Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.127823973_127830053delCA1139661202ENGc.-327-226_588+331del
c.220-226_1134+331del
 ClinVar
9g.127823973_127830815delCA1139661203ENGc.-327-988_588+331del
c.220-988_1134+331del
 ClinVar
9g.127824290_127824291insACTGAGCCAGAGGGGCACA2691807288ENGc.588+29_588+30insTTGCCCCTCTGGCTCAG (n.588+29_588+30insTTGCCCCTCTGGCTCAG)
c.1134+29_1134+30insTTGCCCCTCTGGCTCAG (n.1134+29_1134+30insTTGCCCCTCTGGCTCAG)
n.102+29_102+30insTTGCCCCTCTGGCTCAG
 gnomAD v4
9g.127824282A>GCA2720711688ENGc.588+22T>C (n.588+22T>C)
c.1134+22T>C (n.1134+22T>C)
n.102+22T>C
 dbSNP
9g.127824283G>ACA860196238ENGc.588+21C>T (n.588+21C>T)
c.1134+21C>T (n.1134+21C>T)
n.102+21C>T
 dbSNP gnomAD v4
9g.127824283G=CA1879972366ENGc.588+21C= (n.588+21C=)
c.1134+21C= (n.1134+21C=)
n.102+21C=
9g.127824287_127824292dupCA2579461238ENGc.588+15_588+20dup (n.588+15_588+20dup)
c.1134+15_1134+20dup (n.1134+15_1134+20dup)
n.102+15_102+20dup
9g.127824286G>ACA2691807292ENGc.588+18C>T (n.588+18C>T)
c.1134+18C>T (n.1134+18C>T)
n.102+18C>T
 gnomAD v4
9g.127824287G>ACA5252873ENGc.588+17C>T (n.588+17C>T)
c.1134+17C>T (n.1134+17C>T)
n.102+17C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127824287G=CA1879972369ENGc.588+17C= (n.588+17C=)
c.1134+17C= (n.1134+17C=)
n.102+17C=
9g.127824287G>TCA860196242ENGc.588+17C>A (n.588+17C>A)
c.1134+17C>A (n.1134+17C>A)
n.102+17C>A
 dbSNP gnomAD v3 gnomAD v4
9g.127824288G>ACA200312563ENGc.588+16C>T (n.588+16C>T)
c.1134+16C>T (n.1134+16C>T)
n.102+16C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127824288G=CA1879972372ENGc.588+16C= (n.588+16C=)
c.1134+16C= (n.1134+16C=)
n.102+16C=
9g.127824288G>TCA2580079616ENGc.588+16C>A (n.588+16C>A)
c.1134+16C>A (n.1134+16C>A)
n.102+16C>A
 ClinVar
9g.127824290A=CA1879972373ENGc.588+14T= (n.588+14T=)
c.1134+14T= (n.1134+14T=)
n.102+14T=
9g.127824290A>CCA590603200ENGc.588+14T>G (n.588+14T>G)
c.1134+14T>G (n.1134+14T>G)
n.102+14T>G
 dbSNP gnomAD v2 gnomAD v4
9g.127824291G>ACA860196247ENGc.588+13C>T (n.588+13C>T)
c.1134+13C>T (n.1134+13C>T)
n.102+13C>T
 dbSNP
9g.127824291G>CCA2691807304ENGc.588+13C>G (n.588+13C>G)
c.1134+13C>G (n.1134+13C>G)
n.102+13C>G
 gnomAD v4
9g.127824291G=CA1879972374ENGc.588+13C= (n.588+13C=)
c.1134+13C= (n.1134+13C=)
n.102+13C=
9g.127824292G>ACA2579461241ENGc.588+12C>T (n.588+12C>T)
c.1134+12C>T (n.1134+12C>T)
n.102+12C>T
 ClinVar
9g.127824292G=CA1879972377ENGc.588+12C= (n.588+12C=)
c.1134+12C= (n.1134+12C=)
n.102+12C=
9g.127824292G>TCA590603201ENGc.588+12C>A (n.588+12C>A)
c.1134+12C>A (n.1134+12C>A)
n.102+12C>A
 dbSNP gnomAD v2 gnomAD v4
9g.127824293A>GCA2691807307ENGc.588+11T>C (n.588+11T>C)
c.1134+11T>C (n.1134+11T>C)
n.102+11T>C
 gnomAD v4
9g.127824294G>ACA2691807310ENGc.588+10C>T (n.588+10C>T)
c.1134+10C>T (n.1134+10C>T)
n.102+10C>T
 gnomAD v4
9g.127824294G>CCA5252874ENGc.588+10C>G (n.588+10C>G)
c.1134+10C>G (n.1134+10C>G)
n.102+10C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824294G=CA1879972381ENGc.588+10C= (n.588+10C=)
c.1134+10C= (n.1134+10C=)
n.102+10C=
9g.127824294_127824295delinsGTCA1879972384ENGc.588+9_588+10delinsAC (n.588+9_588+10delinsAC)
c.1134+9_1134+10delinsAC (n.1134+9_1134+10delinsAC)
n.102+9_102+10delinsAC
9g.127824295T>ACA5252875ENGc.588+9A>T (n.588+9A>T)
c.1134+9A>T (n.1134+9A>T)
n.102+9A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824295T=CA1879972391ENGc.588+9A= (n.588+9A=)
c.1134+9A= (n.1134+9A=)
n.102+9A=
9g.127824296delCA590603203ENGc.588+9del (n.588+9del)
c.1134+9del (n.1134+9del)
n.102+9del
 dbSNP gnomAD v2 gnomAD v4
9g.127824296_127824301delCA2695211213ENGc.588+4_588+9del (n.588+4_588+9del)
c.1134+4_1134+9del (n.1134+4_1134+9del)
n.102+4_102+9del
9g.127824302A>CCA374980576ENGc.588+2T>G (n.588+2T>G)
c.1134+2T>G (n.1134+2T>G)
n.102+2T>G
9g.127824302A>GCA374980575ENGc.588+2T>C (n.588+2T>C)
c.1134+2T>C (n.1134+2T>C)
n.102+2T>C
9g.127824302A>TCA374980572ENGc.588+2T>A (n.588+2T>A)
c.1134+2T>A (n.1134+2T>A)
n.102+2T>A
9g.127824303C>ACA374980577ENGc.588+1G>T (n.588+1G>T)
c.1134+1G>T (n.1134+1G>T)
n.102+1G>T
 ClinVar
9g.127824303C=CA1879972398ENGc.588+1G= (n.588+1G=)
c.1134+1G= (n.1134+1G=)
n.102+1G=
9g.127824303C>GCA200312584ENGc.588+1G>C (n.588+1G>C)
c.1134+1G>C (n.1134+1G>C)
n.102+1G>C
 dbSNP
9g.127824303C>TCA374980580ENGc.588+1G>A (n.588+1G>A)
c.1134+1G>A (n.1134+1G>A)
n.102+1G>A
 ClinVar dbSNP
9g.127824304delCA2695211217ENGc.588+1del
c.1134+1del
n.102+1del
9g.127824304C>ACA467230559ENGc.588G>T (p.Ala196=)
c.1134G>T (p.Ala378=)
n.102G>T
9g.127824304C=CA1879972403ENGc.588G= (p.Ala196=)
c.1134G= (p.Ala378=)
n.102G=
9g.127824304C>GCA467230560ENGc.588G>C (p.Ala196=)
c.1134G>C (p.Ala378=)
n.102G>C
 ClinVar dbSNP
9g.127824304C>TCA467230561ENGc.588G>A (p.Ala196=)
c.1134G>A (p.Ala378=)
n.102G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.127824305G>ACA5252876ENGc.587C>T (p.Ala196Val)
c.1133C>T (p.Ala378Val)
n.101C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.127824305G>CCA374980585ENGc.587C>G (p.Ala196Gly)
c.1133C>G (p.Ala378Gly)
n.101C>G
9g.127824305G=CA1879972409ENGc.587C= (p.Ala196=)
c.1133C= (p.Ala378=)
n.101C=
9g.127824305G>TCA374980587ENGc.587C>A (p.Ala196Glu)
c.1133C>A (p.Ala378Glu)
n.101C>A
 gnomAD v4
9g.127824306C>ACA374980591ENGc.586G>T (p.Ala196Ser)
c.1132G>T (p.Ala378Ser)
n.100G>T
 gnomAD v4
9g.127824306C>GCA374980593ENGc.586G>C (p.Ala196Pro)
c.1132G>C (p.Ala378Pro)
n.100G>C
9g.127824306C>TCA374980599ENGc.586G>A (p.Ala196Thr)
c.1132G>A (p.Ala378Thr)
n.100G>A
9g.127824307A>CCA467230562ENGc.585T>G (p.Val195=)
c.1131T>G (p.Val377=)
n.99T>G
9g.127824307A>GCA467230564ENGc.585T>C (p.Val195=)
c.1131T>C (p.Val377=)
n.99T>C
9g.127824307A>TCA467230563ENGc.585T>A (p.Val195=)
c.1131T>A (p.Val377=)
n.99T>A
9g.127824308A=CA1879972414ENGc.584T= (p.Val195=)
c.1130T= (p.Val377=)
n.98T=
9g.127824308A>CCA374980603ENGc.584T>G (p.Val195Gly)
c.1130T>G (p.Val377Gly)
n.98T>G
9g.127824308A>GCA374980605ENGc.584T>C (p.Val195Ala)
c.1130T>C (p.Val377Ala)
n.98T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.127824308A>TCA374980608ENGc.584T>A (p.Val195Asp)
c.1130T>A (p.Val377Asp)
n.98T>A
9g.127824309C>ACA374980614ENGc.583G>T (p.Val195Phe)
c.1129G>T (p.Val377Phe)
n.97G>T
9g.127824309C>GCA374980612ENGc.583G>C (p.Val195Leu)
c.1129G>C (p.Val377Leu)
n.97G>C
 gnomAD v4
9g.127824309C>TCA374980610ENGc.583G>A (p.Val195Ile)
c.1129G>A (p.Val377Ile)
n.97G>A
9g.127824310A=CA1879972417ENGc.582T= (p.Leu194=)
c.1128T= (p.Leu376=)
n.96T=
9g.127824310A>CCA467230567ENGc.582T>G (p.Leu194=)
c.1128T>G (p.Leu376=)
n.96T>G
9g.127824310A>GCA467230568ENGc.582T>C (p.Leu194=)
c.1128T>C (p.Leu376=)
n.96T>C
 dbSNP
9g.127824310A>TCA467230569ENGc.582T>A (p.Leu194=)
c.1128T>A (p.Leu376=)
n.96T>A
9g.127824311dupCA2695211220ENGc.582dup (p.Val195CysfsTer19)
c.1128dup (p.Val377CysfsTer19)
n.96dup
9g.127824311A>CCA374980615ENGc.581T>G (p.Leu194Arg)
c.1127T>G (p.Leu376Arg)
n.95T>G
9g.127824311A>GCA374980618ENGc.581T>C (p.Leu194Pro)
c.1127T>C (p.Leu376Pro)
n.95T>C
9g.127824311A>TCA374980621ENGc.581T>A (p.Leu194His)
c.1127T>A (p.Leu376His)
n.95T>A
9g.127824312G>ACA374980624ENGc.580C>T (p.Leu194Phe)
c.1126C>T (p.Leu376Phe)
n.94C>T
 gnomAD v4
9g.127824312G>CCA374980626ENGc.580C>G (p.Leu194Val)
c.1126C>G (p.Leu376Val)
n.94C>G
9g.127824312G>TCA374980627ENGc.580C>A (p.Leu194Ile)
c.1126C>A (p.Leu376Ile)
n.94C>A
9g.127824312_127824314delinsGCTCA1879972420ENGc.578_580delinsAGC (p.Glu193=)
c.1124_1126delinsAGC (p.Glu375=)
n.92_94delinsAGC
9g.127824313C>ACA374980631ENGc.579G>T (p.Glu193Asp)
c.1125G>T (p.Glu375Asp)
n.93G>T
 gnomAD v4
9g.127824313C>GCA374980633ENGc.579G>C (p.Glu193Asp)
c.1125G>C (p.Glu375Asp)
n.93G>C
9g.127824313C>TCA467230570ENGc.579G>A (p.Glu193=)
c.1125G>A (p.Glu375=)
n.93G>A
 gnomAD v4
9g.127824313_127824316delCA2580079617ENGc.576_579del (p.Lys192AsnfsTer6)
c.1122_1125del (p.Lys374AsnfsTer6)
n.90_93del
 ClinVar
9g.127824315_127824316delCA658656030ENGc.578_579del (p.Glu193AlafsTer20)
c.1124_1125del (p.Glu375AlafsTer20)
n.92_93del
 ClinVar dbSNP
9g.127824313_127824317delinsCTCTTCA1879972427ENGc.575_579delinsAAGAG (p.Lys192=)
c.1121_1125delinsAAGAG (p.Lys374=)
n.89_93delinsAAGAG
9g.127824314T>ACA374980636ENGc.578A>T (p.Glu193Val)
c.1124A>T (p.Glu375Val)
n.92A>T
9g.127824314T>CCA374980638ENGc.578A>G (p.Glu193Gly)
c.1124A>G (p.Glu375Gly)
n.92A>G
9g.127824314T>GCA374980640ENGc.578A>C (p.Glu193Ala)
c.1124A>C (p.Glu375Ala)
n.92A>C
9g.127824319_127824322delCA16618747ENGc.575_578del (p.Lys192SerfsTer6)
c.1121_1124del (p.Lys374SerfsTer6)
n.89_92del
 ClinVar dbSNP
9g.127824315C>ACA374980644ENGc.577G>T (p.Glu193Ter)
c.1123G>T (p.Glu375Ter)
n.91G>T
9g.127824315C>GCA374980646ENGc.577G>C (p.Glu193Gln)
c.1123G>C (p.Glu375Gln)
n.91G>C
9g.127824315C>TCA374980647ENGc.577G>A (p.Glu193Lys)
c.1123G>A (p.Glu375Lys)
n.91G>A
9g.127824316T>ACA374980649ENGc.576A>T (p.Lys192Asn)
c.1122A>T (p.Lys374Asn)
n.90A>T
9g.127824316T>CCA467230571ENGc.576A>G (p.Lys192=)
c.1122A>G (p.Lys374=)
n.90A>G
 gnomAD v4
9g.127824316T>GCA374980651ENGc.576A>C (p.Lys192Asn)
c.1122A>C (p.Lys374Asn)
n.90A>C
9g.127824316_127824317delinsGCCA913186018ENGc.575_576delinsGC (p.Lys192Ser)
c.1121_1122delinsGC (p.Lys374Ser)
n.89_90delinsGC
 ClinVar dbSNP
9g.127824318dupCA2573053100ENGc.576dup (p.Glu193ArgfsTer21)
c.1122dup (p.Glu375ArgfsTer21)
n.90dup
 ClinVar dbSNP
9g.127824317T>ACA374980653ENGc.575A>T (p.Lys192Ile)
c.1121A>T (p.Lys374Ile)
n.89A>T
9g.127824317T>CCA374980655ENGc.575A>G (p.Lys192Arg)
c.1121A>G (p.Lys374Arg)
n.89A>G
9g.127824317T>GCA374980658ENGc.575A>C (p.Lys192Thr)
c.1121A>C (p.Lys374Thr)
n.89A>C
 COSMIC COSMIC
9g.127824318T>ACA374980661ENGc.574A>T (p.Lys192Ter)
c.1120A>T (p.Lys374Ter)
n.88A>T
9g.127824318T>CCA374980663ENGc.574A>G (p.Lys192Glu)
c.1120A>G (p.Lys374Glu)
n.88A>G
 ClinVar
9g.127824318T>GCA374980665ENGc.574A>C (p.Lys192Gln)
c.1120A>C (p.Lys374Gln)
n.88A>C
9g.127824320_127824342delCA2695211224ENGc.552_574del (p.Asp184GlufsTer22)
c.1098_1120del (p.Asp366GlufsTer22)
n.66_88del
9g.127824319delCA2691807384ENGc.573del (p.Glu193SerfsTer6)
c.1119del (p.Glu375SerfsTer6)
n.87del
 gnomAD v4
9g.127824319C>ACA374980668ENGc.573G>T (p.Lys191Asn)
c.1119G>T (p.Lys373Asn)
n.87G>T
9g.127824319C>GCA374980670ENGc.573G>C (p.Lys191Asn)
c.1119G>C (p.Lys373Asn)
n.87G>C
9g.127824319C>TCA467230574ENGc.573G>A (p.Lys191=)
c.1119G>A (p.Lys373=)
n.87G>A
9g.127824320T>ACA374980673ENGc.572A>T (p.Lys191Met)
c.1118A>T (p.Lys373Met)
n.86A>T
9g.127824320T>CCA374980675ENGc.572A>G (p.Lys191Arg)
c.1118A>G (p.Lys373Arg)
n.86A>G
9g.127824320T>GCA374980677ENGc.572A>C (p.Lys191Thr)
c.1118A>C (p.Lys373Thr)
n.86A>C
9g.127824321T>ACA374980682ENGc.571A>T (p.Lys191Ter)
c.1117A>T (p.Lys373Ter)
n.85A>T
9g.127824321T>CCA374980680ENGc.571A>G (p.Lys191Glu)
c.1117A>G (p.Lys373Glu)
n.85A>G
9g.127824321T>GCA374980678ENGc.571A>C (p.Lys191Gln)
c.1117A>C (p.Lys373Gln)
n.85A>C
9g.127824321_127824322insACA2695211225ENGc.570_571insT (p.Lys191Ter)
c.1116_1117insT (p.Lys373Ter)
n.84_85insT
9g.127824322T>ACA467230575ENGc.570A>T (p.Leu190=)
c.1116A>T (p.Leu372=)
n.84A>T
9g.127824322T>CCA467230576ENGc.570A>G (p.Leu190=)
c.1116A>G (p.Leu372=)
n.84A>G
9g.127824322T>GCA467230577ENGc.570A>C (p.Leu190=)
c.1116A>C (p.Leu372=)
n.84A>C
9g.127824322T=CA1879972436ENGc.570A= (p.Leu190=)
c.1116A= (p.Leu372=)
n.84A=
9g.127824323A>CCA374980685ENGc.569T>G (p.Leu190Arg)
c.1115T>G (p.Leu372Arg)
n.83T>G
9g.127824323A>GCA374980689ENGc.569T>C (p.Leu190Pro)
c.1115T>C (p.Leu372Pro)
n.83T>C
9g.127824323A>TCA374980687ENGc.569T>A (p.Leu190Gln)
c.1115T>A (p.Leu372Gln)
n.83T>A
9g.127824325_127824330dupCA1139661204ENGc.564_569dup (p.Leu190_Lys191insValLeu)
c.1110_1115dup (p.Leu372_Lys373insValLeu)
n.78_83dup
 ClinVar dbSNP
9g.127824324G>ACA467230578ENGc.568C>T (p.Leu190=)
c.1114C>T (p.Leu372=)
n.82C>T
 ClinVar COSMIC
9g.127824324G>CCA374980692ENGc.568C>G (p.Leu190Val)
c.1114C>G (p.Leu372Val)
n.82C>G
9g.127824324G>TCA374980694ENGc.568C>A (p.Leu190Ile)
c.1114C>A (p.Leu372Ile)
n.82C>A
9g.127824325T>ACA467230579ENGc.567A>T (p.Val189=)
c.1113A>T (p.Val371=)
n.81A>T
9g.127824325T>CCA467230580ENGc.567A>G (p.Val189=)
c.1113A>G (p.Val371=)
n.81A>G
 dbSNP gnomAD v4
9g.127824325T>GCA467230582ENGc.567A>C (p.Val189=)
c.1113A>C (p.Val371=)
n.81A>C
9g.127824325T=CA1879972439ENGc.567A= (p.Val189=)
c.1113A= (p.Val371=)
n.81A=
9g.127824326A=CA1879972444ENGc.566T= (p.Val189=)
c.1112T= (p.Val371=)
n.80T=
9g.127824326A>CCA374980697ENGc.566T>G (p.Val189Gly)
c.1112T>G (p.Val371Gly)
n.80T>G
9g.127824326A>GCA374980698ENGc.566T>C (p.Val189Ala)
c.1112T>C (p.Val371Ala)
n.80T>C
9g.127824326A>TCA374980699ENGc.566T>A (p.Val189Glu)
c.1112T>A (p.Val371Glu)
n.80T>A
9g.127824327C>ACA374980700ENGc.565G>T (p.Val189Leu)
c.1111G>T (p.Val371Leu)
n.79G>T
9g.127824327C=CA1879972452ENGc.565G= (p.Val189=)
c.1111G= (p.Val371=)
n.79G=
9g.127824327C>GCA374980701ENGc.565G>C (p.Val189Leu)
c.1111G>C (p.Val371Leu)
n.79G>C
9g.127824327C>TCA374980702ENGc.565G>A (p.Val189Ile)
c.1111G>A (p.Val371Ile)
n.79G>A
 dbSNP gnomAD v4
9g.127824328dupCA658656031ENGc.565dup (p.Val189GlyfsTer25)
c.1111dup (p.Val371GlyfsTer25)
n.79dup
 ClinVar dbSNP
9g.127824328C>ACA467230586ENGc.564G>T (p.Leu188=)
c.1110G>T (p.Leu370=)
n.78G>T
9g.127824328C=CA1879972466ENGc.564G= (p.Leu188=)
c.1110G= (p.Leu370=)
n.78G=
9g.127824328C>GCA467230587ENGc.564G>C (p.Leu188=)
c.1110G>C (p.Leu370=)
n.78G>C
9g.127824328C>TCA467230588ENGc.564G>A (p.Leu188=)
c.1110G>A (p.Leu370=)
n.78G>A
 ClinVar dbSNP
9g.127824329A=CA1879972474ENGc.563T= (p.Leu188=)
c.1109T= (p.Leu370=)
n.77T=
9g.127824329A>CCA374980703ENGc.563T>G (p.Leu188Arg)
c.1109T>G (p.Leu370Arg)
n.77T>G
9g.127824329A>GCA374980705ENGc.563T>C (p.Leu188Pro)
c.1109T>C (p.Leu370Pro)
n.77T>C
 ClinVar
9g.127824329A>TCA374980704ENGc.563T>A (p.Leu188Gln)
c.1109T>A (p.Leu370Gln)
n.77T>A
 ClinVar dbSNP
9g.127824330G>ACA467230589ENGc.562C>T (p.Leu188=)
c.1108C>T (p.Leu370=)
n.76C>T
9g.127824330G>CCA5252877ENGc.562C>G (p.Leu188Val)
c.1108C>G (p.Leu370Val)
n.76C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.127824330G=CA1879972481ENGc.562C= (p.Leu188=)
c.1108C= (p.Leu370=)
n.76C=
9g.127824330G>TCA374980706ENGc.562C>A (p.Leu188Met)
c.1108C>A (p.Leu370Met)
n.76C>A
9g.127824331G>ACA467230591ENGc.561C>T (p.Thr187=)
c.1107C>T (p.Thr369=)
n.75C>T
9g.127824331G>CCA467230592ENGc.561C>G (p.Thr187=)
c.1107C>G (p.Thr369=)
n.75C>G
 dbSNP gnomAD v2 gnomAD v4
9g.127824331G=CA1879972483ENGc.561C= (p.Thr187=)
c.1107C= (p.Thr369=)
n.75C=
9g.127824331G>TCA467230593ENGc.561C>A (p.Thr187=)
c.1107C>A (p.Thr369=)
n.75C>A
9g.127824332G>ACA5252878ENGc.560C>T (p.Thr187Ile)
c.1106C>T (p.Thr369Ile)
n.74C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.127824332G>CCA374980707ENGc.560C>G (p.Thr187Ser)
c.1106C>G (p.Thr369Ser)
n.74C>G
9g.127824332G=CA1879972485ENGc.560C= (p.Thr187=)
c.1106C= (p.Thr369=)
n.74C=
9g.127824332G>TCA374980708ENGc.560C>A (p.Thr187Asn)
c.1106C>A (p.Thr369Asn)
n.74C>A
9g.127824333T>ACA374980709ENGc.559A>T (p.Thr187Ser)
c.1105A>T (p.Thr369Ser)
n.73A>T
9g.127824333T>CCA374980711ENGc.559A>G (p.Thr187Ala)
c.1105A>G (p.Thr369Ala)
n.73A>G
9g.127824333T>GCA374980710ENGc.559A>C (p.Thr187Pro)
c.1105A>C (p.Thr369Pro)
n.73A>C
9g.127824334delCA2580079619ENGc.558del (p.Met186IlefsTer5)
c.1104del (p.Met368IlefsTer5)
n.72del
 ClinVar
9g.127824334C>ACA374980712ENGc.558G>T (p.Met186Ile)
c.1104G>T (p.Met368Ile)
n.72G>T
9g.127824334C>GCA374980713ENGc.558G>C (p.Met186Ile)
c.1104G>C (p.Met368Ile)
n.72G>C
9g.127824334C>TCA374980714ENGc.558G>A (p.Met186Ile)
c.1104G>A (p.Met368Ile)
n.72G>A
9g.127824335A>CCA374980715ENGc.557T>G (p.Met186Arg)
c.1103T>G (p.Met368Arg)
n.71T>G
9g.127824335A>GCA374980716ENGc.557T>C (p.Met186Thr)
c.1103T>C (p.Met368Thr)
n.71T>C
9g.127824335A>TCA374980717ENGc.557T>A (p.Met186Lys)
c.1103T>A (p.Met368Lys)
n.71T>A
9g.127824336T>ACA374980718ENGc.556A>T (p.Met186Leu)
c.1102A>T (p.Met368Leu)
n.70A>T
9g.127824336T>CCA374980719ENGc.556A>G (p.Met186Val)
c.1102A>G (p.Met368Val)
n.70A>G
 gnomAD v4
9g.127824336T>GCA374980720ENGc.556A>C (p.Met186Leu)
c.1102A>C (p.Met368Leu)
n.70A>C
9g.127824336_127824339delCA2580079620ENGc.553_556del (p.Ala185Ter)
c.1099_1102del (p.Ala367Ter)
n.67_70del
 ClinVar
9g.127824337G>ACA467230598ENGc.555C>T (p.Ala185=)
c.1101C>T (p.Ala367=)
n.69C>T
9g.127824337G>CCA467230597ENGc.555C>G (p.Ala185=)
c.1101C>G (p.Ala367=)
n.69C>G
9g.127824337G>TCA467230596ENGc.555C>A (p.Ala185=)
c.1101C>A (p.Ala367=)
n.69C>A
9g.127824338G>ACA374980721ENGc.554C>T (p.Ala185Val)
c.1100C>T (p.Ala367Val)
n.68C>T
9g.127824338G>CCA5252879ENGc.554C>G (p.Ala185Gly)
c.1100C>G (p.Ala367Gly)
n.68C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824338G=CA1879972488ENGc.554C= (p.Ala185=)
c.1100C= (p.Ala367=)
n.68C=
9g.127824338G>TCA374980722ENGc.554C>A (p.Ala185Asp)
c.1100C>A (p.Ala367Asp)
n.68C>A
9g.127824339C>ACA374980723ENGc.553G>T (p.Ala185Ser)
c.1099G>T (p.Ala367Ser)
n.67G>T
9g.127824339C=CA1879972493ENGc.553G= (p.Ala185=)
c.1099G= (p.Ala367=)
n.67G=
9g.127824339C>GCA374980724ENGc.553G>C (p.Ala185Pro)
c.1099G>C (p.Ala367Pro)
n.67G>C
 ClinVar dbSNP
9g.127824339C>TCA5252880ENGc.553G>A (p.Ala185Thr)
c.1099G>A (p.Ala367Thr)
n.67G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.127824339_127824340insACA2695211226ENGc.552_553insT (p.Ala185CysfsTer29)
c.1098_1099insT (p.Ala367CysfsTer29)
n.66_67insT
9g.127824340G>ACA5252881ENGc.552C>T (p.Asp184=)
c.1098C>T (p.Asp366=)
n.66C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824340G>CCA374980725ENGc.552C>G (p.Asp184Glu)
c.1098C>G (p.Asp366Glu)
n.66C>G
9g.127824340G=CA1879972501ENGc.552C= (p.Asp184=)
c.1098C= (p.Asp366=)
n.66C=
9g.127824340G>TCA374980726ENGc.552C>A (p.Asp184Glu)
c.1098C>A (p.Asp366Glu)
n.66C>A
9g.127824341T>ACA374980727ENGc.551A>T (p.Asp184Val)
c.1097A>T (p.Asp366Val)
n.65A>T
9g.127824341T>CCA200312607ENGc.551A>G (p.Asp184Gly)
c.1097A>G (p.Asp366Gly)
n.65A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127824341T>GCA374980728ENGc.551A>C (p.Asp184Ala)
c.1097A>C (p.Asp366Ala)
n.65A>C
9g.127824341T=CA1879972509ENGc.551A= (p.Asp184=)
c.1097A= (p.Asp366=)
n.65A=
9g.127824342C>ACA374980729ENGc.550G>T (p.Asp184Tyr)
c.1096G>T (p.Asp366Tyr)
n.64G>T
9g.127824342C=CA1879972513ENGc.550G= (p.Asp184=)
c.1096G= (p.Asp366=)
n.64G=
9g.127824342C>GCA295468ENGc.550G>C (p.Asp184His)
c.1096G>C (p.Asp366His)
n.64G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824342C>TCA5252882ENGc.550G>A (p.Asp184Asn)
c.1096G>A (p.Asp366Asn)
n.64G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.127824343G>ACA5252884ENGc.549C>T (p.Asp183=)
c.1095C>T (p.Asp365=)
n.63C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824343G>CCA5252883ENGc.549C>G (p.Asp183Glu)
c.1095C>G (p.Asp365Glu)
n.63C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824343G=CA1879972522ENGc.549C= (p.Asp183=)
c.1095C= (p.Asp365=)
n.63C=
9g.127824343G>TCA374980730ENGc.549C>A (p.Asp183Glu)
c.1095C>A (p.Asp365Glu)
n.63C>A
 dbSNP gnomAD v3 gnomAD v4
9g.127824344T>ACA374980732ENGc.548A>T (p.Asp183Val)
c.1094A>T (p.Asp365Val)
n.62A>T
 gnomAD v4
9g.127824344T>CCA5252885ENGc.548A>G (p.Asp183Gly)
c.1094A>G (p.Asp365Gly)
n.62A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824344T>GCA374980731ENGc.548A>C (p.Asp183Ala)
c.1094A>C (p.Asp365Ala)
n.62A>C
 dbSNP
9g.127824344T=CA1879972525ENGc.548A= (p.Asp183=)
c.1094A= (p.Asp365=)
n.62A=
9g.127824345C>ACA374980733ENGc.547G>T (p.Asp183Tyr)
c.1093G>T (p.Asp365Tyr)
n.61G>T
 ClinVar dbSNP
9g.127824345C=CA1879972532ENGc.547G= (p.Asp183=)
c.1093G= (p.Asp365=)
n.61G=
9g.127824345C>GCA374980734ENGc.547G>C (p.Asp183His)
c.1093G>C (p.Asp365His)
n.61G>C
9g.127824345C>TCA5252886ENGc.547G>A (p.Asp183Asn)
c.1093G>A (p.Asp365Asn)
n.61G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824346G>ACA5252887ENGc.546C>T (p.Ala182=)
c.1092C>T (p.Ala364=)
n.60C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.127824346G>CCA467230605ENGc.546C>G (p.Ala182=)
c.1092C>G (p.Ala364=)
n.60C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127824346G=CA1879972540ENGc.546C= (p.Ala182=)
c.1092C= (p.Ala364=)
n.60C=
9g.127824346G>TCA467230606ENGc.546C>A (p.Ala182=)
c.1092C>A (p.Ala364=)
n.60C>A
9g.127824347G>ACA374980737ENGc.545C>T (p.Ala182Val)
c.1091C>T (p.Ala364Val)
n.59C>T
9g.127824347G>CCA374980736ENGc.545C>G (p.Ala182Gly)
c.1091C>G (p.Ala364Gly)
n.59C>G
9g.127824347G>TCA374980735ENGc.545C>A (p.Ala182Asp)
c.1091C>A (p.Ala364Asp)
n.59C>A
9g.127824348C>ACA374980738ENGc.544G>T (p.Ala182Ser)
c.1090G>T (p.Ala364Ser)
n.58G>T
9g.127824348C>GCA374980739ENGc.544G>C (p.Ala182Pro)
c.1090G>C (p.Ala364Pro)
n.58G>C
9g.127824348C>TCA374980740ENGc.544G>A (p.Ala182Thr)
c.1090G>A (p.Ala364Thr)
n.58G>A
9g.127824351_127824352delCA2695211229ENGc.543_544del (p.Ala182ArgfsTer?)
c.1089_1090del (p.Ala364ArgfsTer?)
n.57_58del
9g.127824349A=CA1879972546ENGc.543T= (p.Cys181=)
c.1089T= (p.Cys363=)
n.57T=
9g.127824349A>CCA374980741ENGc.543T>G (p.Cys181Trp)
c.1089T>G (p.Cys363Trp)
n.57T>G
 ClinVar dbSNP
9g.127824349A>GCA5252888ENGc.543T>C (p.Cys181=)
c.1089T>C (p.Cys363=)
n.57T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.127824349A>TCA374980742ENGc.543T>A (p.Cys181Ter)
c.1089T>A (p.Cys363Ter)
n.57T>A
9g.127824350C>ACA374980743ENGc.542G>T (p.Cys181Phe)
c.1088G>T (p.Cys363Phe)
n.56G>T
9g.127824350C=CA1879972553ENGc.542G= (p.Cys181=)
c.1088G= (p.Cys363=)
n.56G=
9g.127824350C>GCA374980745ENGc.542G>C (p.Cys181Ser)
c.1088G>C (p.Cys363Ser)
n.56G>C
 ClinVar dbSNP
9g.127824350C>TCA374980744ENGc.542G>A (p.Cys181Tyr)
c.1088G>A (p.Cys363Tyr)
n.56G>A
 ClinVar
9g.127824350dupCA2580079622ENGc.542dup (p.Cys181TrpfsTer?)
c.1088dup (p.Cys363TrpfsTer?)
n.56dup
 ClinVar
9g.127824351A>CCA374980746ENGc.541T>G (p.Cys181Gly)
c.1087T>G (p.Cys363Gly)
n.55T>G
 ClinVar
9g.127824351A>GCA374980748ENGc.541T>C (p.Cys181Arg)
c.1087T>C (p.Cys363Arg)
n.55T>C
 ClinVar dbSNP
9g.127824351A>TCA374980747ENGc.541T>A (p.Cys181Ser)
c.1087T>A (p.Cys363Ser)
n.55T>A
9g.127824352C>ACA374980749ENGc.540G>T (p.Lys180Asn)
c.1086G>T (p.Lys362Asn)
n.54G>T
9g.127824352C>GCA374980750ENGc.540G>C (p.Lys180Asn)
c.1086G>C (p.Lys362Asn)
n.54G>C
9g.127824352C>TCA467230615ENGc.540G>A (p.Lys180=)
c.1086G>A (p.Lys362=)
n.54G>A
9g.127824352_127824354delinsCTTCA1879972561ENGc.538_540delinsAAG (p.Lys180=)
c.1084_1086delinsAAG (p.Lys362=)
n.52_54delinsAAG
9g.127824353T>ACA374980751ENGc.539A>T (p.Lys180Met)
c.1085A>T (p.Lys362Met)
n.53A>T
9g.127824353T>CCA374980752ENGc.539A>G (p.Lys180Arg)
c.1085A>G (p.Lys362Arg)
n.53A>G
9g.127824353T>GCA374980753ENGc.539A>C (p.Lys180Thr)
c.1085A>C (p.Lys362Thr)
n.53A>C
 dbSNP gnomAD v2 gnomAD v4
9g.127824353T=CA1879972569ENGc.539A= (p.Lys180=)
c.1085A= (p.Lys362=)
n.53A=
9g.127824355dupCA2695211232ENGc.539dup (p.Cys181ValfsTer?)
c.1085dup (p.Cys363ValfsTer?)
n.53dup
9g.127824355delCA2695211233ENGc.539del (p.Lys180SerfsTer7)
c.1085del (p.Lys362SerfsTer7)
n.53del
9g.127824354_127824355delCA645372488ENGc.538_539del (p.Lys180ValfsTer?)
c.1084_1085del (p.Lys362ValfsTer?)
n.52_53del
 ClinVar dbSNP
9g.127824354T>ACA374980754ENGc.538A>T (p.Lys180Ter)
c.1084A>T (p.Lys362Ter)
n.52A>T
9g.127824354T>CCA374980755ENGc.538A>G (p.Lys180Glu)
c.1084A>G (p.Lys362Glu)
n.52A>G
9g.127824354T>GCA374980756ENGc.538A>C (p.Lys180Gln)
c.1084A>C (p.Lys362Gln)
n.52A>C
9g.127824354_127824358delinsTTGTCCA1879972573ENGc.534_538delinsGACAA (p.Gln178=)
c.1080_1084delinsGACAA (p.Gln360=)
n.48_52delinsGACAA
9g.127824355T>ACA467230619ENGc.537A>T (p.Thr179=)
c.1083A>T (p.Thr361=)
n.51A>T
9g.127824355T>CCA467230620ENGc.537A>G (p.Thr179=)
c.1083A>G (p.Thr361=)
n.51A>G
 gnomAD v4
9g.127824355T>GCA5252889ENGc.537A>C (p.Thr179=)
c.1083A>C (p.Thr361=)
n.51A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.127824355T=CA1879972576ENGc.537A= (p.Thr179=)
c.1083A= (p.Thr361=)
n.51A=
9g.127824357_127824360delCA324999ENGc.534_537del (p.Thr179SerfsTer7)
c.1080_1083del (p.Thr361SerfsTer7)
n.48_51del
 ClinVar dbSNP gnomAD v4
9g.127824356G>ACA374980759ENGc.536C>T (p.Thr179Ile)
c.1082C>T (p.Thr361Ile)
n.50C>T
 dbSNP gnomAD v4
9g.127824356G>CCA374980758ENGc.536C>G (p.Thr179Arg)
c.1082C>G (p.Thr361Arg)
n.50C>G
9g.127824356G=CA1879972580ENGc.536C= (p.Thr179=)
c.1082C= (p.Thr361=)
n.50C=
9g.127824356G>TCA374980757ENGc.536C>A (p.Thr179Lys)
c.1082C>A (p.Thr361Lys)
n.50C>A
9g.127824357T>ACA374980760ENGc.535A>T (p.Thr179Ser)
c.1081A>T (p.Thr361Ser)
n.49A>T
9g.127824357T>CCA374980761ENGc.535A>G (p.Thr179Ala)
c.1081A>G (p.Thr361Ala)
n.49A>G
9g.127824357T>GCA374980762ENGc.535A>C (p.Thr179Pro)
c.1081A>C (p.Thr361Pro)
n.49A>C
9g.127824358C>ACA374980763ENGc.534G>T (p.Gln178His)
c.1080G>T (p.Gln360His)
n.48G>T
9g.127824358C>GCA374980764ENGc.534G>C (p.Gln178His)
c.1080G>C (p.Gln360His)
n.48G>C
9g.127824358C>TCA467230626ENGc.534G>A (p.Gln178=)
c.1080G>A (p.Gln360=)
n.48G>A
9g.127824358_127824367dupCA2580079624ENGc.525_534dup (p.Thr179LeufsTer?)
c.1071_1080dup (p.Thr361LeufsTer?)
n.39_48dup
 ClinVar
9g.127824359T>ACA374980765ENGc.533A>T (p.Gln178Leu)
c.1079A>T (p.Gln360Leu)
n.47A>T
9g.127824359T>CCA374980766ENGc.533A>G (p.Gln178Arg)
c.1079A>G (p.Gln360Arg)
n.47A>G
 dbSNP gnomAD v2 gnomAD v4
9g.127824359T>GCA374980767ENGc.533A>C (p.Gln178Pro)
c.1079A>C (p.Gln360Pro)
n.47A>C
9g.127824359T=CA1879972587ENGc.533A= (p.Gln178=)
c.1079A= (p.Gln360=)
n.47A=
9g.127824360G>ACA374980768ENGc.532C>T (p.Gln178Ter)
c.1078C>T (p.Gln360Ter)
n.46C>T
 ClinVar
9g.127824360G>CCA374980769ENGc.532C>G (p.Gln178Glu)
c.1078C>G (p.Gln360Glu)
n.46C>G
9g.127824360G>TCA374980770ENGc.532C>A (p.Gln178Lys)
c.1078C>A (p.Gln360Lys)
n.46C>A
9g.127824361G>ACA467230628ENGc.531C>T (p.Ile177=)
c.1077C>T (p.Ile359=)
n.45C>T
9g.127824361G>CCA374980771ENGc.531C>G (p.Ile177Met)
c.1077C>G (p.Ile359Met)
n.45C>G
 COSMIC COSMIC
9g.127824361G=CA1879972594ENGc.531C= (p.Ile177=)
c.1077C= (p.Ile359=)
n.45C=
9g.127824361G>TCA467230630ENGc.531C>A (p.Ile177=)
c.1077C>A (p.Ile359=)
n.45C>A
 ClinVar dbSNP gnomAD v4
9g.127824362A>CCA374980773ENGc.530T>G (p.Ile177Ser)
c.1076T>G (p.Ile359Ser)
n.44T>G
 ClinVar
9g.127824362A>GCA374980774ENGc.530T>C (p.Ile177Thr)
c.1076T>C (p.Ile359Thr)
n.44T>C
 ClinVar
9g.127824362A>TCA374980772ENGc.530T>A (p.Ile177Asn)
c.1076T>A (p.Ile359Asn)
n.44T>A
 ClinVar dbSNP
9g.127824362dupCA2573143987ENGc.530dup (p.Gln178ProfsTer?)
c.1076dup (p.Gln360ProfsTer?)
n.44dup
 ClinVar dbSNP
9g.127824363T>ACA374980775ENGc.529A>T (p.Ile177Phe)
c.1075A>T (p.Ile359Phe)
n.43A>T
9g.127824363T>CCA374980776ENGc.529A>G (p.Ile177Val)
c.1075A>G (p.Ile359Val)
n.43A>G
9g.127824363T>GCA374980777ENGc.529A>C (p.Ile177Leu)
c.1075A>C (p.Ile359Leu)
n.43A>C
9g.127824364C>ACA374980778ENGc.528G>T (p.Leu176Phe)
c.1074G>T (p.Leu358Phe)
n.42G>T
9g.127824364C>GCA374980779ENGc.528G>C (p.Leu176Phe)
c.1074G>C (p.Leu358Phe)
n.42G>C
9g.127824364C>TCA467230633ENGc.528G>A (p.Leu176=)
c.1074G>A (p.Leu358=)
n.42G>A
9g.127824365A>CCA374980780ENGc.527T>G (p.Leu176Trp)
c.1073T>G (p.Leu358Trp)
n.41T>G
9g.127824365A>GCA374980781ENGc.527T>C (p.Leu176Ser)
c.1073T>C (p.Leu358Ser)
n.41T>C
9g.127824365A>TCA374980782ENGc.527T>A (p.Leu176Ter)
c.1073T>A (p.Leu358Ter)
n.41T>A
9g.127824366A>CCA374980783ENGc.526T>G (p.Leu176Val)
c.1072T>G (p.Leu358Val)
n.40T>G
9g.127824366A>GCA467230636ENGc.526T>C (p.Leu176=)
c.1072T>C (p.Leu358=)
n.40T>C
 dbSNP
9g.127824366A>TCA374980784ENGc.526T>A (p.Leu176Met)
c.1072T>A (p.Leu358Met)
n.40T>A
9g.127824367G>ACA467230637ENGc.525C>T (p.Ser175=)
c.1071C>T (p.Ser357=)
n.39C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.127824367G>CCA467230638ENGc.525C>G (p.Ser175=)
c.1071C>G (p.Ser357=)
n.39C>G
9g.127824367G=CA1879972595ENGc.525C= (p.Ser175=)
c.1071C= (p.Ser357=)
n.39C=
9g.127824367G>TCA467230639ENGc.525C>A (p.Ser175=)
c.1071C>A (p.Ser357=)
n.39C>A
9g.127824368G>ACA374981440ENGc.524C>T (p.Ser175Phe)
c.1070C>T (p.Ser357Phe)
n.38C>T
9g.127824368G>CCA374981442ENGc.524C>G (p.Ser175Cys)
c.1070C>G (p.Ser357Cys)
n.38C>G
9g.127824368G>TCA374981444ENGc.524C>A (p.Ser175Tyr)
c.1070C>A (p.Ser357Tyr)
n.38C>A
9g.127824369A>CCA374981456ENGc.523T>G (p.Ser175Ala)
c.1069T>G (p.Ser357Ala)
n.37T>G
9g.127824369A>GCA374981455ENGc.523T>C (p.Ser175Pro)
c.1069T>C (p.Ser357Pro)
n.37T>C
9g.127824369A>TCA374981446ENGc.523T>A (p.Ser175Thr)
c.1069T>A (p.Ser357Thr)
n.37T>A
9g.127824370C>ACA374981458ENGc.522G>T (p.Met174Ile)
c.1068G>T (p.Met356Ile)
n.36G>T
9g.127824370C>GCA374981459ENGc.522G>C (p.Met174Ile)
c.1068G>C (p.Met356Ile)
n.36G>C
9g.127824370C>TCA374981461ENGc.522G>A (p.Met174Ile)
c.1068G>A (p.Met356Ile)
n.36G>A
9g.127824371A=CA1879972603ENGc.521T= (p.Met174=)
c.1067T= (p.Met356=)
n.35T=
9g.127824371A>CCA374981464ENGc.521T>G (p.Met174Arg)
c.1067T>G (p.Met356Arg)
n.35T>G
 ClinVar dbSNP
9g.127824371A>GCA5252890ENGc.521T>C (p.Met174Thr)
c.1067T>C (p.Met356Thr)
n.35T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824371A>TCA5252891ENGc.521T>A (p.Met174Lys)
c.1067T>A (p.Met356Lys)
n.35T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824372T>ACA374981467ENGc.520A>T (p.Met174Leu)
c.1066A>T (p.Met356Leu)
n.34A>T
9g.127824372T>CCA374981468ENGc.520A>G (p.Met174Val)
c.1066A>G (p.Met356Val)
n.34A>G
 gnomAD v4
9g.127824372T>GCA374981471ENGc.520A>C (p.Met174Leu)
c.1066A>C (p.Met356Leu)
n.34A>C
9g.127824373G>ACA467230798ENGc.519C>T (p.Leu173=)
c.1065C>T (p.Leu355=)
n.33C>T
 gnomAD v4
9g.127824373G>CCA467230799ENGc.519C>G (p.Leu173=)
c.1065C>G (p.Leu355=)
n.33C>G
9g.127824373G>TCA467230801ENGc.519C>A (p.Leu173=)
c.1065C>A (p.Leu355=)
n.33C>A
9g.127824374A>CCA374981473ENGc.518T>G (p.Leu173Arg)
c.1064T>G (p.Leu355Arg)
n.32T>G
9g.127824374A>GCA374981475ENGc.518T>C (p.Leu173Pro)
c.1064T>C (p.Leu355Pro)
n.32T>C
 ClinVar
9g.127824374A>TCA374981477ENGc.518T>A (p.Leu173His)
c.1064T>A (p.Leu355His)
n.32T>A
9g.127824375G>ACA374981480ENGc.517C>T (p.Leu173Phe)
c.1063C>T (p.Leu355Phe)
n.31C>T
 ClinVar dbSNP gnomAD v4
9g.127824375G>CCA374981483ENGc.517C>G (p.Leu173Val)
c.1063C>G (p.Leu355Val)
n.31C>G
9g.127824375G=CA1879972614ENGc.517C= (p.Leu173=)
c.1063C= (p.Leu355=)
n.31C=
9g.127824375G>TCA374981482ENGc.517C>A (p.Leu173Ile)
c.1063C>A (p.Leu355Ile)
n.31C>A
9g.127824376C>ACA467230802ENGc.516G>T (p.Leu172=)
c.1062G>T (p.Leu354=)
n.30G>T
 dbSNP
9g.127824376C=CA1879972617ENGc.516G= (p.Leu172=)
c.1062G= (p.Leu354=)
n.30G=
9g.127824376C>GCA467230803ENGc.516G>C (p.Leu172=)
c.1062G>C (p.Leu354=)
n.30G>C
 dbSNP gnomAD v2 gnomAD v4
9g.127824376C>TCA467230804ENGc.516G>A (p.Leu172=)
c.1062G>A (p.Leu354=)
n.30G>A
9g.127824377A>CCA374981486ENGc.515T>G (p.Leu172Arg)
c.1061T>G (p.Leu354Arg)
n.29T>G
9g.127824377A>GCA374981491ENGc.515T>C (p.Leu172Pro)
c.1061T>C (p.Leu354Pro)
n.29T>C
9g.127824377A>TCA374981489ENGc.515T>A (p.Leu172Gln)
c.1061T>A (p.Leu354Gln)
n.29T>A
9g.127824377_127824409delinsAGCTCCGGGCTACAAGTGTCCTTGGGAGGAGTGCA1879972619ENGc.483_515delinsCACTCCTCCCAAGGACACTTGTAGCCCGGAGCT (p.Thr161=)
c.1029_1061delinsCACTCCTCCCAAGGACACTTGTAGCCCGGAGCT (p.Thr343=)
9g.127824378G>ACA290735ENGc.514C>T (p.Leu172=)
c.1060C>T (p.Leu354=)
n.28C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.127824378G>CCA374981499ENGc.514C>G (p.Leu172Val)
c.1060C>G (p.Leu354Val)
n.28C>G
 dbSNP
9g.127824378G=CA1879972626ENGc.514C= (p.Leu172=)
c.1060C= (p.Leu354=)
n.28C=
9g.127824378G>TCA374981496ENGc.514C>A (p.Leu172Met)
c.1060C>A (p.Leu354Met)
n.28C>A
 gnomAD v4
9g.127824378_127824409delinsCCACCATCA16612700ENGc.483_514delinsATGGTGG (p.Thr162TrpfsTer7)
c.1029_1060delinsATGGTGG (p.Thr344TrpfsTer7)
 ClinVar dbSNP
9g.127824379C>ACA374981505ENGc.513G>T (p.Glu171Asp)
c.1059G>T (p.Glu353Asp)
n.27G>T
9g.127824379C>GCA374981507ENGc.513G>C (p.Glu171Asp)
c.1059G>C (p.Glu353Asp)
n.27G>C
9g.127824379C>TCA467230807ENGc.513G>A (p.Glu171=)
c.1059G>A (p.Glu353=)
n.27G>A
9g.127824380T>ACA374981511ENGc.512A>T (p.Glu171Val)
c.1058A>T (p.Glu353Val)
n.26A>T
9g.127824380T>CCA200312628ENGc.512A>G (p.Glu171Gly)
c.1058A>G (p.Glu353Gly)
n.26A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.127824380T>GCA374981516ENGc.512A>C (p.Glu171Ala)
c.1058A>C (p.Glu353Ala)
n.26A>C
9g.127824380T=CA1879972636ENGc.512A= (p.Glu171=)
c.1058A= (p.Glu353=)
n.26A=
9g.127824381C>ACA374981519ENGc.511G>T (p.Glu171Ter)
c.1057G>T (p.Glu353Ter)
n.25G>T
9g.127824381C=CA1879972638ENGc.511G= (p.Glu171=)
c.1057G= (p.Glu353=)
n.25G=
9g.127824381C>GCA374981521ENGc.511G>C (p.Glu171Gln)
c.1057G>C (p.Glu353Gln)
n.25G>C
 dbSNP gnomAD v2 gnomAD v4
9g.127824381C>TCA374981524ENGc.511G>A (p.Glu171Lys)
c.1057G>A (p.Glu353Lys)
n.25G>A
 gnomAD v4
9g.127824382C>ACA467230810ENGc.510G>T (p.Pro170=)
c.1056G>T (p.Pro352=)
n.24G>T
9g.127824382C=CA1879972642ENGc.510G= (p.Pro170=)
c.1056G= (p.Pro352=)
n.24G=
9g.127824382C>GCA467230809ENGc.510G>C (p.Pro170=)
c.1056G>C (p.Pro352=)
n.24G>C
 dbSNP COSMIC COSMIC
9g.127824382C>TCA5252892ENGc.510G>A (p.Pro170=)
c.1056G>A (p.Pro352=)
n.24G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched