UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.127823973_127830053del | CA1139661202 | ENG | c.-327-226_588+331del c.220-226_1134+331del | ClinVar |
| 9 | g.127823973_127830815del | CA1139661203 | ENG | c.-327-988_588+331del c.220-988_1134+331del | ClinVar |
| 9 | g.127824396_127824499del | CA2580079628 | ENG | c.446-49_500del c.992-49_1046del | ClinVar |
| 9 | g.127824408_127824429delinsTGGTCTGGATCGGTGCGGGTGA | CA1879972697 | ENG | c.463_484delinsTCACCCGCACCGATCCAGACCA (p.Ser155=) c.1009_1030delinsTCACCCGCACCGATCCAGACCA (p.Ser337=) | |
| 9 | g.127824415_127824435del | CA590939409 | ENG | c.463_483del (p.Ser155_Thr161del) c.1009_1029del (p.Ser337_Thr343del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824412C>A | CA374981698 | ENG | c.480G>T (p.Gln160His) c.1026G>T (p.Gln342His) | ClinVar dbSNP |
| 9 | g.127824412C= | CA1879972712 | ENG | c.480G= (p.Gln160=) c.1026G= (p.Gln342=) | |
| 9 | g.127824412C>G | CA374981700 | ENG | c.480G>C (p.Gln160His) c.1026G>C (p.Gln342His) | |
| 9 | g.127824412C>T | CA467230845 | ENG | c.480G>A (p.Gln160=) c.1026G>A (p.Gln342=) | |
| 9 | g.127824413T>A | CA374981702 | ENG | c.479A>T (p.Gln160Leu) c.1025A>T (p.Gln342Leu) | |
| 9 | g.127824413T>C | CA374981704 | ENG | c.479A>G (p.Gln160Arg) c.1025A>G (p.Gln342Arg) | |
| 9 | g.127824413T>G | CA374981706 | ENG | c.479A>C (p.Gln160Pro) c.1025A>C (p.Gln342Pro) | |
| 9 | g.127824413_127824423delinsTGGATCGGTGC | CA1879972713 | ENG | c.469_479delinsGCACCGATCCA (p.Ala157=) c.1015_1025delinsGCACCGATCCA (p.Ala339=) | |
| 9 | g.127824414G>A | CA374981709 | ENG | c.478C>T (p.Gln160Ter) c.1024C>T (p.Gln342Ter) | ClinVar dbSNP |
| 9 | g.127824414G>C | CA5252895 | ENG | c.478C>G (p.Gln160Glu) c.1024C>G (p.Gln342Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127824414G= | CA1879972722 | ENG | c.478C= (p.Gln160=) c.1024C= (p.Gln342=) | |
| 9 | g.127824414G>T | CA374981708 | ENG | c.478C>A (p.Gln160Lys) c.1024C>A (p.Gln342Lys) | gnomAD v4 |
| 9 | g.127824415del | CA2695211240 | ENG | c.478del (p.Gln160ArgfsTer17) c.1024del (p.Gln342ArgfsTer17) | |
| 9 | g.127824416_127824425del | CA658656032 | ENG | c.469_478del (p.Ala157ArgfsTer17) c.1015_1024del (p.Ala339ArgfsTer17) | ClinVar dbSNP |
| 9 | g.127824415G>A | CA200312668 | ENG | c.477C>T (p.Ile159=) c.1023C>T (p.Ile341=) | dbSNP gnomAD v4 |
| 9 | g.127824415G>C | CA374981711 | ENG | c.477C>G (p.Ile159Met) c.1023C>G (p.Ile341Met) | |
| 9 | g.127824415G= | CA1879972730 | ENG | c.477C= (p.Ile159=) c.1023C= (p.Ile341=) | |
| 9 | g.127824415G>T | CA467230849 | ENG | c.477C>A (p.Ile159=) c.1023C>A (p.Ile341=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127824416A= | CA1879972734 | ENG | c.476T= (p.Ile159=) c.1022T= (p.Ile341=) | |
| 9 | g.127824416A>C | CA374981714 | ENG | c.476T>G (p.Ile159Ser) c.1022T>G (p.Ile341Ser) | |
| 9 | g.127824416A>G | CA5252896 | ENG | c.476T>C (p.Ile159Thr) c.1022T>C (p.Ile341Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127824416A>T | CA374981716 | ENG | c.476T>A (p.Ile159Asn) c.1022T>A (p.Ile341Asn) | |
| 9 | g.127824417T>A | CA374981719 | ENG | c.475A>T (p.Ile159Phe) c.1021A>T (p.Ile341Phe) | |
| 9 | g.127824417T>C | CA374981720 | ENG | c.475A>G (p.Ile159Val) c.1021A>G (p.Ile341Val) | |
| 9 | g.127824417T>G | CA374981722 | ENG | c.475A>C (p.Ile159Leu) c.1021A>C (p.Ile341Leu) | |
| 9 | g.127824418C>A | CA467230852 | ENG | c.474G>T (p.Pro158=) c.1020G>T (p.Pro340=) | gnomAD v4 |
| 9 | g.127824418C= | CA1879972742 | ENG | c.474G= (p.Pro158=) c.1020G= (p.Pro340=) | |
| 9 | g.127824418C>G | CA467230853 | ENG | c.474G>C (p.Pro158=) c.1020G>C (p.Pro340=) | |
| 9 | g.127824418C>T | CA16612701 | ENG | c.474G>A (p.Pro158=) c.1020G>A (p.Pro340=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824419G>A | CA5252897 | ENG | c.473C>T (p.Pro158Leu) c.1019C>T (p.Pro340Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824419G>C | CA374981725 | ENG | c.473C>G (p.Pro158Arg) c.1019C>G (p.Pro340Arg) | gnomAD v4 |
| 9 | g.127824419G= | CA1879972750 | ENG | c.473C= (p.Pro158=) c.1019C= (p.Pro340=) | |
| 9 | g.127824419G>T | CA374981726 | ENG | c.473C>A (p.Pro158Gln) c.1019C>A (p.Pro340Gln) | |
| 9 | g.127824419_127824420del | CA2573143989 | ENG | c.472_473del (p.Pro158AspfsTer11) c.1018_1019del (p.Pro340AspfsTer11) | dbSNP |
| 9 | g.127824420G>A | CA5252898 | ENG | c.472C>T (p.Pro158Ser) c.1018C>T (p.Pro340Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824420G>C | CA374981727 | ENG | c.472C>G (p.Pro158Ala) c.1018C>G (p.Pro340Ala) | |
| 9 | g.127824420G= | CA1879972753 | ENG | c.472C= (p.Pro158=) c.1018C= (p.Pro340=) | |
| 9 | g.127824420G>T | CA374981728 | ENG | c.472C>A (p.Pro158Thr) c.1018C>A (p.Pro340Thr) | gnomAD v4 |
| 9 | g.127824421T>A | CA467230856 | ENG | c.471A>T (p.Ala157=) c.1017A>T (p.Ala339=) | |
| 9 | g.127824421T>C | CA467230857 | ENG | c.471A>G (p.Ala157=) c.1017A>G (p.Ala339=) | ClinVar dbSNP |
| 9 | g.127824421T>G | CA467230859 | ENG | c.471A>C (p.Ala157=) c.1017A>C (p.Ala339=) | |
| 9 | g.127824422G>A | CA374981729 | ENG | c.470C>T (p.Ala157Val) c.1016C>T (p.Ala339Val) | |
| 9 | g.127824422G>C | CA374981731 | ENG | c.470C>G (p.Ala157Gly) c.1016C>G (p.Ala339Gly) | |
| 9 | g.127824422G>T | CA374981730 | ENG | c.470C>A (p.Ala157Glu) c.1016C>A (p.Ala339Glu) | |
| 9 | g.127824423C>A | CA374981732 | ENG | c.469G>T (p.Ala157Ser) c.1015G>T (p.Ala339Ser) | gnomAD v3 gnomAD v4 |
| 9 | g.127824423C= | CA1879972757 | ENG | c.469G= (p.Ala157=) c.1015G= (p.Ala339=) | |
| 9 | g.127824423C>G | CA374981733 | ENG | c.469G>C (p.Ala157Pro) c.1015G>C (p.Ala339Pro) | |
| 9 | g.127824423C>T | CA5252899 | ENG | c.469G>A (p.Ala157Thr) c.1015G>A (p.Ala339Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824424G>A | CA16605576 | ENG | c.468C>T (p.Pro156=) c.1014C>T (p.Pro338=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127824424G>C | CA467230861 | ENG | c.468C>G (p.Pro156=) c.1014C>G (p.Pro338=) | |
| 9 | g.127824424G= | CA1879972764 | ENG | c.468C= (p.Pro156=) c.1014C= (p.Pro338=) | |
| 9 | g.127824424G>T | CA467230862 | ENG | c.468C>A (p.Pro156=) c.1014C>A (p.Pro338=) | |
| 9 | g.127824425G>A | CA374981734 | ENG | c.467C>T (p.Pro156Leu) c.1013C>T (p.Pro338Leu) | |
| 9 | g.127824425G>C | CA374981735 | ENG | c.467C>G (p.Pro156Arg) c.1013C>G (p.Pro338Arg) | |
| 9 | g.127824425G>T | CA374981736 | ENG | c.467C>A (p.Pro156His) c.1013C>A (p.Pro338His) | |
| 9 | g.127824426G>A | CA374981737 | ENG | c.466C>T (p.Pro156Ser) c.1012C>T (p.Pro338Ser) | gnomAD v4 |
| 9 | g.127824426G>C | CA374981738 | ENG | c.466C>G (p.Pro156Ala) c.1012C>G (p.Pro338Ala) | |
| 9 | g.127824426G>T | CA374981739 | ENG | c.466C>A (p.Pro156Thr) c.1012C>A (p.Pro338Thr) | |
| 9 | g.127824427T>A | CA467230868 | ENG | c.465A>T (p.Ser155=) c.1011A>T (p.Ser337=) | |
| 9 | g.127824427T>C | CA467230866 | ENG | c.465A>G (p.Ser155=) c.1011A>G (p.Ser337=) | gnomAD v4 |
| 9 | g.127824427T>G | CA467230867 | ENG | c.465A>C (p.Ser155=) c.1011A>C (p.Ser337=) | |
| 9 | g.127824428G>A | CA374981740 | ENG | c.464C>T (p.Ser155Leu) c.1010C>T (p.Ser337Leu) | |
| 9 | g.127824428G>C | CA374981741 | ENG | c.464C>G (p.Ser155Ter) c.1010C>G (p.Ser337Ter) | |
| 9 | g.127824428G>T | CA374981742 | ENG | c.464C>A (p.Ser155Ter) c.1010C>A (p.Ser337Ter) | |
| 9 | g.127824429A>C | CA374981744 | ENG | c.463T>G (p.Ser155Ala) c.1009T>G (p.Ser337Ala) | gnomAD v4 |
| 9 | g.127824429A>G | CA374981745 | ENG | c.463T>C (p.Ser155Pro) c.1009T>C (p.Ser337Pro) | |
| 9 | g.127824429A>T | CA374981743 | ENG | c.463T>A (p.Ser155Thr) c.1009T>A (p.Ser337Thr) | |
| 9 | g.127824430G>A | CA5252900 | ENG | c.462C>T (p.Thr154=) c.1008C>T (p.Thr336=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824430G>C | CA467230872 | ENG | c.462C>G (p.Thr154=) c.1008C>G (p.Thr336=) | |
| 9 | g.127824430G= | CA1879972771 | ENG | c.462C= (p.Thr154=) c.1008C= (p.Thr336=) | |
| 9 | g.127824430G>T | CA467230873 | ENG | c.462C>A (p.Thr154=) c.1008C>A (p.Thr336=) | gnomAD v4 |
| 9 | g.127824430_127824431insC | CA2695211242 | ENG | c.461_462insG (p.Ser155LeufsTer15) c.1007_1008insG (p.Ser337LeufsTer15) | |
| 9 | g.127824431G>A | CA374981746 | ENG | c.461C>T (p.Thr154Ile) c.1007C>T (p.Thr336Ile) | |
| 9 | g.127824431G>C | CA374981748 | ENG | c.461C>G (p.Thr154Ser) c.1007C>G (p.Thr336Ser) | |
| 9 | g.127824431G>T | CA374981747 | ENG | c.461C>A (p.Thr154Asn) c.1007C>A (p.Thr336Asn) | gnomAD v4 |
| 9 | g.127824432T>A | CA374981749 | ENG | c.460A>T (p.Thr154Ser) c.1006A>T (p.Thr336Ser) | |
| 9 | g.127824432T>C | CA374981751 | ENG | c.460A>G (p.Thr154Ala) c.1006A>G (p.Thr336Ala) | gnomAD v4 |
| 9 | g.127824432T>G | CA374981750 | ENG | c.460A>C (p.Thr154Pro) c.1006A>C (p.Thr336Pro) | |
| 9 | g.127824432_127824433insAC | CA2499219638 | ENG | c.459_460insGT (p.Thr154ValfsTer24) c.1005_1006insGT (p.Thr336ValfsTer24) | dbSNP |
| 9 | g.127824433C>A | CA374981752 | ENG | c.459G>T (p.Gln153His) c.1005G>T (p.Gln335His) | |
| 9 | g.127824433C>G | CA374981753 | ENG | c.459G>C (p.Gln153His) c.1005G>C (p.Gln335His) | |
| 9 | g.127824433C>T | CA467230876 | ENG | c.459G>A (p.Gln153=) c.1005G>A (p.Gln335=) | |
| 9 | g.127824434T>A | CA374981754 | ENG | c.458A>T (p.Gln153Leu) c.1004A>T (p.Gln335Leu) | |
| 9 | g.127824434T>C | CA374981755 | ENG | c.458A>G (p.Gln153Arg) c.1004A>G (p.Gln335Arg) | |
| 9 | g.127824434T>G | CA374981756 | ENG | c.458A>C (p.Gln153Pro) c.1004A>C (p.Gln335Pro) | |
| 9 | g.127824435G>A | CA374981757 | ENG | c.457C>T (p.Gln153Ter) c.1003C>T (p.Gln335Ter) | ClinVar |
| 9 | g.127824435G>C | CA374981758 | ENG | c.457C>G (p.Gln153Glu) c.1003C>G (p.Gln335Glu) | |
| 9 | g.127824435G>T | CA374981759 | ENG | c.457C>A (p.Gln153Lys) c.1003C>A (p.Gln335Lys) | |
| 9 | g.127824435_127824436delinsAG | CA2580079630 | ENG | c.456_457delinsCT (p.Leu153Ter) c.1002_1003delinsCT (p.Leu335Ter) | ClinVar |
| 9 | g.127824436C>A | CA467230877 | ENG | c.456G>T (p.Leu152=) c.1002G>T (p.Leu334=) | |
| 9 | g.127824436C= | CA1879972777 | ENG | c.456G= (p.Leu152=) c.1002G= (p.Leu334=) | |
| 9 | g.127824436C>G | CA467230878 | ENG | c.456G>C (p.Leu152=) c.1002G>C (p.Leu334=) | |
| 9 | g.127824436C>T | CA467230879 | ENG | c.456G>A (p.Leu152=) c.1002G>A (p.Leu334=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824437A>C | CA374981760 | ENG | c.455T>G (p.Leu152Arg) c.1001T>G (p.Leu334Arg) | |
| 9 | g.127824437A>G | CA374981761 | ENG | c.455T>C (p.Leu152Pro) c.1001T>C (p.Leu334Pro) | |
| 9 | g.127824437A>T | CA374981762 | ENG | c.455T>A (p.Leu152Gln) c.1001T>A (p.Leu334Gln) | |
| 9 | g.127824438_127824442del | CA2695211243 | ENG | c.451_455del (p.Arg151AlafsTer17) c.997_1001del (p.Arg333AlafsTer17) | ClinVar |
| 9 | g.127824438G>A | CA467230883 | ENG | c.454C>T (p.Leu152=) c.1000C>T (p.Leu334=) | |
| 9 | g.127824438G>C | CA374981763 | ENG | c.454C>G (p.Leu152Val) c.1000C>G (p.Leu334Val) | |
| 9 | g.127824438G>T | CA374981764 | ENG | c.454C>A (p.Leu152Met) c.1000C>A (p.Leu334Met) | |
| 9 | g.127824439C>A | CA374981765 | ENG | c.453G>T (p.Arg151Ser) c.999G>T (p.Arg333Ser) | |
| 9 | g.127824439C= | CA1879972782 | ENG | c.453G= (p.Arg151=) c.999G= (p.Arg333=) | |
| 9 | g.127824439C>G | CA374981766 | ENG | c.453G>C (p.Arg151Ser) c.999G>C (p.Arg333Ser) | |
| 9 | g.127824439C>T | CA5252901 | ENG | c.453G>A (p.Arg151=) c.999G>A (p.Arg333=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824440C>A | CA374981767 | ENG | c.452G>T (p.Arg151Met) c.998G>T (p.Arg333Met) | |
| 9 | g.127824440C= | CA1879972786 | ENG | c.452G= (p.Arg151=) c.998G= (p.Arg333=) | |
| 9 | g.127824440C>G | CA374981768 | ENG | c.452G>C (p.Arg151Thr) c.998G>C (p.Arg333Thr) | |
| 9 | g.127824440C>T | CA374981769 | ENG | c.452G>A (p.Arg151Lys) c.998G>A (p.Arg333Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824441T>A | CA374981770 | ENG | c.451A>T (p.Arg151Trp) c.997A>T (p.Arg333Trp) | |
| 9 | g.127824441T>C | CA374981771 | ENG | c.451A>G (p.Arg151Gly) c.997A>G (p.Arg333Gly) | gnomAD v4 |
| 9 | g.127824441T>G | CA467230884 | ENG | c.451A>C (p.Arg151=) c.997A>C (p.Arg333=) | |
| 9 | g.127824441_127824442dup | CA2573143990 | ENG | c.450_451dup (p.Arg151IlefsTer27) c.996_997dup (p.Arg333IlefsTer27) | ClinVar dbSNP |
| 9 | g.127824442A= | CA1879972793 | ENG | c.450T= (p.Gly150=) c.996T= (p.Gly332=) | |
| 9 | g.127824442A>C | CA467230885 | ENG | c.450T>G (p.Gly150=) c.996T>G (p.Gly332=) | |
| 9 | g.127824442A>G | CA5252902 | ENG | c.450T>C (p.Gly150=) c.996T>C (p.Gly332=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127824442A>T | CA467230887 | ENG | c.450T>A (p.Gly150=) c.996T>A (p.Gly332=) | |
| 9 | g.127824443C>A | CA374981772 | ENG | c.449G>T (p.Gly150Val) c.995G>T (p.Gly332Val) | |
| 9 | g.127824443C>G | CA374981773 | ENG | c.449G>C (p.Gly150Ala) c.995G>C (p.Gly332Ala) | |
| 9 | g.127824443C>T | CA374981774 | ENG | c.449G>A (p.Gly150Asp) c.995G>A (p.Gly332Asp) | |
| 9 | g.127824444del | CA2695211245 | ENG | c.449del (p.Gly150ValfsTer27) c.995del (p.Gly332ValfsTer27) | |
| 9 | g.127824444C>A | CA374981777 | ENG | c.448G>T (p.Gly150Cys) c.994G>T (p.Gly332Cys) | |
| 9 | g.127824444C>G | CA374981776 | ENG | c.448G>C (p.Gly150Arg) c.994G>C (p.Gly332Arg) | |
| 9 | g.127824444C>T | CA374981775 | ENG | c.448G>A (p.Gly150Ser) c.994G>A (p.Gly332Ser) | |
| 9 | g.127824445A>C | CA467230888 | ENG | c.447T>G (p.Gly149=) c.993T>G (p.Gly331=) | |
| 9 | g.127824445A>G | CA467230889 | ENG | c.447T>C (p.Gly149=) c.993T>C (p.Gly331=) | gnomAD v4 |
| 9 | g.127824445A>T | CA467230890 | ENG | c.447T>A (p.Gly149=) c.993T>A (p.Gly331=) | |
| 9 | g.127824446C>A | CA374981778 | ENG | c.446G>T (p.Gly149Val) c.992G>T (p.Gly331Val) | ClinVar gnomAD v4 |
| 9 | g.127824446C>G | CA374981779 | ENG | c.446G>C (p.Gly149Ala) c.992G>C (p.Gly331Ala) | |
| 9 | g.127824446C>T | CA374981780 | ENG | c.446G>A (p.Gly149Asp) c.992G>A (p.Gly331Asp) | gnomAD v4 |
| 9 | g.127824447C>A | CA374981781 | ENG | c.446-1G>T (n.446-1G>T) c.992-1G>T (n.992-1G>T) | |
| 9 | g.127824447C>G | CA374981782 | ENG | c.446-1G>C (n.446-1G>C) c.992-1G>C (n.992-1G>C) | |
| 9 | g.127824447C>T | CA374981783 | ENG | c.446-1G>A (n.446-1G>A) c.992-1G>A (n.992-1G>A) | gnomAD v4 |
| 9 | g.127824448T>A | CA374981784 | ENG | c.446-2A>T (n.446-2A>T) c.992-2A>T (n.992-2A>T) | |
| 9 | g.127824448T>C | CA374981785 | ENG | c.446-2A>G (n.446-2A>G) c.992-2A>G (n.992-2A>G) | ClinVar dbSNP |
| 9 | g.127824448T>G | CA374981786 | ENG | c.446-2A>C (n.446-2A>C) c.992-2A>C (n.992-2A>C) | |
| 9 | g.127824448T= | CA1879972795 | ENG | c.446-2A= (n.446-2A=) c.992-2A= (n.992-2A=) | |
| 9 | g.127824449G>A | CA916081553 | ENG | c.446-3C>T (n.446-3C>T) c.992-3C>T (n.992-3C>T) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127824449G>C | CA2573143991 | ENG | c.446-3C>G (n.446-3C>G) c.992-3C>G (n.992-3C>G) | ClinVar dbSNP |
| 9 | g.127824449G= | CA1879972800 | ENG | c.446-3C= (n.446-3C=) c.992-3C= (n.992-3C=) | |
| 9 | g.127824451_127824455del | CA2691807695 | ENG | c.446-7_446-3del (n.446-7_446-3del) c.992-7_992-3del (n.992-7_992-3del) | gnomAD v4 |
| 9 | g.127824450del | CA2691807701 | ENG | c.446-4del (n.446-4del) c.992-4del (n.992-4del) | gnomAD v4 |
| 9 | g.127824450T>C | CA590939410 | ENG | c.446-4A>G (n.446-4A>G) c.992-4A>G (n.992-4A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127824450T= | CA1879972804 | ENG | c.446-4A= (n.446-4A=) c.992-4A= (n.992-4A=) | |
| 9 | g.127824451G>A | CA2691807724 | ENG | c.446-5C>T (n.446-5C>T) c.992-5C>T (n.992-5C>T) | gnomAD v4 |
| 9 | g.127824451G>C | CA5252904 | ENG | c.446-5C>G (n.446-5C>G) c.992-5C>G (n.992-5C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824451G= | CA1879972808 | ENG | c.446-5C= (n.446-5C=) c.992-5C= (n.992-5C=) | |
| 9 | g.127824451G>T | CA5252903 | ENG | c.446-5C>A (n.446-5C>A) c.992-5C>A (n.992-5C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824454del | CA2691807722 | ENG | c.446-5del (n.446-5del) c.992-5del (n.992-5del) | gnomAD v4 |
| 9 | g.127824452G>A | CA5252905 | ENG | c.446-6C>T (n.446-6C>T) c.992-6C>T (n.992-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127824452G= | CA1879972815 | ENG | c.446-6C= (n.446-6C=) c.992-6C= (n.992-6C=) | |
| 9 | g.127824453G>A | CA200312712 | ENG | c.446-7C>T (n.446-7C>T) c.992-7C>T (n.992-7C>T) | dbSNP gnomAD v4 |
| 9 | g.127824453G= | CA1879972822 | ENG | c.446-7C= (n.446-7C=) c.992-7C= (n.992-7C=) | |
| 9 | g.127824454G>A | CA2580079631 | ENG | c.446-8C>T (n.446-8C>T) c.992-8C>T (n.992-8C>T) | ClinVar |
| 9 | g.127824455T>C | CA590939411 | ENG | c.446-9A>G (n.446-9A>G) c.992-9A>G (n.992-9A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127824455T= | CA1879972828 | ENG | c.446-9A= (n.446-9A=) c.992-9A= (n.992-9A=) | |
| 9 | g.127824457G>A | CA2691807741 | ENG | c.446-11C>T (n.446-11C>T) c.992-11C>T (n.992-11C>T) | gnomAD v4 |
| 9 | g.127824460del | CA2785996357 | ENG | c.446-14del (n.446-14del) c.992-14del (n.992-14del) | |
| 9 | g.127824461A>G | CA2691807744 | ENG | c.446-15T>C (n.446-15T>C) c.992-15T>C (n.992-15T>C) | gnomAD v4 |
| 9 | g.127824462G= | CA1879972832 | ENG | c.446-16C= (n.446-16C=) c.992-16C= (n.992-16C=) | |
| 9 | g.127824462G>T | CA1129279218 | ENG | c.446-16C>A (n.446-16C>A) c.992-16C>A (n.992-16C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127824464C>T | CA2519610616 | ENG | c.446-18G>A (n.446-18G>A) c.992-18G>A (n.992-18G>A) | |
| 9 | g.127824465A>G | CA2691807745 | ENG | c.446-19T>C (n.446-19T>C) c.992-19T>C (n.992-19T>C) | gnomAD v4 |
| 9 | g.127824467G>A | CA590939412 | ENG | c.446-21C>T (n.446-21C>T) c.992-21C>T (n.992-21C>T) | dbSNP gnomAD v2 |
| 9 | g.127824467G= | CA1879972837 | ENG | c.446-21C= (n.446-21C=) c.992-21C= (n.992-21C=) | |
| 9 | g.127824469C>A | CA2579461243 | ENG | c.446-23G>T (n.446-23G>T) c.992-23G>T (n.992-23G>T) | |
| 9 | g.127824469C= | CA1879972840 | ENG | c.446-23G= (n.446-23G=) c.992-23G= (n.992-23G=) | |
| 9 | g.127824469C>T | CA5252906 | ENG | c.446-23G>A (n.446-23G>A) c.992-23G>A (n.992-23G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127824473C= | CA1879972845 | ENG | c.446-27G= (n.446-27G=) c.992-27G= (n.992-27G=) | |
| 9 | g.127824473C>G | CA2691807751 | ENG | c.446-27G>C (n.446-27G>C) c.992-27G>C (n.992-27G>C) | dbSNP gnomAD v4 |
| 9 | g.127824473C>T | CA5252907 | ENG | c.446-27G>A (n.446-27G>A) c.992-27G>A (n.992-27G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824473_127824477delinsCGGCT | CA1879972843 | ENG | c.446-31_446-27delinsAGCCG (n.446-31_446-27delinsAGCCG) c.992-31_992-27delinsAGCCG (n.992-31_992-27delinsAGCCG) | |
| 9 | g.127824474G>A | CA1879972851 | ENG | c.446-28C>T (n.446-28C>T) c.992-28C>T (n.992-28C>T) | dbSNP gnomAD v4 |
| 9 | g.127824474G= | CA1879972850 | ENG | c.446-28C= (n.446-28C=) c.992-28C= (n.992-28C=) | |
| 9 | g.127824475del | CA2691807757 | ENG | c.446-28del (n.446-28del) c.992-28del (n.992-28del) | gnomAD v4 |
| 9 | g.127824476_127824479del | CA590939413 | ENG | c.446-31_446-28del (n.446-31_446-28del) c.992-31_992-28del (n.992-31_992-28del) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127824475G= | CA1879972854 | ENG | c.446-29C= (n.446-29C=) c.992-29C= (n.992-29C=) | |
| 9 | g.127824475G>T | CA860196568 | ENG | c.446-29C>A (n.446-29C>A) c.992-29C>A (n.992-29C>A) | dbSNP gnomAD v4 |
| 9 | g.127824476C= | CA1879972857 | ENG | c.446-30G= (n.446-30G=) c.992-30G= (n.992-30G=) | |
| 9 | g.127824476C>G | CA590939414 | ENG | c.446-30G>C (n.446-30G>C) c.992-30G>C (n.992-30G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127824477T>C | CA2579461244 | ENG | c.446-31A>G (n.446-31A>G) c.992-31A>G (n.992-31A>G) | gnomAD v4 |
| 9 | g.127824479_127824489dup | CA5252908 | ENG | c.446-41_446-31dup (n.446-41_446-31dup) c.992-41_992-31dup (n.992-41_992-31dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824478G>A | CA1129279221 | ENG | c.446-32C>T (n.446-32C>T) c.992-32C>T (n.992-32C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127824478G= | CA1879972860 | ENG | c.446-32C= (n.446-32C=) c.992-32C= (n.992-32C=) | |
| 9 | g.127824479G>A | CA2579461245 | ENG | c.446-33C>T (n.446-33C>T) c.992-33C>T (n.992-33C>T) | gnomAD v4 |
| 9 | g.127824479_127824490delinsGTCACTGTGTGA | CA1879972863 | ENG | c.446-44_446-33delinsTCACACAGTGAC (n.446-44_446-33delinsTCACACAGTGAC) c.992-44_992-33delinsTCACACAGTGAC (n.992-44_992-33delinsTCACACAGTGAC) | |
| 9 | g.127824490_127824500dup | CA590939415 | ENG | c.446-44_446-34dup (n.446-44_446-34dup) c.992-44_992-34dup (n.992-44_992-34dup) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127824490_127824500del | CA5252909 | ENG | c.446-44_446-34del (n.446-44_446-34del) c.992-44_992-34del (n.992-44_992-34del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824481C>A | CA2691807767 | ENG | c.446-35G>T (n.446-35G>T) c.992-35G>T (n.992-35G>T) | gnomAD v4 |
| 9 | g.127824481C>T | CA2691807771 | ENG | c.446-35G>A (n.446-35G>A) c.992-35G>A (n.992-35G>A) | gnomAD v4 |
| 9 | g.127824482A>C | CA2579461246 | ENG | c.446-36T>G (n.446-36T>G) c.992-36T>G (n.992-36T>G) | gnomAD v4 |
| 9 | g.127824483C>G | CA467230891 | ENG | c.446-37G>C (n.446-37G>C) c.992-37G>C (n.992-37G>C) | gnomAD v4 |
| 9 | g.127824484T>G | CA2691807776 | ENG | c.446-38A>C (n.446-38A>C) c.992-38A>C (n.992-38A>C) | gnomAD v4 |
| 9 | g.127824488_127824489del | CA2691807774 | ENG | c.446-39_446-38del (n.446-39_446-38del) c.992-39_992-38del (n.992-39_992-38del) | gnomAD v4 |
| 9 | g.127824485G>A | CA200312736 | ENG | c.446-39C>T (n.446-39C>T) c.992-39C>T (n.992-39C>T) | dbSNP gnomAD v4 |
| 9 | g.127824485G= | CA1879972868 | ENG | c.446-39C= (n.446-39C=) c.992-39C= (n.992-39C=) | |
| 9 | g.127824485G>T | CA2579461247 | ENG | c.446-39C>A (n.446-39C>A) c.992-39C>A (n.992-39C>A) | gnomAD v4 |
| 9 | g.127824486T>C | CA200312741 | ENG | c.446-40A>G (n.446-40A>G) c.992-40A>G (n.992-40A>G) | dbSNP gnomAD v4 |
| 9 | g.127824486T= | CA1879972872 | ENG | c.446-40A= (n.446-40A=) c.992-40A= (n.992-40A=) | |
| 9 | g.127824487G>A | CA1879972881 | ENG | c.446-41C>T (n.446-41C>T) c.992-41C>T (n.992-41C>T) | dbSNP gnomAD v4 |
| 9 | g.127824487G= | CA1879972878 | ENG | c.446-41C= (n.446-41C=) c.992-41C= (n.992-41C=) | |
| 9 | g.127824487G>T | CA2579461248 | ENG | c.446-41C>A (n.446-41C>A) c.992-41C>A (n.992-41C>A) | gnomAD v4 |
| 9 | g.127824489G>A | CA2579461249 | ENG | c.446-43C>T (n.446-43C>T) c.992-43C>T (n.992-43C>T) | gnomAD v4 |
| 9 | g.127824489G>C | CA2691807789 | ENG | c.446-43C>G (n.446-43C>G) c.992-43C>G (n.992-43C>G) | gnomAD v4 |
| 9 | g.127824489G>T | CA2579461250 | ENG | c.446-43C>A (n.446-43C>A) c.992-43C>A (n.992-43C>A) | gnomAD v4 |
| 9 | g.127824490A>C | CA2579461251 | ENG | c.446-44T>G (n.446-44T>G) c.992-44T>G (n.992-44T>G) | |
| 9 | g.127824490A>G | CA2579461252 | ENG | c.446-44T>C (n.446-44T>C) c.992-44T>C (n.992-44T>C) | |
| 9 | g.127824490A>T | CA2579461253 | ENG | c.446-44T>A (n.446-44T>A) c.992-44T>A (n.992-44T>A) | gnomAD v4 |
| 9 | g.127824491T>C | CA5252910 | ENG | c.446-45A>G (n.446-45A>G) c.992-45A>G (n.992-45A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127824491T= | CA1879972884 | ENG | c.446-45A= (n.446-45A=) c.992-45A= (n.992-45A=) | |
| 9 | g.127824492C>A | CA2691807793 | ENG | c.446-46G>T (n.446-46G>T) c.992-46G>T (n.992-46G>T) | gnomAD v4 |
| 9 | g.127824492C= | CA1879972886 | ENG | c.446-46G= (n.446-46G=) c.992-46G= (n.992-46G=) | |
| 9 | g.127824492C>G | CA1129279227 | ENG | c.446-46G>C (n.446-46G>C) c.992-46G>C (n.992-46G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127824493A= | CA1879972888 | ENG | c.446-47T= (n.446-47T=) c.992-47T= (n.992-47T=) | |
| 9 | g.127824493A>C | CA2691807795 | ENG | c.446-47T>G (n.446-47T>G) c.992-47T>G (n.992-47T>G) | gnomAD v4 |
| 9 | g.127824493A>G | CA1879972889 | ENG | c.446-47T>C (n.446-47T>C) c.992-47T>C (n.992-47T>C) | dbSNP |
| 9 | g.127824493_127824494insG | CA2691807800 | ENG | c.446-48_446-47insC (n.446-48_446-47insC) c.992-48_992-47insC (n.992-48_992-47insC) | gnomAD v4 |
| 9 | g.127824494C>A | CA2691807798 | ENG | c.446-48G>T (n.446-48G>T) c.992-48G>T (n.992-48G>T) | gnomAD v4 |
| 9 | g.127824494C>T | CA2691807797 | ENG | c.446-48G>A (n.446-48G>A) c.992-48G>A (n.992-48G>A) | gnomAD v4 |
| 9 | g.127824495T>A | CA2691807804 | ENG | c.446-49A>T (n.446-49A>T) c.992-49A>T (n.992-49A>T) | gnomAD v4 |
| 9 | g.127824495T>C | CA2579461254 | ENG | c.446-49A>G (n.446-49A>G) c.992-49A>G (n.992-49A>G) | |
| 9 | g.127824495T>G | CA2691807803 | ENG | c.446-49A>C (n.446-49A>C) c.992-49A>C (n.992-49A>C) | gnomAD v4 |
| 9 | g.127824499_127824500del | CA2691807802 | ENG | c.446-50_446-49del (n.446-50_446-49del) c.992-50_992-49del (n.992-50_992-49del) | gnomAD v4 |
| 9 | g.127824496G>A | CA590939416 | ENG | c.446-50C>T (n.446-50C>T) c.992-50C>T (n.992-50C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824496G>C | CA860196576 | ENG | c.446-50C>G (n.446-50C>G) c.992-50C>G (n.992-50C>G) | dbSNP gnomAD v4 |
| 9 | g.127824496G= | CA1879972891 | ENG | c.446-50C= (n.446-50C=) c.992-50C= (n.992-50C=) | |
| 9 | g.127824496G>T | CA1879972894 | ENG | c.446-50C>A (n.446-50C>A) c.992-50C>A (n.992-50C>A) | dbSNP gnomAD v4 |
| 9 | g.127824497T>A | CA2691807812 | ENG | c.446-51A>T (n.446-51A>T) c.992-51A>T (n.992-51A>T) | gnomAD v4 |
| 9 | g.127824497T>G | CA2691807813 | ENG | c.446-51A>C (n.446-51A>C) c.992-51A>C (n.992-51A>C) | gnomAD v4 |
| 9 | g.127824498G>C | CA2691807815 | ENG | c.446-52C>G (n.446-52C>G) c.992-52C>G (n.992-52C>G) | gnomAD v4 |
| 9 | g.127824498G>T | CA2691807817 | ENG | c.446-52C>A (n.446-52C>A) c.992-52C>A (n.992-52C>A) | gnomAD v4 |
| 9 | g.127824499T>G | CA200312760 | ENG | c.446-53A>C (n.446-53A>C) c.992-53A>C (n.992-53A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127824499T= | CA1879972896 | ENG | c.446-53A= (n.446-53A=) c.992-53A= (n.992-53A=) | |
| 9 | g.127824500G>A | CA2691807821 | ENG | c.446-54C>T (n.446-54C>T) c.992-54C>T (n.992-54C>T) | gnomAD v4 |
| 9 | g.127824500G>T | CA2579461255 | ENG | c.446-54C>A (n.446-54C>A) c.992-54C>A (n.992-54C>A) | gnomAD v4 |
| 9 | g.127824501C>A | CA2691807826 | ENG | c.446-55G>T (n.446-55G>T) c.992-55G>T (n.992-55G>T) | gnomAD v4 |
| 9 | g.127824501C>T | CA2691807827 | ENG | c.446-55G>A (n.446-55G>A) c.992-55G>A (n.992-55G>A) | gnomAD v4 |
| 9 | g.127824503del | CA2691807824 | ENG | c.446-55del (n.446-55del) c.992-55del (n.992-55del) | gnomAD v4 |
| 9 | g.127824502C>A | CA2579461256 | ENG | c.446-56G>T (n.446-56G>T) c.992-56G>T (n.992-56G>T) | gnomAD v4 |
| 9 | g.127824502C= | CA1879972901 | ENG | c.446-56G= (n.446-56G=) c.992-56G= (n.992-56G=) | |
| 9 | g.127824502C>T | CA1879972899 | ENG | c.446-56G>A (n.446-56G>A) c.992-56G>A (n.992-56G>A) | dbSNP gnomAD v4 |
| 9 | g.127824503C>A | CA2691807830 | ENG | c.446-57G>T (n.446-57G>T) c.992-57G>T (n.992-57G>T) | gnomAD v4 |
| 9 | g.127824503C= | CA1879972904 | ENG | c.446-57G= (n.446-57G=) c.992-57G= (n.992-57G=) | |
| 9 | g.127824503C>G | CA1879972905 | ENG | c.446-57G>C (n.446-57G>C) c.992-57G>C (n.992-57G>C) | dbSNP gnomAD v4 |
| 9 | g.127824503C>T | CA200312764 | ENG | c.446-57G>A (n.446-57G>A) c.992-57G>A (n.992-57G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824504G>A | CA200312768 | ENG | c.446-58C>T (n.446-58C>T) c.992-58C>T (n.992-58C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824504G>C | CA2691807831 | ENG | c.446-58C>G (n.446-58C>G) c.992-58C>G (n.992-58C>G) | dbSNP gnomAD v4 |
| 9 | g.127824504G= | CA1879972907 | ENG | c.446-58C= (n.446-58C=) c.992-58C= (n.992-58C=) | |
| 9 | g.127824504G>T | CA2691807832 | ENG | c.446-58C>A (n.446-58C>A) c.992-58C>A (n.992-58C>A) | gnomAD v4 |
| 9 | g.127824505C>A | CA2691807833 | ENG | c.446-59G>T (n.446-59G>T) c.992-59G>T (n.992-59G>T) | gnomAD v4 |
| 9 | g.127824505C= | CA1879972909 | ENG | c.446-59G= (n.446-59G=) c.992-59G= (n.992-59G=) | |
| 9 | g.127824505C>G | CA2691807834 | ENG | c.446-59G>C (n.446-59G>C) c.992-59G>C (n.992-59G>C) | gnomAD v4 |
| 9 | g.127824505C>T | CA590939417 | ENG | c.446-59G>A (n.446-59G>A) c.992-59G>A (n.992-59G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824506A= | CA1879972912 | ENG | c.446-60T= (n.446-60T=) c.992-60T= (n.992-60T=) | |
| 9 | g.127824506A>C | CA200312769 | ENG | c.446-60T>G (n.446-60T>G) c.992-60T>G (n.992-60T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127824506A>G | CA2691807836 | ENG | c.446-60T>C (n.446-60T>C) c.992-60T>C (n.992-60T>C) | gnomAD v4 |
| 9 | g.127824506A>T | CA2691807837 | ENG | c.446-60T>A (n.446-60T>A) c.992-60T>A (n.992-60T>A) | gnomAD v4 |
| 9 | g.127824507C>A | CA2691807843 | ENG | c.446-61G>T (n.446-61G>T) c.992-61G>T (n.992-61G>T) | gnomAD v4 |
| 9 | g.127824507C= | CA1879972914 | ENG | c.446-61G= (n.446-61G=) c.992-61G= (n.992-61G=) | |
| 9 | g.127824507C>G | CA2691807842 | ENG | c.446-61G>C (n.446-61G>C) c.992-61G>C (n.992-61G>C) | gnomAD v4 |
| 9 | g.127824507C>T | CA1879972915 | ENG | c.446-61G>A (n.446-61G>A) c.992-61G>A (n.992-61G>A) | dbSNP gnomAD v4 |
| 9 | g.127824508del | CA2691807845 | ENG | c.446-61del (n.446-61del) c.992-61del (n.992-61del) | gnomAD v4 |
| 9 | g.127824508C>A | CA2691807847 | ENG | c.446-62G>T (n.446-62G>T) c.992-62G>T (n.992-62G>T) | gnomAD v4 |
| 9 | g.127824508C>G | CA2691807848 | ENG | c.446-62G>C (n.446-62G>C) c.992-62G>C (n.992-62G>C) | gnomAD v4 |
| 9 | g.127824508C>T | CA2691807849 | ENG | c.446-62G>A (n.446-62G>A) c.992-62G>A (n.992-62G>A) | gnomAD v4 |
| 9 | g.127824509A>C | CA2579461257 | ENG | c.446-63T>G (n.446-63T>G) c.992-63T>G (n.992-63T>G) | gnomAD v4 |
| 9 | g.127824509A>G | CA1129279232 | ENG | c.446-63T>C (n.446-63T>C) c.992-63T>C (n.992-63T>C) | gnomAD v3 gnomAD v4 |
| 9 | g.127824509A>T | CA2691807853 | ENG | c.446-63T>A (n.446-63T>A) c.992-63T>A (n.992-63T>A) | gnomAD v4 |
| 9 | g.127824509_127824510insT | CA2691807855 | ENG | c.446-64_446-63insA (n.446-64_446-63insA) c.992-64_992-63insA (n.992-64_992-63insA) | gnomAD v4 |
| 9 | g.127824510G>C | CA860196580 | ENG | c.446-64C>G (n.446-64C>G) c.992-64C>G (n.992-64C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127824510G= | CA1879972917 | ENG | c.446-64C= (n.446-64C=) c.992-64C= (n.992-64C=) | |
| 9 | g.127824510G>T | CA1879972920 | ENG | c.446-64C>A (n.446-64C>A) c.992-64C>A (n.992-64C>A) | dbSNP gnomAD v4 |
| 9 | g.127824511dup | CA2579461258 | ENG | c.446-64dup (n.446-64dup) c.992-64dup (n.992-64dup) | gnomAD v4 |
| 9 | g.127824510_127824525del | CA2691807857 | ENG | c.446-79_446-64del (n.446-79_446-64del) c.992-79_992-64del (n.992-79_992-64del) | gnomAD v4 |
| 9 | g.127824511G>A | CA2691807862 | ENG | c.446-65C>T (n.446-65C>T) c.992-65C>T (n.992-65C>T) | gnomAD v4 |
| 9 | g.127824511G= | CA1879972922 | ENG | c.446-65C= (n.446-65C=) c.992-65C= (n.992-65C=) | |
| 9 | g.127824511G>T | CA2691807865 | ENG | c.446-65C>A (n.446-65C>A) c.992-65C>A (n.992-65C>A) | gnomAD v4 |
| 9 | g.127824511_127824512delinsGC | CA1879972923 | ENG | c.446-66_446-65delinsGC (n.446-66_446-65delinsGC) c.992-66_992-65delinsGC (n.992-66_992-65delinsGC) | |
| 9 | g.127824511_127824512insA | CA2691807902 | ENG | c.446-66_446-65insT (n.446-66_446-65insT) c.992-66_992-65insT (n.992-66_992-65insT) | gnomAD v4 |
| 9 | g.127824511_127824512insT | CA1129279238 | ENG | c.446-66_446-65insA (n.446-66_446-65insA) c.992-66_992-65insA (n.992-66_992-65insA) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127824511_127824512insAT | CA2691807906 | ENG | c.446-66_446-65insAT (n.446-66_446-65insAT) c.992-66_992-65insAT (n.992-66_992-65insAT) | gnomAD v4 |
| 9 | g.127824511_127824512insGT | CA2579461259 | ENG | c.446-66_446-65insAC (n.446-66_446-65insAC) c.992-66_992-65insAC (n.992-66_992-65insAC) | gnomAD v4 |
| 9 | g.127824511_127824512insTT | CA1129279264 | ENG | c.446-66_446-65insAA (n.446-66_446-65insAA) c.992-66_992-65insAA (n.992-66_992-65insAA) | gnomAD v3 gnomAD v4 |
| 9 | g.127824511_127824512insATT | CA2691807910 | ENG | c.446-66_446-65insAAT (n.446-66_446-65insAAT) c.992-66_992-65insAAT (n.992-66_992-65insAAT) | gnomAD v4 |
| 9 | g.127824511_127824512insGTT | CA2691807913 | ENG | c.446-66_446-65insAAC (n.446-66_446-65insAAC) c.992-66_992-65insAAC (n.992-66_992-65insAAC) | gnomAD v4 |
| 9 | g.127824511_127824512insTTT | CA2691807903 | ENG | c.446-66_446-65insAAA (n.446-66_446-65insAAA) c.992-66_992-65insAAA (n.992-66_992-65insAAA) | gnomAD v4 |
| 9 | g.127824511_127824512insGTTT | CA2691807914 | ENG | c.446-66_446-65insAAAC (n.446-66_446-65insAAAC) c.992-66_992-65insAAAC (n.992-66_992-65insAAAC) | gnomAD v4 |
| 9 | g.127824511_127824512insTTTT | CA2691807900 | ENG | c.446-66_446-65insAAAA (n.446-66_446-65insAAAA) c.992-66_992-65insAAAA (n.992-66_992-65insAAAA) | gnomAD v4 |
| 9 | g.127824511_127824512insTTTTT | CA2691807898 | ENG | c.446-66_446-65insAAAAA (n.446-66_446-65insAAAAA) c.992-66_992-65insAAAAA (n.992-66_992-65insAAAAA) | gnomAD v4 |
| 9 | g.127824511_127824512insGTTTTT | CA2691807917 | ENG | c.446-66_446-65insAAAAAC (n.446-66_446-65insAAAAAC) c.992-66_992-65insAAAAAC (n.992-66_992-65insAAAAAC) | gnomAD v4 |
| 9 | g.127824512del | CA860196583 | ENG | c.446-66del (n.446-66del) c.992-66del (n.992-66del) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127824512C>A | CA2691807879 | ENG | c.446-66G>T (n.446-66G>T) c.992-66G>T (n.992-66G>T) | gnomAD v4 |
| 9 | g.127824512C= | CA1879972932 | ENG | c.446-66G= (n.446-66G=) c.992-66G= (n.992-66G=) | |
| 9 | g.127824512C>G | CA2691807885 | ENG | c.446-66G>C (n.446-66G>C) c.992-66G>C (n.992-66G>C) | gnomAD v4 |
| 9 | g.127824512C>T | CA653542269 | ENG | c.446-66G>A (n.446-66G>A) c.992-66G>A (n.992-66G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127824512_127824513del | CA2691807891 | ENG | c.446-67_446-66del (n.446-67_446-66del) c.992-67_992-66del (n.992-67_992-66del) | gnomAD v4 |
| 9 | g.127824512_127824513dup | CA2785996378 | ENG | c.446-67_446-66dup (n.446-67_446-66dup) c.992-67_992-66dup (n.992-67_992-66dup) | |
| 9 | g.127824512_127824514del | CA2691807889 | ENG | c.446-68_446-66del (n.446-68_446-66del) c.992-68_992-66del (n.992-68_992-66del) | gnomAD v4 |
| 9 | g.127824512_127824515del | CA2691807887 | ENG | c.446-69_446-66del (n.446-69_446-66del) c.992-69_992-66del (n.992-69_992-66del) | gnomAD v4 |
| 9 | g.127824512_127824528delinsCTTTTTTTTTTTTTTTT | CA1879972929 | ENG | c.446-82_446-66delinsAAAAAAAAAAAAAAAAG (n.446-82_446-66delinsAAAAAAAAAAAAAAAAG) c.992-82_992-66delinsAAAAAAAAAAAAAAAAG (n.992-82_992-66delinsAAAAAAAAAAAAAAAAG) |