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.127824296_127824301del | CA2695211213 | ENG | c.588+4_588+9del (n.588+4_588+9del) c.1134+4_1134+9del (n.1134+4_1134+9del) n.102+4_102+9del | |
9 | g.127824302A>C | CA374980576 | ENG | c.588+2T>G (n.588+2T>G) c.1134+2T>G (n.1134+2T>G) n.102+2T>G | |
9 | g.127824302A>G | CA374980575 | ENG | c.588+2T>C (n.588+2T>C) c.1134+2T>C (n.1134+2T>C) n.102+2T>C | |
9 | g.127824302A>T | CA374980572 | ENG | c.588+2T>A (n.588+2T>A) c.1134+2T>A (n.1134+2T>A) n.102+2T>A | |
9 | g.127824303C>A | CA374980577 | ENG | c.588+1G>T (n.588+1G>T) c.1134+1G>T (n.1134+1G>T) n.102+1G>T | ClinVar |
9 | g.127824303C= | CA1879972398 | ENG | c.588+1G= (n.588+1G=) c.1134+1G= (n.1134+1G=) n.102+1G= | |
9 | g.127824303C>G | CA200312584 | ENG | c.588+1G>C (n.588+1G>C) c.1134+1G>C (n.1134+1G>C) n.102+1G>C | dbSNP |
9 | g.127824303C>T | CA374980580 | ENG | c.588+1G>A (n.588+1G>A) c.1134+1G>A (n.1134+1G>A) n.102+1G>A | ClinVar dbSNP |
9 | g.127824304del | CA2695211217 | ENG | c.588+1del c.1134+1del n.102+1del | |
9 | g.127824304C>A | CA467230559 | ENG | c.588G>T (p.Ala196=) c.1134G>T (p.Ala378=) n.102G>T | |
9 | g.127824304C= | CA1879972403 | ENG | c.588G= (p.Ala196=) c.1134G= (p.Ala378=) n.102G= | |
9 | g.127824304C>G | CA467230560 | ENG | c.588G>C (p.Ala196=) c.1134G>C (p.Ala378=) n.102G>C | ClinVar dbSNP |
9 | g.127824304C>T | CA467230561 | ENG | c.588G>A (p.Ala196=) c.1134G>A (p.Ala378=) n.102G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.127824305G>A | CA5252876 | ENG | c.587C>T (p.Ala196Val) c.1133C>T (p.Ala378Val) n.101C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
9 | g.127824305G>C | CA374980585 | ENG | c.587C>G (p.Ala196Gly) c.1133C>G (p.Ala378Gly) n.101C>G | |
9 | g.127824305G= | CA1879972409 | ENG | c.587C= (p.Ala196=) c.1133C= (p.Ala378=) n.101C= | |
9 | g.127824305G>T | CA374980587 | ENG | c.587C>A (p.Ala196Glu) c.1133C>A (p.Ala378Glu) n.101C>A | gnomAD v4 |
9 | g.127824306C>A | CA374980591 | ENG | c.586G>T (p.Ala196Ser) c.1132G>T (p.Ala378Ser) n.100G>T | gnomAD v4 |
9 | g.127824306C>G | CA374980593 | ENG | c.586G>C (p.Ala196Pro) c.1132G>C (p.Ala378Pro) n.100G>C | |
9 | g.127824306C>T | CA374980599 | ENG | c.586G>A (p.Ala196Thr) c.1132G>A (p.Ala378Thr) n.100G>A | |
9 | g.127824307A>C | CA467230562 | ENG | c.585T>G (p.Val195=) c.1131T>G (p.Val377=) n.99T>G | |
9 | g.127824307A>G | CA467230564 | ENG | c.585T>C (p.Val195=) c.1131T>C (p.Val377=) n.99T>C | |
9 | g.127824307A>T | CA467230563 | ENG | c.585T>A (p.Val195=) c.1131T>A (p.Val377=) n.99T>A | |
9 | g.127824308A= | CA1879972414 | ENG | c.584T= (p.Val195=) c.1130T= (p.Val377=) n.98T= | |
9 | g.127824308A>C | CA374980603 | ENG | c.584T>G (p.Val195Gly) c.1130T>G (p.Val377Gly) n.98T>G | |
9 | g.127824308A>G | CA374980605 | ENG | c.584T>C (p.Val195Ala) c.1130T>C (p.Val377Ala) n.98T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
9 | g.127824308A>T | CA374980608 | ENG | c.584T>A (p.Val195Asp) c.1130T>A (p.Val377Asp) n.98T>A | |
9 | g.127824309C>A | CA374980614 | ENG | c.583G>T (p.Val195Phe) c.1129G>T (p.Val377Phe) n.97G>T | |
9 | g.127824309C>G | CA374980612 | ENG | c.583G>C (p.Val195Leu) c.1129G>C (p.Val377Leu) n.97G>C | gnomAD v4 |
9 | g.127824309C>T | CA374980610 | ENG | c.583G>A (p.Val195Ile) c.1129G>A (p.Val377Ile) n.97G>A | |
9 | g.127824310A= | CA1879972417 | ENG | c.582T= (p.Leu194=) c.1128T= (p.Leu376=) n.96T= | |
9 | g.127824310A>C | CA467230567 | ENG | c.582T>G (p.Leu194=) c.1128T>G (p.Leu376=) n.96T>G | |
9 | g.127824310A>G | CA467230568 | ENG | c.582T>C (p.Leu194=) c.1128T>C (p.Leu376=) n.96T>C | dbSNP |
9 | g.127824310A>T | CA467230569 | ENG | c.582T>A (p.Leu194=) c.1128T>A (p.Leu376=) n.96T>A | |
9 | g.127824311dup | CA2695211220 | ENG | c.582dup (p.Val195CysfsTer19) c.1128dup (p.Val377CysfsTer19) n.96dup | |
9 | g.127824311A>C | CA374980615 | ENG | c.581T>G (p.Leu194Arg) c.1127T>G (p.Leu376Arg) n.95T>G | |
9 | g.127824311A>G | CA374980618 | ENG | c.581T>C (p.Leu194Pro) c.1127T>C (p.Leu376Pro) n.95T>C | |
9 | g.127824311A>T | CA374980621 | ENG | c.581T>A (p.Leu194His) c.1127T>A (p.Leu376His) n.95T>A | |
9 | g.127824312G>A | CA374980624 | ENG | c.580C>T (p.Leu194Phe) c.1126C>T (p.Leu376Phe) n.94C>T | gnomAD v4 |
9 | g.127824312G>C | CA374980626 | ENG | c.580C>G (p.Leu194Val) c.1126C>G (p.Leu376Val) n.94C>G | |
9 | g.127824312G>T | CA374980627 | ENG | c.580C>A (p.Leu194Ile) c.1126C>A (p.Leu376Ile) n.94C>A | |
9 | g.127824312_127824314delinsGCT | CA1879972420 | ENG | c.578_580delinsAGC (p.Glu193=) c.1124_1126delinsAGC (p.Glu375=) n.92_94delinsAGC | |
9 | g.127824313C>A | CA374980631 | ENG | c.579G>T (p.Glu193Asp) c.1125G>T (p.Glu375Asp) n.93G>T | gnomAD v4 |
9 | g.127824313C>G | CA374980633 | ENG | c.579G>C (p.Glu193Asp) c.1125G>C (p.Glu375Asp) n.93G>C | |
9 | g.127824313C>T | CA467230570 | ENG | c.579G>A (p.Glu193=) c.1125G>A (p.Glu375=) n.93G>A | gnomAD v4 |
9 | g.127824313_127824316del | CA2580079617 | ENG | c.576_579del (p.Lys192AsnfsTer6) c.1122_1125del (p.Lys374AsnfsTer6) n.90_93del | ClinVar |
9 | g.127824315_127824316del | CA658656030 | ENG | c.578_579del (p.Glu193AlafsTer20) c.1124_1125del (p.Glu375AlafsTer20) n.92_93del | ClinVar dbSNP |
9 | g.127824313_127824317delinsCTCTT | CA1879972427 | ENG | c.575_579delinsAAGAG (p.Lys192=) c.1121_1125delinsAAGAG (p.Lys374=) n.89_93delinsAAGAG | |
9 | g.127824314T>A | CA374980636 | ENG | c.578A>T (p.Glu193Val) c.1124A>T (p.Glu375Val) n.92A>T | |
9 | g.127824314T>C | CA374980638 | ENG | c.578A>G (p.Glu193Gly) c.1124A>G (p.Glu375Gly) n.92A>G | |
9 | g.127824314T>G | CA374980640 | ENG | c.578A>C (p.Glu193Ala) c.1124A>C (p.Glu375Ala) n.92A>C | |
9 | g.127824319_127824322del | CA16618747 | ENG | c.575_578del (p.Lys192SerfsTer6) c.1121_1124del (p.Lys374SerfsTer6) n.89_92del | ClinVar dbSNP |
9 | g.127824315C>A | CA374980644 | ENG | c.577G>T (p.Glu193Ter) c.1123G>T (p.Glu375Ter) n.91G>T | |
9 | g.127824315C>G | CA374980646 | ENG | c.577G>C (p.Glu193Gln) c.1123G>C (p.Glu375Gln) n.91G>C | |
9 | g.127824315C>T | CA374980647 | ENG | c.577G>A (p.Glu193Lys) c.1123G>A (p.Glu375Lys) n.91G>A | |
9 | g.127824316T>A | CA374980649 | ENG | c.576A>T (p.Lys192Asn) c.1122A>T (p.Lys374Asn) n.90A>T | |
9 | g.127824316T>C | CA467230571 | ENG | c.576A>G (p.Lys192=) c.1122A>G (p.Lys374=) n.90A>G | gnomAD v4 |
9 | g.127824316T>G | CA374980651 | ENG | c.576A>C (p.Lys192Asn) c.1122A>C (p.Lys374Asn) n.90A>C | |
9 | g.127824316_127824317delinsGC | CA913186018 | ENG | c.575_576delinsGC (p.Lys192Ser) c.1121_1122delinsGC (p.Lys374Ser) n.89_90delinsGC | ClinVar dbSNP |
9 | g.127824318dup | CA2573053100 | ENG | c.576dup (p.Glu193ArgfsTer21) c.1122dup (p.Glu375ArgfsTer21) n.90dup | ClinVar dbSNP |
9 | g.127824317T>A | CA374980653 | ENG | c.575A>T (p.Lys192Ile) c.1121A>T (p.Lys374Ile) n.89A>T | |
9 | g.127824317T>C | CA374980655 | ENG | c.575A>G (p.Lys192Arg) c.1121A>G (p.Lys374Arg) n.89A>G | |
9 | g.127824317T>G | CA374980658 | ENG | c.575A>C (p.Lys192Thr) c.1121A>C (p.Lys374Thr) n.89A>C | COSMIC COSMIC |
9 | g.127824318T>A | CA374980661 | ENG | c.574A>T (p.Lys192Ter) c.1120A>T (p.Lys374Ter) n.88A>T | |
9 | g.127824318T>C | CA374980663 | ENG | c.574A>G (p.Lys192Glu) c.1120A>G (p.Lys374Glu) n.88A>G | ClinVar |
9 | g.127824318T>G | CA374980665 | ENG | c.574A>C (p.Lys192Gln) c.1120A>C (p.Lys374Gln) n.88A>C | |
9 | g.127824320_127824342del | CA2695211224 | ENG | c.552_574del (p.Asp184GlufsTer22) c.1098_1120del (p.Asp366GlufsTer22) n.66_88del | |
9 | g.127824319del | CA2691807384 | ENG | c.573del (p.Glu193SerfsTer6) c.1119del (p.Glu375SerfsTer6) n.87del | gnomAD v4 |
9 | g.127824319C>A | CA374980668 | ENG | c.573G>T (p.Lys191Asn) c.1119G>T (p.Lys373Asn) n.87G>T | |
9 | g.127824319C>G | CA374980670 | ENG | c.573G>C (p.Lys191Asn) c.1119G>C (p.Lys373Asn) n.87G>C | |
9 | g.127824319C>T | CA467230574 | ENG | c.573G>A (p.Lys191=) c.1119G>A (p.Lys373=) n.87G>A | |
9 | g.127824320T>A | CA374980673 | ENG | c.572A>T (p.Lys191Met) c.1118A>T (p.Lys373Met) n.86A>T | |
9 | g.127824320T>C | CA374980675 | ENG | c.572A>G (p.Lys191Arg) c.1118A>G (p.Lys373Arg) n.86A>G | |
9 | g.127824320T>G | CA374980677 | ENG | c.572A>C (p.Lys191Thr) c.1118A>C (p.Lys373Thr) n.86A>C | |
9 | g.127824321T>A | CA374980682 | ENG | c.571A>T (p.Lys191Ter) c.1117A>T (p.Lys373Ter) n.85A>T | |
9 | g.127824321T>C | CA374980680 | ENG | c.571A>G (p.Lys191Glu) c.1117A>G (p.Lys373Glu) n.85A>G | |
9 | g.127824321T>G | CA374980678 | ENG | c.571A>C (p.Lys191Gln) c.1117A>C (p.Lys373Gln) n.85A>C | |
9 | g.127824321_127824322insA | CA2695211225 | ENG | c.570_571insT (p.Lys191Ter) c.1116_1117insT (p.Lys373Ter) n.84_85insT | |
9 | g.127824322T>A | CA467230575 | ENG | c.570A>T (p.Leu190=) c.1116A>T (p.Leu372=) n.84A>T | |
9 | g.127824322T>C | CA467230576 | ENG | c.570A>G (p.Leu190=) c.1116A>G (p.Leu372=) n.84A>G | |
9 | g.127824322T>G | CA467230577 | ENG | c.570A>C (p.Leu190=) c.1116A>C (p.Leu372=) n.84A>C | |
9 | g.127824322T= | CA1879972436 | ENG | c.570A= (p.Leu190=) c.1116A= (p.Leu372=) n.84A= | |
9 | g.127824323A>C | CA374980685 | ENG | c.569T>G (p.Leu190Arg) c.1115T>G (p.Leu372Arg) n.83T>G | |
9 | g.127824323A>G | CA374980689 | ENG | c.569T>C (p.Leu190Pro) c.1115T>C (p.Leu372Pro) n.83T>C | |
9 | g.127824323A>T | CA374980687 | ENG | c.569T>A (p.Leu190Gln) c.1115T>A (p.Leu372Gln) n.83T>A | |
9 | g.127824325_127824330dup | CA1139661204 | ENG | c.564_569dup (p.Leu190_Lys191insValLeu) c.1110_1115dup (p.Leu372_Lys373insValLeu) n.78_83dup | ClinVar dbSNP |
9 | g.127824324G>A | CA467230578 | ENG | c.568C>T (p.Leu190=) c.1114C>T (p.Leu372=) n.82C>T | ClinVar COSMIC |
9 | g.127824324G>C | CA374980692 | ENG | c.568C>G (p.Leu190Val) c.1114C>G (p.Leu372Val) n.82C>G | |
9 | g.127824324G>T | CA374980694 | ENG | c.568C>A (p.Leu190Ile) c.1114C>A (p.Leu372Ile) n.82C>A | |
9 | g.127824325T>A | CA467230579 | ENG | c.567A>T (p.Val189=) c.1113A>T (p.Val371=) n.81A>T | |
9 | g.127824325T>C | CA467230580 | ENG | c.567A>G (p.Val189=) c.1113A>G (p.Val371=) n.81A>G | dbSNP gnomAD v4 |
9 | g.127824325T>G | CA467230582 | ENG | c.567A>C (p.Val189=) c.1113A>C (p.Val371=) n.81A>C | |
9 | g.127824325T= | CA1879972439 | ENG | c.567A= (p.Val189=) c.1113A= (p.Val371=) n.81A= | |
9 | g.127824326A= | CA1879972444 | ENG | c.566T= (p.Val189=) c.1112T= (p.Val371=) n.80T= | |
9 | g.127824326A>C | CA374980697 | ENG | c.566T>G (p.Val189Gly) c.1112T>G (p.Val371Gly) n.80T>G | |
9 | g.127824326A>G | CA374980698 | ENG | c.566T>C (p.Val189Ala) c.1112T>C (p.Val371Ala) n.80T>C | |
9 | g.127824326A>T | CA374980699 | ENG | c.566T>A (p.Val189Glu) c.1112T>A (p.Val371Glu) n.80T>A | |
9 | g.127824327C>A | CA374980700 | ENG | c.565G>T (p.Val189Leu) c.1111G>T (p.Val371Leu) n.79G>T | |
9 | g.127824327C= | CA1879972452 | ENG | c.565G= (p.Val189=) c.1111G= (p.Val371=) n.79G= | |
9 | g.127824327C>G | CA374980701 | ENG | c.565G>C (p.Val189Leu) c.1111G>C (p.Val371Leu) n.79G>C | |
9 | g.127824327C>T | CA374980702 | ENG | c.565G>A (p.Val189Ile) c.1111G>A (p.Val371Ile) n.79G>A | dbSNP gnomAD v4 |
9 | g.127824328dup | CA658656031 | ENG | c.565dup (p.Val189GlyfsTer25) c.1111dup (p.Val371GlyfsTer25) n.79dup | ClinVar dbSNP |
9 | g.127824328C>A | CA467230586 | ENG | c.564G>T (p.Leu188=) c.1110G>T (p.Leu370=) n.78G>T | |
9 | g.127824328C= | CA1879972466 | ENG | c.564G= (p.Leu188=) c.1110G= (p.Leu370=) n.78G= | |
9 | g.127824328C>G | CA467230587 | ENG | c.564G>C (p.Leu188=) c.1110G>C (p.Leu370=) n.78G>C | |
9 | g.127824328C>T | CA467230588 | ENG | c.564G>A (p.Leu188=) c.1110G>A (p.Leu370=) n.78G>A | ClinVar dbSNP |
9 | g.127824329A= | CA1879972474 | ENG | c.563T= (p.Leu188=) c.1109T= (p.Leu370=) n.77T= | |
9 | g.127824329A>C | CA374980703 | ENG | c.563T>G (p.Leu188Arg) c.1109T>G (p.Leu370Arg) n.77T>G | |
9 | g.127824329A>G | CA374980705 | ENG | c.563T>C (p.Leu188Pro) c.1109T>C (p.Leu370Pro) n.77T>C | ClinVar |
9 | g.127824329A>T | CA374980704 | ENG | c.563T>A (p.Leu188Gln) c.1109T>A (p.Leu370Gln) n.77T>A | ClinVar dbSNP |
9 | g.127824330G>A | CA467230589 | ENG | c.562C>T (p.Leu188=) c.1108C>T (p.Leu370=) n.76C>T | |
9 | g.127824330G>C | CA5252877 | ENG | c.562C>G (p.Leu188Val) c.1108C>G (p.Leu370Val) n.76C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127824330G= | CA1879972481 | ENG | c.562C= (p.Leu188=) c.1108C= (p.Leu370=) n.76C= | |
9 | g.127824330G>T | CA374980706 | ENG | c.562C>A (p.Leu188Met) c.1108C>A (p.Leu370Met) n.76C>A | |
9 | g.127824331G>A | CA467230591 | ENG | c.561C>T (p.Thr187=) c.1107C>T (p.Thr369=) n.75C>T | |
9 | g.127824331G>C | CA467230592 | ENG | c.561C>G (p.Thr187=) c.1107C>G (p.Thr369=) n.75C>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127824331G= | CA1879972483 | ENG | c.561C= (p.Thr187=) c.1107C= (p.Thr369=) n.75C= | |
9 | g.127824331G>T | CA467230593 | ENG | c.561C>A (p.Thr187=) c.1107C>A (p.Thr369=) n.75C>A | |
9 | g.127824332G>A | CA5252878 | ENG | c.560C>T (p.Thr187Ile) c.1106C>T (p.Thr369Ile) n.74C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127824332G>C | CA374980707 | ENG | c.560C>G (p.Thr187Ser) c.1106C>G (p.Thr369Ser) n.74C>G | |
9 | g.127824332G= | CA1879972485 | ENG | c.560C= (p.Thr187=) c.1106C= (p.Thr369=) n.74C= | |
9 | g.127824332G>T | CA374980708 | ENG | c.560C>A (p.Thr187Asn) c.1106C>A (p.Thr369Asn) n.74C>A | |
9 | g.127824333T>A | CA374980709 | ENG | c.559A>T (p.Thr187Ser) c.1105A>T (p.Thr369Ser) n.73A>T | |
9 | g.127824333T>C | CA374980711 | ENG | c.559A>G (p.Thr187Ala) c.1105A>G (p.Thr369Ala) n.73A>G | |
9 | g.127824333T>G | CA374980710 | ENG | c.559A>C (p.Thr187Pro) c.1105A>C (p.Thr369Pro) n.73A>C | |
9 | g.127824334del | CA2580079619 | ENG | c.558del (p.Met186IlefsTer5) c.1104del (p.Met368IlefsTer5) n.72del | ClinVar |
9 | g.127824334C>A | CA374980712 | ENG | c.558G>T (p.Met186Ile) c.1104G>T (p.Met368Ile) n.72G>T | |
9 | g.127824334C>G | CA374980713 | ENG | c.558G>C (p.Met186Ile) c.1104G>C (p.Met368Ile) n.72G>C | |
9 | g.127824334C>T | CA374980714 | ENG | c.558G>A (p.Met186Ile) c.1104G>A (p.Met368Ile) n.72G>A | |
9 | g.127824335A>C | CA374980715 | ENG | c.557T>G (p.Met186Arg) c.1103T>G (p.Met368Arg) n.71T>G | |
9 | g.127824335A>G | CA374980716 | ENG | c.557T>C (p.Met186Thr) c.1103T>C (p.Met368Thr) n.71T>C | |
9 | g.127824335A>T | CA374980717 | ENG | c.557T>A (p.Met186Lys) c.1103T>A (p.Met368Lys) n.71T>A | |
9 | g.127824336T>A | CA374980718 | ENG | c.556A>T (p.Met186Leu) c.1102A>T (p.Met368Leu) n.70A>T | |
9 | g.127824336T>C | CA374980719 | ENG | c.556A>G (p.Met186Val) c.1102A>G (p.Met368Val) n.70A>G | gnomAD v4 |
9 | g.127824336T>G | CA374980720 | ENG | c.556A>C (p.Met186Leu) c.1102A>C (p.Met368Leu) n.70A>C | |
9 | g.127824336_127824339del | CA2580079620 | ENG | c.553_556del (p.Ala185Ter) c.1099_1102del (p.Ala367Ter) n.67_70del | ClinVar |
9 | g.127824337G>A | CA467230598 | ENG | c.555C>T (p.Ala185=) c.1101C>T (p.Ala367=) n.69C>T | |
9 | g.127824337G>C | CA467230597 | ENG | c.555C>G (p.Ala185=) c.1101C>G (p.Ala367=) n.69C>G | |
9 | g.127824337G>T | CA467230596 | ENG | c.555C>A (p.Ala185=) c.1101C>A (p.Ala367=) n.69C>A | |
9 | g.127824338G>A | CA374980721 | ENG | c.554C>T (p.Ala185Val) c.1100C>T (p.Ala367Val) n.68C>T | |
9 | g.127824338G>C | CA5252879 | ENG | c.554C>G (p.Ala185Gly) c.1100C>G (p.Ala367Gly) n.68C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824338G= | CA1879972488 | ENG | c.554C= (p.Ala185=) c.1100C= (p.Ala367=) n.68C= | |
9 | g.127824338G>T | CA374980722 | ENG | c.554C>A (p.Ala185Asp) c.1100C>A (p.Ala367Asp) n.68C>A | |
9 | g.127824339C>A | CA374980723 | ENG | c.553G>T (p.Ala185Ser) c.1099G>T (p.Ala367Ser) n.67G>T | |
9 | g.127824339C= | CA1879972493 | ENG | c.553G= (p.Ala185=) c.1099G= (p.Ala367=) n.67G= | |
9 | g.127824339C>G | CA374980724 | ENG | c.553G>C (p.Ala185Pro) c.1099G>C (p.Ala367Pro) n.67G>C | ClinVar dbSNP |
9 | g.127824339C>T | CA5252880 | ENG | c.553G>A (p.Ala185Thr) c.1099G>A (p.Ala367Thr) n.67G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127824339_127824340insA | CA2695211226 | ENG | c.552_553insT (p.Ala185CysfsTer29) c.1098_1099insT (p.Ala367CysfsTer29) n.66_67insT | |
9 | g.127824340G>A | CA5252881 | ENG | c.552C>T (p.Asp184=) c.1098C>T (p.Asp366=) n.66C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824340G>C | CA374980725 | ENG | c.552C>G (p.Asp184Glu) c.1098C>G (p.Asp366Glu) n.66C>G | |
9 | g.127824340G= | CA1879972501 | ENG | c.552C= (p.Asp184=) c.1098C= (p.Asp366=) n.66C= | |
9 | g.127824340G>T | CA374980726 | ENG | c.552C>A (p.Asp184Glu) c.1098C>A (p.Asp366Glu) n.66C>A | |
9 | g.127824341T>A | CA374980727 | ENG | c.551A>T (p.Asp184Val) c.1097A>T (p.Asp366Val) n.65A>T | |
9 | g.127824341T>C | CA200312607 | ENG | c.551A>G (p.Asp184Gly) c.1097A>G (p.Asp366Gly) n.65A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824341T>G | CA374980728 | ENG | c.551A>C (p.Asp184Ala) c.1097A>C (p.Asp366Ala) n.65A>C | |
9 | g.127824341T= | CA1879972509 | ENG | c.551A= (p.Asp184=) c.1097A= (p.Asp366=) n.65A= | |
9 | g.127824342C>A | CA374980729 | ENG | c.550G>T (p.Asp184Tyr) c.1096G>T (p.Asp366Tyr) n.64G>T | |
9 | g.127824342C= | CA1879972513 | ENG | c.550G= (p.Asp184=) c.1096G= (p.Asp366=) n.64G= | |
9 | g.127824342C>G | CA295468 | ENG | c.550G>C (p.Asp184His) c.1096G>C (p.Asp366His) n.64G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824342C>T | CA5252882 | ENG | c.550G>A (p.Asp184Asn) c.1096G>A (p.Asp366Asn) n.64G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127824343G>A | CA5252884 | ENG | c.549C>T (p.Asp183=) c.1095C>T (p.Asp365=) n.63C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824343G>C | CA5252883 | ENG | c.549C>G (p.Asp183Glu) c.1095C>G (p.Asp365Glu) n.63C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824343G= | CA1879972522 | ENG | c.549C= (p.Asp183=) c.1095C= (p.Asp365=) n.63C= | |
9 | g.127824343G>T | CA374980730 | ENG | c.549C>A (p.Asp183Glu) c.1095C>A (p.Asp365Glu) n.63C>A | dbSNP gnomAD v3 gnomAD v4 |
9 | g.127824344T>A | CA374980732 | ENG | c.548A>T (p.Asp183Val) c.1094A>T (p.Asp365Val) n.62A>T | gnomAD v4 |
9 | g.127824344T>C | CA5252885 | ENG | c.548A>G (p.Asp183Gly) c.1094A>G (p.Asp365Gly) n.62A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824344T>G | CA374980731 | ENG | c.548A>C (p.Asp183Ala) c.1094A>C (p.Asp365Ala) n.62A>C | dbSNP |
9 | g.127824344T= | CA1879972525 | ENG | c.548A= (p.Asp183=) c.1094A= (p.Asp365=) n.62A= | |
9 | g.127824345C>A | CA374980733 | ENG | c.547G>T (p.Asp183Tyr) c.1093G>T (p.Asp365Tyr) n.61G>T | ClinVar dbSNP |
9 | g.127824345C= | CA1879972532 | ENG | c.547G= (p.Asp183=) c.1093G= (p.Asp365=) n.61G= | |
9 | g.127824345C>G | CA374980734 | ENG | c.547G>C (p.Asp183His) c.1093G>C (p.Asp365His) n.61G>C | |
9 | g.127824345C>T | CA5252886 | ENG | c.547G>A (p.Asp183Asn) c.1093G>A (p.Asp365Asn) n.61G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824346G>A | CA5252887 | ENG | c.546C>T (p.Ala182=) c.1092C>T (p.Ala364=) n.60C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.127824346G>C | CA467230605 | ENG | c.546C>G (p.Ala182=) c.1092C>G (p.Ala364=) n.60C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824346G= | CA1879972540 | ENG | c.546C= (p.Ala182=) c.1092C= (p.Ala364=) n.60C= | |
9 | g.127824346G>T | CA467230606 | ENG | c.546C>A (p.Ala182=) c.1092C>A (p.Ala364=) n.60C>A | |
9 | g.127824347G>A | CA374980737 | ENG | c.545C>T (p.Ala182Val) c.1091C>T (p.Ala364Val) n.59C>T | |
9 | g.127824347G>C | CA374980736 | ENG | c.545C>G (p.Ala182Gly) c.1091C>G (p.Ala364Gly) n.59C>G | |
9 | g.127824347G>T | CA374980735 | ENG | c.545C>A (p.Ala182Asp) c.1091C>A (p.Ala364Asp) n.59C>A | |
9 | g.127824348C>A | CA374980738 | ENG | c.544G>T (p.Ala182Ser) c.1090G>T (p.Ala364Ser) n.58G>T | |
9 | g.127824348C>G | CA374980739 | ENG | c.544G>C (p.Ala182Pro) c.1090G>C (p.Ala364Pro) n.58G>C | |
9 | g.127824348C>T | CA374980740 | ENG | c.544G>A (p.Ala182Thr) c.1090G>A (p.Ala364Thr) n.58G>A | |
9 | g.127824351_127824352del | CA2695211229 | ENG | c.543_544del (p.Ala182ArgfsTer?) c.1089_1090del (p.Ala364ArgfsTer?) n.57_58del | |
9 | g.127824349A= | CA1879972546 | ENG | c.543T= (p.Cys181=) c.1089T= (p.Cys363=) n.57T= | |
9 | g.127824349A>C | CA374980741 | ENG | c.543T>G (p.Cys181Trp) c.1089T>G (p.Cys363Trp) n.57T>G | ClinVar dbSNP |
9 | g.127824349A>G | CA5252888 | ENG | c.543T>C (p.Cys181=) c.1089T>C (p.Cys363=) n.57T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127824349A>T | CA374980742 | ENG | c.543T>A (p.Cys181Ter) c.1089T>A (p.Cys363Ter) n.57T>A | |
9 | g.127824350C>A | CA374980743 | ENG | c.542G>T (p.Cys181Phe) c.1088G>T (p.Cys363Phe) n.56G>T | |
9 | g.127824350C= | CA1879972553 | ENG | c.542G= (p.Cys181=) c.1088G= (p.Cys363=) n.56G= | |
9 | g.127824350C>G | CA374980745 | ENG | c.542G>C (p.Cys181Ser) c.1088G>C (p.Cys363Ser) n.56G>C | ClinVar dbSNP |
9 | g.127824350C>T | CA374980744 | ENG | c.542G>A (p.Cys181Tyr) c.1088G>A (p.Cys363Tyr) n.56G>A | ClinVar |
9 | g.127824350dup | CA2580079622 | ENG | c.542dup (p.Cys181TrpfsTer?) c.1088dup (p.Cys363TrpfsTer?) n.56dup | ClinVar |
9 | g.127824351A>C | CA374980746 | ENG | c.541T>G (p.Cys181Gly) c.1087T>G (p.Cys363Gly) n.55T>G | ClinVar |
9 | g.127824351A>G | CA374980748 | ENG | c.541T>C (p.Cys181Arg) c.1087T>C (p.Cys363Arg) n.55T>C | ClinVar dbSNP |
9 | g.127824351A>T | CA374980747 | ENG | c.541T>A (p.Cys181Ser) c.1087T>A (p.Cys363Ser) n.55T>A | |
9 | g.127824352C>A | CA374980749 | ENG | c.540G>T (p.Lys180Asn) c.1086G>T (p.Lys362Asn) n.54G>T | |
9 | g.127824352C>G | CA374980750 | ENG | c.540G>C (p.Lys180Asn) c.1086G>C (p.Lys362Asn) n.54G>C | |
9 | g.127824352C>T | CA467230615 | ENG | c.540G>A (p.Lys180=) c.1086G>A (p.Lys362=) n.54G>A | |
9 | g.127824352_127824354delinsCTT | CA1879972561 | ENG | c.538_540delinsAAG (p.Lys180=) c.1084_1086delinsAAG (p.Lys362=) n.52_54delinsAAG | |
9 | g.127824353T>A | CA374980751 | ENG | c.539A>T (p.Lys180Met) c.1085A>T (p.Lys362Met) n.53A>T | |
9 | g.127824353T>C | CA374980752 | ENG | c.539A>G (p.Lys180Arg) c.1085A>G (p.Lys362Arg) n.53A>G | |
9 | g.127824353T>G | CA374980753 | ENG | c.539A>C (p.Lys180Thr) c.1085A>C (p.Lys362Thr) n.53A>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127824353T= | CA1879972569 | ENG | c.539A= (p.Lys180=) c.1085A= (p.Lys362=) n.53A= | |
9 | g.127824355dup | CA2695211232 | ENG | c.539dup (p.Cys181ValfsTer?) c.1085dup (p.Cys363ValfsTer?) n.53dup | |
9 | g.127824355del | CA2695211233 | ENG | c.539del (p.Lys180SerfsTer7) c.1085del (p.Lys362SerfsTer7) n.53del | |
9 | g.127824354_127824355del | CA645372488 | ENG | c.538_539del (p.Lys180ValfsTer?) c.1084_1085del (p.Lys362ValfsTer?) n.52_53del | ClinVar dbSNP |
9 | g.127824354T>A | CA374980754 | ENG | c.538A>T (p.Lys180Ter) c.1084A>T (p.Lys362Ter) n.52A>T | |
9 | g.127824354T>C | CA374980755 | ENG | c.538A>G (p.Lys180Glu) c.1084A>G (p.Lys362Glu) n.52A>G | |
9 | g.127824354T>G | CA374980756 | ENG | c.538A>C (p.Lys180Gln) c.1084A>C (p.Lys362Gln) n.52A>C | |
9 | g.127824354_127824358delinsTTGTC | CA1879972573 | ENG | c.534_538delinsGACAA (p.Gln178=) c.1080_1084delinsGACAA (p.Gln360=) n.48_52delinsGACAA | |
9 | g.127824355T>A | CA467230619 | ENG | c.537A>T (p.Thr179=) c.1083A>T (p.Thr361=) n.51A>T | |
9 | g.127824355T>C | CA467230620 | ENG | c.537A>G (p.Thr179=) c.1083A>G (p.Thr361=) n.51A>G | gnomAD v4 |
9 | g.127824355T>G | CA5252889 | ENG | c.537A>C (p.Thr179=) c.1083A>C (p.Thr361=) n.51A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.127824355T= | CA1879972576 | ENG | c.537A= (p.Thr179=) c.1083A= (p.Thr361=) n.51A= | |
9 | g.127824357_127824360del | CA324999 | ENG | c.534_537del (p.Thr179SerfsTer7) c.1080_1083del (p.Thr361SerfsTer7) n.48_51del | ClinVar dbSNP gnomAD v4 |
9 | g.127824356G>A | CA374980759 | ENG | c.536C>T (p.Thr179Ile) c.1082C>T (p.Thr361Ile) n.50C>T | dbSNP gnomAD v4 |
9 | g.127824356G>C | CA374980758 | ENG | c.536C>G (p.Thr179Arg) c.1082C>G (p.Thr361Arg) n.50C>G | |
9 | g.127824356G= | CA1879972580 | ENG | c.536C= (p.Thr179=) c.1082C= (p.Thr361=) n.50C= | |
9 | g.127824356G>T | CA374980757 | ENG | c.536C>A (p.Thr179Lys) c.1082C>A (p.Thr361Lys) n.50C>A | |
9 | g.127824357T>A | CA374980760 | ENG | c.535A>T (p.Thr179Ser) c.1081A>T (p.Thr361Ser) n.49A>T | |
9 | g.127824357T>C | CA374980761 | ENG | c.535A>G (p.Thr179Ala) c.1081A>G (p.Thr361Ala) n.49A>G | |
9 | g.127824357T>G | CA374980762 | ENG | c.535A>C (p.Thr179Pro) c.1081A>C (p.Thr361Pro) n.49A>C | |
9 | g.127824358C>A | CA374980763 | ENG | c.534G>T (p.Gln178His) c.1080G>T (p.Gln360His) n.48G>T | |
9 | g.127824358C>G | CA374980764 | ENG | c.534G>C (p.Gln178His) c.1080G>C (p.Gln360His) n.48G>C | |
9 | g.127824358C>T | CA467230626 | ENG | c.534G>A (p.Gln178=) c.1080G>A (p.Gln360=) n.48G>A | |
9 | g.127824358_127824367dup | CA2580079624 | ENG | c.525_534dup (p.Thr179LeufsTer?) c.1071_1080dup (p.Thr361LeufsTer?) n.39_48dup | ClinVar |
9 | g.127824359T>A | CA374980765 | ENG | c.533A>T (p.Gln178Leu) c.1079A>T (p.Gln360Leu) n.47A>T | |
9 | g.127824359T>C | CA374980766 | ENG | c.533A>G (p.Gln178Arg) c.1079A>G (p.Gln360Arg) n.47A>G | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127824359T>G | CA374980767 | ENG | c.533A>C (p.Gln178Pro) c.1079A>C (p.Gln360Pro) n.47A>C | |
9 | g.127824359T= | CA1879972587 | ENG | c.533A= (p.Gln178=) c.1079A= (p.Gln360=) n.47A= | |
9 | g.127824360G>A | CA374980768 | ENG | c.532C>T (p.Gln178Ter) c.1078C>T (p.Gln360Ter) n.46C>T | ClinVar |
9 | g.127824360G>C | CA374980769 | ENG | c.532C>G (p.Gln178Glu) c.1078C>G (p.Gln360Glu) n.46C>G | |
9 | g.127824360G>T | CA374980770 | ENG | c.532C>A (p.Gln178Lys) c.1078C>A (p.Gln360Lys) n.46C>A | |
9 | g.127824361G>A | CA467230628 | ENG | c.531C>T (p.Ile177=) c.1077C>T (p.Ile359=) n.45C>T | |
9 | g.127824361G>C | CA374980771 | ENG | c.531C>G (p.Ile177Met) c.1077C>G (p.Ile359Met) n.45C>G | COSMIC COSMIC |
9 | g.127824361G= | CA1879972594 | ENG | c.531C= (p.Ile177=) c.1077C= (p.Ile359=) n.45C= | |
9 | g.127824361G>T | CA467230630 | ENG | c.531C>A (p.Ile177=) c.1077C>A (p.Ile359=) n.45C>A | ClinVar dbSNP gnomAD v4 |
9 | g.127824362A>C | CA374980773 | ENG | c.530T>G (p.Ile177Ser) c.1076T>G (p.Ile359Ser) n.44T>G | ClinVar |
9 | g.127824362A>G | CA374980774 | ENG | c.530T>C (p.Ile177Thr) c.1076T>C (p.Ile359Thr) n.44T>C | ClinVar |
9 | g.127824362A>T | CA374980772 | ENG | c.530T>A (p.Ile177Asn) c.1076T>A (p.Ile359Asn) n.44T>A | ClinVar dbSNP |
9 | g.127824362dup | CA2573143987 | ENG | c.530dup (p.Gln178ProfsTer?) c.1076dup (p.Gln360ProfsTer?) n.44dup | ClinVar dbSNP |
9 | g.127824363T>A | CA374980775 | ENG | c.529A>T (p.Ile177Phe) c.1075A>T (p.Ile359Phe) n.43A>T | |
9 | g.127824363T>C | CA374980776 | ENG | c.529A>G (p.Ile177Val) c.1075A>G (p.Ile359Val) n.43A>G | |
9 | g.127824363T>G | CA374980777 | ENG | c.529A>C (p.Ile177Leu) c.1075A>C (p.Ile359Leu) n.43A>C | |
9 | g.127824364C>A | CA374980778 | ENG | c.528G>T (p.Leu176Phe) c.1074G>T (p.Leu358Phe) n.42G>T | |
9 | g.127824364C>G | CA374980779 | ENG | c.528G>C (p.Leu176Phe) c.1074G>C (p.Leu358Phe) n.42G>C | |
9 | g.127824364C>T | CA467230633 | ENG | c.528G>A (p.Leu176=) c.1074G>A (p.Leu358=) n.42G>A | |
9 | g.127824365A>C | CA374980780 | ENG | c.527T>G (p.Leu176Trp) c.1073T>G (p.Leu358Trp) n.41T>G | |
9 | g.127824365A>G | CA374980781 | ENG | c.527T>C (p.Leu176Ser) c.1073T>C (p.Leu358Ser) n.41T>C | |
9 | g.127824365A>T | CA374980782 | ENG | c.527T>A (p.Leu176Ter) c.1073T>A (p.Leu358Ter) n.41T>A | |
9 | g.127824366A>C | CA374980783 | ENG | c.526T>G (p.Leu176Val) c.1072T>G (p.Leu358Val) n.40T>G | |
9 | g.127824366A>G | CA467230636 | ENG | c.526T>C (p.Leu176=) c.1072T>C (p.Leu358=) n.40T>C | dbSNP |
9 | g.127824366A>T | CA374980784 | ENG | c.526T>A (p.Leu176Met) c.1072T>A (p.Leu358Met) n.40T>A | |
9 | g.127824367G>A | CA467230637 | ENG | c.525C>T (p.Ser175=) c.1071C>T (p.Ser357=) n.39C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.127824367G>C | CA467230638 | ENG | c.525C>G (p.Ser175=) c.1071C>G (p.Ser357=) n.39C>G | |
9 | g.127824367G= | CA1879972595 | ENG | c.525C= (p.Ser175=) c.1071C= (p.Ser357=) n.39C= | |
9 | g.127824367G>T | CA467230639 | ENG | c.525C>A (p.Ser175=) c.1071C>A (p.Ser357=) n.39C>A | |
9 | g.127824368G>A | CA374981440 | ENG | c.524C>T (p.Ser175Phe) c.1070C>T (p.Ser357Phe) n.38C>T | |
9 | g.127824368G>C | CA374981442 | ENG | c.524C>G (p.Ser175Cys) c.1070C>G (p.Ser357Cys) n.38C>G | |
9 | g.127824368G>T | CA374981444 | ENG | c.524C>A (p.Ser175Tyr) c.1070C>A (p.Ser357Tyr) n.38C>A | |
9 | g.127824369A>C | CA374981456 | ENG | c.523T>G (p.Ser175Ala) c.1069T>G (p.Ser357Ala) n.37T>G | |
9 | g.127824369A>G | CA374981455 | ENG | c.523T>C (p.Ser175Pro) c.1069T>C (p.Ser357Pro) n.37T>C | |
9 | g.127824369A>T | CA374981446 | ENG | c.523T>A (p.Ser175Thr) c.1069T>A (p.Ser357Thr) n.37T>A | |
9 | g.127824370C>A | CA374981458 | ENG | c.522G>T (p.Met174Ile) c.1068G>T (p.Met356Ile) n.36G>T | |
9 | g.127824370C>G | CA374981459 | ENG | c.522G>C (p.Met174Ile) c.1068G>C (p.Met356Ile) n.36G>C | |
9 | g.127824370C>T | CA374981461 | ENG | c.522G>A (p.Met174Ile) c.1068G>A (p.Met356Ile) n.36G>A | |
9 | g.127824371A= | CA1879972603 | ENG | c.521T= (p.Met174=) c.1067T= (p.Met356=) n.35T= | |
9 | g.127824371A>C | CA374981464 | ENG | c.521T>G (p.Met174Arg) c.1067T>G (p.Met356Arg) n.35T>G | ClinVar dbSNP |
9 | g.127824371A>G | CA5252890 | ENG | c.521T>C (p.Met174Thr) c.1067T>C (p.Met356Thr) n.35T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824371A>T | CA5252891 | ENG | c.521T>A (p.Met174Lys) c.1067T>A (p.Met356Lys) n.35T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824372T>A | CA374981467 | ENG | c.520A>T (p.Met174Leu) c.1066A>T (p.Met356Leu) n.34A>T | |
9 | g.127824372T>C | CA374981468 | ENG | c.520A>G (p.Met174Val) c.1066A>G (p.Met356Val) n.34A>G | gnomAD v4 |
9 | g.127824372T>G | CA374981471 | ENG | c.520A>C (p.Met174Leu) c.1066A>C (p.Met356Leu) n.34A>C | |
9 | g.127824373G>A | CA467230798 | ENG | c.519C>T (p.Leu173=) c.1065C>T (p.Leu355=) n.33C>T | gnomAD v4 |
9 | g.127824373G>C | CA467230799 | ENG | c.519C>G (p.Leu173=) c.1065C>G (p.Leu355=) n.33C>G | |
9 | g.127824373G>T | CA467230801 | ENG | c.519C>A (p.Leu173=) c.1065C>A (p.Leu355=) n.33C>A | |
9 | g.127824374A>C | CA374981473 | ENG | c.518T>G (p.Leu173Arg) c.1064T>G (p.Leu355Arg) n.32T>G | |
9 | g.127824374A>G | CA374981475 | ENG | c.518T>C (p.Leu173Pro) c.1064T>C (p.Leu355Pro) n.32T>C | ClinVar |
9 | g.127824374A>T | CA374981477 | ENG | c.518T>A (p.Leu173His) c.1064T>A (p.Leu355His) n.32T>A | |
9 | g.127824375G>A | CA374981480 | ENG | c.517C>T (p.Leu173Phe) c.1063C>T (p.Leu355Phe) n.31C>T | ClinVar dbSNP gnomAD v4 |
9 | g.127824375G>C | CA374981483 | ENG | c.517C>G (p.Leu173Val) c.1063C>G (p.Leu355Val) n.31C>G | |
9 | g.127824375G= | CA1879972614 | ENG | c.517C= (p.Leu173=) c.1063C= (p.Leu355=) n.31C= | |
9 | g.127824375G>T | CA374981482 | ENG | c.517C>A (p.Leu173Ile) c.1063C>A (p.Leu355Ile) n.31C>A | |
9 | g.127824376C>A | CA467230802 | ENG | c.516G>T (p.Leu172=) c.1062G>T (p.Leu354=) n.30G>T | dbSNP |
9 | g.127824376C= | CA1879972617 | ENG | c.516G= (p.Leu172=) c.1062G= (p.Leu354=) n.30G= | |
9 | g.127824376C>G | CA467230803 | ENG | c.516G>C (p.Leu172=) c.1062G>C (p.Leu354=) n.30G>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127824376C>T | CA467230804 | ENG | c.516G>A (p.Leu172=) c.1062G>A (p.Leu354=) n.30G>A | |
9 | g.127824377A>C | CA374981486 | ENG | c.515T>G (p.Leu172Arg) c.1061T>G (p.Leu354Arg) n.29T>G | |
9 | g.127824377A>G | CA374981491 | ENG | c.515T>C (p.Leu172Pro) c.1061T>C (p.Leu354Pro) n.29T>C | |
9 | g.127824377A>T | CA374981489 | ENG | c.515T>A (p.Leu172Gln) c.1061T>A (p.Leu354Gln) n.29T>A | |
9 | g.127824377_127824409delinsAGCTCCGGGCTACAAGTGTCCTTGGGAGGAGTG | CA1879972619 | ENG | c.483_515delinsCACTCCTCCCAAGGACACTTGTAGCCCGGAGCT (p.Thr161=) c.1029_1061delinsCACTCCTCCCAAGGACACTTGTAGCCCGGAGCT (p.Thr343=) | |
9 | g.127824378G>A | CA290735 | ENG | c.514C>T (p.Leu172=) c.1060C>T (p.Leu354=) n.28C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824378G>C | CA374981499 | ENG | c.514C>G (p.Leu172Val) c.1060C>G (p.Leu354Val) n.28C>G | dbSNP |
9 | g.127824378G= | CA1879972626 | ENG | c.514C= (p.Leu172=) c.1060C= (p.Leu354=) n.28C= | |
9 | g.127824378G>T | CA374981496 | ENG | c.514C>A (p.Leu172Met) c.1060C>A (p.Leu354Met) n.28C>A | gnomAD v4 |
9 | g.127824378_127824409delinsCCACCAT | CA16612700 | ENG | c.483_514delinsATGGTGG (p.Thr162TrpfsTer7) c.1029_1060delinsATGGTGG (p.Thr344TrpfsTer7) | ClinVar dbSNP |
9 | g.127824379C>A | CA374981505 | ENG | c.513G>T (p.Glu171Asp) c.1059G>T (p.Glu353Asp) n.27G>T | |
9 | g.127824379C>G | CA374981507 | ENG | c.513G>C (p.Glu171Asp) c.1059G>C (p.Glu353Asp) n.27G>C | |
9 | g.127824379C>T | CA467230807 | ENG | c.513G>A (p.Glu171=) c.1059G>A (p.Glu353=) n.27G>A | |
9 | g.127824380T>A | CA374981511 | ENG | c.512A>T (p.Glu171Val) c.1058A>T (p.Glu353Val) n.26A>T | |
9 | g.127824380T>C | CA200312628 | ENG | c.512A>G (p.Glu171Gly) c.1058A>G (p.Glu353Gly) n.26A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824380T>G | CA374981516 | ENG | c.512A>C (p.Glu171Ala) c.1058A>C (p.Glu353Ala) n.26A>C | |
9 | g.127824380T= | CA1879972636 | ENG | c.512A= (p.Glu171=) c.1058A= (p.Glu353=) n.26A= | |
9 | g.127824381C>A | CA374981519 | ENG | c.511G>T (p.Glu171Ter) c.1057G>T (p.Glu353Ter) n.25G>T | |
9 | g.127824381C= | CA1879972638 | ENG | c.511G= (p.Glu171=) c.1057G= (p.Glu353=) n.25G= | |
9 | g.127824381C>G | CA374981521 | ENG | c.511G>C (p.Glu171Gln) c.1057G>C (p.Glu353Gln) n.25G>C | dbSNP gnomAD v2 gnomAD v4 |
9 | g.127824381C>T | CA374981524 | ENG | c.511G>A (p.Glu171Lys) c.1057G>A (p.Glu353Lys) n.25G>A | gnomAD v4 |
9 | g.127824382C>A | CA467230810 | ENG | c.510G>T (p.Pro170=) c.1056G>T (p.Pro352=) n.24G>T | |
9 | g.127824382C= | CA1879972642 | ENG | c.510G= (p.Pro170=) c.1056G= (p.Pro352=) n.24G= | |
9 | g.127824382C>G | CA467230809 | ENG | c.510G>C (p.Pro170=) c.1056G>C (p.Pro352=) n.24G>C | dbSNP COSMIC COSMIC |
9 | g.127824382C>T | CA5252892 | ENG | c.510G>A (p.Pro170=) c.1056G>A (p.Pro352=) n.24G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824383G>A | CA374981530 | ENG | c.509C>T (p.Pro170Leu) c.1055C>T (p.Pro352Leu) n.23C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.127824383G>C | CA374981534 | ENG | c.509C>G (p.Pro170Arg) c.1055C>G (p.Pro352Arg) n.23C>G | |
9 | g.127824383G= | CA1879972651 | ENG | c.509C= (p.Pro170=) c.1055C= (p.Pro352=) n.23C= | |
9 | g.127824383G>T | CA374981535 | ENG | c.509C>A (p.Pro170Gln) c.1055C>A (p.Pro352Gln) n.23C>A | |
9 | g.127824383_127824384delinsAA | CA645549769 | ENG | c.508_509delinsTT (p.Pro170Leu) c.1054_1055delinsTT (p.Pro352Leu) n.22_23delinsTT | COSMIC COSMIC |
9 | g.127824384G>A | CA374981547 | ENG | c.508C>T (p.Pro170Ser) c.1054C>T (p.Pro352Ser) n.22C>T | |
9 | g.127824384G>C | CA374981540 | ENG | c.508C>G (p.Pro170Ala) c.1054C>G (p.Pro352Ala) n.22C>G | |
9 | g.127824384G>T | CA374981545 | ENG | c.508C>A (p.Pro170Thr) c.1054C>A (p.Pro352Thr) n.22C>A | dbSNP gnomAD v4 |
9 | g.127824384_127824396del | CA2580079627 | ENG | c.496_508del (p.Asp166ArgfsTer7) c.1042_1054del (p.Asp348ArgfsTer7) n.10_22del | ClinVar |
9 | g.127824385G>A | CA467230812 | ENG | c.507C>T (p.Ser169=) c.1053C>T (p.Ser351=) n.21C>T | |
9 | g.127824385G>C | CA374981550 | ENG | c.507C>G (p.Ser169Arg) c.1053C>G (p.Ser351Arg) n.21C>G | |
9 | g.127824385G>T | CA374981552 | ENG | c.507C>A (p.Ser169Arg) c.1053C>A (p.Ser351Arg) n.21C>A | |
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 |