| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.66850350dup | CA2580084574 | PC | c.2591dup (p.Asn864LysfsTer2) n.290-282dup c.*600dup (n.*600dup) c.*1067dup (n.*1067dup) c.1070dup (p.Asn357LysfsTer2) c.1295dup (p.Asn432LysfsTer2) c.1226dup (p.Asn409LysfsTer2) | ClinVar |
| 11 | g.66850348T>A | CA381492630 | PC | c.2590A>T (p.Asn864Tyr) n.290-283A>T c.*599A>T (n.*599A>T) c.*1066A>T (n.*1066A>T) c.1069A>T (p.Asn357Tyr) c.1294A>T (p.Asn432Tyr) c.1225A>T (p.Asn409Tyr) | |
| 11 | g.66850348T>C | CA381492631 | PC | c.2590A>G (p.Asn864Asp) n.290-283A>G c.*599A>G (n.*599A>G) c.*1066A>G (n.*1066A>G) c.1069A>G (p.Asn357Asp) c.1294A>G (p.Asn432Asp) c.1225A>G (p.Asn409Asp) | |
| 11 | g.66850348T>G | CA381492632 | PC | c.2590A>C (p.Asn864His) n.290-283A>C c.*599A>C (n.*599A>C) c.*1066A>C (n.*1066A>C) c.1069A>C (p.Asn357His) c.1294A>C (p.Asn432His) c.1225A>C (p.Asn409His) | |
| 11 | g.66850349T>A | CA381492633 | PC | c.2589A>T (p.Glu863Asp) n.290-284A>T c.*598A>T (n.*598A>T) c.*1065A>T (n.*1065A>T) c.1068A>T (p.Glu356Asp) c.1293A>T (p.Glu431Asp) c.1224A>T (p.Glu408Asp) | |
| 11 | g.66850349T>C | CA475500771 | PC | c.2589A>G (p.Glu863=) n.290-284A>G c.*598A>G (n.*598A>G) c.*1065A>G (n.*1065A>G) c.1068A>G (p.Glu356=) c.1293A>G (p.Glu431=) c.1224A>G (p.Glu408=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66850349T>G | CA6131032 | PC | c.2589A>C (p.Glu863Asp) n.290-284A>C c.*598A>C (n.*598A>C) c.*1065A>C (n.*1065A>C) c.1068A>C (p.Glu356Asp) c.1293A>C (p.Glu431Asp) c.1224A>C (p.Glu408Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66850349T= | CA1979879476 | PC | c.2589A= (p.Glu863=) n.290-284A= c.*598A= (n.*598A=) c.*1065A= (n.*1065A=) c.1068A= (p.Glu356=) c.1293A= (p.Glu431=) c.1224A= (p.Glu408=) | |
| 11 | g.66850350T>A | CA381492634 | PC | c.2588A>T (p.Glu863Val) n.290-285A>T c.*597A>T (n.*597A>T) c.*1064A>T (n.*1064A>T) c.1067A>T (p.Glu356Val) c.1292A>T (p.Glu431Val) c.1223A>T (p.Glu408Val) | |
| 11 | g.66850350T>C | CA381492635 | PC | c.2588A>G (p.Glu863Gly) n.290-285A>G c.*597A>G (n.*597A>G) c.*1064A>G (n.*1064A>G) c.1067A>G (p.Glu356Gly) c.1292A>G (p.Glu431Gly) c.1223A>G (p.Glu408Gly) | gnomAD v4 |
| 11 | g.66850350T>G | CA381492636 | PC | c.2588A>C (p.Glu863Ala) n.290-285A>C c.*597A>C (n.*597A>C) c.*1064A>C (n.*1064A>C) c.1067A>C (p.Glu356Ala) c.1292A>C (p.Glu431Ala) c.1223A>C (p.Glu408Ala) | gnomAD v4 |
| 11 | g.66850351C>A | CA381492639 | PC | c.2587G>T (p.Glu863Ter) n.290-286G>T c.*596G>T (n.*596G>T) c.*1063G>T (n.*1063G>T) c.1066G>T (p.Glu356Ter) c.1291G>T (p.Glu431Ter) c.1222G>T (p.Glu408Ter) | |
| 11 | g.66850351C>G | CA381492638 | PC | c.2587G>C (p.Glu863Gln) n.290-286G>C c.*596G>C (n.*596G>C) c.*1063G>C (n.*1063G>C) c.1066G>C (p.Glu356Gln) c.1291G>C (p.Glu431Gln) c.1222G>C (p.Glu408Gln) | |
| 11 | g.66850351C>T | CA381492637 | PC | c.2587G>A (p.Glu863Lys) n.290-286G>A c.*596G>A (n.*596G>A) c.*1063G>A (n.*1063G>A) c.1066G>A (p.Glu356Lys) c.1291G>A (p.Glu431Lys) c.1222G>A (p.Glu408Lys) | gnomAD v4 |
| 11 | g.66850352A= | CA1979879479 | PC | c.2586T= (p.Tyr862=) n.290-287T= c.*595T= (n.*595T=) c.*1062T= (n.*1062T=) c.1065T= (p.Tyr355=) c.1290T= (p.Tyr430=) c.1221T= (p.Tyr407=) | |
| 11 | g.66850352A>C | CA381492640 | PC | c.2586T>G (p.Tyr862Ter) n.290-287T>G c.*595T>G (n.*595T>G) c.*1062T>G (n.*1062T>G) c.1065T>G (p.Tyr355Ter) c.1290T>G (p.Tyr430Ter) c.1221T>G (p.Tyr407Ter) | |
| 11 | g.66850352A>G | CA6131033 | PC | c.2586T>C (p.Tyr862=) n.290-287T>C c.*595T>C (n.*595T>C) c.*1062T>C (n.*1062T>C) c.1065T>C (p.Tyr355=) c.1290T>C (p.Tyr430=) c.1221T>C (p.Tyr407=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850352A>T | CA381492641 | PC | c.2586T>A (p.Tyr862Ter) n.290-287T>A c.*595T>A (n.*595T>A) c.*1062T>A (n.*1062T>A) c.1065T>A (p.Tyr355Ter) c.1290T>A (p.Tyr430Ter) c.1221T>A (p.Tyr407Ter) | |
| 11 | g.66850353T>A | CA381492642 | PC | c.2585A>T (p.Tyr862Phe) n.290-288A>T c.*594A>T (n.*594A>T) c.*1061A>T (n.*1061A>T) c.1064A>T (p.Tyr355Phe) c.1289A>T (p.Tyr430Phe) c.1220A>T (p.Tyr407Phe) | |
| 11 | g.66850353T>C | CA381492643 | PC | c.2585A>G (p.Tyr862Cys) n.290-288A>G c.*594A>G (n.*594A>G) c.*1061A>G (n.*1061A>G) c.1064A>G (p.Tyr355Cys) c.1289A>G (p.Tyr430Cys) c.1220A>G (p.Tyr407Cys) | gnomAD v4 |
| 11 | g.66850353T>G | CA381492644 | PC | c.2585A>C (p.Tyr862Ser) n.290-288A>C c.*594A>C (n.*594A>C) c.*1061A>C (n.*1061A>C) c.1064A>C (p.Tyr355Ser) c.1289A>C (p.Tyr430Ser) c.1220A>C (p.Tyr407Ser) | |
| 11 | g.66850354A>C | CA381492645 | PC | c.2584T>G (p.Tyr862Asp) n.290-289T>G c.*593T>G (n.*593T>G) c.*1060T>G (n.*1060T>G) c.1063T>G (p.Tyr355Asp) c.1288T>G (p.Tyr430Asp) c.1219T>G (p.Tyr407Asp) | |
| 11 | g.66850354A>G | CA381492646 | PC | c.2584T>C (p.Tyr862His) n.290-289T>C c.*593T>C (n.*593T>C) c.*1060T>C (n.*1060T>C) c.1063T>C (p.Tyr355His) c.1288T>C (p.Tyr430His) c.1219T>C (p.Tyr407His) | |
| 11 | g.66850354A>T | CA381492647 | PC | c.2584T>A (p.Tyr862Asn) n.290-289T>A c.*593T>A (n.*593T>A) c.*1060T>A (n.*1060T>A) c.1063T>A (p.Tyr355Asn) c.1288T>A (p.Tyr430Asn) c.1219T>A (p.Tyr407Asn) | |
| 11 | g.66850355C>A | CA475500772 | PC | c.2583G>T (p.Val861=) n.290-290G>T c.*592G>T (n.*592G>T) c.*1059G>T (n.*1059G>T) c.1062G>T (p.Val354=) c.1287G>T (p.Val429=) c.1218G>T (p.Val406=) | |
| 11 | g.66850355C>G | CA475500773 | PC | c.2583G>C (p.Val861=) n.290-290G>C c.*592G>C (n.*592G>C) c.*1059G>C (n.*1059G>C) c.1062G>C (p.Val354=) c.1287G>C (p.Val429=) c.1218G>C (p.Val406=) | |
| 11 | g.66850355C>T | CA475500774 | PC | c.2583G>A (p.Val861=) n.290-290G>A c.*592G>A (n.*592G>A) c.*1059G>A (n.*1059G>A) c.1062G>A (p.Val354=) c.1287G>A (p.Val429=) c.1218G>A (p.Val406=) | dbSNP gnomAD v4 |
| 11 | g.66850356A>C | CA381492648 | PC | c.2582T>G (p.Val861Gly) n.290-291T>G c.*591T>G (n.*591T>G) c.*1058T>G (n.*1058T>G) c.1061T>G (p.Val354Gly) c.1286T>G (p.Val429Gly) c.1217T>G (p.Val406Gly) | |
| 11 | g.66850356A>G | CA381492649 | PC | c.2582T>C (p.Val861Ala) n.290-291T>C c.*591T>C (n.*591T>C) c.*1058T>C (n.*1058T>C) c.1061T>C (p.Val354Ala) c.1286T>C (p.Val429Ala) c.1217T>C (p.Val406Ala) | |
| 11 | g.66850356A>T | CA381492650 | PC | c.2582T>A (p.Val861Glu) n.290-291T>A c.*591T>A (n.*591T>A) c.*1058T>A (n.*1058T>A) c.1061T>A (p.Val354Glu) c.1286T>A (p.Val429Glu) c.1217T>A (p.Val406Glu) | |
| 11 | g.66850357del | CA2499221217 | PC | c.2581del (p.Val861CysfsTer?) n.290-292del c.*590del (n.*590del) c.*1057del (n.*1057del) c.1060del (p.Val354CysfsTer?) c.1285del (p.Val429CysfsTer?) c.1216del (p.Val406CysfsTer?) | ClinVar dbSNP |
| 11 | g.66850357C>A | CA381492653 | PC | c.2581G>T (p.Val861Leu) n.290-292G>T c.*590G>T (n.*590G>T) c.*1057G>T (n.*1057G>T) c.1060G>T (p.Val354Leu) c.1285G>T (p.Val429Leu) c.1216G>T (p.Val406Leu) | |
| 11 | g.66850357C>G | CA381492652 | PC | c.2581G>C (p.Val861Leu) n.290-292G>C c.*590G>C (n.*590G>C) c.*1057G>C (n.*1057G>C) c.1060G>C (p.Val354Leu) c.1285G>C (p.Val429Leu) c.1216G>C (p.Val406Leu) | |
| 11 | g.66850357C>T | CA381492651 | PC | c.2581G>A (p.Val861Met) n.290-292G>A c.*590G>A (n.*590G>A) c.*1057G>A (n.*1057G>A) c.1060G>A (p.Val354Met) c.1285G>A (p.Val429Met) c.1216G>A (p.Val406Met) | dbSNP gnomAD v4 |
| 11 | g.66850358G>A | CA292678 | PC | c.2580C>T (p.Asp860=) n.290-293C>T c.*589C>T (n.*589C>T) c.*1056C>T (n.*1056C>T) c.1059C>T (p.Asp353=) c.1284C>T (p.Asp428=) c.1215C>T (p.Asp405=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850358G>C | CA381492654 | PC | c.2580C>G (p.Asp860Glu) n.290-293C>G c.*589C>G (n.*589C>G) c.*1056C>G (n.*1056C>G) c.1059C>G (p.Asp353Glu) c.1284C>G (p.Asp428Glu) c.1215C>G (p.Asp405Glu) | dbSNP |
| 11 | g.66850358G= | CA1979879485 | PC | c.2580C= (p.Asp860=) n.290-293C= c.*589C= (n.*589C=) c.*1056C= (n.*1056C=) c.1059C= (p.Asp353=) c.1284C= (p.Asp428=) c.1215C= (p.Asp405=) | |
| 11 | g.66850358G>T | CA381492655 | PC | c.2580C>A (p.Asp860Glu) n.290-293C>A c.*589C>A (n.*589C>A) c.*1056C>A (n.*1056C>A) c.1059C>A (p.Asp353Glu) c.1284C>A (p.Asp428Glu) c.1215C>A (p.Asp405Glu) | |
| 11 | g.66850359T>A | CA381492656 | PC | c.2579A>T (p.Asp860Val) n.290-294A>T c.*588A>T (n.*588A>T) c.*1055A>T (n.*1055A>T) c.1058A>T (p.Asp353Val) c.1283A>T (p.Asp428Val) c.1214A>T (p.Asp405Val) | |
| 11 | g.66850359T>C | CA381492657 | PC | c.2579A>G (p.Asp860Gly) n.290-294A>G c.*588A>G (n.*588A>G) c.*1055A>G (n.*1055A>G) c.1058A>G (p.Asp353Gly) c.1283A>G (p.Asp428Gly) c.1214A>G (p.Asp405Gly) | |
| 11 | g.66850359T>G | CA381492658 | PC | c.2579A>C (p.Asp860Ala) n.290-294A>C c.*588A>C (n.*588A>C) c.*1055A>C (n.*1055A>C) c.1058A>C (p.Asp353Ala) c.1283A>C (p.Asp428Ala) c.1214A>C (p.Asp405Ala) | |
| 11 | g.66850360C>A | CA381492659 | PC | c.2578G>T (p.Asp860Tyr) n.290-295G>T c.*587G>T (n.*587G>T) c.*1054G>T (n.*1054G>T) c.1057G>T (p.Asp353Tyr) c.1282G>T (p.Asp428Tyr) c.1213G>T (p.Asp405Tyr) | |
| 11 | g.66850360C>G | CA381492660 | PC | c.2578G>C (p.Asp860His) n.290-295G>C c.*587G>C (n.*587G>C) c.*1054G>C (n.*1054G>C) c.1057G>C (p.Asp353His) c.1282G>C (p.Asp428His) c.1213G>C (p.Asp405His) | |
| 11 | g.66850360C>T | CA381492661 | PC | c.2578G>A (p.Asp860Asn) n.290-295G>A c.*587G>A (n.*587G>A) c.*1054G>A (n.*1054G>A) c.1057G>A (p.Asp353Asn) c.1282G>A (p.Asp428Asn) c.1213G>A (p.Asp405Asn) | |
| 11 | g.66850361C>A | CA475500775 | PC | c.2577G>T (p.Ser859=) n.290-296G>T c.*586G>T (n.*586G>T) c.*1053G>T (n.*1053G>T) c.1056G>T (p.Ser352=) c.1281G>T (p.Ser427=) c.1212G>T (p.Ser404=) | |
| 11 | g.66850361C= | CA1979879496 | PC | c.2577G= (p.Ser859=) n.290-296G= c.*586G= (n.*586G=) c.*1053G= (n.*1053G=) c.1056G= (p.Ser352=) c.1281G= (p.Ser427=) c.1212G= (p.Ser404=) | |
| 11 | g.66850361C>G | CA475500776 | PC | c.2577G>C (p.Ser859=) n.290-296G>C c.*586G>C (n.*586G>C) c.*1053G>C (n.*1053G>C) c.1056G>C (p.Ser352=) c.1281G>C (p.Ser427=) c.1212G>C (p.Ser404=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66850361C>T | CA312860 | PC | c.2577G>A (p.Ser859=) n.290-296G>A c.*586G>A (n.*586G>A) c.*1053G>A (n.*1053G>A) c.1056G>A (p.Ser352=) c.1281G>A (p.Ser427=) c.1212G>A (p.Ser404=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850362G>A | CA381492662 | PC | c.2576C>T (p.Ser859Leu) n.290-297C>T c.*585C>T (n.*585C>T) c.*1052C>T (n.*1052C>T) c.1055C>T (p.Ser352Leu) c.1280C>T (p.Ser427Leu) c.1211C>T (p.Ser404Leu) | gnomAD v4 COSMIC |
| 11 | g.66850362G>C | CA381492663 | PC | c.2576C>G (p.Ser859Trp) n.290-297C>G c.*585C>G (n.*585C>G) c.*1052C>G (n.*1052C>G) c.1055C>G (p.Ser352Trp) c.1280C>G (p.Ser427Trp) c.1211C>G (p.Ser404Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.66850362G= | CA1979879499 | PC | c.2576C= (p.Ser859=) n.290-297C= c.*585C= (n.*585C=) c.*1052C= (n.*1052C=) c.1055C= (p.Ser352=) c.1280C= (p.Ser427=) c.1211C= (p.Ser404=) | |
| 11 | g.66850362G>T | CA381492664 | PC | c.2576C>A (p.Ser859Ter) n.290-297C>A c.*585C>A (n.*585C>A) c.*1052C>A (n.*1052C>A) c.1055C>A (p.Ser352Ter) c.1280C>A (p.Ser427Ter) c.1211C>A (p.Ser404Ter) | ClinVar |
| 11 | g.66850363A>C | CA381492667 | PC | c.2575T>G (p.Ser859Ala) n.290-298T>G c.*584T>G (n.*584T>G) c.*1051T>G (n.*1051T>G) c.1054T>G (p.Ser352Ala) c.1279T>G (p.Ser427Ala) c.1210T>G (p.Ser404Ala) | |
| 11 | g.66850363A>G | CA381492665 | PC | c.2575T>C (p.Ser859Pro) n.290-298T>C c.*584T>C (n.*584T>C) c.*1051T>C (n.*1051T>C) c.1054T>C (p.Ser352Pro) c.1279T>C (p.Ser427Pro) c.1210T>C (p.Ser404Pro) | |
| 11 | g.66850363A>T | CA381492666 | PC | c.2575T>A (p.Ser859Thr) n.290-298T>A c.*584T>A (n.*584T>A) c.*1051T>A (n.*1051T>A) c.1054T>A (p.Ser352Thr) c.1279T>A (p.Ser427Thr) c.1210T>A (p.Ser404Thr) | |
| 11 | g.66850364G>A | CA6131034 | PC | c.2574C>T (p.Asn858=) n.290-299C>T c.*583C>T (n.*583C>T) c.*1050C>T (n.*1050C>T) c.1053C>T (p.Asn351=) c.1278C>T (p.Asn426=) c.1209C>T (p.Asn403=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850364G>C | CA381492668 | PC | c.2574C>G (p.Asn858Lys) n.290-299C>G c.*583C>G (n.*583C>G) c.*1050C>G (n.*1050C>G) c.1053C>G (p.Asn351Lys) c.1278C>G (p.Asn426Lys) c.1209C>G (p.Asn403Lys) | |
| 11 | g.66850364G= | CA1979879501 | PC | c.2574C= (p.Asn858=) n.290-299C= c.*583C= (n.*583C=) c.*1050C= (n.*1050C=) c.1053C= (p.Asn351=) c.1278C= (p.Asn426=) c.1209C= (p.Asn403=) | |
| 11 | g.66850364G>T | CA381492669 | PC | c.2574C>A (p.Asn858Lys) n.290-299C>A c.*583C>A (n.*583C>A) c.*1050C>A (n.*1050C>A) c.1053C>A (p.Asn351Lys) c.1278C>A (p.Asn426Lys) c.1209C>A (p.Asn403Lys) | COSMIC |
| 11 | g.66850365T>A | CA381492670 | PC | c.2573A>T (p.Asn858Ile) n.290-300A>T c.*582A>T (n.*582A>T) c.*1049A>T (n.*1049A>T) c.1052A>T (p.Asn351Ile) c.1277A>T (p.Asn426Ile) c.1208A>T (p.Asn403Ile) | |
| 11 | g.66850365T>C | CA381492671 | PC | c.2573A>G (p.Asn858Ser) n.290-300A>G c.*582A>G (n.*582A>G) c.*1049A>G (n.*1049A>G) c.1052A>G (p.Asn351Ser) c.1277A>G (p.Asn426Ser) c.1208A>G (p.Asn403Ser) | |
| 11 | g.66850365T>G | CA381492672 | PC | c.2573A>C (p.Asn858Thr) n.290-300A>C c.*582A>C (n.*582A>C) c.*1049A>C (n.*1049A>C) c.1052A>C (p.Asn351Thr) c.1277A>C (p.Asn426Thr) c.1208A>C (p.Asn403Thr) | |
| 11 | g.66850366T>A | CA381492673 | PC | c.2572A>T (p.Asn858Tyr) n.290-301A>T c.*581A>T (n.*581A>T) c.*1048A>T (n.*1048A>T) c.1051A>T (p.Asn351Tyr) c.1276A>T (p.Asn426Tyr) c.1207A>T (p.Asn403Tyr) | |
| 11 | g.66850366T>C | CA381492674 | PC | c.2572A>G (p.Asn858Asp) n.290-301A>G c.*581A>G (n.*581A>G) c.*1048A>G (n.*1048A>G) c.1051A>G (p.Asn351Asp) c.1276A>G (p.Asn426Asp) c.1207A>G (p.Asn403Asp) | |
| 11 | g.66850366T>G | CA381492675 | PC | c.2572A>C (p.Asn858His) n.290-301A>C c.*581A>C (n.*581A>C) c.*1048A>C (n.*1048A>C) c.1051A>C (p.Asn351His) c.1276A>C (p.Asn426His) c.1207A>C (p.Asn403His) | |
| 11 | g.66850367G>A | CA475500777 | PC | c.2571C>T (p.Gly857=) n.290-302C>T c.*580C>T (n.*580C>T) c.*1047C>T (n.*1047C>T) c.1050C>T (p.Gly350=) c.1275C>T (p.Gly425=) c.1206C>T (p.Gly402=) | dbSNP |
| 11 | g.66850367G>C | CA475500778 | PC | c.2571C>G (p.Gly857=) n.290-302C>G c.*580C>G (n.*580C>G) c.*1047C>G (n.*1047C>G) c.1050C>G (p.Gly350=) c.1275C>G (p.Gly425=) c.1206C>G (p.Gly402=) | |
| 11 | g.66850367G= | CA1979879505 | PC | c.2571C= (p.Gly857=) n.290-302C= c.*580C= (n.*580C=) c.*1047C= (n.*1047C=) c.1050C= (p.Gly350=) c.1275C= (p.Gly425=) c.1206C= (p.Gly402=) | |
| 11 | g.66850367G>T | CA475500779 | PC | c.2571C>A (p.Gly857=) n.290-302C>A c.*580C>A (n.*580C>A) c.*1047C>A (n.*1047C>A) c.1050C>A (p.Gly350=) c.1275C>A (p.Gly425=) c.1206C>A (p.Gly402=) | dbSNP COSMIC |
| 11 | g.66850368C>A | CA381492676 | PC | c.2570G>T (p.Gly857Val) n.290-303G>T c.*579G>T (n.*579G>T) c.*1046G>T (n.*1046G>T) c.1049G>T (p.Gly350Val) c.1274G>T (p.Gly425Val) c.1205G>T (p.Gly402Val) | |
| 11 | g.66850368C>G | CA381492677 | PC | c.2570G>C (p.Gly857Ala) n.290-303G>C c.*579G>C (n.*579G>C) c.*1046G>C (n.*1046G>C) c.1049G>C (p.Gly350Ala) c.1274G>C (p.Gly425Ala) c.1205G>C (p.Gly402Ala) | |
| 11 | g.66850368C>T | CA381492678 | PC | c.2570G>A (p.Gly857Asp) n.290-303G>A c.*579G>A (n.*579G>A) c.*1046G>A (n.*1046G>A) c.1049G>A (p.Gly350Asp) c.1274G>A (p.Gly425Asp) c.1205G>A (p.Gly402Asp) | |
| 11 | g.66850369C>A | CA381492679 | PC | c.2569G>T (p.Gly857Cys) n.290-304G>T c.*578G>T (n.*578G>T) c.*1045G>T (n.*1045G>T) c.1048G>T (p.Gly350Cys) c.1273G>T (p.Gly425Cys) c.1204G>T (p.Gly402Cys) | |
| 11 | g.66850369C>G | CA381492681 | PC | c.2569G>C (p.Gly857Arg) n.290-304G>C c.*578G>C (n.*578G>C) c.*1045G>C (n.*1045G>C) c.1048G>C (p.Gly350Arg) c.1273G>C (p.Gly425Arg) c.1204G>C (p.Gly402Arg) | |
| 11 | g.66850369C>T | CA381492680 | PC | c.2569G>A (p.Gly857Ser) n.290-304G>A c.*578G>A (n.*578G>A) c.*1045G>A (n.*1045G>A) c.1048G>A (p.Gly350Ser) c.1273G>A (p.Gly425Ser) c.1204G>A (p.Gly402Ser) | gnomAD v4 |
| 11 | g.66850370A>C | CA475500781 | PC | c.2568T>G (p.Ser856=) n.290-305T>G c.*577T>G (n.*577T>G) c.*1044T>G (n.*1044T>G) c.1047T>G (p.Ser349=) c.1272T>G (p.Ser424=) c.1203T>G (p.Ser401=) | ClinVar dbSNP |
| 11 | g.66850370A>G | CA475500780 | PC | c.2568T>C (p.Ser856=) n.290-305T>C c.*577T>C (n.*577T>C) c.*1044T>C (n.*1044T>C) c.1047T>C (p.Ser349=) c.1272T>C (p.Ser424=) c.1203T>C (p.Ser401=) | |
| 11 | g.66850370A>T | CA475500782 | PC | c.2568T>A (p.Ser856=) n.290-305T>A c.*577T>A (n.*577T>A) c.*1044T>A (n.*1044T>A) c.1047T>A (p.Ser349=) c.1272T>A (p.Ser424=) c.1203T>A (p.Ser401=) | |
| 11 | g.66850371G>A | CA381492682 | PC | c.2567C>T (p.Ser856Phe) n.290-306C>T c.*576C>T (n.*576C>T) c.*1043C>T (n.*1043C>T) c.1046C>T (p.Ser349Phe) c.1271C>T (p.Ser424Phe) c.1202C>T (p.Ser401Phe) | gnomAD v4 |
| 11 | g.66850371G>C | CA381492684 | PC | c.2567C>G (p.Ser856Cys) n.290-306C>G c.*576C>G (n.*576C>G) c.*1043C>G (n.*1043C>G) c.1046C>G (p.Ser349Cys) c.1271C>G (p.Ser424Cys) c.1202C>G (p.Ser401Cys) | ClinVar |
| 11 | g.66850371G>T | CA381492683 | PC | c.2567C>A (p.Ser856Tyr) n.290-306C>A c.*576C>A (n.*576C>A) c.*1043C>A (n.*1043C>A) c.1046C>A (p.Ser349Tyr) c.1271C>A (p.Ser424Tyr) c.1202C>A (p.Ser401Tyr) | |
| 11 | g.66850372A= | CA1979879507 | PC | c.2566T= (p.Ser856=) n.290-307T= c.*575T= (n.*575T=) c.*1042T= (n.*1042T=) c.1045T= (p.Ser349=) c.1270T= (p.Ser424=) c.1201T= (p.Ser401=) | |
| 11 | g.66850372A>C | CA381492685 | PC | c.2566T>G (p.Ser856Ala) n.290-307T>G c.*575T>G (n.*575T>G) c.*1042T>G (n.*1042T>G) c.1045T>G (p.Ser349Ala) c.1270T>G (p.Ser424Ala) c.1201T>G (p.Ser401Ala) | |
| 11 | g.66850372A>G | CA381492686 | PC | c.2566T>C (p.Ser856Pro) n.290-307T>C c.*575T>C (n.*575T>C) c.*1042T>C (n.*1042T>C) c.1045T>C (p.Ser349Pro) c.1270T>C (p.Ser424Pro) c.1201T>C (p.Ser401Pro) | dbSNP |
| 11 | g.66850372A>T | CA381492687 | PC | c.2566T>A (p.Ser856Thr) n.290-307T>A c.*575T>A (n.*575T>A) c.*1042T>A (n.*1042T>A) c.1045T>A (p.Ser349Thr) c.1270T>A (p.Ser424Thr) c.1201T>A (p.Ser401Thr) | |
| 11 | g.66850373C>A | CA381492688 | PC | c.2565G>T (p.Lys855Asn) n.290-308G>T c.*574G>T (n.*574G>T) c.*1041G>T (n.*1041G>T) c.1044G>T (p.Lys348Asn) c.1269G>T (p.Lys423Asn) c.1200G>T (p.Lys400Asn) | |
| 11 | g.66850373C>G | CA381492689 | PC | c.2565G>C (p.Lys855Asn) n.290-308G>C c.*574G>C (n.*574G>C) c.*1041G>C (n.*1041G>C) c.1044G>C (p.Lys348Asn) c.1269G>C (p.Lys423Asn) c.1200G>C (p.Lys400Asn) | |
| 11 | g.66850373C>T | CA475500783 | PC | c.2565G>A (p.Lys855=) n.290-308G>A c.*574G>A (n.*574G>A) c.*1041G>A (n.*1041G>A) c.1044G>A (p.Lys348=) c.1269G>A (p.Lys423=) c.1200G>A (p.Lys400=) | |
| 11 | g.66850374T>A | CA381492692 | PC | c.2564A>T (p.Lys855Met) n.290-309A>T c.*573A>T (n.*573A>T) c.*1040A>T (n.*1040A>T) c.1043A>T (p.Lys348Met) c.1268A>T (p.Lys423Met) c.1199A>T (p.Lys400Met) | |
| 11 | g.66850374T>C | CA381492691 | PC | c.2564A>G (p.Lys855Arg) n.290-309A>G c.*573A>G (n.*573A>G) c.*1040A>G (n.*1040A>G) c.1043A>G (p.Lys348Arg) c.1268A>G (p.Lys423Arg) c.1199A>G (p.Lys400Arg) | |
| 11 | g.66850374T>G | CA381492690 | PC | c.2564A>C (p.Lys855Thr) n.290-309A>C c.*573A>C (n.*573A>C) c.*1040A>C (n.*1040A>C) c.1043A>C (p.Lys348Thr) c.1268A>C (p.Lys423Thr) c.1199A>C (p.Lys400Thr) | |
| 11 | g.66850375T>A | CA381492693 | PC | c.2563A>T (p.Lys855Ter) n.290-310A>T c.*572A>T (n.*572A>T) c.*1039A>T (n.*1039A>T) c.1042A>T (p.Lys348Ter) c.1267A>T (p.Lys423Ter) c.1198A>T (p.Lys400Ter) | COSMIC |
| 11 | g.66850375T>C | CA381492694 | PC | c.2563A>G (p.Lys855Glu) n.290-310A>G c.*572A>G (n.*572A>G) c.*1039A>G (n.*1039A>G) c.1042A>G (p.Lys348Glu) c.1267A>G (p.Lys423Glu) c.1198A>G (p.Lys400Glu) | |
| 11 | g.66850375T>G | CA381492695 | PC | c.2563A>C (p.Lys855Gln) n.290-310A>C c.*572A>C (n.*572A>C) c.*1039A>C (n.*1039A>C) c.1042A>C (p.Lys348Gln) c.1267A>C (p.Lys423Gln) c.1198A>C (p.Lys400Gln) | |
| 11 | g.66850376C>A | CA381492696 | PC | c.2562G>T (p.Met854Ile) n.290-311G>T c.*571G>T (n.*571G>T) c.*1038G>T (n.*1038G>T) c.1041G>T (p.Met347Ile) c.1266G>T (p.Met422Ile) c.1197G>T (p.Met399Ile) | |
| 11 | g.66850376C>G | CA381492697 | PC | c.2562G>C (p.Met854Ile) n.290-311G>C c.*571G>C (n.*571G>C) c.*1038G>C (n.*1038G>C) c.1041G>C (p.Met347Ile) c.1266G>C (p.Met422Ile) c.1197G>C (p.Met399Ile) | |
| 11 | g.66850376C>T | CA381492698 | PC | c.2562G>A (p.Met854Ile) n.290-311G>A c.*571G>A (n.*571G>A) c.*1038G>A (n.*1038G>A) c.1041G>A (p.Met347Ile) c.1266G>A (p.Met422Ile) c.1197G>A (p.Met399Ile) | |
| 11 | g.66850377A>C | CA381492701 | PC | c.2561T>G (p.Met854Arg) n.290-312T>G c.*570T>G (n.*570T>G) c.*1037T>G (n.*1037T>G) c.1040T>G (p.Met347Arg) c.1265T>G (p.Met422Arg) c.1196T>G (p.Met399Arg) | |
| 11 | g.66850377A>G | CA381492699 | PC | c.2561T>C (p.Met854Thr) n.290-312T>C c.*570T>C (n.*570T>C) c.*1037T>C (n.*1037T>C) c.1040T>C (p.Met347Thr) c.1265T>C (p.Met422Thr) c.1196T>C (p.Met399Thr) | |
| 11 | g.66850377A>T | CA381492700 | PC | c.2561T>A (p.Met854Lys) n.290-312T>A c.*570T>A (n.*570T>A) c.*1037T>A (n.*1037T>A) c.1040T>A (p.Met347Lys) c.1265T>A (p.Met422Lys) c.1196T>A (p.Met399Lys) | |
| 11 | g.66850378T>A | CA381492702 | PC | c.2560A>T (p.Met854Leu) n.290-313A>T c.*569A>T (n.*569A>T) c.*1036A>T (n.*1036A>T) c.1039A>T (p.Met347Leu) c.1264A>T (p.Met422Leu) c.1195A>T (p.Met399Leu) | |
| 11 | g.66850378T>C | CA381492703 | PC | c.2560A>G (p.Met854Val) n.290-313A>G c.*569A>G (n.*569A>G) c.*1036A>G (n.*1036A>G) c.1039A>G (p.Met347Val) c.1264A>G (p.Met422Val) c.1195A>G (p.Met399Val) | COSMIC |
| 11 | g.66850378T>G | CA381492704 | PC | c.2560A>C (p.Met854Leu) n.290-313A>C c.*569A>C (n.*569A>C) c.*1036A>C (n.*1036A>C) c.1039A>C (p.Met347Leu) c.1264A>C (p.Met422Leu) c.1195A>C (p.Met399Leu) | |
| 11 | g.66850379G>A | CA475500784 | PC | c.2559C>T (p.Thr853=) n.290-314C>T c.*568C>T (n.*568C>T) c.*1035C>T (n.*1035C>T) c.1038C>T (p.Thr346=) c.1263C>T (p.Thr421=) c.1194C>T (p.Thr398=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66850379G>C | CA475500785 | PC | c.2559C>G (p.Thr853=) n.290-314C>G c.*568C>G (n.*568C>G) c.*1035C>G (n.*1035C>G) c.1038C>G (p.Thr346=) c.1263C>G (p.Thr421=) c.1194C>G (p.Thr398=) | |
| 11 | g.66850379G= | CA1979879510 | PC | c.2559C= (p.Thr853=) n.290-314C= c.*568C= (n.*568C=) c.*1035C= (n.*1035C=) c.1038C= (p.Thr346=) c.1263C= (p.Thr421=) c.1194C= (p.Thr398=) | |
| 11 | g.66850379G>T | CA475500786 | PC | c.2559C>A (p.Thr853=) n.290-314C>A c.*568C>A (n.*568C>A) c.*1035C>A (n.*1035C>A) c.1038C>A (p.Thr346=) c.1263C>A (p.Thr421=) c.1194C>A (p.Thr398=) | ClinVar dbSNP |
| 11 | g.66850380G>A | CA381492705 | PC | c.2558C>T (p.Thr853Ile) n.290-315C>T c.*567C>T (n.*567C>T) c.*1034C>T (n.*1034C>T) c.1037C>T (p.Thr346Ile) c.1262C>T (p.Thr421Ile) c.1193C>T (p.Thr398Ile) | dbSNP |
| 11 | g.66850380G>C | CA381492706 | PC | c.2558C>G (p.Thr853Ser) n.290-315C>G c.*567C>G (n.*567C>G) c.*1034C>G (n.*1034C>G) c.1037C>G (p.Thr346Ser) c.1262C>G (p.Thr421Ser) c.1193C>G (p.Thr398Ser) | |
| 11 | g.66850380G= | CA1979879513 | PC | c.2558C= (p.Thr853=) n.290-315C= c.*567C= (n.*567C=) c.*1034C= (n.*1034C=) c.1037C= (p.Thr346=) c.1262C= (p.Thr421=) c.1193C= (p.Thr398=) | |
| 11 | g.66850380G>T | CA381492707 | PC | c.2558C>A (p.Thr853Asn) n.290-315C>A c.*567C>A (n.*567C>A) c.*1034C>A (n.*1034C>A) c.1037C>A (p.Thr346Asn) c.1262C>A (p.Thr421Asn) c.1193C>A (p.Thr398Asn) | |
| 11 | g.66850381T>A | CA381492708 | PC | c.2557A>T (p.Thr853Ser) n.290-316A>T c.*566A>T (n.*566A>T) c.*1033A>T (n.*1033A>T) c.1036A>T (p.Thr346Ser) c.1261A>T (p.Thr421Ser) c.1192A>T (p.Thr398Ser) | gnomAD v4 |
| 11 | g.66850381T>C | CA381492709 | PC | c.2557A>G (p.Thr853Ala) n.290-316A>G c.*566A>G (n.*566A>G) c.*1033A>G (n.*1033A>G) c.1036A>G (p.Thr346Ala) c.1261A>G (p.Thr421Ala) c.1192A>G (p.Thr398Ala) | |
| 11 | g.66850381T>G | CA381492710 | PC | c.2557A>C (p.Thr853Pro) n.290-316A>C c.*566A>C (n.*566A>C) c.*1033A>C (n.*1033A>C) c.1036A>C (p.Thr346Pro) c.1261A>C (p.Thr421Pro) c.1192A>C (p.Thr398Pro) | |
| 11 | g.66850382G>A | CA475500787 | PC | c.2556C>T (p.Ala852=) n.290-317C>T c.*565C>T (n.*565C>T) c.*1032C>T (n.*1032C>T) c.1035C>T (p.Ala345=) c.1260C>T (p.Ala420=) c.1191C>T (p.Ala397=) | dbSNP |
| 11 | g.66850382G>C | CA475500789 | PC | c.2556C>G (p.Ala852=) n.290-317C>G c.*565C>G (n.*565C>G) c.*1032C>G (n.*1032C>G) c.1035C>G (p.Ala345=) c.1260C>G (p.Ala420=) c.1191C>G (p.Ala397=) | |
| 11 | g.66850382G= | CA1979879514 | PC | c.2556C= (p.Ala852=) n.290-317C= c.*565C= (n.*565C=) c.*1032C= (n.*1032C=) c.1035C= (p.Ala345=) c.1260C= (p.Ala420=) c.1191C= (p.Ala397=) | |
| 11 | g.66850382G>T | CA475500788 | PC | c.2556C>A (p.Ala852=) n.290-317C>A c.*565C>A (n.*565C>A) c.*1032C>A (n.*1032C>A) c.1035C>A (p.Ala345=) c.1260C>A (p.Ala420=) c.1191C>A (p.Ala397=) | |
| 11 | g.66850383G>A | CA381492711 | PC | c.2555C>T (p.Ala852Val) n.290-318C>T c.*564C>T (n.*564C>T) c.*1031C>T (n.*1031C>T) c.1034C>T (p.Ala345Val) c.1259C>T (p.Ala420Val) c.1190C>T (p.Ala397Val) | |
| 11 | g.66850383G>C | CA381492712 | PC | c.2555C>G (p.Ala852Gly) n.290-318C>G c.*564C>G (n.*564C>G) c.*1031C>G (n.*1031C>G) c.1034C>G (p.Ala345Gly) c.1259C>G (p.Ala420Gly) c.1190C>G (p.Ala397Gly) | |
| 11 | g.66850383G>T | CA381492713 | PC | c.2555C>A (p.Ala852Asp) n.290-318C>A c.*564C>A (n.*564C>A) c.*1031C>A (n.*1031C>A) c.1034C>A (p.Ala345Asp) c.1259C>A (p.Ala420Asp) c.1190C>A (p.Ala397Asp) | |
| 11 | g.66850384C>A | CA381492714 | PC | c.2554G>T (p.Ala852Ser) n.290-319G>T c.*563G>T (n.*563G>T) c.*1030G>T (n.*1030G>T) c.1033G>T (p.Ala345Ser) c.1258G>T (p.Ala420Ser) c.1189G>T (p.Ala397Ser) | |
| 11 | g.66850384C>G | CA381492716 | PC | c.2554G>C (p.Ala852Pro) n.290-319G>C c.*563G>C (n.*563G>C) c.*1030G>C (n.*1030G>C) c.1033G>C (p.Ala345Pro) c.1258G>C (p.Ala420Pro) c.1189G>C (p.Ala397Pro) | dbSNP |
| 11 | g.66850384C>T | CA381492715 | PC | c.2554G>A (p.Ala852Thr) n.290-319G>A c.*563G>A (n.*563G>A) c.*1030G>A (n.*1030G>A) c.1033G>A (p.Ala345Thr) c.1258G>A (p.Ala420Thr) c.1189G>A (p.Ala397Thr) | dbSNP |
| 11 | g.66850385C>A | CA475500790 | PC | c.2553G>T (p.Thr851=) n.290-320G>T c.*562G>T (n.*562G>T) c.*1029G>T (n.*1029G>T) c.1032G>T (p.Thr344=) c.1257G>T (p.Thr419=) c.1188G>T (p.Thr396=) | dbSNP |
| 11 | g.66850385C= | CA1979879516 | PC | c.2553G= (p.Thr851=) n.290-320G= c.*562G= (n.*562G=) c.*1029G= (n.*1029G=) c.1032G= (p.Thr344=) c.1257G= (p.Thr419=) c.1188G= (p.Thr396=) | |
| 11 | g.66850385C>G | CA475500791 | PC | c.2553G>C (p.Thr851=) n.290-320G>C c.*562G>C (n.*562G>C) c.*1029G>C (n.*1029G>C) c.1032G>C (p.Thr344=) c.1257G>C (p.Thr419=) c.1188G>C (p.Thr396=) | |
| 11 | g.66850385C>T | CA6131035 | PC | c.2553G>A (p.Thr851=) n.290-320G>A c.*562G>A (n.*562G>A) c.*1029G>A (n.*1029G>A) c.1032G>A (p.Thr344=) c.1257G>A (p.Thr419=) c.1188G>A (p.Thr396=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850386G>A | CA381492717 | PC | c.2552C>T (p.Thr851Met) n.290-321C>T c.*561C>T (n.*561C>T) c.*1028C>T (n.*1028C>T) c.1031C>T (p.Thr344Met) c.1256C>T (p.Thr419Met) c.1187C>T (p.Thr396Met) | dbSNP gnomAD v4 |
| 11 | g.66850386G>C | CA381492718 | PC | c.2552C>G (p.Thr851Arg) n.290-321C>G c.*561C>G (n.*561C>G) c.*1028C>G (n.*1028C>G) c.1031C>G (p.Thr344Arg) c.1256C>G (p.Thr419Arg) c.1187C>G (p.Thr396Arg) | dbSNP |
| 11 | g.66850386G>T | CA381492719 | PC | c.2552C>A (p.Thr851Lys) n.290-321C>A c.*561C>A (n.*561C>A) c.*1028C>A (n.*1028C>A) c.1031C>A (p.Thr344Lys) c.1256C>A (p.Thr419Lys) c.1187C>A (p.Thr396Lys) | gnomAD v4 |
| 11 | g.66850387T>A | CA381492720 | PC | c.2551A>T (p.Thr851Ser) n.290-322A>T c.*560A>T (n.*560A>T) c.*1027A>T (n.*1027A>T) c.1030A>T (p.Thr344Ser) c.1255A>T (p.Thr419Ser) c.1186A>T (p.Thr396Ser) | |
| 11 | g.66850387T>C | CA6131036 | PC | c.2551A>G (p.Thr851Ala) n.290-322A>G c.*560A>G (n.*560A>G) c.*1027A>G (n.*1027A>G) c.1030A>G (p.Thr344Ala) c.1255A>G (p.Thr419Ala) c.1186A>G (p.Thr396Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850387T>G | CA381492721 | PC | c.2551A>C (p.Thr851Pro) n.290-322A>C c.*560A>C (n.*560A>C) c.*1027A>C (n.*1027A>C) c.1030A>C (p.Thr344Pro) c.1255A>C (p.Thr419Pro) c.1186A>C (p.Thr396Pro) | |
| 11 | g.66850387T= | CA1979879519 | PC | c.2551A= (p.Thr851=) n.290-322A= c.*560A= (n.*560A=) c.*1027A= (n.*1027A=) c.1030A= (p.Thr344=) c.1255A= (p.Thr419=) c.1186A= (p.Thr396=) | |
| 11 | g.66850388G>A | CA292675 | PC | c.2550C>T (p.Cys850=) n.290-323C>T c.*559C>T (n.*559C>T) c.*1026C>T (n.*1026C>T) c.1029C>T (p.Cys343=) c.1254C>T (p.Cys418=) c.1185C>T (p.Cys395=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850388G>C | CA381492722 | PC | c.2550C>G (p.Cys850Trp) n.290-323C>G c.*559C>G (n.*559C>G) c.*1026C>G (n.*1026C>G) c.1029C>G (p.Cys343Trp) c.1254C>G (p.Cys418Trp) c.1185C>G (p.Cys395Trp) | |
| 11 | g.66850388G= | CA1979879524 | PC | c.2550C= (p.Cys850=) n.290-323C= c.*559C= (n.*559C=) c.*1026C= (n.*1026C=) c.1029C= (p.Cys343=) c.1254C= (p.Cys418=) c.1185C= (p.Cys395=) | |
| 11 | g.66850388G>T | CA381492723 | PC | c.2550C>A (p.Cys850Ter) n.290-323C>A c.*559C>A (n.*559C>A) c.*1026C>A (n.*1026C>A) c.1029C>A (p.Cys343Ter) c.1254C>A (p.Cys418Ter) c.1185C>A (p.Cys395Ter) | |
| 11 | g.66850389C>A | CA381492724 | PC | c.2549G>T (p.Cys850Phe) n.290-324G>T c.*558G>T (n.*558G>T) c.*1025G>T (n.*1025G>T) c.1028G>T (p.Cys343Phe) c.1253G>T (p.Cys418Phe) c.1184G>T (p.Cys395Phe) | |
| 11 | g.66850389C= | CA1979879528 | PC | c.2549G= (p.Cys850=) n.290-324G= c.*558G= (n.*558G=) c.*1025G= (n.*1025G=) c.1028G= (p.Cys343=) c.1253G= (p.Cys418=) c.1184G= (p.Cys395=) | |
| 11 | g.66850389C>G | CA381492725 | PC | c.2549G>C (p.Cys850Ser) n.290-324G>C c.*558G>C (n.*558G>C) c.*1025G>C (n.*1025G>C) c.1028G>C (p.Cys343Ser) c.1253G>C (p.Cys418Ser) c.1184G>C (p.Cys395Ser) | |
| 11 | g.66850389C>T | CA224122598 | PC | c.2549G>A (p.Cys850Tyr) n.290-324G>A c.*558G>A (n.*558G>A) c.*1025G>A (n.*1025G>A) c.1028G>A (p.Cys343Tyr) c.1253G>A (p.Cys418Tyr) c.1184G>A (p.Cys395Tyr) | ClinVar dbSNP |
| 11 | g.66850394_66850410del | CA2574890788 | PC | c.2533_2549del (p.Tyr845HisfsTer13) n.290-340_290-324del c.*542_*558del (n.*542_*558del) c.*1009_*1025del (n.*1009_*1025del) c.1012_1028del (p.Tyr338HisfsTer13) c.1237_1253del (p.Tyr413HisfsTer13) c.1168_1184del (p.Tyr390HisfsTer13) | |
| 11 | g.66850390A= | CA1979879533 | PC | c.2548T= (p.Cys850=) n.290-325T= c.*557T= (n.*557T=) c.*1024T= (n.*1024T=) c.1027T= (p.Cys343=) c.1252T= (p.Cys418=) c.1183T= (p.Cys395=) | |
| 11 | g.66850390A>C | CA6131037 | PC | c.2548T>G (p.Cys850Gly) n.290-325T>G c.*557T>G (n.*557T>G) c.*1024T>G (n.*1024T>G) c.1027T>G (p.Cys343Gly) c.1252T>G (p.Cys418Gly) c.1183T>G (p.Cys395Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850390A>G | CA381492727 | PC | c.2548T>C (p.Cys850Arg) n.290-325T>C c.*557T>C (n.*557T>C) c.*1024T>C (n.*1024T>C) c.1027T>C (p.Cys343Arg) c.1252T>C (p.Cys418Arg) c.1183T>C (p.Cys395Arg) | |
| 11 | g.66850390A>T | CA381492726 | PC | c.2548T>A (p.Cys850Ser) n.290-325T>A c.*557T>A (n.*557T>A) c.*1024T>A (n.*1024T>A) c.1027T>A (p.Cys343Ser) c.1252T>A (p.Cys418Ser) c.1183T>A (p.Cys395Ser) | |
| 11 | g.66850391G>A | CA475500792 | PC | c.2547C>T (p.Asp849=) n.290-326C>T c.*556C>T (n.*556C>T) c.*1023C>T (n.*1023C>T) c.1026C>T (p.Asp342=) c.1251C>T (p.Asp417=) c.1182C>T (p.Asp394=) | dbSNP |
| 11 | g.66850391G>C | CA381492728 | PC | c.2547C>G (p.Asp849Glu) n.290-326C>G c.*556C>G (n.*556C>G) c.*1023C>G (n.*1023C>G) c.1026C>G (p.Asp342Glu) c.1251C>G (p.Asp417Glu) c.1182C>G (p.Asp394Glu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.66850391G= | CA1979879537 | PC | c.2547C= (p.Asp849=) n.290-326C= c.*556C= (n.*556C=) c.*1023C= (n.*1023C=) c.1026C= (p.Asp342=) c.1251C= (p.Asp417=) c.1182C= (p.Asp394=) | |
| 11 | g.66850391G>T | CA381492729 | PC | c.2547C>A (p.Asp849Glu) n.290-326C>A c.*556C>A (n.*556C>A) c.*1023C>A (n.*1023C>A) c.1026C>A (p.Asp342Glu) c.1251C>A (p.Asp417Glu) c.1182C>A (p.Asp394Glu) | |
| 11 | g.66850392T>A | CA381492730 | PC | c.2546A>T (p.Asp849Val) n.290-327A>T c.*555A>T (n.*555A>T) c.*1022A>T (n.*1022A>T) c.1025A>T (p.Asp342Val) c.1250A>T (p.Asp417Val) c.1181A>T (p.Asp394Val) | |
| 11 | g.66850392T>C | CA381492731 | PC | c.2546A>G (p.Asp849Gly) n.290-327A>G c.*555A>G (n.*555A>G) c.*1022A>G (n.*1022A>G) c.1025A>G (p.Asp342Gly) c.1250A>G (p.Asp417Gly) c.1181A>G (p.Asp394Gly) | |
| 11 | g.66850392T>G | CA381492732 | PC | c.2546A>C (p.Asp849Ala) n.290-327A>C c.*555A>C (n.*555A>C) c.*1022A>C (n.*1022A>C) c.1025A>C (p.Asp342Ala) c.1250A>C (p.Asp417Ala) c.1181A>C (p.Asp394Ala) | |
| 11 | g.66850393C>A | CA381492733 | PC | c.2545G>T (p.Asp849Tyr) n.290-328G>T c.*554G>T (n.*554G>T) c.*1021G>T (n.*1021G>T) c.1024G>T (p.Asp342Tyr) c.1249G>T (p.Asp417Tyr) c.1180G>T (p.Asp394Tyr) | |
| 11 | g.66850393C= | CA1979879541 | PC | c.2545G= (p.Asp849=) n.290-328G= c.*554G= (n.*554G=) c.*1021G= (n.*1021G=) c.1024G= (p.Asp342=) c.1249G= (p.Asp417=) c.1180G= (p.Asp394=) | |
| 11 | g.66850393C>G | CA381492734 | PC | c.2545G>C (p.Asp849His) n.290-328G>C c.*554G>C (n.*554G>C) c.*1021G>C (n.*1021G>C) c.1024G>C (p.Asp342His) c.1249G>C (p.Asp417His) c.1180G>C (p.Asp394His) | gnomAD v4 |
| 11 | g.66850393C>T | CA381492735 | PC | c.2545G>A (p.Asp849Asn) n.290-328G>A c.*554G>A (n.*554G>A) c.*1021G>A (n.*1021G>A) c.1024G>A (p.Asp342Asn) c.1249G>A (p.Asp417Asn) c.1180G>A (p.Asp394Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.66850394G>A | CA475500793 | PC | c.2544C>T (p.Phe848=) n.290-329C>T c.*553C>T (n.*553C>T) c.*1020C>T (n.*1020C>T) c.1023C>T (p.Phe341=) c.1248C>T (p.Phe416=) c.1179C>T (p.Phe393=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66850394G>C | CA381492736 | PC | c.2544C>G (p.Phe848Leu) n.290-329C>G c.*553C>G (n.*553C>G) c.*1020C>G (n.*1020C>G) c.1023C>G (p.Phe341Leu) c.1248C>G (p.Phe416Leu) c.1179C>G (p.Phe393Leu) | ClinVar dbSNP |
| 11 | g.66850394G= | CA1979879543 | PC | c.2544C= (p.Phe848=) n.290-329C= c.*553C= (n.*553C=) c.*1020C= (n.*1020C=) c.1023C= (p.Phe341=) c.1248C= (p.Phe416=) c.1179C= (p.Phe393=) | |
| 11 | g.66850394G>T | CA381492737 | PC | c.2544C>A (p.Phe848Leu) n.290-329C>A c.*553C>A (n.*553C>A) c.*1020C>A (n.*1020C>A) c.1023C>A (p.Phe341Leu) c.1248C>A (p.Phe416Leu) c.1179C>A (p.Phe393Leu) | |
| 11 | g.66850395A>C | CA381492740 | PC | c.2543T>G (p.Phe848Cys) n.290-330T>G c.*552T>G (n.*552T>G) c.*1019T>G (n.*1019T>G) c.1022T>G (p.Phe341Cys) c.1247T>G (p.Phe416Cys) c.1178T>G (p.Phe393Cys) | |
| 11 | g.66850395A>G | CA381492739 | PC | c.2543T>C (p.Phe848Ser) n.290-330T>C c.*552T>C (n.*552T>C) c.*1019T>C (n.*1019T>C) c.1022T>C (p.Phe341Ser) c.1247T>C (p.Phe416Ser) c.1178T>C (p.Phe393Ser) | |
| 11 | g.66850395A>T | CA381492738 | PC | c.2543T>A (p.Phe848Tyr) n.290-330T>A c.*552T>A (n.*552T>A) c.*1019T>A (n.*1019T>A) c.1022T>A (p.Phe341Tyr) c.1247T>A (p.Phe416Tyr) c.1178T>A (p.Phe393Tyr) | |
| 11 | g.66850396A>C | CA381492741 | PC | c.2542T>G (p.Phe848Val) n.290-331T>G c.*551T>G (n.*551T>G) c.*1018T>G (n.*1018T>G) c.1021T>G (p.Phe341Val) c.1246T>G (p.Phe416Val) c.1177T>G (p.Phe393Val) | |
| 11 | g.66850396A>G | CA381492742 | PC | c.2542T>C (p.Phe848Leu) n.290-331T>C c.*551T>C (n.*551T>C) c.*1018T>C (n.*1018T>C) c.1021T>C (p.Phe341Leu) c.1246T>C (p.Phe416Leu) c.1177T>C (p.Phe393Leu) | |
| 11 | g.66850396A>T | CA381492743 | PC | c.2542T>A (p.Phe848Ile) n.290-331T>A c.*551T>A (n.*551T>A) c.*1018T>A (n.*1018T>A) c.1021T>A (p.Phe341Ile) c.1246T>A (p.Phe416Ile) c.1177T>A (p.Phe393Ile) | |
| 11 | g.66850397G>A | CA475500794 | PC | c.2541C>T (p.Ala847=) n.290-332C>T c.*550C>T (n.*550C>T) c.*1017C>T (n.*1017C>T) c.1020C>T (p.Ala340=) c.1245C>T (p.Ala415=) c.1176C>T (p.Ala392=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66850397G>C | CA475500795 | PC | c.2541C>G (p.Ala847=) n.290-332C>G c.*550C>G (n.*550C>G) c.*1017C>G (n.*1017C>G) c.1020C>G (p.Ala340=) c.1245C>G (p.Ala415=) c.1176C>G (p.Ala392=) | |
| 11 | g.66850397G= | CA1979879547 | PC | c.2541C= (p.Ala847=) n.290-332C= c.*550C= (n.*550C=) c.*1017C= (n.*1017C=) c.1020C= (p.Ala340=) c.1245C= (p.Ala415=) c.1176C= (p.Ala392=) | |
| 11 | g.66850397G>T | CA475500796 | PC | c.2541C>A (p.Ala847=) n.290-332C>A c.*550C>A (n.*550C>A) c.*1017C>A (n.*1017C>A) c.1020C>A (p.Ala340=) c.1245C>A (p.Ala415=) c.1176C>A (p.Ala392=) | gnomAD v4 |
| 11 | g.66850398G>A | CA341765 | PC | c.2540C>T (p.Ala847Val) n.290-333C>T c.*549C>T (n.*549C>T) c.*1016C>T (n.*1016C>T) c.1019C>T (p.Ala340Val) c.1244C>T (p.Ala415Val) c.1175C>T (p.Ala392Val) | dbSNP |
| 11 | g.66850398G>C | CA381492744 | PC | c.2540C>G (p.Ala847Gly) n.290-333C>G c.*549C>G (n.*549C>G) c.*1016C>G (n.*1016C>G) c.1019C>G (p.Ala340Gly) c.1244C>G (p.Ala415Gly) c.1175C>G (p.Ala392Gly) | |
| 11 | g.66850398G= | CA1979879554 | PC | c.2540C= (p.Ala847=) n.290-333C= c.*549C= (n.*549C=) c.*1016C= (n.*1016C=) c.1019C= (p.Ala340=) c.1244C= (p.Ala415=) c.1175C= (p.Ala392=) | |
| 11 | g.66850398G>T | CA381492745 | PC | c.2540C>A (p.Ala847Asp) n.290-333C>A c.*549C>A (n.*549C>A) c.*1016C>A (n.*1016C>A) c.1019C>A (p.Ala340Asp) c.1244C>A (p.Ala415Asp) c.1175C>A (p.Ala392Asp) | |
| 11 | g.66850399C>A | CA381492746 | PC | c.2539G>T (p.Ala847Ser) n.290-334G>T c.*548G>T (n.*548G>T) c.*1015G>T (n.*1015G>T) c.1018G>T (p.Ala340Ser) c.1243G>T (p.Ala415Ser) c.1174G>T (p.Ala392Ser) | |
| 11 | g.66850399C>G | CA381492747 | PC | c.2539G>C (p.Ala847Pro) n.290-334G>C c.*548G>C (n.*548G>C) c.*1015G>C (n.*1015G>C) c.1018G>C (p.Ala340Pro) c.1243G>C (p.Ala415Pro) c.1174G>C (p.Ala392Pro) | |
| 11 | g.66850399C>T | CA381492748 | PC | c.2539G>A (p.Ala847Thr) n.290-334G>A c.*548G>A (n.*548G>A) c.*1015G>A (n.*1015G>A) c.1018G>A (p.Ala340Thr) c.1243G>A (p.Ala415Thr) c.1174G>A (p.Ala392Thr) | |
| 11 | g.66850400C>A | CA475500797 | PC | c.2538G>T (p.Ala846=) n.290-335G>T c.*547G>T (n.*547G>T) c.*1014G>T (n.*1014G>T) c.1017G>T (p.Ala339=) c.1242G>T (p.Ala414=) c.1173G>T (p.Ala391=) | |
| 11 | g.66850400C= | CA1979879559 | PC | c.2538G= (p.Ala846=) n.290-335G= c.*547G= (n.*547G=) c.*1014G= (n.*1014G=) c.1017G= (p.Ala339=) c.1242G= (p.Ala414=) c.1173G= (p.Ala391=) | |
| 11 | g.66850400C>G | CA475500798 | PC | c.2538G>C (p.Ala846=) n.290-335G>C c.*547G>C (n.*547G>C) c.*1014G>C (n.*1014G>C) c.1017G>C (p.Ala339=) c.1242G>C (p.Ala414=) c.1173G>C (p.Ala391=) | |
| 11 | g.66850400C>T | CA6131038 | PC | c.2538G>A (p.Ala846=) n.290-335G>A c.*547G>A (n.*547G>A) c.*1014G>A (n.*1014G>A) c.1017G>A (p.Ala339=) c.1242G>A (p.Ala414=) c.1173G>A (p.Ala391=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.66850401G>A | CA381492749 | PC | c.2537C>T (p.Ala846Val) n.290-336C>T c.*546C>T (n.*546C>T) c.*1013C>T (n.*1013C>T) c.1016C>T (p.Ala339Val) c.1241C>T (p.Ala414Val) c.1172C>T (p.Ala391Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.66850401G>C | CA381492750 | PC | c.2537C>G (p.Ala846Gly) n.290-336C>G c.*546C>G (n.*546C>G) c.*1013C>G (n.*1013C>G) c.1016C>G (p.Ala339Gly) c.1241C>G (p.Ala414Gly) c.1172C>G (p.Ala391Gly) | |
| 11 | g.66850401G= | CA1979879562 | PC | c.2537C= (p.Ala846=) n.290-336C= c.*546C= (n.*546C=) c.*1013C= (n.*1013C=) c.1016C= (p.Ala339=) c.1241C= (p.Ala414=) c.1172C= (p.Ala391=) | |
| 11 | g.66850401G>T | CA381492751 | PC | c.2537C>A (p.Ala846Glu) n.290-336C>A c.*546C>A (n.*546C>A) c.*1013C>A (n.*1013C>A) c.1016C>A (p.Ala339Glu) c.1241C>A (p.Ala414Glu) c.1172C>A (p.Ala391Glu) | |
| 11 | g.66850402C>A | CA381492753 | PC | c.2536G>T (p.Ala846Ser) n.290-337G>T c.*545G>T (n.*545G>T) c.*1012G>T (n.*1012G>T) c.1015G>T (p.Ala339Ser) c.1240G>T (p.Ala414Ser) c.1171G>T (p.Ala391Ser) | dbSNP |
| 11 | g.66850402C= | CA1979879567 | PC | c.2536G= (p.Ala846=) n.290-337G= c.*545G= (n.*545G=) c.*1012G= (n.*1012G=) c.1015G= (p.Ala339=) c.1240G= (p.Ala414=) c.1171G= (p.Ala391=) | |
| 11 | g.66850402C>G | CA381492752 | PC | c.2536G>C (p.Ala846Pro) n.290-337G>C c.*545G>C (n.*545G>C) c.*1012G>C (n.*1012G>C) c.1015G>C (p.Ala339Pro) c.1240G>C (p.Ala414Pro) c.1171G>C (p.Ala391Pro) | |
| 11 | g.66850402C>T | CA6131039 | PC | c.2536G>A (p.Ala846Thr) n.290-337G>A c.*545G>A (n.*545G>A) c.*1012G>A (n.*1012G>A) c.1015G>A (p.Ala339Thr) c.1240G>A (p.Ala414Thr) c.1171G>A (p.Ala391Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.66850403G>A | CA6131040 | PC | c.2535C>T (p.Tyr845=) n.290-338C>T c.*544C>T (n.*544C>T) c.*1011C>T (n.*1011C>T) c.1014C>T (p.Tyr338=) c.1239C>T (p.Tyr413=) c.1170C>T (p.Tyr390=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.66850403G>C | CA381492754 | PC | c.2535C>G (p.Tyr845Ter) n.290-338C>G c.*544C>G (n.*544C>G) c.*1011C>G (n.*1011C>G) c.1014C>G (p.Tyr338Ter) c.1239C>G (p.Tyr413Ter) c.1170C>G (p.Tyr390Ter) | |
| 11 | g.66850403G= | CA1979879570 | PC | c.2535C= (p.Tyr845=) n.290-338C= c.*544C= (n.*544C=) c.*1011C= (n.*1011C=) c.1014C= (p.Tyr338=) c.1239C= (p.Tyr413=) c.1170C= (p.Tyr390=) | |
| 11 | g.66850403G>T | CA381492755 | PC | c.2535C>A (p.Tyr845Ter) n.290-338C>A c.*544C>A (n.*544C>A) c.*1011C>A (n.*1011C>A) c.1014C>A (p.Tyr338Ter) c.1239C>A (p.Tyr413Ter) c.1170C>A (p.Tyr390Ter) | ClinVar |
| 11 | g.66850404T>A | CA381492756 | PC | c.2534A>T (p.Tyr845Phe) n.290-339A>T c.*543A>T (n.*543A>T) c.*1010A>T (n.*1010A>T) c.1013A>T (p.Tyr338Phe) c.1238A>T (p.Tyr413Phe) c.1169A>T (p.Tyr390Phe) | |
| 11 | g.66850404T>C | CA381492757 | PC | c.2534A>G (p.Tyr845Cys) n.290-339A>G c.*543A>G (n.*543A>G) c.*1010A>G (n.*1010A>G) c.1013A>G (p.Tyr338Cys) c.1238A>G (p.Tyr413Cys) c.1169A>G (p.Tyr390Cys) | |
| 11 | g.66850404T>G | CA381492758 | PC | c.2534A>C (p.Tyr845Ser) n.290-339A>C c.*543A>C (n.*543A>C) c.*1010A>C (n.*1010A>C) c.1013A>C (p.Tyr338Ser) c.1238A>C (p.Tyr413Ser) c.1169A>C (p.Tyr390Ser) | |
| 11 | g.66850405A>C | CA381492759 | PC | c.2533T>G (p.Tyr845Asp) n.290-340T>G c.*542T>G (n.*542T>G) c.*1009T>G (n.*1009T>G) c.1012T>G (p.Tyr338Asp) c.1237T>G (p.Tyr413Asp) c.1168T>G (p.Tyr390Asp) | |
| 11 | g.66850405A>G | CA381492760 | PC | c.2533T>C (p.Tyr845His) n.290-340T>C c.*542T>C (n.*542T>C) c.*1009T>C (n.*1009T>C) c.1012T>C (p.Tyr338His) c.1237T>C (p.Tyr413His) c.1168T>C (p.Tyr390His) | |
| 11 | g.66850405A>T | CA381492761 | PC | c.2533T>A (p.Tyr845Asn) n.290-340T>A c.*542T>A (n.*542T>A) c.*1009T>A (n.*1009T>A) c.1012T>A (p.Tyr338Asn) c.1237T>A (p.Tyr413Asn) c.1168T>A (p.Tyr390Asn) | |
| 11 | g.66850406_66850407del | CA2695198918 | PC | c.2532_2533del (p.Tyr845ArgfsTer18) n.290-341_290-340del c.*541_*542del (n.*541_*542del) c.*1008_*1009del (n.*1008_*1009del) c.1011_1012del (p.Tyr338ArgfsTer18) c.1236_1237del (p.Tyr413ArgfsTer18) c.1167_1168del (p.Tyr390ArgfsTer18) | ClinVar |
| 11 | g.66850406C>A | CA475500799 | PC | c.2532G>T (p.Leu844=) n.290-341G>T c.*541G>T (n.*541G>T) c.*1008G>T (n.*1008G>T) c.1011G>T (p.Leu337=) c.1236G>T (p.Leu412=) c.1167G>T (p.Leu389=) | |
| 11 | g.66850406C= | CA1979879575 | PC | c.2532G= (p.Leu844=) n.290-341G= c.*541G= (n.*541G=) c.*1008G= (n.*1008G=) c.1011G= (p.Leu337=) c.1236G= (p.Leu412=) c.1167G= (p.Leu389=) | |
| 11 | g.66850406C>G | CA475500800 | PC | c.2532G>C (p.Leu844=) n.290-341G>C c.*541G>C (n.*541G>C) c.*1008G>C (n.*1008G>C) c.1011G>C (p.Leu337=) c.1236G>C (p.Leu412=) c.1167G>C (p.Leu389=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850406C>T | CA475500801 | PC | c.2532G>A (p.Leu844=) n.290-341G>A c.*541G>A (n.*541G>A) c.*1008G>A (n.*1008G>A) c.1011G>A (p.Leu337=) c.1236G>A (p.Leu412=) c.1167G>A (p.Leu389=) | ClinVar dbSNP |
| 11 | g.66850410_66850428dup | CA2741181896 | PC | c.2514_2532dup (p.Tyr845GlyfsTer25) n.290-359_290-341dup c.*523_*541dup (n.*523_*541dup) c.*990_*1008dup (n.*990_*1008dup) c.993_1011dup (p.Tyr338GlyfsTer25) c.1218_1236dup (p.Tyr413GlyfsTer25) c.1149_1167dup (p.Tyr390GlyfsTer25) | |
| 11 | g.66850407A= | CA1979879581 | PC | c.2531T= (p.Leu844=) n.290-342T= c.*540T= (n.*540T=) c.*1007T= (n.*1007T=) c.1010T= (p.Leu337=) c.1235T= (p.Leu412=) c.1166T= (p.Leu389=) | |
| 11 | g.66850407A>C | CA381492762 | PC | c.2531T>G (p.Leu844Arg) n.290-342T>G c.*540T>G (n.*540T>G) c.*1007T>G (n.*1007T>G) c.1010T>G (p.Leu337Arg) c.1235T>G (p.Leu412Arg) c.1166T>G (p.Leu389Arg) | dbSNP |
| 11 | g.66850407A>G | CA381492763 | PC | c.2531T>C (p.Leu844Pro) n.290-342T>C c.*540T>C (n.*540T>C) c.*1007T>C (n.*1007T>C) c.1010T>C (p.Leu337Pro) c.1235T>C (p.Leu412Pro) c.1166T>C (p.Leu389Pro) | |
| 11 | g.66850407A>T | CA381492764 | PC | c.2531T>A (p.Leu844Gln) n.290-342T>A c.*540T>A (n.*540T>A) c.*1007T>A (n.*1007T>A) c.1010T>A (p.Leu337Gln) c.1235T>A (p.Leu412Gln) c.1166T>A (p.Leu389Gln) | |
| 11 | g.66850407_66850427dup | CA2580084575 | PC | c.2511_2531dup (p.Leu844_Tyr845insTrpGluGlyAlaArgGlyLeu) n.290-362_290-342dup c.*520_*540dup (n.*520_*540dup) c.*987_*1007dup (n.*987_*1007dup) c.990_1010dup (p.Leu337_Tyr338insTrpGluGlyAlaArgGlyLeu) c.1215_1235dup (p.Leu412_Tyr413insTrpGluGlyAlaArgGlyLeu) c.1146_1166dup (p.Leu389_Tyr390insTrpGluGlyAlaArgGlyLeu) | ClinVar |
| 11 | g.66850408G>A | CA475500802 | PC | c.2530C>T (p.Leu844=) n.290-343C>T c.*539C>T (n.*539C>T) c.*1006C>T (n.*1006C>T) c.1009C>T (p.Leu337=) c.1234C>T (p.Leu412=) c.1165C>T (p.Leu389=) | |
| 11 | g.66850408G>C | CA381492765 | PC | c.2530C>G (p.Leu844Val) n.290-343C>G c.*539C>G (n.*539C>G) c.*1006C>G (n.*1006C>G) c.1009C>G (p.Leu337Val) c.1234C>G (p.Leu412Val) c.1165C>G (p.Leu389Val) | |
| 11 | g.66850408G>T | CA381492766 | PC | c.2530C>A (p.Leu844Met) n.290-343C>A c.*539C>A (n.*539C>A) c.*1006C>A (n.*1006C>A) c.1009C>A (p.Leu337Met) c.1234C>A (p.Leu412Met) c.1165C>A (p.Leu389Met) | |
| 11 | g.66850409T>A | CA475500803 | PC | c.2529A>T (p.Gly843=) n.290-344A>T c.*538A>T (n.*538A>T) c.*1005A>T (n.*1005A>T) c.1008A>T (p.Gly336=) c.1233A>T (p.Gly411=) c.1164A>T (p.Gly388=) | |
| 11 | g.66850409T>C | CA475500804 | PC | c.2529A>G (p.Gly843=) n.290-344A>G c.*538A>G (n.*538A>G) c.*1005A>G (n.*1005A>G) c.1008A>G (p.Gly336=) c.1233A>G (p.Gly411=) c.1164A>G (p.Gly388=) | |
| 11 | g.66850409T>G | CA475500805 | PC | c.2529A>C (p.Gly843=) n.290-344A>C c.*538A>C (n.*538A>C) c.*1005A>C (n.*1005A>C) c.1008A>C (p.Gly336=) c.1233A>C (p.Gly411=) c.1164A>C (p.Gly388=) | |
| 11 | g.66850410C>A | CA381492768 | PC | c.2528G>T (p.Gly843Val) n.290-345G>T c.*537G>T (n.*537G>T) c.*1004G>T (n.*1004G>T) c.1007G>T (p.Gly336Val) c.1232G>T (p.Gly411Val) c.1163G>T (p.Gly388Val) | |
| 11 | g.66850410C>G | CA381492769 | PC | c.2528G>C (p.Gly843Ala) n.290-345G>C c.*537G>C (n.*537G>C) c.*1004G>C (n.*1004G>C) c.1007G>C (p.Gly336Ala) c.1232G>C (p.Gly411Ala) c.1163G>C (p.Gly388Ala) | |
| 11 | g.66850410C>T | CA381492767 | PC | c.2528G>A (p.Gly843Glu) n.290-345G>A c.*537G>A (n.*537G>A) c.*1004G>A (n.*1004G>A) c.1007G>A (p.Gly336Glu) c.1232G>A (p.Gly411Glu) c.1163G>A (p.Gly388Glu) | |
| 11 | g.66850413del | CA2724515580 | PC | c.2528del (p.Gly843AspfsTer12) n.290-345del c.*537del (n.*537del) c.*1004del (n.*1004del) c.1007del (p.Gly336AspfsTer12) c.1232del (p.Gly411AspfsTer12) c.1163del (p.Gly388AspfsTer12) | dbSNP |
| 11 | g.66850411C>A | CA381492770 | PC | c.2527G>T (p.Gly843Ter) n.290-346G>T c.*536G>T (n.*536G>T) c.*1003G>T (n.*1003G>T) c.1006G>T (p.Gly336Ter) c.1231G>T (p.Gly411Ter) c.1162G>T (p.Gly388Ter) | |
| 11 | g.66850411C>G | CA381492771 | PC | c.2527G>C (p.Gly843Arg) n.290-346G>C c.*536G>C (n.*536G>C) c.*1003G>C (n.*1003G>C) c.1006G>C (p.Gly336Arg) c.1231G>C (p.Gly411Arg) c.1162G>C (p.Gly388Arg) | |
| 11 | g.66850411C>T | CA381492772 | PC | c.2527G>A (p.Gly843Arg) n.290-346G>A c.*536G>A (n.*536G>A) c.*1003G>A (n.*1003G>A) c.1006G>A (p.Gly336Arg) c.1231G>A (p.Gly411Arg) c.1162G>A (p.Gly388Arg) | COSMIC |
| 11 | g.66850412C>A | CA475500807 | PC | c.2526G>T (p.Arg842=) n.290-347G>T c.*535G>T (n.*535G>T) c.*1002G>T (n.*1002G>T) c.1005G>T (p.Arg335=) c.1230G>T (p.Arg410=) c.1161G>T (p.Arg387=) | |
| 11 | g.66850412C>G | CA475500808 | PC | c.2526G>C (p.Arg842=) n.290-347G>C c.*535G>C (n.*535G>C) c.*1002G>C (n.*1002G>C) c.1005G>C (p.Arg335=) c.1230G>C (p.Arg410=) c.1161G>C (p.Arg387=) | |
| 11 | g.66850412C>T | CA475500806 | PC | c.2526G>A (p.Arg842=) n.290-347G>A c.*535G>A (n.*535G>A) c.*1002G>A (n.*1002G>A) c.1005G>A (p.Arg335=) c.1230G>A (p.Arg410=) c.1161G>A (p.Arg387=) | |
| 11 | g.66850413C>A | CA381492773 | PC | c.2525G>T (p.Arg842Leu) n.290-348G>T c.*534G>T (n.*534G>T) c.*1001G>T (n.*1001G>T) c.1004G>T (p.Arg335Leu) c.1229G>T (p.Arg410Leu) c.1160G>T (p.Arg387Leu) | |
| 11 | g.66850413C= | CA1979879587 | PC | c.2525G= (p.Arg842=) n.290-348G= c.*534G= (n.*534G=) c.*1001G= (n.*1001G=) c.1004G= (p.Arg335=) c.1229G= (p.Arg410=) c.1160G= (p.Arg387=) | |
| 11 | g.66850413C>G | CA381492774 | PC | c.2525G>C (p.Arg842Pro) n.290-348G>C c.*534G>C (n.*534G>C) c.*1001G>C (n.*1001G>C) c.1004G>C (p.Arg335Pro) c.1229G>C (p.Arg410Pro) c.1160G>C (p.Arg387Pro) | |
| 11 | g.66850413C>T | CA312902 | PC | c.2525G>A (p.Arg842Gln) n.290-348G>A c.*534G>A (n.*534G>A) c.*1001G>A (n.*1001G>A) c.1004G>A (p.Arg335Gln) c.1229G>A (p.Arg410Gln) c.1160G>A (p.Arg387Gln) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.66850414G>A | CA6131041 | PC | c.2524C>T (p.Arg842Trp) n.290-349C>T c.*533C>T (n.*533C>T) c.*1000C>T (n.*1000C>T) c.1003C>T (p.Arg335Trp) c.1228C>T (p.Arg410Trp) c.1159C>T (p.Arg387Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.66850414G>C | CA381492775 | PC | c.2524C>G (p.Arg842Gly) n.290-349C>G c.*533C>G (n.*533C>G) c.*1000C>G (n.*1000C>G) c.1003C>G (p.Arg335Gly) c.1228C>G (p.Arg410Gly) c.1159C>G (p.Arg387Gly) | |
| 11 | g.66850414G= | CA1979879590 | PC | c.2524C= (p.Arg842=) n.290-349C= c.*533C= (n.*533C=) c.*1000C= (n.*1000C=) c.1003C= (p.Arg335=) c.1228C= (p.Arg410=) c.1159C= (p.Arg387=) | |
| 11 | g.66850414G>T | CA475500809 | PC | c.2524C>A (p.Arg842=) n.290-349C>A c.*533C>A (n.*533C>A) c.*1000C>A (n.*1000C>A) c.1003C>A (p.Arg335=) c.1228C>A (p.Arg410=) c.1159C>A (p.Arg387=) | |
| 11 | g.66850415A= | CA1979879596 | PC | c.2523T= (p.Ala841=) n.290-350T= c.*532T= (n.*532T=) c.*999T= (n.*999T=) c.1002T= (p.Ala334=) c.1227T= (p.Ala409=) c.1158T= (p.Ala386=) | |
| 11 | g.66850415A>C | CA475500811 | PC | c.2523T>G (p.Ala841=) n.290-350T>G c.*532T>G (n.*532T>G) c.*999T>G (n.*999T>G) c.1002T>G (p.Ala334=) c.1227T>G (p.Ala409=) c.1158T>G (p.Ala386=) | |
| 11 | g.66850415A>G | CA6131042 | PC | c.2523T>C (p.Ala841=) n.290-350T>C c.*532T>C (n.*532T>C) c.*999T>C (n.*999T>C) c.1002T>C (p.Ala334=) c.1227T>C (p.Ala409=) c.1158T>C (p.Ala386=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66850415A>T | CA475500810 | PC | c.2523T>A (p.Ala841=) n.290-350T>A c.*532T>A (n.*532T>A) c.*999T>A (n.*999T>A) c.1002T>A (p.Ala334=) c.1227T>A (p.Ala409=) c.1158T>A (p.Ala386=) | |
| 11 | g.66850416G>A | CA381492776 | PC | c.2522C>T (p.Ala841Val) n.290-351C>T c.*531C>T (n.*531C>T) c.*998C>T (n.*998C>T) c.1001C>T (p.Ala334Val) c.1226C>T (p.Ala409Val) c.1157C>T (p.Ala386Val) | |
| 11 | g.66850416G>C | CA381492777 | PC | c.2522C>G (p.Ala841Gly) n.290-351C>G c.*531C>G (n.*531C>G) c.*998C>G (n.*998C>G) c.1001C>G (p.Ala334Gly) c.1226C>G (p.Ala409Gly) c.1157C>G (p.Ala386Gly) | |
| 11 | g.66850416G>T | CA381492778 | PC | c.2522C>A (p.Ala841Asp) n.290-351C>A c.*531C>A (n.*531C>A) c.*998C>A (n.*998C>A) c.1001C>A (p.Ala334Asp) c.1226C>A (p.Ala409Asp) c.1157C>A (p.Ala386Asp) | |
| 11 | g.66850417C>A | CA381492780 | PC | c.2521G>T (p.Ala841Ser) n.290-352G>T c.*530G>T (n.*530G>T) c.*997G>T (n.*997G>T) c.1000G>T (p.Ala334Ser) c.1225G>T (p.Ala409Ser) c.1156G>T (p.Ala386Ser) | dbSNP |
| 11 | g.66850417C= | CA1979879600 | PC | c.2521G= (p.Ala841=) n.290-352G= c.*530G= (n.*530G=) c.*997G= (n.*997G=) c.1000G= (p.Ala334=) c.1225G= (p.Ala409=) c.1156G= (p.Ala386=) | |
| 11 | g.66850417C>G | CA381492779 | PC | c.2521G>C (p.Ala841Pro) n.290-352G>C c.*530G>C (n.*530G>C) c.*997G>C (n.*997G>C) c.1000G>C (p.Ala334Pro) c.1225G>C (p.Ala409Pro) c.1156G>C (p.Ala386Pro) | |
| 11 | g.66850417C>T | CA224122613 | PC | c.2521G>A (p.Ala841Thr) n.290-352G>A c.*530G>A (n.*530G>A) c.*997G>A (n.*997G>A) c.1000G>A (p.Ala334Thr) c.1225G>A (p.Ala409Thr) c.1156G>A (p.Ala386Thr) | dbSNP gnomAD v4 |
| 11 | g.66850418C>A | CA475500814 | PC | c.2520G>T (p.Gly840=) n.290-353G>T c.*529G>T (n.*529G>T) c.*996G>T (n.*996G>T) c.999G>T (p.Gly333=) c.1224G>T (p.Gly408=) c.1155G>T (p.Gly385=) | gnomAD v4 |
| 11 | g.66850418C>G | CA475500812 | PC | c.2520G>C (p.Gly840=) n.290-353G>C c.*529G>C (n.*529G>C) c.*996G>C (n.*996G>C) c.999G>C (p.Gly333=) c.1224G>C (p.Gly408=) c.1155G>C (p.Gly385=) | |
| 11 | g.66850418C>T | CA475500813 | PC | c.2520G>A (p.Gly840=) n.290-353G>A c.*529G>A (n.*529G>A) c.*996G>A (n.*996G>A) c.999G>A (p.Gly333=) c.1224G>A (p.Gly408=) c.1155G>A (p.Gly385=) | |
| 11 | g.66850419C>A | CA381492781 | PC | c.2519G>T (p.Gly840Val) n.290-354G>T c.*528G>T (n.*528G>T) c.*995G>T (n.*995G>T) c.998G>T (p.Gly333Val) c.1223G>T (p.Gly408Val) c.1154G>T (p.Gly385Val) | |
| 11 | g.66850419C>G | CA381492782 | PC | c.2519G>C (p.Gly840Ala) n.290-354G>C c.*528G>C (n.*528G>C) c.*995G>C (n.*995G>C) c.998G>C (p.Gly333Ala) c.1223G>C (p.Gly408Ala) c.1154G>C (p.Gly385Ala) | |
| 11 | g.66850419C>T | CA381492783 | PC | c.2519G>A (p.Gly840Glu) n.290-354G>A c.*528G>A (n.*528G>A) c.*995G>A (n.*995G>A) c.998G>A (p.Gly333Glu) c.1223G>A (p.Gly408Glu) c.1154G>A (p.Gly385Glu) | |
| 11 | g.66850420C>A | CA381492784 | PC | c.2518G>T (p.Gly840Trp) n.290-355G>T c.*527G>T (n.*527G>T) c.*994G>T (n.*994G>T) c.997G>T (p.Gly333Trp) c.1222G>T (p.Gly408Trp) c.1153G>T (p.Gly385Trp) | |
| 11 | g.66850420C>G | CA381492785 | PC | c.2518G>C (p.Gly840Arg) n.290-355G>C c.*527G>C (n.*527G>C) c.*994G>C (n.*994G>C) c.997G>C (p.Gly333Arg) c.1222G>C (p.Gly408Arg) c.1153G>C (p.Gly385Arg) | |
| 11 | g.66850420C>T | CA381492786 | PC | c.2518G>A (p.Gly840Arg) n.290-355G>A c.*527G>A (n.*527G>A) c.*994G>A (n.*994G>A) c.997G>A (p.Gly333Arg) c.1222G>A (p.Gly408Arg) c.1153G>A (p.Gly385Arg) | |
| 11 | g.66850421C>A | CA381492787 | PC | c.2517G>T (p.Glu839Asp) n.290-356G>T c.*526G>T (n.*526G>T) c.*993G>T (n.*993G>T) c.996G>T (p.Glu332Asp) c.1221G>T (p.Glu407Asp) c.1152G>T (p.Glu384Asp) | |
| 11 | g.66850421C>G | CA381492788 | PC | c.2517G>C (p.Glu839Asp) n.290-356G>C c.*526G>C (n.*526G>C) c.*993G>C (n.*993G>C) c.996G>C (p.Glu332Asp) c.1221G>C (p.Glu407Asp) c.1152G>C (p.Glu384Asp) | |
| 11 | g.66850421C>T | CA475500815 | PC | c.2517G>A (p.Glu839=) n.290-356G>A c.*526G>A (n.*526G>A) c.*993G>A (n.*993G>A) c.996G>A (p.Glu332=) c.1221G>A (p.Glu407=) c.1152G>A (p.Glu384=) | gnomAD v4 |
| 11 | g.66850422T>A | CA381492789 | PC | c.2516A>T (p.Glu839Val) n.290-357A>T c.*525A>T (n.*525A>T) c.*992A>T (n.*992A>T) c.995A>T (p.Glu332Val) c.1220A>T (p.Glu407Val) c.1151A>T (p.Glu384Val) | |
| 11 | g.66850422T>C | CA381492790 | PC | c.2516A>G (p.Glu839Gly) n.290-357A>G c.*525A>G (n.*525A>G) c.*992A>G (n.*992A>G) c.995A>G (p.Glu332Gly) c.1220A>G (p.Glu407Gly) c.1151A>G (p.Glu384Gly) | |
| 11 | g.66850422T>G | CA381492791 | PC | c.2516A>C (p.Glu839Ala) n.290-357A>C c.*525A>C (n.*525A>C) c.*992A>C (n.*992A>C) c.995A>C (p.Glu332Ala) c.1220A>C (p.Glu407Ala) c.1151A>C (p.Glu384Ala) | |
| 11 | g.66850423C>A | CA381492794 | PC | c.2515G>T (p.Glu839Ter) n.290-358G>T c.*524G>T (n.*524G>T) c.*991G>T (n.*991G>T) c.994G>T (p.Glu332Ter) c.1219G>T (p.Glu407Ter) c.1150G>T (p.Glu384Ter) | |
| 11 | g.66850423C>G | CA381492793 | PC | c.2515G>C (p.Glu839Gln) n.290-358G>C c.*524G>C (n.*524G>C) c.*991G>C (n.*991G>C) c.994G>C (p.Glu332Gln) c.1219G>C (p.Glu407Gln) c.1150G>C (p.Glu384Gln) | |
| 11 | g.66850423C>T | CA381492792 | PC | c.2515G>A (p.Glu839Lys) n.290-358G>A c.*524G>A (n.*524G>A) c.*991G>A (n.*991G>A) c.994G>A (p.Glu332Lys) c.1219G>A (p.Glu407Lys) c.1150G>A (p.Glu384Lys) | |
| 11 | g.66850424C>A | CA381492795 | PC | c.2514G>T (p.Trp838Cys) n.290-359G>T c.*523G>T (n.*523G>T) c.*990G>T (n.*990G>T) c.993G>T (p.Trp331Cys) c.1218G>T (p.Trp406Cys) c.1149G>T (p.Trp383Cys) | |
| 11 | g.66850424C>G | CA381492797 | PC | c.2514G>C (p.Trp838Cys) n.290-359G>C c.*523G>C (n.*523G>C) c.*990G>C (n.*990G>C) c.993G>C (p.Trp331Cys) c.1218G>C (p.Trp406Cys) c.1149G>C (p.Trp383Cys) | |
| 11 | g.66850424C>T | CA381492796 | PC | c.2514G>A (p.Trp838Ter) n.290-359G>A c.*523G>A (n.*523G>A) c.*990G>A (n.*990G>A) c.993G>A (p.Trp331Ter) c.1218G>A (p.Trp406Ter) c.1149G>A (p.Trp383Ter) | |
| 11 | g.66850425C>A | CA381492798 | PC | c.2513G>T (p.Trp838Leu) n.290-360G>T c.*522G>T (n.*522G>T) c.*989G>T (n.*989G>T) c.992G>T (p.Trp331Leu) c.1217G>T (p.Trp406Leu) c.1148G>T (p.Trp383Leu) | |
| 11 | g.66850425C>G | CA381492800 | PC | c.2513G>C (p.Trp838Ser) n.290-360G>C c.*522G>C (n.*522G>C) c.*989G>C (n.*989G>C) c.992G>C (p.Trp331Ser) c.1217G>C (p.Trp406Ser) c.1148G>C (p.Trp383Ser) | |
| 11 | g.66850425C>T | CA381492799 | PC | c.2513G>A (p.Trp838Ter) n.290-360G>A c.*522G>A (n.*522G>A) c.*989G>A (n.*989G>A) c.992G>A (p.Trp331Ter) c.1217G>A (p.Trp406Ter) c.1148G>A (p.Trp383Ter) | |
| 11 | g.66850426A>C | CA381492801 | PC | c.2512T>G (p.Trp838Gly) n.290-361T>G c.*521T>G (n.*521T>G) c.*988T>G (n.*988T>G) c.991T>G (p.Trp331Gly) c.1216T>G (p.Trp406Gly) c.1147T>G (p.Trp383Gly) | |
| 11 | g.66850426A>G | CA381492803 | PC | c.2512T>C (p.Trp838Arg) n.290-361T>C c.*521T>C (n.*521T>C) c.*988T>C (n.*988T>C) c.991T>C (p.Trp331Arg) c.1216T>C (p.Trp406Arg) c.1147T>C (p.Trp383Arg) | |
| 11 | g.66850426A>T | CA381492802 | PC | c.2512T>A (p.Trp838Arg) n.290-361T>A c.*521T>A (n.*521T>A) c.*988T>A (n.*988T>A) c.991T>A (p.Trp331Arg) c.1216T>A (p.Trp406Arg) c.1147T>A (p.Trp383Arg) | |
| 11 | g.66850427G>A | CA475500816 | PC | c.2511C>T (p.Tyr837=) n.290-362C>T c.*520C>T (n.*520C>T) c.*987C>T (n.*987C>T) c.990C>T (p.Tyr330=) c.1215C>T (p.Tyr405=) c.1146C>T (p.Tyr382=) | |
| 11 | g.66850427G>C | CA381492804 | PC | c.2511C>G (p.Tyr837Ter) n.290-362C>G c.*520C>G (n.*520C>G) c.*987C>G (n.*987C>G) c.990C>G (p.Tyr330Ter) c.1215C>G (p.Tyr405Ter) c.1146C>G (p.Tyr382Ter) | |
| 11 | g.66850427G>T | CA381492805 | PC | c.2511C>A (p.Tyr837Ter) n.290-362C>A c.*520C>A (n.*520C>A) c.*987C>A (n.*987C>A) c.990C>A (p.Tyr330Ter) c.1215C>A (p.Tyr405Ter) c.1146C>A (p.Tyr382Ter) | |
| 11 | g.66850428T>A | CA381492806 | PC | c.2510A>T (p.Tyr837Phe) n.290-363A>T c.*519A>T (n.*519A>T) c.*986A>T (n.*986A>T) c.989A>T (p.Tyr330Phe) c.1214A>T (p.Tyr405Phe) c.1145A>T (p.Tyr382Phe) | |
| 11 | g.66850428T>C | CA381492807 | PC | c.2510A>G (p.Tyr837Cys) n.290-363A>G c.*519A>G (n.*519A>G) c.*986A>G (n.*986A>G) c.989A>G (p.Tyr330Cys) c.1214A>G (p.Tyr405Cys) c.1145A>G (p.Tyr382Cys) | |
| 11 | g.66850428T>G | CA381492808 | PC | c.2510A>C (p.Tyr837Ser) n.290-363A>C c.*519A>C (n.*519A>C) c.*986A>C (n.*986A>C) c.989A>C (p.Tyr330Ser) c.1214A>C (p.Tyr405Ser) c.1145A>C (p.Tyr382Ser) | |
| 11 | g.66850429A>C | CA381492809 | PC | c.2509T>G (p.Tyr837Asp) n.290-364T>G c.*518T>G (n.*518T>G) c.*985T>G (n.*985T>G) c.988T>G (p.Tyr330Asp) c.1213T>G (p.Tyr405Asp) c.1144T>G (p.Tyr382Asp) | |
| 11 | g.66850429A>G | CA381492810 | PC | c.2509T>C (p.Tyr837His) n.290-364T>C c.*518T>C (n.*518T>C) c.*985T>C (n.*985T>C) c.988T>C (p.Tyr330His) c.1213T>C (p.Tyr405His) c.1144T>C (p.Tyr382His) | |
| 11 | g.66850429A>T | CA381492811 | PC | c.2509T>A (p.Tyr837Asn) n.290-364T>A c.*518T>A (n.*518T>A) c.*985T>A (n.*985T>A) c.988T>A (p.Tyr330Asn) c.1213T>A (p.Tyr405Asn) c.1144T>A (p.Tyr382Asn) | |
| 11 | g.66850430C>A | CA381492812 | PC | c.2508G>T (p.Glu836Asp) n.290-365G>T c.*517G>T (n.*517G>T) c.*984G>T (n.*984G>T) c.987G>T (p.Glu329Asp) c.1212G>T (p.Glu404Asp) c.1143G>T (p.Glu381Asp) | |
| 11 | g.66850430C>G | CA381492813 | PC | c.2508G>C (p.Glu836Asp) n.290-365G>C c.*517G>C (n.*517G>C) c.*984G>C (n.*984G>C) c.987G>C (p.Glu329Asp) c.1212G>C (p.Glu404Asp) c.1143G>C (p.Glu381Asp) | |
| 11 | g.66850430C>T | CA475500817 | PC | c.2508G>A (p.Glu836=) n.290-365G>A c.*517G>A (n.*517G>A) c.*984G>A (n.*984G>A) c.987G>A (p.Glu329=) c.1212G>A (p.Glu404=) c.1143G>A (p.Glu381=) | dbSNP |
| 11 | g.66850431T>A | CA381492816 | PC | c.2507A>T (p.Glu836Val) n.290-366A>T c.*516A>T (n.*516A>T) c.*983A>T (n.*983A>T) c.986A>T (p.Glu329Val) c.1211A>T (p.Glu404Val) c.1142A>T (p.Glu381Val) | |
| 11 | g.66850431T>C | CA381492815 | PC | c.2507A>G (p.Glu836Gly) n.290-366A>G c.*516A>G (n.*516A>G) c.*983A>G (n.*983A>G) c.986A>G (p.Glu329Gly) c.1211A>G (p.Glu404Gly) c.1142A>G (p.Glu381Gly) | |
| 11 | g.66850431T>G | CA381492814 | PC | c.2507A>C (p.Glu836Ala) n.290-366A>C c.*516A>C (n.*516A>C) c.*983A>C (n.*983A>C) c.986A>C (p.Glu329Ala) c.1211A>C (p.Glu404Ala) c.1142A>C (p.Glu381Ala) | |
| 11 | g.66850432C>A | CA381492817 | PC | c.2506G>T (p.Glu836Ter) n.290-367G>T c.*515G>T (n.*515G>T) c.*982G>T (n.*982G>T) c.985G>T (p.Glu329Ter) c.1210G>T (p.Glu404Ter) c.1141G>T (p.Glu381Ter) | |
| 11 | g.66850432C>G | CA381492818 | PC | c.2506G>C (p.Glu836Gln) n.290-367G>C c.*515G>C (n.*515G>C) c.*982G>C (n.*982G>C) c.985G>C (p.Glu329Gln) c.1210G>C (p.Glu404Gln) c.1141G>C (p.Glu381Gln) | |
| 11 | g.66850432C>T | CA381492819 | PC | c.2506G>A (p.Glu836Lys) n.290-367G>A c.*515G>A (n.*515G>A) c.*982G>A (n.*982G>A) c.985G>A (p.Glu329Lys) c.1210G>A (p.Glu404Lys) c.1141G>A (p.Glu381Lys) | |
| 11 | g.66850433A= | CA1979879605 | PC | c.2505T= (p.Ser835=) n.290-368T= c.*514T= (n.*514T=) c.*981T= (n.*981T=) c.984T= (p.Ser328=) c.1209T= (p.Ser403=) c.1140T= (p.Ser380=) | |
| 11 | g.66850433A>C | CA381492820 | PC | c.2505T>G (p.Ser835Arg) n.290-368T>G c.*514T>G (n.*514T>G) c.*981T>G (n.*981T>G) c.984T>G (p.Ser328Arg) c.1209T>G (p.Ser403Arg) c.1140T>G (p.Ser380Arg) | |
| 11 | g.66850433A>G | CA224122615 | PC | c.2505T>C (p.Ser835=) n.290-368T>C c.*514T>C (n.*514T>C) c.*981T>C (n.*981T>C) c.984T>C (p.Ser328=) c.1209T>C (p.Ser403=) c.1140T>C (p.Ser380=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850433A>T | CA381492821 | PC | c.2505T>A (p.Ser835Arg) n.290-368T>A c.*514T>A (n.*514T>A) c.*981T>A (n.*981T>A) c.984T>A (p.Ser328Arg) c.1209T>A (p.Ser403Arg) c.1140T>A (p.Ser380Arg) | |
| 11 | g.66850434C>A | CA381492822 | PC | c.2504G>T (p.Ser835Ile) n.290-369G>T c.*513G>T (n.*513G>T) c.*980G>T (n.*980G>T) c.983G>T (p.Ser328Ile) c.1208G>T (p.Ser403Ile) c.1139G>T (p.Ser380Ile) | ClinVar |
| 11 | g.66850434C>G | CA381492823 | PC | c.2504G>C (p.Ser835Thr) n.290-369G>C c.*513G>C (n.*513G>C) c.*980G>C (n.*980G>C) c.983G>C (p.Ser328Thr) c.1208G>C (p.Ser403Thr) c.1139G>C (p.Ser380Thr) | |
| 11 | g.66850434C>T | CA381492824 | PC | c.2504G>A (p.Ser835Asn) n.290-369G>A c.*513G>A (n.*513G>A) c.*980G>A (n.*980G>A) c.983G>A (p.Ser328Asn) c.1208G>A (p.Ser403Asn) c.1139G>A (p.Ser380Asn) | gnomAD v4 |
| 11 | g.66850435T>A | CA381492825 | PC | c.2503A>T (p.Ser835Cys) n.290-370A>T c.*512A>T (n.*512A>T) c.*979A>T (n.*979A>T) c.982A>T (p.Ser328Cys) c.1207A>T (p.Ser403Cys) c.1138A>T (p.Ser380Cys) | |
| 11 | g.66850435T>C | CA381492826 | PC | c.2503A>G (p.Ser835Gly) n.290-370A>G c.*512A>G (n.*512A>G) c.*979A>G (n.*979A>G) c.982A>G (p.Ser328Gly) c.1207A>G (p.Ser403Gly) c.1138A>G (p.Ser380Gly) | |
| 11 | g.66850435T>G | CA381492827 | PC | c.2503A>C (p.Ser835Arg) n.290-370A>C c.*512A>C (n.*512A>C) c.*979A>C (n.*979A>C) c.982A>C (p.Ser328Arg) c.1207A>C (p.Ser403Arg) c.1138A>C (p.Ser380Arg) | |
| 11 | g.66850436G>A | CA475500818 | PC | c.2502C>T (p.Tyr834=) n.290-371C>T c.*511C>T (n.*511C>T) c.*978C>T (n.*978C>T) c.981C>T (p.Tyr327=) c.1206C>T (p.Tyr402=) c.1137C>T (p.Tyr379=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66850436G>C | CA381492828 | PC | c.2502C>G (p.Tyr834Ter) n.290-371C>G c.*511C>G (n.*511C>G) c.*978C>G (n.*978C>G) c.981C>G (p.Tyr327Ter) c.1206C>G (p.Tyr402Ter) c.1137C>G (p.Tyr379Ter) | |
| 11 | g.66850436G= | CA1979879610 | PC | c.2502C= (p.Tyr834=) n.290-371C= c.*511C= (n.*511C=) c.*978C= (n.*978C=) c.981C= (p.Tyr327=) c.1206C= (p.Tyr402=) c.1137C= (p.Tyr379=) | |
| 11 | g.66850436G>T | CA381492829 | PC | c.2502C>A (p.Tyr834Ter) n.290-371C>A c.*511C>A (n.*511C>A) c.*978C>A (n.*978C>A) c.981C>A (p.Tyr327Ter) c.1206C>A (p.Tyr402Ter) c.1137C>A (p.Tyr379Ter) | |
| 11 | g.66850437T>A | CA381492830 | PC | c.2501A>T (p.Tyr834Phe) n.290-372A>T c.*510A>T (n.*510A>T) c.*977A>T (n.*977A>T) c.980A>T (p.Tyr327Phe) c.1205A>T (p.Tyr402Phe) c.1136A>T (p.Tyr379Phe) | |
| 11 | g.66850437T>C | CA381492831 | PC | c.2501A>G (p.Tyr834Cys) n.290-372A>G c.*510A>G (n.*510A>G) c.*977A>G (n.*977A>G) c.980A>G (p.Tyr327Cys) c.1205A>G (p.Tyr402Cys) c.1136A>G (p.Tyr379Cys) | gnomAD v4 |
| 11 | g.66850437T>G | CA381492832 | PC | c.2501A>C (p.Tyr834Ser) n.290-372A>C c.*510A>C (n.*510A>C) c.*977A>C (n.*977A>C) c.980A>C (p.Tyr327Ser) c.1205A>C (p.Tyr402Ser) c.1136A>C (p.Tyr379Ser) | |
| 11 | g.66850438A>C | CA381492833 | PC | c.2500T>G (p.Tyr834Asp) n.290-373T>G c.*509T>G (n.*509T>G) c.*976T>G (n.*976T>G) c.979T>G (p.Tyr327Asp) c.1204T>G (p.Tyr402Asp) c.1135T>G (p.Tyr379Asp) | |
| 11 | g.66850438A>G | CA381492834 | PC | c.2500T>C (p.Tyr834His) n.290-373T>C c.*509T>C (n.*509T>C) c.*976T>C (n.*976T>C) c.979T>C (p.Tyr327His) c.1204T>C (p.Tyr402His) c.1135T>C (p.Tyr379His) | |
| 11 | g.66850438A>T | CA381492835 | PC | c.2500T>A (p.Tyr834Asn) n.290-373T>A c.*509T>A (n.*509T>A) c.*976T>A (n.*976T>A) c.979T>A (p.Tyr327Asn) c.1204T>A (p.Tyr402Asn) c.1135T>A (p.Tyr379Asn) | |
| 11 | g.66850439G>A | CA475500819 | PC | c.2499C>T (p.Asp833=) n.290-374C>T c.*508C>T (n.*508C>T) c.*975C>T (n.*975C>T) c.978C>T (p.Asp326=) c.1203C>T (p.Asp401=) c.1134C>T (p.Asp378=) | |
| 11 | g.66850439G>C | CA381492836 | PC | c.2499C>G (p.Asp833Glu) n.290-374C>G c.*508C>G (n.*508C>G) c.*975C>G (n.*975C>G) c.978C>G (p.Asp326Glu) c.1203C>G (p.Asp401Glu) c.1134C>G (p.Asp378Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.66850439G= | CA1979879614 | PC | c.2499C= (p.Asp833=) n.290-374C= c.*508C= (n.*508C=) c.*975C= (n.*975C=) c.978C= (p.Asp326=) c.1203C= (p.Asp401=) c.1134C= (p.Asp378=) | |
| 11 | g.66850439G>T | CA381492837 | PC | c.2499C>A (p.Asp833Glu) n.290-374C>A c.*508C>A (n.*508C>A) c.*975C>A (n.*975C>A) c.978C>A (p.Asp326Glu) c.1203C>A (p.Asp401Glu) c.1134C>A (p.Asp378Glu) | |
| 11 | g.66850440T>A | CA381492838 | PC | c.2498A>T (p.Asp833Val) n.290-375A>T c.*507A>T (n.*507A>T) c.*974A>T (n.*974A>T) c.977A>T (p.Asp326Val) c.1202A>T (p.Asp401Val) c.1133A>T (p.Asp378Val) | dbSNP |
| 11 | g.66850440T>C | CA381492839 | PC | c.2498A>G (p.Asp833Gly) n.290-375A>G c.*507A>G (n.*507A>G) c.*974A>G (n.*974A>G) c.977A>G (p.Asp326Gly) c.1202A>G (p.Asp401Gly) c.1133A>G (p.Asp378Gly) | |
| 11 | g.66850440T>G | CA381492840 | PC | c.2498A>C (p.Asp833Ala) n.290-375A>C c.*507A>C (n.*507A>C) c.*974A>C (n.*974A>C) c.977A>C (p.Asp326Ala) c.1202A>C (p.Asp401Ala) c.1133A>C (p.Asp378Ala) | |
| 11 | g.66850441C>A | CA381492843 | PC | c.2497G>T (p.Asp833Tyr) n.290-376G>T c.*506G>T (n.*506G>T) c.*973G>T (n.*973G>T) c.976G>T (p.Asp326Tyr) c.1201G>T (p.Asp401Tyr) c.1132G>T (p.Asp378Tyr) | |
| 11 | g.66850441C>G | CA381492842 | PC | c.2497G>C (p.Asp833His) n.290-376G>C c.*506G>C (n.*506G>C) c.*973G>C (n.*973G>C) c.976G>C (p.Asp326His) c.1201G>C (p.Asp401His) c.1132G>C (p.Asp378His) | |
| 11 | g.66850441C>T | CA381492841 | PC | c.2497G>A (p.Asp833Asn) n.290-376G>A c.*506G>A (n.*506G>A) c.*973G>A (n.*973G>A) c.976G>A (p.Asp326Asn) c.1201G>A (p.Asp401Asn) c.1132G>A (p.Asp378Asn) | |
| 11 | g.66850442A>C | CA381492844 | PC | c.2496T>G (p.Phe832Leu) n.290-377T>G c.*505T>G (n.*505T>G) c.*972T>G (n.*972T>G) c.975T>G (p.Phe325Leu) c.1200T>G (p.Phe400Leu) c.1131T>G (p.Phe377Leu) | |
| 11 | g.66850442A>G | CA475500820 | PC | c.2496T>C (p.Phe832=) n.290-377T>C c.*505T>C (n.*505T>C) c.*972T>C (n.*972T>C) c.975T>C (p.Phe325=) c.1200T>C (p.Phe400=) c.1131T>C (p.Phe377=) | |
| 11 | g.66850442A>T | CA381492845 | PC | c.2496T>A (p.Phe832Leu) n.290-377T>A c.*505T>A (n.*505T>A) c.*972T>A (n.*972T>A) c.975T>A (p.Phe325Leu) c.1200T>A (p.Phe400Leu) c.1131T>A (p.Phe377Leu) | |
| 11 | g.66850443A>C | CA381492846 | PC | c.2495T>G (p.Phe832Cys) n.290-378T>G c.*504T>G (n.*504T>G) c.*971T>G (n.*971T>G) c.974T>G (p.Phe325Cys) c.1199T>G (p.Phe400Cys) c.1130T>G (p.Phe377Cys) | |
| 11 | g.66850443A>G | CA381492847 | PC | c.2495T>C (p.Phe832Ser) n.290-378T>C c.*504T>C (n.*504T>C) c.*971T>C (n.*971T>C) c.974T>C (p.Phe325Ser) c.1199T>C (p.Phe400Ser) c.1130T>C (p.Phe377Ser) | |
| 11 | g.66850443A>T | CA381492848 | PC | c.2495T>A (p.Phe832Tyr) n.290-378T>A c.*504T>A (n.*504T>A) c.*971T>A (n.*971T>A) c.974T>A (p.Phe325Tyr) c.1199T>A (p.Phe400Tyr) c.1130T>A (p.Phe377Tyr) | |
| 11 | g.66850443_66850445delinsAAC | CA1979879618 | PC | c.2493_2495delinsGTT (p.Val831=) n.290-380_290-378delinsGTT c.*502_*504delinsGTT (n.*502_*504delinsGTT) c.*969_*971delinsGTT (n.*969_*971delinsGTT) c.972_974delinsGTT (p.Val324=) c.1197_1199delinsGTT (p.Val399=) c.1128_1130delinsGTT (p.Val376=) | |
| 11 | g.66850444_66850446del | CA912972936 | PC | c.2493_2495del (p.Phe832del) n.290-380_290-378del c.*502_*504del (n.*502_*504del) c.*969_*971del (n.*969_*971del) c.972_974del (p.Phe325del) c.1197_1199del (p.Phe400del) c.1128_1130del (p.Phe377del) | |
| 11 | g.66850444A= | CA1979879624 | PC | c.2494T= (p.Phe832=) n.290-379T= c.*503T= (n.*503T=) c.*970T= (n.*970T=) c.973T= (p.Phe325=) c.1198T= (p.Phe400=) c.1129T= (p.Phe377=) | |
| 11 | g.66850444A>C | CA381492849 | PC | c.2494T>G (p.Phe832Val) n.290-379T>G c.*503T>G (n.*503T>G) c.*970T>G (n.*970T>G) c.973T>G (p.Phe325Val) c.1198T>G (p.Phe400Val) c.1129T>G (p.Phe377Val) | |
| 11 | g.66850444A>G | CA381492850 | PC | c.2494T>C (p.Phe832Leu) n.290-379T>C c.*503T>C (n.*503T>C) c.*970T>C (n.*970T>C) c.973T>C (p.Phe325Leu) c.1198T>C (p.Phe400Leu) c.1129T>C (p.Phe377Leu) | dbSNP |
| 11 | g.66850444A>T | CA381492851 | PC | c.2494T>A (p.Phe832Ile) n.290-379T>A c.*503T>A (n.*503T>A) c.*970T>A (n.*970T>A) c.973T>A (p.Phe325Ile) c.1198T>A (p.Phe400Ile) c.1129T>A (p.Phe377Ile) | ClinVar dbSNP |
| 11 | g.66850446_66850447del | CA6131043 | PC | c.2493_2494del (p.Phe832Ter) n.290-380_290-379del c.*502_*503del (n.*502_*503del) c.*969_*970del (n.*969_*970del) c.972_973del (p.Phe325Ter) c.1197_1198del (p.Phe400Ter) c.1128_1129del (p.Phe377Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850445C>A | CA475500821 | PC | c.2493G>T (p.Val831=) n.290-380G>T c.*502G>T (n.*502G>T) c.*969G>T (n.*969G>T) c.972G>T (p.Val324=) c.1197G>T (p.Val399=) c.1128G>T (p.Val376=) | gnomAD v4 |
| 11 | g.66850445C= | CA1979879628 | PC | c.2493G= (p.Val831=) n.290-380G= c.*502G= (n.*502G=) c.*969G= (n.*969G=) c.972G= (p.Val324=) c.1197G= (p.Val399=) c.1128G= (p.Val376=) | |
| 11 | g.66850445C>G | CA475500822 | PC | c.2493G>C (p.Val831=) n.290-380G>C c.*502G>C (n.*502G>C) c.*969G>C (n.*969G>C) c.972G>C (p.Val324=) c.1197G>C (p.Val399=) c.1128G>C (p.Val376=) | |
| 11 | g.66850445C>T | CA475500823 | PC | c.2493G>A (p.Val831=) n.290-380G>A c.*502G>A (n.*502G>A) c.*969G>A (n.*969G>A) c.972G>A (p.Val324=) c.1197G>A (p.Val399=) c.1128G>A (p.Val376=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850446A= | CA1979879631 | PC | c.2492T= (p.Val831=) n.290-381T= c.*501T= (n.*501T=) c.*968T= (n.*968T=) c.971T= (p.Val324=) c.1196T= (p.Val399=) c.1127T= (p.Val376=) | |
| 11 | g.66850446A>C | CA381492852 | PC | c.2492T>G (p.Val831Gly) n.290-381T>G c.*501T>G (n.*501T>G) c.*968T>G (n.*968T>G) c.971T>G (p.Val324Gly) c.1196T>G (p.Val399Gly) c.1127T>G (p.Val376Gly) | |
| 11 | g.66850446A>G | CA6131044 | PC | c.2492T>C (p.Val831Ala) n.290-381T>C c.*501T>C (n.*501T>C) c.*968T>C (n.*968T>C) c.971T>C (p.Val324Ala) c.1196T>C (p.Val399Ala) c.1127T>C (p.Val376Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.66850446A>T | CA381492853 | PC | c.2492T>A (p.Val831Glu) n.290-381T>A c.*501T>A (n.*501T>A) c.*968T>A (n.*968T>A) c.971T>A (p.Val324Glu) c.1196T>A (p.Val399Glu) c.1127T>A (p.Val376Glu) | |
| 11 | g.66850447C>A | CA381492854 | PC | c.2491G>T (p.Val831Leu) n.290-382G>T c.*500G>T (n.*500G>T) c.*967G>T (n.*967G>T) c.970G>T (p.Val324Leu) c.1195G>T (p.Val399Leu) c.1126G>T (p.Val376Leu) | |
| 11 | g.66850447C= | CA1979879637 | PC | c.2491G= (p.Val831=) n.290-382G= c.*500G= (n.*500G=) c.*967G= (n.*967G=) c.970G= (p.Val324=) c.1195G= (p.Val399=) c.1126G= (p.Val376=) | |
| 11 | g.66850447C>G | CA381492855 | PC | c.2491G>C (p.Val831Leu) n.290-382G>C c.*500G>C (n.*500G>C) c.*967G>C (n.*967G>C) c.970G>C (p.Val324Leu) c.1195G>C (p.Val399Leu) c.1126G>C (p.Val376Leu) | |
| 11 | g.66850447C>T | CA6131045 | PC | c.2491G>A (p.Val831Met) n.290-382G>A c.*500G>A (n.*500G>A) c.*967G>A (n.*967G>A) c.970G>A (p.Val324Met) c.1195G>A (p.Val399Met) c.1126G>A (p.Val376Met) | dbSNP ExAC gnomAD v4 COSMIC |
| 11 | g.66850448G>A | CA6131046 | PC | c.2490C>T (p.Arg830=) n.290-383C>T c.*499C>T (n.*499C>T) c.*966C>T (n.*966C>T) c.969C>T (p.Arg323=) c.1194C>T (p.Arg398=) c.1125C>T (p.Arg375=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.66850448G>C | CA475500824 | PC | c.2490C>G (p.Arg830=) n.290-383C>G c.*499C>G (n.*499C>G) c.*966C>G (n.*966C>G) c.969C>G (p.Arg323=) c.1194C>G (p.Arg398=) c.1125C>G (p.Arg375=) | |
| 11 | g.66850448G= | CA1979879643 | PC | c.2490C= (p.Arg830=) n.290-383C= c.*499C= (n.*499C=) c.*966C= (n.*966C=) c.969C= (p.Arg323=) c.1194C= (p.Arg398=) c.1125C= (p.Arg375=) | |
| 11 | g.66850448G>T | CA475500825 | PC | c.2490C>A (p.Arg830=) n.290-383C>A c.*499C>A (n.*499C>A) c.*966C>A (n.*966C>A) c.969C>A (p.Arg323=) c.1194C>A (p.Arg398=) c.1125C>A (p.Arg375=) | ClinVar dbSNP |