (p.Glu323Gly) c.1298A>G (p.Glu433Gly) | |
4 | g.99600714A>T | CA357508639 | MTTP | c.1217A>T (p.Glu406Val) c.968A>T (p.Glu323Val) c.1298A>T (p.Glu433Val) | gnomAD v4 |
4 | g.99600715A= | CA1480079195 | MTTP | c.1218A= (p.Glu406=) c.969A= (p.Glu323=) c.1299A= (p.Glu433=) | |
4 | g.99600715A>C | CA357508641 | MTTP | c.1218A>C (p.Glu406Asp) c.969A>C (p.Glu323Asp) c.1299A>C (p.Glu433Asp) | |
4 | g.99600715A>G | CA440330070 | MTTP | c.1218A>G (p.Glu406=) c.969A>G (p.Glu323=) c.1299A>G (p.Glu433=) | |
4 | g.99600715A>T | CA3022048 | MTTP | c.1218A>T (p.Glu406Asp) c.969A>T (p.Glu323Asp) c.1299A>T (p.Glu433Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99600715_99600718delinsACTC | CA1480079196 | MTTP | c.1218_1221delinsACTC (p.Glu406=) c.969_972delinsACTC (p.Glu323=) c.1299_1302delinsACTC (p.Glu433=) | |
4 | g.99600716C>A | CA3022050 | MTTP | c.1219C>A (p.Leu407Ile) c.970C>A (p.Leu324Ile) c.1300C>A (p.Leu434Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.99600716C= | CA1480079197 | MTTP | c.1219C= (p.Leu407=) c.970C= (p.Leu324=) c.1300C= (p.Leu434=) | |
4 | g.99600716C>G | CA357508645 | MTTP | c.1219C>G (p.Leu407Val) c.970C>G (p.Leu324Val) c.1300C>G (p.Leu434Val) | |
4 | g.99600716C>T | CA3022049 | MTTP | c.1219C>T (p.Leu407Phe) c.970C>T (p.Leu324Phe) c.1300C>T (p.Leu434Phe) | dbSNP ExAC |
4 | g.99600718_99600720del | CA553568414 | MTTP | c.1221_1223del (p.Leu408del) c.972_974del (p.Leu325del) c.1302_1304del (p.Leu435del) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99600717T>A | CA357508648 | MTTP | c.1220T>A (p.Leu407His) c.971T>A (p.Leu324His) c.1301T>A (p.Leu434His) | |
4 | g.99600717T>C | CA357508649 | MTTP | c.1220T>C (p.Leu407Pro) c.971T>C (p.Leu324Pro) c.1301T>C (p.Leu434Pro) | ClinVar |
4 | g.99600717T>G | CA357508651 | MTTP | c.1220T>G (p.Leu407Arg) c.971T>G (p.Leu324Arg) c.1301T>G (p.Leu434Arg) | |
4 | g.99600718C>A | CA440330072 | MTTP | c.1221C>A (p.Leu407=) c.972C>A (p.Leu324=) c.1302C>A (p.Leu434=) | |
4 | g.99600718C= | CA1480079198 | MTTP | c.1221C= (p.Leu407=) c.972C= (p.Leu324=) c.1302C= (p.Leu434=) | |
4 | g.99600718C>G | CA440330073 | MTTP | c.1221C>G (p.Leu407=) c.972C>G (p.Leu324=) c.1302C>G (p.Leu434=) | |
4 | g.99600718C>T | CA3022051 | MTTP | c.1221C>T (p.Leu407=) c.972C>T (p.Leu324=) c.1302C>T (p.Leu434=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99600719C>A | CA357508654 | MTTP | c.1222C>A (p.Leu408Met) c.973C>A (p.Leu325Met) c.1303C>A (p.Leu435Met) | |
4 | g.99600719C>G | CA357508655 | MTTP | c.1222C>G (p.Leu408Val) c.973C>G (p.Leu325Val) c.1303C>G (p.Leu435Val) | |
4 | g.99600719C>T | CA440330074 | MTTP | c.1222C>T (p.Leu408=) c.973C>T (p.Leu325=) c.1303C>T (p.Leu435=) | ClinVar dbSNP COSMIC |
4 | g.99600720T>A | CA357508658 | MTTP | c.1223T>A (p.Leu408Gln) c.974T>A (p.Leu325Gln) c.1304T>A (p.Leu435Gln) | |
4 | g.99600720T>C | CA357508662 | MTTP | c.1223T>C (p.Leu408Pro) c.974T>C (p.Leu325Pro) c.1304T>C (p.Leu435Pro) | |
4 | g.99600720T>G | CA357508660 | MTTP | c.1223T>G (p.Leu408Arg) c.974T>G (p.Leu325Arg) c.1304T>G (p.Leu435Arg) | COSMIC |
4 | g.99600721G>A | CA440330076 | MTTP | c.1224G>A (p.Leu408=) c.975G>A (p.Leu325=) c.1305G>A (p.Leu435=) | |
4 | g.99600721G>C | CA440330077 | MTTP | c.1224G>C (p.Leu408=) c.975G>C (p.Leu325=) c.1305G>C (p.Leu435=) | |
4 | g.99600721G>T | CA440330078 | MTTP | c.1224G>T (p.Leu408=) c.975G>T (p.Leu325=) c.1305G>T (p.Leu435=) | |
4 | g.99600724_99600725del | CA2578152334 | MTTP | c.1227_1228del (p.Arg409SerfsTer4) c.978_979del (p.Arg326SerfsTer4) c.1308_1309del (p.Arg436SerfsTer4) | |
4 | g.99600722A>C | CA440330079 | MTTP | c.1225A>C (p.Arg409=) c.976A>C (p.Arg326=) c.1306A>C (p.Arg436=) | |
4 | g.99600722A>G | CA357508663 | MTTP | c.1225A>G (p.Arg409Gly) c.976A>G (p.Arg326Gly) c.1306A>G (p.Arg436Gly) | |
4 | g.99600722A>T | CA357508665 | MTTP | c.1225A>T (p.Arg409Ter) c.976A>T (p.Arg326Ter) c.1306A>T (p.Arg436Ter) | |
4 | g.99600723G>A | CA357508668 | MTTP | c.1226G>A (p.Arg409Lys) c.977G>A (p.Arg326Lys) c.1307G>A (p.Arg436Lys) | gnomAD v4 |
4 | g.99600723G>C | CA357508670 | MTTP | c.1226G>C (p.Arg409Thr) c.977G>C (p.Arg326Thr) c.1307G>C (p.Arg436Thr) | |
4 | g.99600723G>T | CA357508672 | MTTP | c.1226G>T (p.Arg409Ile) c.977G>T (p.Arg326Ile) c.1307G>T (p.Arg436Ile) | |
4 | g.99600723_99600724delinsTT | CA2573138379 | MTTP | c.1226_1227delinsTT (p.Arg409Ile) c.977_978delinsTT (p.Arg326Ile) c.1307_1308delinsTT (p.Arg436Ile) | ClinVar dbSNP |
4 | g.99600724A>C | CA357508674 | MTTP | c.1227A>C (p.Arg409Ser) c.978A>C (p.Arg326Ser) c.1308A>C (p.Arg436Ser) | |
4 | g.99600724A>G | CA440330080 | MTTP | c.1227A>G (p.Arg409=) c.978A>G (p.Arg326=) c.1308A>G (p.Arg436=) | |
4 | g.99600724A>T | CA357508676 | MTTP | c.1227A>T (p.Arg409Ser) c.978A>T (p.Arg326Ser) c.1308A>T (p.Arg436Ser) | |
4 | g.99600725G>A | CA102631571 | MTTP | c.1228G>A (p.Ala410Thr) c.979G>A (p.Ala327Thr) c.1309G>A (p.Ala437Thr) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99600725G>C | CA357508679 | MTTP | c.1228G>C (p.Ala410Pro) c.979G>C (p.Ala327Pro) c.1309G>C (p.Ala437Pro) | |
4 | g.99600725G= | CA1480079199 | MTTP | c.1228G= (p.Ala410=) c.979G= (p.Ala327=) c.1309G= (p.Ala437=) | |
4 | g.99600725G>T | CA357508682 | MTTP | c.1228G>T (p.Ala410Ser) c.979G>T (p.Ala327Ser) c.1309G>T (p.Ala437Ser) | |
4 | g.99600725_99600727delinsGCC | CA1480079200 | MTTP | c.1228_1230delinsGCC (p.Ala410=) c.979_981delinsGCC (p.Ala327=) c.1309_1311delinsGCC (p.Ala437=) | |
4 | g.99600726C>A | CA357508684 | MTTP | c.1229C>A (p.Ala410Asp) c.980C>A (p.Ala327Asp) c.1310C>A (p.Ala437Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
4 | g.99600726C= | CA1480079202 | MTTP | c.1229C= (p.Ala410=) c.980C= (p.Ala327=) c.1310C= (p.Ala437=) | |
4 | g.99600726C>G | CA357508686 | MTTP | c.1229C>G (p.Ala410Gly) c.980C>G (p.Ala327Gly) c.1310C>G (p.Ala437Gly) | |
4 | g.99600726C>T | CA357508685 | MTTP | c.1229C>T (p.Ala410Val) c.980C>T (p.Ala327Val) c.1310C>T (p.Ala437Val) | |
4 | g.99600726_99600728delinsT | CA2695203659 | MTTP | c.1229_1231delinsT (p.Ala410ValfsTer3) c.980_982delinsT (p.Ala327ValfsTer3) c.1310_1312delinsT (p.Ala437ValfsTer3) | |
4 | g.99600727_99600728del | CA1480079201 | MTTP | c.1230_1231del (p.Leu411HisfsTer2) c.981_982del (p.Leu328HisfsTer2) c.1311_1312del (p.Leu438HisfsTer2) | ClinVar dbSNP gnomAD v4 |
4 | g.99600727C>A | CA440330082 | MTTP | c.1230C>A (p.Ala410=) c.981C>A (p.Ala327=) c.1311C>A (p.Ala437=) | |
4 | g.99600727C>G | CA440330084 | MTTP | c.1230C>G (p.Ala410=) c.981C>G (p.Ala327=) c.1311C>G (p.Ala437=) | gnomAD v4 |
4 | g.99600727C>T | CA440330083 | MTTP | c.1230C>T (p.Ala410=) c.981C>T (p.Ala327=) c.1311C>T (p.Ala437=) | ClinVar |
4 | g.99600728C>A | CA357508687 | MTTP | c.1231C>A (p.Leu411Ile) c.982C>A (p.Leu328Ile) c.1312C>A (p.Leu438Ile) | |
4 | g.99600728C= | CA1480079203 | MTTP | c.1231C= (p.Leu411=) c.982C= (p.Leu328=) c.1312C= (p.Leu438=) | |
4 | g.99600728C>G | CA357508691 | MTTP | c.1231C>G (p.Leu411Val) c.982C>G (p.Leu328Val) c.1312C>G (p.Leu438Val) | gnomAD v4 |
4 | g.99600728C>T | CA357508689 | MTTP | c.1231C>T (p.Leu411Phe) c.982C>T (p.Leu328Phe) c.1312C>T (p.Leu438Phe) | dbSNP gnomAD v4 |
4 | g.99600729T>A | CA357508693 | MTTP | c.1232T>A (p.Leu411His) c.983T>A (p.Leu328His) c.1313T>A (p.Leu438His) | |
4 | g.99600729T>C | CA357508697 | MTTP | c.1232T>C (p.Leu411Pro) c.983T>C (p.Leu328Pro) c.1313T>C (p.Leu438Pro) | |
4 | g.99600729T>G | CA357508695 | MTTP | c.1232T>G (p.Leu411Arg) c.983T>G (p.Leu328Arg) c.1313T>G (p.Leu438Arg) | |
4 | g.99600730C>A | CA440330086 | MTTP | c.1233C>A (p.Leu411=) c.984C>A (p.Leu328=) c.1314C>A (p.Leu438=) | |
4 | g.99600730C= | CA1480079204 | MTTP | c.1233C= (p.Leu411=) c.984C= (p.Leu328=) c.1314C= (p.Leu438=) | |
4 | g.99600730C>G | CA440330087 | MTTP | c.1233C>G (p.Leu411=) c.984C>G (p.Leu328=) c.1314C>G (p.Leu438=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99600730C>T | CA440330088 | MTTP | c.1233C>T (p.Leu411=) c.984C>T (p.Leu328=) c.1314C>T (p.Leu438=) | ClinVar dbSNP gnomAD v4 |
4 | g.99600731A= | CA1480079205 | MTTP | c.1234A= (p.Ile412=) c.985A= (p.Ile329=) c.1315A= (p.Ile439=) | |
4 | g.99600731A>C | CA357508699 | MTTP | c.1234A>C (p.Ile412Leu) c.985A>C (p.Ile329Leu) c.1315A>C (p.Ile439Leu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.99600731A>G | CA357508701 | MTTP | c.1234A>G (p.Ile412Val) c.985A>G (p.Ile329Val) c.1315A>G (p.Ile439Val) | |
4 | g.99600731A>T | CA357508703 | MTTP | c.1234A>T (p.Ile412Phe) c.985A>T (p.Ile329Phe) c.1315A>T (p.Ile439Phe) | |
4 | g.99600732T>A | CA3022052 | MTTP | c.1235T>A (p.Ile412Asn) c.986T>A (p.Ile329Asn) c.1316T>A (p.Ile439Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.99600732T>C | CA357508706 | MTTP | c.1235T>C (p.Ile412Thr) c.986T>C (p.Ile329Thr) c.1316T>C (p.Ile439Thr) | dbSNP gnomAD v4 |
4 | g.99600732T>G | CA357508709 | MTTP | c.1235T>G (p.Ile412Ser) c.986T>G (p.Ile329Ser) c.1316T>G (p.Ile439Ser) | |
4 | g.99600732T= | CA1480079206 | MTTP | c.1235T= (p.Ile412=) c.986T= (p.Ile329=) c.1316T= (p.Ile439=) | |
4 | g.99600733T>A | CA440330091 | MTTP | c.1236T>A (p.Ile412=) c.987T>A (p.Ile329=) c.1317T>A (p.Ile439=) | |
4 | g.99600733T>C | CA440330093 | MTTP | c.1236T>C (p.Ile412=) c.987T>C (p.Ile329=) c.1317T>C (p.Ile439=) | |
4 | g.99600733T>G | CA357508711 | MTTP | c.1236T>G (p.Ile412Met) c.987T>G (p.Ile329Met) c.1317T>G (p.Ile439Met) | gnomAD v4 |
4 | g.99600733_99600734insA | CA2762812119 | MTTP | c.1236_1236+1insA (n.1236_1236+1insA) c.987_987+1insA (n.987_987+1insA) c.1317_1317+1insA (n.1317_1317+1insA) | |
4 | g.99600734G>A | CA3022053 | MTTP | c.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 |
4 | g.99600734G>C | CA357508714 | MTTP | c.1236+1G>C (n.1236+1G>C) c.987+1G>C (n.987+1G>C) c.1317+1G>C (n.1317+1G>C) | |
4 | g.99600734G= | CA1480079207 | MTTP | c.1236+1G= (n.1236+1G=) c.987+1G= (n.987+1G=) c.1317+1G= (n.1317+1G=) | |
4 | g.99600734G>T | CA16020710 | MTTP | c.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 |
4 | g.99600735T>A | CA357508715 | MTTP | c.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 |
4 | g.99600735T>C | CA357508716 | MTTP | c.1236+2T>C (n.1236+2T>C) c.987+2T>C (n.987+2T>C) c.1317+2T>C (n.1317+2T>C) | |
4 | g.99600735T>G | CA357508718 | MTTP | c.1236+2T>G (n.1236+2T>G) c.987+2T>G (n.987+2T>G) c.1317+2T>G (n.1317+2T>G) | |
4 | g.99600735dup | CA2740557550 | MTTP | c.1236+2dup (n.1236+2dup) c.987+2dup (n.987+2dup) c.1317+2dup (n.1317+2dup) | |
4 | g.99600740C>A | CA2671534168 | MTTP | c.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 |
4 | g.99600740C>G | CA2499217359 | MTTP | c.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 |
4 | g.99600742A= | CA1480079208 | MTTP | c.1236+9A= (n.1236+9A=) c.987+9A= (n.987+9A=) c.1317+9A= (n.1317+9A=) | |
4 | g.99600742A>G | CA1480079209 | MTTP | c.1236+9A>G (n.1236+9A>G) c.987+9A>G (n.987+9A>G) c.1317+9A>G (n.1317+9A>G) | dbSNP |
4 | g.99600744T>C | CA3022054 | MTTP | c.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 |
4 | g.99600744T= | CA1480079210 | MTTP | c.1236+11T= (n.1236+11T=) c.987+11T= (n.987+11T=) c.1317+11T= (n.1317+11T=) | |
4 | g.99600745A= | CA1480079211 | MTTP | c.1236+12A= (n.1236+12A=) c.987+12A= (n.987+12A=) c.1317+12A= (n.1317+12A=) | |
4 | g.99600745A>G | CA3022055 | MTTP | c.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 |
4 | g.99600747A= | CA1480079212 | MTTP | c.1236+14A= (n.1236+14A=) c.987+14A= (n.987+14A=) c.1317+14A= (n.1317+14A=) | |
4 | g.99600747A>G | CA553568415 | MTTP | c.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 |
4 | g.99600751T>C | CA2553875259 | MTTP | c.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 |
4 | g.99600752A>G | CA2578152335 | MTTP | c.1236+19A>G (n.1236+19A>G) c.987+19A>G (n.987+19A>G) c.1317+19A>G (n.1317+19A>G) | |
4 | g.99600753_99600754del | CA2762812123 | MTTP | c.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) | |
4 | g.99600754A= | CA1480079213 | MTTP | c.1236+21A= (n.1236+21A=) c.987+21A= (n.987+21A=) c.1317+21A= (n.1317+21A=) | |
4 | g.99600754A>G | CA3022056 | MTTP | c.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 |
4 | g.99600756A>G | CA2578152336 | MTTP | c.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 |
4 | g.99600757C>A | CA2671534169 | MTTP | c.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 |
4 | g.99600757C>T | CA2762812130 | MTTP | c.1236+24C>T (n.1236+24C>T) c.987+24C>T (n.987+24C>T) c.1317+24C>T (n.1317+24C>T) | |
4 | g.99600758_99600759del | CA2762812129 | MTTP | c.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) | |
4 | g.99600758_99600761del | CA2762812131 | MTTP | c.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) | |
4 | g.99600758C>A | CA3022057 | MTTP | c.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 |
4 | g.99600758C= | CA1480079214 | MTTP | c.1236+25C= (n.1236+25C=) c.987+25C= (n.987+25C=) c.1317+25C= (n.1317+25C=) | |
4 | g.99600758C>G | CA3022058 | MTTP | c.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 |
4 | g.99600759_99600760insAGA | CA2762812136 | MTTP | c.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) | |
4 | g.99600760T>A | CA2762812137 | MTTP | c.1236+27T>A (n.1236+27T>A) c.987+27T>A (n.987+27T>A) c.1317+27T>A (n.1317+27T>A) | |
4 | g.99600760T>C | CA1480079215 | MTTP | c.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 |
4 | g.99600760T= | CA1480079216 | MTTP | c.1236+27T= (n.1236+27T=) c.987+27T= (n.987+27T=) c.1317+27T= (n.1317+27T=) | |
4 | g.99600760_99600762del | CA2578152337 | MTTP | c.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) | |
4 | g.99600761C>A | CA102631656 | MTTP | c.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 |
4 | g.99600761C= | CA1480079217 | MTTP | c.1236+28C= (n.1236+28C=) c.987+28C= (n.987+28C=) c.1317+28C= (n.1317+28C=) | |
4 | g.99600761C>G | CA3022059 | MTTP | c.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 |
4 | g.99600761C>T | CA553568422 | MTTP | c.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 |
4 | g.99600762A>G | CA2671534170 | MTTP | c.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 |
4 | g.99600763del | CA2762812139 | MTTP | c.1236+30del (n.1236+30del) c.987+30del (n.987+30del) c.1317+30del (n.1317+30del) | |
4 | g.99600763A>G | CA2671534171 | MTTP | c.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 |
4 | g.99600764C>A | CA553568423 | MTTP | c.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 |
4 | g.99600764C= | CA1480079218 | MTTP | c.1236+31C= (n.1236+31C=) c.987+31C= (n.987+31C=) c.1317+31C= (n.1317+31C=) | |
4 | g.99600764C>T | CA2671534172 | MTTP | c.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 |
4 | g.99600765T>A | CA2762812141 | MTTP | c.1236+32T>A (n.1236+32T>A) c.987+32T>A (n.987+32T>A) c.1317+32T>A (n.1317+32T>A) | |
4 | g.99600765_99600766insACA | CA2762812142 | MTTP | c.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) | |
4 | g.99600766C>A | CA2762812144 | MTTP | c.1236+33C>A (n.1236+33C>A) c.987+33C>A (n.987+33C>A) c.1317+33C>A (n.1317+33C>A) | |
4 | g.99600766C= | CA1480079219 | MTTP | c.1236+33C= (n.1236+33C=) c.987+33C= (n.987+33C=) c.1317+33C= (n.1317+33C=) | |
4 | g.99600766C>T | CA1065946483 | MTTP | c.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 |
4 | g.99600766_99600767insA | CA2762812147 | MTTP | c.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) | |
4 | g.99600767C= | CA1480079220 | MTTP | c.1236+34C= (n.1236+34C=) c.987+34C= (n.987+34C=) c.1317+34C= (n.1317+34C=) | |
4 | g.99600767C>G | CA2671534173 | MTTP | c.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 |
4 | g.99600767C>T | CA3022060 | MTTP | c.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 |
4 | g.99600768del | CA2762812150 | MTTP | c.1236+35del (n.1236+35del) c.987+35del (n.987+35del) c.1317+35del (n.1317+35del) | |
4 | g.99600768T>A | CA3022061 | MTTP | c.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 |
4 | g.99600768T>C | CA553568424 | MTTP | c.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 |
4 | g.99600768T= | CA1480079221 | MTTP | c.1236+35T= (n.1236+35T=) c.987+35T= (n.987+35T=) c.1317+35T= (n.1317+35T=) | |
4 | g.99600769A= | CA1480079222 | MTTP | c.1236+36A= (n.1236+36A=) c.987+36A= (n.987+36A=) c.1317+36A= (n.1317+36A=) | |
4 | g.99600769A>G | CA553568425 | MTTP | c.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 |
4 | g.99600769_99600770insACT | CA2762812153 | MTTP | c.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) | |
4 | g.99600770T>A | CA2671534174 | MTTP | c.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 |
4 | g.99600770T>C | CA553568426 | MTTP | c.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 |
4 | g.99600770T= | CA1480079223 | MTTP | c.1236+37T= (n.1236+37T=) c.987+37T= (n.987+37T=) c.1317+37T= (n.1317+37T=) | |
4 | g.99600771A= | CA1480079224 | MTTP | c.1236+38A= (n.1236+38A=) c.987+38A= (n.987+38A=) c.1317+38A= (n.1317+38A=) | |
4 | g.99600771A>G | CA3022062 | MTTP | c.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 |
4 | g.99600772A>G | CA2671534175 | MTTP | c.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 |
4 | g.99600773A>C | CA2578152338 | MTTP | c.1236+40A>C (n.1236+40A>C) c.987+40A>C (n.987+40A>C) c.1317+40A>C (n.1317+40A>C) | |
4 | g.99600774A= | CA1480079226 | MTTP | c.1236+41A= (n.1236+41A=) c.987+41A= (n.987+41A=) c.1317+41A= (n.1317+41A=) | |
4 | g.99600774A>G | CA3022063 | MTTP | c.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 |
4 | g.99600774_99600775del | CA2762812156 | MTTP | c.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) | |
4 | g.99600774_99600777delinsACTT | CA1480079225 | MTTP | c.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) | |
4 | g.99600775C>A | CA2671534176 | MTTP | c.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 |
4 | g.99600778_99600780del | CA3022064 | MTTP | c.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 |
4 | g.99600776T>G | CA2762812158 | MTTP | c.1236+43T>G (n.1236+43T>G) c.987+43T>G (n.987+43T>G) c.1317+43T>G (n.1317+43T>G) | |
4 | g.99600777_99600790del | CA2762812159 | MTTP | c.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) | |
4 | g.99600778_99600781del | CA2762812160 | MTTP | c.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) | |
4 | g.99600779T>A | CA2578152339 | MTTP | c.1236+46T>A (n.1236+46T>A) c.987+46T>A (n.987+46T>A) c.1317+46T>A (n.1317+46T>A) | |
4 | g.99600779T>G | CA2671534177 | MTTP | c.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 |
4 | g.99600779_99600780insAC | CA2762812162 | MTTP | c.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) | |
4 | g.99600781_99600782insCTT | CA2762812164 | MTTP | c.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) | |
4 | g.99600782_99600783insAGG | CA2762812166 | MTTP | c.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) | |
4 | g.99600783G>A | CA553568427 | MTTP | c.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 |
4 | g.99600783G>C | CA2762812168 | MTTP | c.1236+50G>C (n.1236+50G>C) c.987+50G>C (n.987+50G>C) c.1317+50G>C (n.1317+50G>C) | |
4 | g.99600783G= | CA1480079227 | MTTP | c.1236+50G= (n.1236+50G=) c.987+50G= (n.987+50G=) c.1317+50G= (n.1317+50G=) | |
4 | g.99600783_99600789del | CA2762812167 | MTTP | c.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) | |
4 | g.99600784A= | CA1480079228 | MTTP | c.1236+51A= (n.1236+51A=) c.987+51A= (n.987+51A=) c.1317+51A= (n.1317+51A=) | |
4 | g.99600784A>G | CA3022065 | MTTP | c.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 |
4 | g.99600785A>C | CA2671534178 | MTTP | c.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 |
4 | g.99600786_99600790del | CA2762812169 | MTTP | c.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) | |
4 | g.99600788_99600790del | CA2762812170 | MTTP | c.1236+55_1236+57del (n.1236+55_1236+57del) c.987+55_987+57del (n.987+55_987+57del) c.1317+55_1317+57del (n.1317+55_1317+57del) | |
4 | g.99600787_99600788insAG | CA2762812172 | MTTP | c.1236+54_1236+55insAG (n.1236+54_1236+55insAG) c.987+54_987+55insAG (n.987+54_987+55insAG) c.1317+54_1317+55insAG (n.1317+54_1317+55insAG) | |
4 | g.99600789T>A | CA2671534179 | MTTP | c.1236+56T>A (n.1236+56T>A) c.987+56T>A (n.987+56T>A) c.1317+56T>A (n.1317+56T>A) | gnomAD v4 |
4 | g.99600791dup | CA2762812173 | MTTP | c.1236+58dup (n.1236+58dup) c.987+58dup (n.987+58dup) c.1317+58dup (n.1317+58dup) | |
4 | g.99600791_99600793del | CA2762812174 | MTTP | c.1236+58_1236+60del (n.1236+58_1236+60del) c.987+58_987+60del (n.987+58_987+60del) c.1317+58_1317+60del (n.1317+58_1317+60del) | |
4 | g.99600791A= | CA1480079229 | MTTP | c.1236+58A= (n.1236+58A=) c.987+58A= (n.987+58A=) c.1317+58A= (n.1317+58A=) | |
4 | g.99600791A>C | CA2762812177 | MTTP | c.1236+58A>C (n.1236+58A>C) c.987+58A>C (n.987+58A>C) c.1317+58A>C (n.1317+58A>C) | |
4 | g.99600791A>G | CA102631684 | MTTP | c.1236+58A>G (n.1236+58A>G) c.987+58A>G (n.987+58A>G) c.1317+58A>G (n.1317+58A>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.99600792C= | CA1480079230 | MTTP | c.1236+59C= (n.1236+59C=) c.987+59C= (n.987+59C=) c.1317+59C= (n.1317+59C=) | |
4 | g.99600792C>G | CA2762812180 | MTTP | c.1236+59C>G (n.1236+59C>G) c.987+59C>G (n.987+59C>G) c.1317+59C>G (n.1317+59C>G) | |
4 | g.99600792C>T | CA800754071 | MTTP | c.1236+59C>T (n.1236+59C>T) c.987+59C>T (n.987+59C>T) c.1317+59C>T (n.1317+59C>T) | dbSNP gnomAD v4 |
4 | g.99600793A>G | CA2671534180 | MTTP | c.1236+60A>G (n.1236+60A>G) c.987+60A>G (n.987+60A>G) c.1317+60A>G (n.1317+60A>G) | gnomAD v4 |
4 | g.99600793_99600794del | CA2762812183 | MTTP | c.1236+60_1236+61del (n.1236+60_1236+61del) c.987+60_987+61del (n.987+60_987+61del) c.1317+60_1317+61del (n.1317+60_1317+61del) | |
4 | g.99600793_99600794insCAG | CA2762812185 | MTTP | c.1236+60_1236+61insCAG (n.1236+60_1236+61insCAG) c.987+60_987+61insCAG (n.987+60_987+61insCAG) c.1317+60_1317+61insCAG (n.1317+60_1317+61insCAG) | |
4 | g.99600794G>T | CA2671534181 | MTTP | c.1236+61G>T (n.1236+61G>T) c.987+61G>T (n.987+61G>T) c.1317+61G>T (n.1317+61G>T) | gnomAD v4 |
4 | g.99600794_99600798delinsGTAAT | CA1480079231 | MTTP | c.1236+61_1236+65delinsGTAAT (n.1236+61_1236+65delinsGTAAT) c.987+61_987+65delinsGTAAT (n.987+61_987+65delinsGTAAT) c.1317+61_1317+65delinsGTAAT (n.1317+61_1317+65delinsGTAAT) | |
4 | g.99600794_99600810del | CA2762812187 | MTTP | c.1236+61_1236+77del (n.1236+61_1236+77del) c.987+61_987+77del (n.987+61_987+77del) c.1317+61_1317+77del (n.1317+61_1317+77del) |