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.127824377_127824409delinsAGCTCCGGGCTACAAGTGTCCTTGGGAGGAGTG | CA1879972619 | ENG | c.483_515delinsCACTCCTCCCAAGGACACTTGTAGCCCGGAGCT (p.Thr161=) c.1029_1061delinsCACTCCTCCCAAGGACACTTGTAGCCCGGAGCT (p.Thr343=) | |
| 9 | g.127824378_127824409delinsCCACCAT | CA16612700 | ENG | c.483_514delinsATGGTGG (p.Thr162TrpfsTer7) c.1029_1060delinsATGGTGG (p.Thr344TrpfsTer7) | ClinVar dbSNP |
| 9 | g.127824384_127824396del | CA2580079627 | ENG | c.496_508del (p.Asp166ArgfsTer7) c.1042_1054del (p.Asp348ArgfsTer7) n.10_22del | ClinVar |
| 9 | g.127824386C>A | CA374981555 | ENG | c.506G>T (p.Ser169Ile) c.1052G>T (p.Ser351Ile) n.20G>T | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.127824386C= | CA1879972659 | ENG | c.506G= (p.Ser169=) c.1052G= (p.Ser351=) n.20G= | |
| 9 | g.127824386C>G | CA374981557 | ENG | c.506G>C (p.Ser169Thr) c.1052G>C (p.Ser351Thr) n.20G>C | |
| 9 | g.127824386C>T | CA374981559 | ENG | c.506G>A (p.Ser169Asn) c.1052G>A (p.Ser351Asn) n.20G>A | dbSNP |
| 9 | g.127824386_127824387del | CA2739265074 | ENG | c.505_506del (p.Ser169ProfsTer?) c.1051_1052del (p.Ser351ProfsTer?) n.19_20del | ClinVar |
| 9 | g.127824387T>A | CA374981563 | ENG | c.505A>T (p.Ser169Cys) c.1051A>T (p.Ser351Cys) n.19A>T | |
| 9 | g.127824387T>C | CA374981573 | ENG | c.505A>G (p.Ser169Gly) c.1051A>G (p.Ser351Gly) n.19A>G | gnomAD v4 |
| 9 | g.127824387T>G | CA374981576 | ENG | c.505A>C (p.Ser169Arg) c.1051A>C (p.Ser351Arg) n.19A>C | |
| 9 | g.127824388A>C | CA374981581 | ENG | c.504T>G (p.Cys168Trp) c.1050T>G (p.Cys350Trp) n.18T>G | |
| 9 | g.127824388A>G | CA467230816 | ENG | c.504T>C (p.Cys168=) c.1050T>C (p.Cys350=) n.18T>C | ClinVar dbSNP gnomAD v4 |
| 9 | g.127824388A>T | CA374981583 | ENG | c.504T>A (p.Cys168Ter) c.1050T>A (p.Cys350Ter) n.18T>A | |
| 9 | g.127824389C>A | CA374981591 | ENG | c.503G>T (p.Cys168Phe) c.1049G>T (p.Cys350Phe) n.17G>T | |
| 9 | g.127824389C>G | CA374981588 | ENG | c.503G>C (p.Cys168Ser) c.1049G>C (p.Cys350Ser) n.17G>C | |
| 9 | g.127824389C>T | CA374981586 | ENG | c.503G>A (p.Cys168Tyr) c.1049G>A (p.Cys350Tyr) n.17G>A | |
| 9 | g.127824390A>C | CA374981595 | ENG | c.502T>G (p.Cys168Gly) c.1048T>G (p.Cys350Gly) n.16T>G | |
| 9 | g.127824390A>G | CA374981598 | ENG | c.502T>C (p.Cys168Arg) c.1048T>C (p.Cys350Arg) n.16T>C | |
| 9 | g.127824390A>T | CA374981601 | ENG | c.502T>A (p.Cys168Ser) c.1048T>A (p.Cys350Ser) n.16T>A | |
| 9 | g.127824390_127824391dup | CA2695211238 | ENG | c.501_502dup (p.Cys168PhefsTer10) c.1047_1048dup (p.Cys350PhefsTer10) n.15_16dup | |
| 9 | g.127824391A= | CA1879972662 | ENG | c.501T= (p.Thr167=) c.1047T= (p.Thr349=) n.15T= | |
| 9 | g.127824391A>C | CA467230818 | ENG | c.501T>G (p.Thr167=) c.1047T>G (p.Thr349=) n.15T>G | |
| 9 | g.127824391A>G | CA467230819 | ENG | c.501T>C (p.Thr167=) c.1047T>C (p.Thr349=) n.15T>C | ClinVar dbSNP gnomAD v4 |
| 9 | g.127824391A>T | CA467230820 | ENG | c.501T>A (p.Thr167=) c.1047T>A (p.Thr349=) n.15T>A | |
| 9 | g.127824392G>A | CA374981605 | ENG | c.500C>T (p.Thr167Ile) c.1046C>T (p.Thr349Ile) n.14C>T | |
| 9 | g.127824392G>C | CA374981608 | ENG | c.500C>G (p.Thr167Ser) c.1046C>G (p.Thr349Ser) n.14C>G | |
| 9 | g.127824392G>T | CA374981611 | ENG | c.500C>A (p.Thr167Asn) c.1046C>A (p.Thr349Asn) n.14C>A | |
| 9 | g.127824396_127824499del | CA2580079628 | ENG | c.446-49_500del c.992-49_1046del | ClinVar |
| 9 | g.127824393T>A | CA374981613 | ENG | c.499A>T (p.Thr167Ser) c.1045A>T (p.Thr349Ser) n.13A>T | |
| 9 | g.127824393T>C | CA374981615 | ENG | c.499A>G (p.Thr167Ala) c.1045A>G (p.Thr349Ala) n.13A>G | dbSNP |
| 9 | g.127824393T>G | CA374981617 | ENG | c.499A>C (p.Thr167Pro) c.1045A>C (p.Thr349Pro) n.13A>C | |
| 9 | g.127824393T= | CA1879972665 | ENG | c.499A= (p.Thr167=) c.1045A= (p.Thr349=) n.13A= | |
| 9 | g.127824394G>A | CA467230821 | ENG | c.498C>T (p.Asp166=) c.1044C>T (p.Asp348=) n.12C>T | gnomAD v4 |
| 9 | g.127824394G>C | CA374981622 | ENG | c.498C>G (p.Asp166Glu) c.1044C>G (p.Asp348Glu) n.12C>G | |
| 9 | g.127824394G>T | CA374981624 | ENG | c.498C>A (p.Asp166Glu) c.1044C>A (p.Asp348Glu) n.12C>A | |
| 9 | g.127824395T>A | CA374981630 | ENG | c.497A>T (p.Asp166Val) c.1043A>T (p.Asp348Val) n.11A>T | |
| 9 | g.127824395T>C | CA374981629 | ENG | c.497A>G (p.Asp166Gly) c.1043A>G (p.Asp348Gly) n.11A>G | |
| 9 | g.127824395T>G | CA374981627 | ENG | c.497A>C (p.Asp166Ala) c.1043A>C (p.Asp348Ala) n.11A>C | |
| 9 | g.127824396C>A | CA374981632 | ENG | c.496G>T (p.Asp166Tyr) c.1042G>T (p.Asp348Tyr) n.10G>T | |
| 9 | g.127824396C= | CA1879972667 | ENG | c.496G= (p.Asp166=) c.1042G= (p.Asp348=) n.10G= | |
| 9 | g.127824396C>G | CA374981634 | ENG | c.496G>C (p.Asp166His) c.1042G>C (p.Asp348His) n.10G>C | |
| 9 | g.127824396C>T | CA374981636 | ENG | c.496G>A (p.Asp166Asn) c.1042G>A (p.Asp348Asn) n.10G>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127824397del | CA2573143988 | ENG | c.496del (p.Asp166ThrfsTer11) c.1042del (p.Asp348ThrfsTer11) n.10del | ClinVar dbSNP |
| 9 | g.127824397C>A | CA374981637 | ENG | c.495G>T (p.Lys165Asn) c.1041G>T (p.Lys347Asn) n.9G>T | gnomAD v4 |
| 9 | g.127824397C= | CA1879972672 | ENG | c.495G= (p.Lys165=) c.1041G= (p.Lys347=) n.9G= | |
| 9 | g.127824397C>G | CA374981638 | ENG | c.495G>C (p.Lys165Asn) c.1041G>C (p.Lys347Asn) n.9G>C | |
| 9 | g.127824397C>T | CA5252893 | ENG | c.495G>A (p.Lys165=) c.1041G>A (p.Lys347=) n.9G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824398T>A | CA374981641 | ENG | c.494A>T (p.Lys165Met) c.1040A>T (p.Lys347Met) n.8A>T | |
| 9 | g.127824398T>C | CA5252894 | ENG | c.494A>G (p.Lys165Arg) c.1040A>G (p.Lys347Arg) n.8A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824398T>G | CA374981644 | ENG | c.494A>C (p.Lys165Thr) c.1040A>C (p.Lys347Thr) n.8A>C | |
| 9 | g.127824398T= | CA1879972674 | ENG | c.494A= (p.Lys165=) c.1040A= (p.Lys347=) n.8A= | |
| 9 | g.127824399T>A | CA374981647 | ENG | c.493A>T (p.Lys165Ter) c.1039A>T (p.Lys347Ter) n.7A>T | ClinVar dbSNP |
| 9 | g.127824399T>C | CA374981649 | ENG | c.493A>G (p.Lys165Glu) c.1039A>G (p.Lys347Glu) n.7A>G | |
| 9 | g.127824399T>G | CA374981650 | ENG | c.493A>C (p.Lys165Gln) c.1039A>C (p.Lys347Gln) n.7A>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127824399T= | CA1879972681 | ENG | c.493A= (p.Lys165=) c.1039A= (p.Lys347=) n.7A= | |
| 9 | g.127824400G>A | CA467230828 | ENG | c.492C>T (p.Pro164=) c.1038C>T (p.Pro346=) n.6C>T | |
| 9 | g.127824400G>C | CA467230829 | ENG | c.492C>G (p.Pro164=) c.1038C>G (p.Pro346=) n.6C>G | |
| 9 | g.127824400G>T | CA467230830 | ENG | c.492C>A (p.Pro164=) c.1038C>A (p.Pro346=) n.6C>A | COSMIC COSMIC |
| 9 | g.127824401G>A | CA374981656 | ENG | c.491C>T (p.Pro164Leu) c.1037C>T (p.Pro346Leu) n.5C>T | dbSNP |
| 9 | g.127824401G>C | CA374981654 | ENG | c.491C>G (p.Pro164Arg) c.1037C>G (p.Pro346Arg) n.5C>G | |
| 9 | g.127824401G= | CA1879972685 | ENG | c.491C= (p.Pro164=) c.1037C= (p.Pro346=) n.5C= | |
| 9 | g.127824401G>T | CA374981652 | ENG | c.491C>A (p.Pro164His) c.1037C>A (p.Pro346His) n.5C>A | |
| 9 | g.127824402G>A | CA374981658 | ENG | c.490C>T (p.Pro164Ser) c.1036C>T (p.Pro346Ser) n.4C>T | ClinVar dbSNP |
| 9 | g.127824402G>C | CA374981662 | ENG | c.490C>G (p.Pro164Ala) c.1036C>G (p.Pro346Ala) n.4C>G | |
| 9 | g.127824402G= | CA1879972690 | ENG | c.490C= (p.Pro164=) c.1036C= (p.Pro346=) n.4C= | |
| 9 | g.127824402G>T | CA374981660 | ENG | c.490C>A (p.Pro164Thr) c.1036C>A (p.Pro346Thr) n.4C>A | |
| 9 | g.127824403A>C | CA467230833 | ENG | c.489T>G (p.Pro163=) c.1035T>G (p.Pro345=) n.3T>G | |
| 9 | g.127824403A>G | CA467230834 | ENG | c.489T>C (p.Pro163=) c.1035T>C (p.Pro345=) n.3T>C | |
| 9 | g.127824403A>T | CA467230836 | ENG | c.489T>A (p.Pro163=) c.1035T>A (p.Pro345=) n.3T>A | |
| 9 | g.127824404G>A | CA374981664 | ENG | c.488C>T (p.Pro163Leu) c.1034C>T (p.Pro345Leu) n.2C>T | |
| 9 | g.127824404G>C | CA374981666 | ENG | c.488C>G (p.Pro163Arg) c.1034C>G (p.Pro345Arg) n.2C>G | |
| 9 | g.127824404G>T | CA374981668 | ENG | c.488C>A (p.Pro163His) c.1034C>A (p.Pro345His) n.2C>A | |
| 9 | g.127824405G>A | CA374981670 | ENG | c.487C>T (p.Pro163Ser) c.1033C>T (p.Pro345Ser) n.1C>T | |
| 9 | g.127824405G>C | CA374981672 | ENG | c.487C>G (p.Pro163Ala) c.1033C>G (p.Pro345Ala) n.1C>G | |
| 9 | g.127824405G>T | CA374981674 | ENG | c.487C>A (p.Pro163Thr) c.1033C>A (p.Pro345Thr) n.1C>A | gnomAD v4 COSMIC COSMIC |
| 9 | g.127824406A>C | CA467230839 | ENG | c.486T>G (p.Thr162=) c.1032T>G (p.Thr344=) | |
| 9 | g.127824406A>G | CA467230838 | ENG | c.486T>C (p.Thr162=) c.1032T>C (p.Thr344=) | |
| 9 | g.127824406A>T | CA467230837 | ENG | c.486T>A (p.Thr162=) c.1032T>A (p.Thr344=) | |
| 9 | g.127824407G>A | CA374981676 | ENG | c.485C>T (p.Thr162Ile) c.1031C>T (p.Thr344Ile) | |
| 9 | g.127824407G>C | CA374981678 | ENG | c.485C>G (p.Thr162Ser) c.1031C>G (p.Thr344Ser) | |
| 9 | g.127824407G>T | CA374981679 | ENG | c.485C>A (p.Thr162Asn) c.1031C>A (p.Thr344Asn) | |
| 9 | g.127824408T>A | CA374981680 | ENG | c.484A>T (p.Thr162Ser) c.1030A>T (p.Thr344Ser) | |
| 9 | g.127824408T>C | CA374981682 | ENG | c.484A>G (p.Thr162Ala) c.1030A>G (p.Thr344Ala) | |
| 9 | g.127824408T>G | CA374981684 | ENG | c.484A>C (p.Thr162Pro) c.1030A>C (p.Thr344Pro) | |
| 9 | g.127824408_127824409delinsGA | CA2499219637 | ENG | c.483_484delinsTC (p.Thr162Pro) c.1029_1030delinsTC (p.Thr344Pro) | ClinVar dbSNP |
| 9 | g.127824408_127824429delinsTGGTCTGGATCGGTGCGGGTGA | CA1879972697 | ENG | c.463_484delinsTCACCCGCACCGATCCAGACCA (p.Ser155=) c.1009_1030delinsTCACCCGCACCGATCCAGACCA (p.Ser337=) | |
| 9 | g.127824409G>A | CA295805 | ENG | c.483C>T (p.Thr161=) c.1029C>T (p.Thr343=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824409G>C | CA467230843 | ENG | c.483C>G (p.Thr161=) c.1029C>G (p.Thr343=) | |
| 9 | g.127824409G= | CA1879972702 | ENG | c.483C= (p.Thr161=) c.1029C= (p.Thr343=) | |
| 9 | g.127824409G>T | CA467230844 | ENG | c.483C>A (p.Thr161=) c.1029C>A (p.Thr343=) | |
| 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.127824410G>A | CA374981688 | ENG | c.482C>T (p.Thr161Ile) c.1028C>T (p.Thr343Ile) | |
| 9 | g.127824410G>C | CA374981689 | ENG | c.482C>G (p.Thr161Ser) c.1028C>G (p.Thr343Ser) | |
| 9 | g.127824410G= | CA1879972709 | ENG | c.482C= (p.Thr161=) c.1028C= (p.Thr343=) | |
| 9 | g.127824410G>T | CA200312657 | ENG | c.482C>A (p.Thr161Asn) c.1028C>A (p.Thr343Asn) | dbSNP |
| 9 | g.127824411T>A | CA374981693 | ENG | c.481A>T (p.Thr161Ser) c.1027A>T (p.Thr343Ser) | |
| 9 | g.127824411T>C | CA374981694 | ENG | c.481A>G (p.Thr161Ala) c.1027A>G (p.Thr343Ala) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127824411T>G | CA374981695 | ENG | c.481A>C (p.Thr161Pro) c.1027A>C (p.Thr343Pro) | |
| 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=) |