Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.67490708_67490777delCA2614625447AIPc.1015_1084del
c.599-80_599-11del (n.599-80_599-11del)
n.1550_1619del
c.469-289_469-220del (n.469-289_469-220del)
c.419-80_419-11del (n.419-80_419-11del)
c.788-80_788-11del (n.788-80_788-11del)
c.780-80_780-11del (n.780-80_780-11del)
c.611-80_611-11del (n.611-80_611-11del)
c.788-91_788-22del (n.788-91_788-22del)
c.608-80_608-11del (n.608-80_608-11del)
 gnomAD v4
11g.67490771_67490777delCA6140978AIPc.1078_1084del
c.599-17_599-11del (n.599-17_599-11del)
n.1613_1619del
c.469-226_469-220del (n.469-226_469-220del)
c.419-17_419-11del (n.419-17_419-11del)
c.788-17_788-11del (n.788-17_788-11del)
c.780-17_780-11del (n.780-17_780-11del)
c.611-17_611-11del (n.611-17_611-11del)
c.788-28_788-22del (n.788-28_788-22del)
c.608-17_608-11del (n.608-17_608-11del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490776C>ACA6140979AIPc.1083C>A
c.599-12C>A (n.599-12C>A)
n.1618C>A
c.469-221C>A (n.469-221C>A)
c.419-12C>A (n.419-12C>A)
c.788-12C>A (n.788-12C>A)
c.780-12C>A (n.780-12C>A)
c.611-12C>A (n.611-12C>A)
c.788-23C>A (n.788-23C>A)
c.608-12C>A (n.608-12C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490776C=CA1980172630AIPc.1083C=
c.599-12C= (n.599-12C=)
n.1618C=
c.469-221C= (n.469-221C=)
c.419-12C= (n.419-12C=)
c.788-12C= (n.788-12C=)
c.780-12C= (n.780-12C=)
c.611-12C= (n.611-12C=)
c.788-23C= (n.788-23C=)
c.608-12C= (n.608-12C=)
11g.67490776C>TCA2574896310AIPc.1083C>T
c.599-12C>T (n.599-12C>T)
n.1618C>T
c.469-221C>T (n.469-221C>T)
c.419-12C>T (n.419-12C>T)
c.788-12C>T (n.788-12C>T)
c.780-12C>T (n.780-12C>T)
c.611-12C>T (n.611-12C>T)
c.788-23C>T (n.788-23C>T)
c.608-12C>T (n.608-12C>T)
 ClinVar gnomAD v4
11g.67490777C=CA1980172633AIPc.1084C=
c.599-11C= (n.599-11C=)
n.1619C=
c.469-220C= (n.469-220C=)
c.419-11C= (n.419-11C=)
c.788-11C= (n.788-11C=)
c.780-11C= (n.780-11C=)
c.611-11C= (n.611-11C=)
c.788-22C= (n.788-22C=)
c.608-11C= (n.608-11C=)
11g.67490777C>GCA1980172632AIPc.1084C>G
c.599-11C>G (n.599-11C>G)
n.1619C>G
c.469-220C>G (n.469-220C>G)
c.419-11C>G (n.419-11C>G)
c.788-11C>G (n.788-11C>G)
c.780-11C>G (n.780-11C>G)
c.611-11C>G (n.611-11C>G)
c.788-22C>G (n.788-22C>G)
c.608-11C>G (n.608-11C>G)
 ClinVar dbSNP
11g.67490777C>TCA1980172631AIPc.1084C>T
c.599-11C>T (n.599-11C>T)
n.1619C>T
c.469-220C>T (n.469-220C>T)
c.419-11C>T (n.419-11C>T)
c.788-11C>T (n.788-11C>T)
c.780-11C>T (n.780-11C>T)
c.611-11C>T (n.611-11C>T)
c.788-22C>T (n.788-22C>T)
c.608-11C>T (n.608-11C>T)
 dbSNP
11g.67490778T>GCA2573147618AIPc.1085T>G
c.599-10T>G (n.599-10T>G)
n.1620T>G
c.469-219T>G (n.469-219T>G)
c.419-10T>G (n.419-10T>G)
c.788-10T>G (n.788-10T>G)
c.780-10T>G (n.780-10T>G)
c.611-10T>G (n.611-10T>G)
c.788-21T>G (n.788-21T>G)
c.608-10T>G (n.608-10T>G)
 ClinVar dbSNP gnomAD v4
11g.67490779C>ACA2792512357AIPc.1086C>A
c.599-9C>A (n.599-9C>A)
n.1621C>A
c.469-218C>A (n.469-218C>A)
c.419-9C>A (n.419-9C>A)
c.788-9C>A (n.788-9C>A)
c.780-9C>A (n.780-9C>A)
c.611-9C>A (n.611-9C>A)
c.788-20C>A (n.788-20C>A)
c.608-9C>A (n.608-9C>A)
11g.67490779C=CA1980172634AIPc.1086C=
c.599-9C= (n.599-9C=)
n.1621C=
c.469-218C= (n.469-218C=)
c.419-9C= (n.419-9C=)
c.788-9C= (n.788-9C=)
c.780-9C= (n.780-9C=)
c.611-9C= (n.611-9C=)
c.788-20C= (n.788-20C=)
c.608-9C= (n.608-9C=)
11g.67490779C>TCA939069909AIPc.1086C>T
c.599-9C>T (n.599-9C>T)
n.1621C>T
c.469-218C>T (n.469-218C>T)
c.419-9C>T (n.419-9C>T)
c.788-9C>T (n.788-9C>T)
c.780-9C>T (n.780-9C>T)
c.611-9C>T (n.611-9C>T)
c.788-20C>T (n.788-20C>T)
c.608-9C>T (n.608-9C>T)
 ClinVar dbSNP gnomAD v4
11g.67490780C>TCA2740093083AIPc.1087C>T
c.599-8C>T (n.599-8C>T)
n.1622C>T
c.469-217C>T (n.469-217C>T)
c.419-8C>T (n.419-8C>T)
c.788-8C>T (n.788-8C>T)
c.780-8C>T (n.780-8C>T)
c.611-8C>T (n.611-8C>T)
c.788-19C>T (n.788-19C>T)
c.608-8C>T (n.608-8C>T)
 ClinVar
11g.67490782C>TCA2499221231AIPc.1089C>T
c.599-6C>T (n.599-6C>T)
n.1624C>T
c.469-215C>T (n.469-215C>T)
c.419-6C>T (n.419-6C>T)
c.788-6C>T (n.788-6C>T)
c.780-6C>T (n.780-6C>T)
c.611-6C>T (n.611-6C>T)
c.788-17C>T (n.788-17C>T)
c.608-6C>T (n.608-6C>T)
 ClinVar dbSNP gnomAD v4
11g.67490783T>CCA2580084773AIPc.1090T>C
c.599-5T>C (n.599-5T>C)
n.1625T>C
c.469-214T>C (n.469-214T>C)
c.419-5T>C (n.419-5T>C)
c.788-5T>C (n.788-5T>C)
c.780-5T>C (n.780-5T>C)
c.611-5T>C (n.611-5T>C)
c.788-16T>C (n.788-16T>C)
c.608-5T>C (n.608-5T>C)
 ClinVar gnomAD v4
11g.67490784G>CCA1980172636AIPc.1091G>C
c.599-4G>C (n.599-4G>C)
n.1626G>C
c.469-213G>C (n.469-213G>C)
c.419-4G>C (n.419-4G>C)
c.788-4G>C (n.788-4G>C)
c.780-4G>C (n.780-4G>C)
c.611-4G>C (n.611-4G>C)
c.788-15G>C (n.788-15G>C)
c.608-4G>C (n.608-4G>C)
 dbSNP
11g.67490784G=CA1980172635AIPc.1091G=
c.599-4G= (n.599-4G=)
n.1626G=
c.469-213G= (n.469-213G=)
c.419-4G= (n.419-4G=)
c.788-4G= (n.788-4G=)
c.780-4G= (n.780-4G=)
c.611-4G= (n.611-4G=)
c.788-15G= (n.788-15G=)
c.608-4G= (n.608-4G=)
11g.67490784G>TCA2573147619AIPc.1091G>T
c.599-4G>T (n.599-4G>T)
n.1626G>T
c.469-213G>T (n.469-213G>T)
c.419-4G>T (n.419-4G>T)
c.788-4G>T (n.788-4G>T)
c.780-4G>T (n.780-4G>T)
c.611-4G>T (n.611-4G>T)
c.788-15G>T (n.788-15G>T)
c.608-4G>T (n.608-4G>T)
 ClinVar dbSNP
11g.67490786A>CCA381554191AIPc.1093A>C
c.599-2A>C (n.599-2A>C)
n.1628A>C
c.469-211A>C (n.469-211A>C)
c.419-2A>C (n.419-2A>C)
c.788-2A>C (n.788-2A>C)
c.780-2A>C (n.780-2A>C)
c.611-2A>C (n.611-2A>C)
c.788-13A>C (n.788-13A>C)
c.608-2A>C (n.608-2A>C)
11g.67490786A>GCA381554198AIPc.1093A>G
c.599-2A>G (n.599-2A>G)
n.1628A>G
c.469-211A>G (n.469-211A>G)
c.419-2A>G (n.419-2A>G)
c.788-2A>G (n.788-2A>G)
c.780-2A>G (n.780-2A>G)
c.611-2A>G (n.611-2A>G)
c.788-13A>G (n.788-13A>G)
c.608-2A>G (n.608-2A>G)
11g.67490786A>TCA381554202AIPc.1093A>T
c.599-2A>T (n.599-2A>T)
n.1628A>T
c.469-211A>T (n.469-211A>T)
c.419-2A>T (n.419-2A>T)
c.788-2A>T (n.788-2A>T)
c.780-2A>T (n.780-2A>T)
c.611-2A>T (n.611-2A>T)
c.788-13A>T (n.788-13A>T)
c.608-2A>T (n.608-2A>T)
11g.67490787G>ACA381554211AIPc.1094G>A
c.599-1G>A (n.599-1G>A)
n.1629G>A
c.469-210G>A (n.469-210G>A)
c.419-1G>A (n.419-1G>A)
c.788-1G>A (n.788-1G>A)
c.780-1G>A (n.780-1G>A)
c.611-1G>A (n.611-1G>A)
c.788-12G>A (n.788-12G>A)
c.608-1G>A (n.608-1G>A)
11g.67490787G>CCA381554213AIPc.1094G>C
c.599-1G>C (n.599-1G>C)
n.1629G>C
c.469-210G>C (n.469-210G>C)
c.419-1G>C (n.419-1G>C)
c.788-1G>C (n.788-1G>C)
c.780-1G>C (n.780-1G>C)
c.611-1G>C (n.611-1G>C)
c.788-12G>C (n.788-12G>C)
c.608-1G>C (n.608-1G>C)
11g.67490787G>TCA381554215AIPc.1094G>T
c.599-1G>T (n.599-1G>T)
n.1629G>T
c.469-210G>T (n.469-210G>T)
c.419-1G>T (n.419-1G>T)
c.788-1G>T (n.788-1G>T)
c.780-1G>T (n.780-1G>T)
c.611-1G>T (n.611-1G>T)
c.788-12G>T (n.788-12G>T)
c.608-1G>T (n.608-1G>T)
11g.67490787_67490790delinsGACACA1980172637AIPc.1094_1097delinsGACA
c.599-1_601delinsGACA
n.1629_1632delinsGACA
c.469-210_469-207delinsGACA (n.469-210_469-207delinsGACA)
c.419-1_421delinsGACA
c.788-1_790delinsGACA
c.780-1_782delinsGACA
c.611-1_613delinsGACA
c.788-12_788-9delinsGACA (n.788-12_788-9delinsGACA)
c.608-1_610delinsGACA
11g.67490788A>CCA381554243AIPc.1095A>C
c.599A>C (p.Asp200Ala)
n.1630A>C
c.469-209A>C (n.469-209A>C)
c.419A>C (p.Asp140Ala)
c.788A>C (p.Asp263Ala)
c.780A>C (p.Lys260Asn)
c.611A>C (p.Asp204Ala)
c.788-11A>C (n.788-11A>C)
c.608A>C (p.Asp203Ala)
11g.67490788A>GCA381554231AIPc.1095A>G
c.599A>G (p.Asp200Gly)
n.1630A>G
c.469-209A>G (n.469-209A>G)
c.419A>G (p.Asp140Gly)
c.788A>G (p.Asp263Gly)
c.780A>G (p.Lys260=)
c.611A>G (p.Asp204Gly)
c.788-11A>G (n.788-11A>G)
c.608A>G (p.Asp203Gly)
11g.67490788A>TCA381554227AIPc.1095A>T
c.599A>T (p.Asp200Val)
n.1630A>T
c.469-209A>T (n.469-209A>T)
c.419A>T (p.Asp140Val)
c.788A>T (p.Asp263Val)
c.780A>T (p.Lys260Asn)
c.611A>T (p.Asp204Val)
c.788-11A>T (n.788-11A>T)
c.608A>T (p.Asp203Val)
11g.67490790_67490792delCA6140980AIPc.1097_1099del
c.601_603del (p.Asn201del)
n.1632_1634del
c.469-207_469-205del (n.469-207_469-205del)
c.421_423del (p.Asn141del)
c.790_792del (p.Asn264del)
c.782_784del (p.Gln261del)
c.613_615del (p.Asn205del)
c.788-9_788-7del (n.788-9_788-7del)
c.610_612del (p.Asn204del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490789C>ACA381554260AIPc.1096C>A
c.600C>A (p.Asp200Glu)
n.1631C>A
c.469-208C>A (n.469-208C>A)
c.420C>A (p.Asp140Glu)
c.789C>A (p.Asp263Glu)
c.781C>A (p.Gln261Lys)
c.612C>A (p.Asp204Glu)
c.788-10C>A (n.788-10C>A)
c.609C>A (p.Asp203Glu)
11g.67490789C>GCA381554269AIPc.1096C>G
c.600C>G (p.Asp200Glu)
n.1631C>G
c.469-208C>G (n.469-208C>G)
c.420C>G (p.Asp140Glu)
c.789C>G (p.Asp263Glu)
c.781C>G (p.Gln261Glu)
c.612C>G (p.Asp204Glu)
c.788-10C>G (n.788-10C>G)
c.609C>G (p.Asp203Glu)
11g.67490789C>TCA475509152AIPc.1096C>T
c.600C>T (p.Asp200=)
n.1631C>T
c.469-208C>T (n.469-208C>T)
c.420C>T (p.Asp140=)
c.789C>T (p.Asp263=)
c.781C>T (p.Gln261Ter)
c.612C>T (p.Asp204=)
c.788-10C>T (n.788-10C>T)
c.609C>T (p.Asp203=)
 gnomAD v4
11g.67490790A>CCA381554277AIPc.1097A>C
c.601A>C (p.Asn201His)
n.1632A>C
c.469-207A>C (n.469-207A>C)
c.421A>C (p.Asn141His)
c.790A>C (p.Asn264His)
c.782A>C (p.Gln261Pro)
c.613A>C (p.Asn205His)
c.788-9A>C (n.788-9A>C)
c.610A>C (p.Asn204His)
11g.67490790A>GCA381554279AIPc.1097A>G
c.601A>G (p.Asn201Asp)
n.1632A>G
c.469-207A>G (n.469-207A>G)
c.421A>G (p.Asn141Asp)
c.790A>G (p.Asn264Asp)
c.782A>G (p.Gln261Arg)
c.613A>G (p.Asn205Asp)
c.788-9A>G (n.788-9A>G)
c.610A>G (p.Asn204Asp)
 ClinVar dbSNP
11g.67490790A>TCA381554282AIPc.1097A>T
c.601A>T (p.Asn201Tyr)
n.1632A>T
c.469-207A>T (n.469-207A>T)
c.421A>T (p.Asn141Tyr)
c.790A>T (p.Asn264Tyr)
c.782A>T (p.Gln261Leu)
c.613A>T (p.Asn205Tyr)
c.788-9A>T (n.788-9A>T)
c.610A>T (p.Asn204Tyr)
11g.67490791A>CCA381554284AIPc.1098A>C
c.602A>C (p.Asn201Thr)
n.1633A>C
c.469-206A>C (n.469-206A>C)
c.422A>C (p.Asn141Thr)
c.791A>C (p.Asn264Thr)
c.783A>C (p.Gln261His)
c.614A>C (p.Asn205Thr)
c.788-8A>C (n.788-8A>C)
c.611A>C (p.Asn204Thr)
 ClinVar
11g.67490791A>GCA381554285AIPc.1098A>G
c.602A>G (p.Asn201Ser)
n.1633A>G
c.469-206A>G (n.469-206A>G)
c.422A>G (p.Asn141Ser)
c.791A>G (p.Asn264Ser)
c.783A>G (p.Gln261=)
c.614A>G (p.Asn205Ser)
c.788-8A>G (n.788-8A>G)
c.611A>G (p.Asn204Ser)
11g.67490791A>TCA381554286AIPc.1098A>T
c.602A>T (p.Asn201Ile)
n.1633A>T
c.469-206A>T (n.469-206A>T)
c.422A>T (p.Asn141Ile)
c.791A>T (p.Asn264Ile)
c.783A>T (p.Gln261His)
c.614A>T (p.Asn205Ile)
c.788-8A>T (n.788-8A>T)
c.611A>T (p.Asn204Ile)
11g.67490792C>ACA381554288AIPc.1099C>A
c.603C>A (p.Asn201Lys)
n.1634C>A
c.469-205C>A (n.469-205C>A)
c.423C>A (p.Asn141Lys)
c.792C>A (p.Asn264Lys)
c.784C>A (p.Arg262Ser)
c.615C>A (p.Asn205Lys)
c.788-7C>A (n.788-7C>A)
c.612C>A (p.Asn204Lys)
11g.67490792C=CA1980172638AIPc.1099C=
c.603C= (p.Asn201=)
n.1634C=
c.469-205C= (n.469-205C=)
c.423C= (p.Asn141=)
c.792C= (p.Asn264=)
c.784C= (p.Arg262=)
c.615C= (p.Asn205=)
c.788-7C= (n.788-7C=)
c.612C= (p.Asn204=)
11g.67490792C>GCA381554291AIPc.1099C>G
c.603C>G (p.Asn201Lys)
n.1634C>G
c.469-205C>G (n.469-205C>G)
c.423C>G (p.Asn141Lys)
c.792C>G (p.Asn264Lys)
c.784C>G (p.Arg262Gly)
c.615C>G (p.Asn205Lys)
c.788-7C>G (n.788-7C>G)
c.612C>G (p.Asn204Lys)
11g.67490792C>TCA6140981AIPc.1099C>T
c.603C>T (p.Asn201=)
n.1634C>T
c.469-205C>T (n.469-205C>T)
c.423C>T (p.Asn141=)
c.792C>T (p.Asn264=)
c.784C>T (p.Arg262Cys)
c.615C>T (p.Asn205=)
c.788-7C>T (n.788-7C>T)
c.612C>T (p.Asn204=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490793G>ACA6140982AIPc.1100G>A
c.604G>A (p.Val202Ile)
n.1635G>A
c.469-204G>A (n.469-204G>A)
c.424G>A (p.Val142Ile)
c.793G>A (p.Val265Ile)
c.785G>A (p.Arg262His)
c.616G>A (p.Val206Ile)
c.788-6G>A (n.788-6G>A)
c.613G>A (p.Val205Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490793G>CCA381554307AIPc.1100G>C
c.604G>C (p.Val202Leu)
n.1635G>C
c.469-204G>C (n.469-204G>C)
c.424G>C (p.Val142Leu)
c.793G>C (p.Val265Leu)
c.785G>C (p.Arg262Pro)
c.616G>C (p.Val206Leu)
c.788-6G>C (n.788-6G>C)
c.613G>C (p.Val205Leu)
11g.67490793G=CA1980172639AIPc.1100G=
c.604G= (p.Val202=)
n.1635G=
c.469-204G= (n.469-204G=)
c.424G= (p.Val142=)
c.793G= (p.Val265=)
c.785G= (p.Arg262=)
c.616G= (p.Val206=)
c.788-6G= (n.788-6G=)
c.613G= (p.Val205=)
11g.67490793G>TCA381554296AIPc.1100G>T
c.604G>T (p.Val202Phe)
n.1635G>T
c.469-204G>T (n.469-204G>T)
c.424G>T (p.Val142Phe)
c.793G>T (p.Val265Phe)
c.785G>T (p.Arg262Leu)
c.616G>T (p.Val206Phe)
c.788-6G>T (n.788-6G>T)
c.613G>T (p.Val205Phe)
11g.67490794T>ACA381554315AIPc.1101T>A
c.605T>A (p.Val202Asp)
n.1636T>A
c.469-203T>A (n.469-203T>A)
c.425T>A (p.Val142Asp)
c.794T>A (p.Val265Asp)
c.786T>A (p.Arg262=)
c.617T>A (p.Val206Asp)
c.788-5T>A (n.788-5T>A)
c.614T>A (p.Val205Asp)
11g.67490794T>CCA381554318AIPc.1101T>C
c.605T>C (p.Val202Ala)
n.1636T>C
c.469-203T>C (n.469-203T>C)
c.425T>C (p.Val142Ala)
c.794T>C (p.Val265Ala)
c.786T>C (p.Arg262=)
c.617T>C (p.Val206Ala)
c.788-5T>C (n.788-5T>C)
c.614T>C (p.Val205Ala)
11g.67490794T>GCA381554319AIPc.1101T>G
c.605T>G (p.Val202Gly)
n.1636T>G
c.469-203T>G (n.469-203T>G)
c.425T>G (p.Val142Gly)
c.794T>G (p.Val265Gly)
c.786T>G (p.Arg262=)
c.617T>G (p.Val206Gly)
c.788-5T>G (n.788-5T>G)
c.614T>G (p.Val205Gly)
11g.67490795C>ACA475509406AIPc.1102C>A
c.606C>A (p.Val202=)
n.1637C>A
c.469-202C>A (n.469-202C>A)
c.426C>A (p.Val142=)
c.795C>A (p.Val265=)
c.787C>A (p.Gln263Lys)
c.618C>A (p.Val206=)
c.788-4C>A (n.788-4C>A)
c.615C>A (p.Val205=)
11g.67490795C>GCA475509405AIPc.1102C>G
c.606C>G (p.Val202=)
n.1637C>G
c.469-202C>G (n.469-202C>G)
c.426C>G (p.Val142=)
c.795C>G (p.Val265=)
c.787C>G (p.Gln263Glu)
c.618C>G (p.Val206=)
c.788-4C>G (n.788-4C>G)
c.615C>G (p.Val205=)
 ClinVar gnomAD v4
11g.67490795C>TCA475509404AIPc.1102C>T
c.606C>T (p.Val202=)
n.1637C>T
c.469-202C>T (n.469-202C>T)
c.426C>T (p.Val142=)
c.795C>T (p.Val265=)
c.787C>T (p.Gln263Ter)
c.618C>T (p.Val206=)
c.788-4C>T (n.788-4C>T)
c.615C>T (p.Val205=)
11g.67490796A>CCA381554325AIPc.1103A>C
c.607A>C (p.Lys203Gln)
n.1638A>C
c.469-201A>C (n.469-201A>C)
c.427A>C (p.Lys143Gln)
c.796A>C (p.Lys266Gln)
c.788A>C (p.Gln263Pro)
c.619A>C (p.Lys207Gln)
c.788-3A>C (n.788-3A>C)
c.616A>C (p.Lys206Gln)
11g.67490796A>GCA381554328AIPc.1103A>G
c.607A>G (p.Lys203Glu)
n.1638A>G
c.469-201A>G (n.469-201A>G)
c.427A>G (p.Lys143Glu)
c.796A>G (p.Lys266Glu)
c.788A>G (p.Gln263Arg)
c.619A>G (p.Lys207Glu)
c.788-3A>G (n.788-3A>G)
c.616A>G (p.Lys206Glu)
11g.67490796A>TCA381554329AIPc.1103A>T
c.607A>T (p.Lys203Ter)
n.1638A>T
c.469-201A>T (n.469-201A>T)
c.427A>T (p.Lys143Ter)
c.796A>T (p.Lys266Ter)
c.788A>T (p.Gln263Leu)
c.619A>T (p.Lys207Ter)
c.788-3A>T (n.788-3A>T)
c.616A>T (p.Lys206Ter)
11g.67490797A>CCA381554334AIPc.1104A>C
c.608A>C (p.Lys203Thr)
n.1639A>C
c.469-200A>C (n.469-200A>C)
c.428A>C (p.Lys143Thr)
c.797A>C (p.Lys266Thr)
c.789A>C (p.Gln263His)
c.620A>C (p.Lys207Thr)
c.788-2A>C (n.788-2A>C)
c.617A>C (p.Lys206Thr)
11g.67490797A>GCA381554330AIPc.1104A>G
c.608A>G (p.Lys203Arg)
n.1639A>G
c.469-200A>G (n.469-200A>G)
c.428A>G (p.Lys143Arg)
c.797A>G (p.Lys266Arg)
c.789A>G (p.Gln263=)
c.620A>G (p.Lys207Arg)
c.788-2A>G (n.788-2A>G)
c.617A>G (p.Lys206Arg)
11g.67490797A>TCA381554331AIPc.1104A>T
c.608A>T (p.Lys203Met)
n.1639A>T
c.469-200A>T (n.469-200A>T)
c.428A>T (p.Lys143Met)
c.797A>T (p.Lys266Met)
c.789A>T (p.Gln263His)
c.620A>T (p.Lys207Met)
c.788-2A>T (n.788-2A>T)
c.617A>T (p.Lys206Met)
11g.67490798G>ACA475509411AIPc.1105G>A
c.609G>A (p.Lys203=)
n.1640G>A
c.469-199G>A (n.469-199G>A)
c.429G>A (p.Lys143=)
c.798G>A (p.Lys266=)
c.790G>A (p.Gly264Ser)
c.621G>A (p.Lys207=)
c.788-1G>A (n.788-1G>A)
c.618G>A (p.Lys206=)
11g.67490798G>CCA381554337AIPc.1105G>C
c.609G>C (p.Lys203Asn)
n.1640G>C
c.469-199G>C (n.469-199G>C)
c.429G>C (p.Lys143Asn)
c.798G>C (p.Lys266Asn)
c.790G>C (p.Gly264Arg)
c.621G>C (p.Lys207Asn)
c.788-1G>C (n.788-1G>C)
c.618G>C (p.Lys206Asn)
11g.67490798G>TCA381554339AIPc.1105G>T
c.609G>T (p.Lys203Asn)
n.1640G>T
c.469-199G>T (n.469-199G>T)
c.429G>T (p.Lys143Asn)
c.798G>T (p.Lys266Asn)
c.790G>T (p.Gly264Cys)
c.621G>T (p.Lys207Asn)
c.788-1G>T (n.788-1G>T)
c.618G>T (p.Lys206Asn)
 gnomAD v4
11g.67490799G>ACA381554341AIPc.1106G>A
c.610G>A (p.Ala204Thr)
n.1641G>A
c.469-198G>A (n.469-198G>A)
c.430G>A (p.Ala144Thr)
c.799G>A (p.Ala267Thr)
c.791G>A (p.Gly264Asp)
c.622G>A (p.Ala208Thr)
c.788G>A (p.Gly263Asp)
c.619G>A (p.Ala207Thr)
 ClinVar dbSNP
11g.67490799G>CCA381554344AIPc.1106G>C
c.610G>C (p.Ala204Pro)
n.1641G>C
c.469-198G>C (n.469-198G>C)
c.430G>C (p.Ala144Pro)
c.799G>C (p.Ala267Pro)
c.791G>C (p.Gly264Ala)
c.622G>C (p.Ala208Pro)
c.788G>C (p.Gly263Ala)
c.619G>C (p.Ala207Pro)
11g.67490799G>TCA381554349AIPc.1106G>T
c.610G>T (p.Ala204Ser)
n.1641G>T
c.469-198G>T (n.469-198G>T)
c.430G>T (p.Ala144Ser)
c.799G>T (p.Ala267Ser)
c.791G>T (p.Gly264Val)
c.622G>T (p.Ala208Ser)
c.788G>T (p.Gly263Val)
c.619G>T (p.Ala207Ser)
11g.67490800C>ACA381554355AIPc.1107C>A
c.611C>A (p.Ala204Asp)
n.1642C>A
c.469-197C>A (n.469-197C>A)
c.431C>A (p.Ala144Asp)
c.800C>A (p.Ala267Asp)
c.792C>A (p.Gly264=)
c.623C>A (p.Ala208Asp)
c.789C>A (p.Gly263=)
c.620C>A (p.Ala207Asp)
11g.67490800C>GCA381554359AIPc.1107C>G
c.611C>G (p.Ala204Gly)
n.1642C>G
c.469-197C>G (n.469-197C>G)
c.431C>G (p.Ala144Gly)
c.800C>G (p.Ala267Gly)
c.792C>G (p.Gly264=)
c.623C>G (p.Ala208Gly)
c.789C>G (p.Gly263=)
c.620C>G (p.Ala207Gly)
11g.67490800C>TCA381554358AIPc.1107C>T
c.611C>T (p.Ala204Val)
n.1642C>T
c.469-197C>T (n.469-197C>T)
c.431C>T (p.Ala144Val)
c.800C>T (p.Ala267Val)
c.792C>T (p.Gly264=)
c.623C>T (p.Ala208Val)
c.789C>T (p.Gly263=)
c.620C>T (p.Ala207Val)
11g.67490801C>ACA475509413AIPc.1108C>A
c.612C>A (p.Ala204=)
n.1643C>A
c.469-196C>A (n.469-196C>A)
c.432C>A (p.Ala144=)
c.801C>A (p.Ala267=)
c.793C>A (p.Leu265Ile)
c.624C>A (p.Ala208=)
c.790C>A (p.Leu264Ile)
c.621C>A (p.Ala207=)
11g.67490801C=CA1980172640AIPc.1108C=
c.612C= (p.Ala204=)
n.1643C=
c.469-196C= (n.469-196C=)
c.432C= (p.Ala144=)
c.801C= (p.Ala267=)
c.793C= (p.Leu265=)
c.624C= (p.Ala208=)
c.790C= (p.Leu264=)
c.621C= (p.Ala207=)
11g.67490801C>GCA475509414AIPc.1108C>G
c.612C>G (p.Ala204=)
n.1643C>G
c.469-196C>G (n.469-196C>G)
c.432C>G (p.Ala144=)
c.801C>G (p.Ala267=)
c.793C>G (p.Leu265Val)
c.624C>G (p.Ala208=)
c.790C>G (p.Leu264Val)
c.621C>G (p.Ala207=)
 dbSNP gnomAD v2 gnomAD v4
11g.67490801C>TCA475509415AIPc.1108C>T
c.612C>T (p.Ala204=)
n.1643C>T
c.469-196C>T (n.469-196C>T)
c.432C>T (p.Ala144=)
c.801C>T (p.Ala267=)
c.793C>T (p.Leu265=)
c.624C>T (p.Ala208=)
c.790C>T (p.Leu264=)
c.621C>T (p.Ala207=)
 ClinVar dbSNP gnomAD v4
11g.67490802T>ACA381554360AIPc.1109T>A
c.613T>A (p.Tyr205Asn)
n.1644T>A
c.469-195T>A (n.469-195T>A)
c.433T>A (p.Tyr145Asn)
c.802T>A (p.Tyr268Asn)
c.794T>A (p.Leu265Gln)
c.625T>A (p.Tyr209Asn)
c.791T>A (p.Leu264Gln)
c.622T>A (p.Tyr208Asn)
11g.67490802T>CCA381554362AIPc.1109T>C
c.613T>C (p.Tyr205His)
n.1644T>C
c.469-195T>C (n.469-195T>C)
c.433T>C (p.Tyr145His)
c.802T>C (p.Tyr268His)
c.794T>C (p.Leu265Pro)
c.625T>C (p.Tyr209His)
c.791T>C (p.Leu264Pro)
c.622T>C (p.Tyr208His)
 ClinVar dbSNP
11g.67490802T>GCA381554367AIPc.1109T>G
c.613T>G (p.Tyr205Asp)
n.1644T>G
c.469-195T>G (n.469-195T>G)
c.433T>G (p.Tyr145Asp)
c.802T>G (p.Tyr268Asp)
c.794T>G (p.Leu265Arg)
c.625T>G (p.Tyr209Asp)
c.791T>G (p.Leu264Arg)
c.622T>G (p.Tyr208Asp)
11g.67490802T=CA1980172641AIPc.1109T=
c.613T= (p.Tyr205=)
n.1644T=
c.469-195T= (n.469-195T=)
c.433T= (p.Tyr145=)
c.802T= (p.Tyr268=)
c.794T= (p.Leu265=)
c.625T= (p.Tyr209=)
c.791T= (p.Leu264=)
c.622T= (p.Tyr208=)
11g.67490803A=CA1980172642AIPc.1110A=
c.614A= (p.Tyr205=)
n.1645A=
c.469-194A= (n.469-194A=)
c.434A= (p.Tyr145=)
c.803A= (p.Tyr268=)
c.795A= (p.Leu265=)
c.626A= (p.Tyr209=)
c.792A= (p.Leu264=)
c.623A= (p.Tyr208=)
11g.67490803A>CCA381554377AIPc.1110A>C
c.614A>C (p.Tyr205Ser)
n.1645A>C
c.469-194A>C (n.469-194A>C)
c.434A>C (p.Tyr145Ser)
c.803A>C (p.Tyr268Ser)
c.795A>C (p.Leu265=)
c.626A>C (p.Tyr209Ser)
c.792A>C (p.Leu264=)
c.623A>C (p.Tyr208Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67490803A>GCA344187AIPc.1110A>G
c.614A>G (p.Tyr205Cys)
n.1645A>G
c.469-194A>G (n.469-194A>G)
c.434A>G (p.Tyr145Cys)
c.803A>G (p.Tyr268Cys)
c.795A>G (p.Leu265=)
c.626A>G (p.Tyr209Cys)
c.792A>G (p.Leu264=)
c.623A>G (p.Tyr208Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.67490803A>TCA381554393AIPc.1110A>T
c.614A>T (p.Tyr205Phe)
n.1645A>T
c.469-194A>T (n.469-194A>T)
c.434A>T (p.Tyr145Phe)
c.803A>T (p.Tyr268Phe)
c.795A>T (p.Leu265=)
c.626A>T (p.Tyr209Phe)
c.792A>T (p.Leu264=)
c.623A>T (p.Tyr208Phe)
11g.67490805_67490825dupCA344192AIPc.1112_1132dup
c.616_636dup (p.His212_Ala213insPheLysArgGlyLysAlaHis)
n.1647_1667dup
c.469-192_469-172dup (n.469-192_469-172dup)
c.436_456dup (p.His152_Ala153insPheLysArgGlyLysAlaHis)
c.805_825dup (p.His275_Ala276insPheLysArgGlyLysAlaHis)
c.797_817dup (p.Pro272_Arg273insLeuGlnAlaGlyGlnGlyPro)
c.628_648dup (p.His216_Ala217insPheLysArgGlyLysAlaHis)
c.794_814dup (p.Pro271_Arg272insLeuGlnAlaGlyGlnGlyPro)
c.625_645dup (p.His215_Ala216insPheLysArgGlyLysAlaHis)
 ClinVar dbSNP gnomAD v4
11g.67490804C>ACA117126AIPc.1111C>A
c.615C>A (p.Tyr205Ter)
n.1646C>A
c.469-193C>A (n.469-193C>A)
c.435C>A (p.Tyr145Ter)
c.804C>A (p.Tyr268Ter)
c.796C>A (p.Leu266Ile)
c.627C>A (p.Tyr209Ter)
c.793C>A (p.Leu265Ile)
c.624C>A (p.Tyr208Ter)
 ClinVar dbSNP gnomAD v4
11g.67490804C=CA1980172643AIPc.1111C=
c.615C= (p.Tyr205=)
n.1646C=
c.469-193C= (n.469-193C=)
c.435C= (p.Tyr145=)
c.804C= (p.Tyr268=)
c.796C= (p.Leu266=)
c.627C= (p.Tyr209=)
c.793C= (p.Leu265=)
c.624C= (p.Tyr208=)
11g.67490804C>GCA381554403AIPc.1111C>G
c.615C>G (p.Tyr205Ter)
n.1646C>G
c.469-193C>G (n.469-193C>G)
c.435C>G (p.Tyr145Ter)
c.804C>G (p.Tyr268Ter)
c.796C>G (p.Leu266Val)
c.627C>G (p.Tyr209Ter)
c.793C>G (p.Leu265Val)
c.624C>G (p.Tyr208Ter)
 gnomAD v4
11g.67490804C>TCA475509423AIPc.1111C>T
c.615C>T (p.Tyr205=)
n.1646C>T
c.469-193C>T (n.469-193C>T)
c.435C>T (p.Tyr145=)
c.804C>T (p.Tyr268=)
c.796C>T (p.Leu266Phe)
c.627C>T (p.Tyr209=)
c.793C>T (p.Leu265Phe)
c.624C>T (p.Tyr208=)
 ClinVar dbSNP
11g.67490804dupCA475509425AIPc.1111dup
c.615dup (p.Phe206LeufsTer19)
n.1646dup
c.469-193dup (n.469-193dup)
c.435dup (p.Phe146LeufsTer19)
c.804dup (p.Phe269LeufsTer19)
c.796dup (p.Leu266ProfsTer?)
c.627dup (p.Phe210LeufsTer19)
c.793dup (p.Leu265ProfsTer?)
c.624dup (p.Phe209LeufsTer19)
 COSMIC
11g.67490805T>ACA381554407AIPc.1112T>A
c.616T>A (p.Phe206Ile)
n.1647T>A
c.469-192T>A (n.469-192T>A)
c.436T>A (p.Phe146Ile)
c.805T>A (p.Phe269Ile)
c.797T>A (p.Leu266His)
c.628T>A (p.Phe210Ile)
c.794T>A (p.Leu265His)
c.625T>A (p.Phe209Ile)
11g.67490805T>CCA381554423AIPc.1112T>C
c.616T>C (p.Phe206Leu)
n.1647T>C
c.469-192T>C (n.469-192T>C)
c.436T>C (p.Phe146Leu)
c.805T>C (p.Phe269Leu)
c.797T>C (p.Leu266Pro)
c.628T>C (p.Phe210Leu)
c.794T>C (p.Leu265Pro)
c.625T>C (p.Phe209Leu)
 ClinVar
11g.67490805T>GCA381554425AIPc.1112T>G
c.616T>G (p.Phe206Val)
n.1647T>G
c.469-192T>G (n.469-192T>G)
c.436T>G (p.Phe146Val)
c.805T>G (p.Phe269Val)
c.797T>G (p.Leu266Arg)
c.628T>G (p.Phe210Val)
c.794T>G (p.Leu265Arg)
c.625T>G (p.Phe209Val)
11g.67490806T>ACA381554433AIPc.1113T>A
c.617T>A (p.Phe206Tyr)
n.1648T>A
c.469-191T>A (n.469-191T>A)
c.437T>A (p.Phe146Tyr)
c.806T>A (p.Phe269Tyr)
c.798T>A (p.Leu266=)
c.629T>A (p.Phe210Tyr)
c.795T>A (p.Leu265=)
c.626T>A (p.Phe209Tyr)
11g.67490806T>CCA381554442AIPc.1113T>C
c.617T>C (p.Phe206Ser)
n.1648T>C
c.469-191T>C (n.469-191T>C)
c.437T>C (p.Phe146Ser)
c.806T>C (p.Phe269Ser)
c.798T>C (p.Leu266=)
c.629T>C (p.Phe210Ser)
c.795T>C (p.Leu265=)
c.626T>C (p.Phe209Ser)
11g.67490806T>GCA381554430AIPc.1113T>G
c.617T>G (p.Phe206Cys)
n.1648T>G
c.469-191T>G (n.469-191T>G)
c.437T>G (p.Phe146Cys)
c.806T>G (p.Phe269Cys)
c.798T>G (p.Leu266=)
c.629T>G (p.Phe210Cys)
c.795T>G (p.Leu265=)
c.626T>G (p.Phe209Cys)
11g.67490807C>ACA381554448AIPc.1114C>A
c.618C>A (p.Phe206Leu)
n.1649C>A
c.469-190C>A (n.469-190C>A)
c.438C>A (p.Phe146Leu)
c.807C>A (p.Phe269Leu)
c.799C>A (p.Gln267Lys)
c.630C>A (p.Phe210Leu)
c.796C>A (p.Gln266Lys)
c.627C>A (p.Phe209Leu)
 ClinVar
11g.67490807C=CA1980172644AIPc.1114C=
c.618C= (p.Phe206=)
n.1649C=
c.469-190C= (n.469-190C=)
c.438C= (p.Phe146=)
c.807C= (p.Phe269=)
c.799C= (p.Gln267=)
c.630C= (p.Phe210=)
c.796C= (p.Gln266=)
c.627C= (p.Phe209=)
11g.67490807C>GCA381554445AIPc.1114C>G
c.618C>G (p.Phe206Leu)
n.1649C>G
c.469-190C>G (n.469-190C>G)
c.438C>G (p.Phe146Leu)
c.807C>G (p.Phe269Leu)
c.799C>G (p.Gln267Glu)
c.630C>G (p.Phe210Leu)
c.796C>G (p.Gln266Glu)
c.627C>G (p.Phe209Leu)
 ClinVar COSMIC
11g.67490807C>TCA344196AIPc.1114C>T
c.618C>T (p.Phe206=)
n.1649C>T
c.469-190C>T (n.469-190C>T)
c.438C>T (p.Phe146=)
c.807C>T (p.Phe269=)
c.799C>T (p.Gln267Ter)
c.630C>T (p.Phe210=)
c.796C>T (p.Gln266Ter)
c.627C>T (p.Phe209=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490808A>CCA381554454AIPc.1115A>C
c.619A>C (p.Lys207Gln)
n.1650A>C
c.469-189A>C (n.469-189A>C)
c.439A>C (p.Lys147Gln)
c.808A>C (p.Lys270Gln)
c.800A>C (p.Gln267Pro)
c.631A>C (p.Lys211Gln)
c.797A>C (p.Gln266Pro)
c.628A>C (p.Lys210Gln)
11g.67490808A>GCA381554457AIPc.1115A>G
c.619A>G (p.Lys207Glu)
n.1650A>G
c.469-189A>G (n.469-189A>G)
c.439A>G (p.Lys147Glu)
c.808A>G (p.Lys270Glu)
c.800A>G (p.Gln267Arg)
c.631A>G (p.Lys211Glu)
c.797A>G (p.Gln266Arg)
c.628A>G (p.Lys210Glu)
 gnomAD v4
11g.67490808A>TCA381554455AIPc.1115A>T
c.619A>T (p.Lys207Ter)
n.1650A>T
c.469-189A>T (n.469-189A>T)
c.439A>T (p.Lys147Ter)
c.808A>T (p.Lys270Ter)
c.800A>T (p.Gln267Leu)
c.631A>T (p.Lys211Ter)
c.797A>T (p.Gln266Leu)
c.628A>T (p.Lys210Ter)
11g.67490809A>CCA381554460AIPc.1116A>C
c.620A>C (p.Lys207Thr)
n.1651A>C
c.469-188A>C (n.469-188A>C)
c.440A>C (p.Lys147Thr)
c.809A>C (p.Lys270Thr)
c.801A>C (p.Gln267His)
c.632A>C (p.Lys211Thr)
c.798A>C (p.Gln266His)
c.629A>C (p.Lys210Thr)
 ClinVar
11g.67490809A>GCA381554463AIPc.1116A>G
c.620A>G (p.Lys207Arg)
n.1651A>G
c.469-188A>G (n.469-188A>G)
c.440A>G (p.Lys147Arg)
c.809A>G (p.Lys270Arg)
c.801A>G (p.Gln267=)
c.632A>G (p.Lys211Arg)
c.798A>G (p.Gln266=)
c.629A>G (p.Lys210Arg)
11g.67490809A>TCA381554467AIPc.1116A>T
c.620A>T (p.Lys207Met)
n.1651A>T
c.469-188A>T (n.469-188A>T)
c.440A>T (p.Lys147Met)
c.809A>T (p.Lys270Met)
c.801A>T (p.Gln267His)
c.632A>T (p.Lys211Met)
c.798A>T (p.Gln266His)
c.629A>T (p.Lys210Met)
11g.67490810G>ACA475509436AIPc.1117G>A
c.621G>A (p.Lys207=)
n.1652G>A
c.469-187G>A (n.469-187G>A)
c.441G>A (p.Lys147=)
c.810G>A (p.Lys270=)
c.802G>A (p.Ala268Thr)
c.633G>A (p.Lys211=)
c.799G>A (p.Ala267Thr)
c.630G>A (p.Lys210=)
11g.67490810G>CCA381554468AIPc.1117G>C
c.621G>C (p.Lys207Asn)
n.1652G>C
c.469-187G>C (n.469-187G>C)
c.441G>C (p.Lys147Asn)
c.810G>C (p.Lys270Asn)
c.802G>C (p.Ala268Pro)
c.633G>C (p.Lys211Asn)
c.799G>C (p.Ala267Pro)
c.630G>C (p.Lys210Asn)
11g.67490810G>TCA381554469AIPc.1117G>T
c.621G>T (p.Lys207Asn)
n.1652G>T
c.469-187G>T (n.469-187G>T)
c.441G>T (p.Lys147Asn)
c.810G>T (p.Lys270Asn)
c.802G>T (p.Ala268Ser)
c.633G>T (p.Lys211Asn)
c.799G>T (p.Ala267Ser)
c.630G>T (p.Lys210Asn)
11g.67490811_67490812delCA2695214807AIPc.1118_1119del
c.622_623del (p.Arg208GlyfsTer16)
n.1653_1654del
c.469-186_469-185del (n.469-186_469-185del)
c.442_443del (p.Arg148GlyfsTer16)
c.811_812del (p.Arg271GlyfsTer16)
c.803_804del (p.Ala268GlyfsTer?)
c.634_635del (p.Arg212GlyfsTer16)
c.800_801del (p.Ala267GlyfsTer?)
c.631_632del (p.Arg211GlyfsTer16)
11g.67490811C>ACA475509441AIPc.1118C>A
c.622C>A (p.Arg208=)
n.1653C>A
c.469-186C>A (n.469-186C>A)
c.442C>A (p.Arg148=)
c.811C>A (p.Arg271=)
c.803C>A (p.Ala268Glu)
c.634C>A (p.Arg212=)
c.800C>A (p.Ala267Glu)
c.631C>A (p.Arg211=)
11g.67490811C=CA1980172645AIPc.1118C=
c.622C= (p.Arg208=)
n.1653C=
c.469-186C= (n.469-186C=)
c.442C= (p.Arg148=)
c.811C= (p.Arg271=)
c.803C= (p.Ala268=)
c.634C= (p.Arg212=)
c.800C= (p.Ala267=)
c.631C= (p.Arg211=)
11g.67490811C>GCA381554470AIPc.1118C>G
c.622C>G (p.Arg208Gly)
n.1653C>G
c.469-186C>G (n.469-186C>G)
c.442C>G (p.Arg148Gly)
c.811C>G (p.Arg271Gly)
c.803C>G (p.Ala268Gly)
c.634C>G (p.Arg212Gly)
c.800C>G (p.Ala267Gly)
c.631C>G (p.Arg211Gly)
11g.67490811C>TCA344201AIPc.1118C>T
c.622C>T (p.Arg208Trp)
n.1653C>T
c.469-186C>T (n.469-186C>T)
c.442C>T (p.Arg148Trp)
c.811C>T (p.Arg271Trp)
c.803C>T (p.Ala268Val)
c.634C>T (p.Arg212Trp)
c.800C>T (p.Ala267Val)
c.631C>T (p.Arg211Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.67490812G>ACA381554472AIPc.1119G>A
c.623G>A (p.Arg208Gln)
n.1654G>A
c.469-185G>A (n.469-185G>A)
c.443G>A (p.Arg148Gln)
c.812G>A (p.Arg271Gln)
c.804G>A (p.Ala268=)
c.635G>A (p.Arg212Gln)
c.801G>A (p.Ala267=)
c.632G>A (p.Arg211Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.67490812G>CCA381554474AIPc.1119G>C
c.623G>C (p.Arg208Pro)
n.1654G>C
c.469-185G>C (n.469-185G>C)
c.443G>C (p.Arg148Pro)
c.812G>C (p.Arg271Pro)
c.804G>C (p.Ala268=)
c.635G>C (p.Arg212Pro)
c.801G>C (p.Ala267=)
c.632G>C (p.Arg211Pro)
11g.67490812G=CA1980172646AIPc.1119G=
c.623G= (p.Arg208=)
n.1654G=
c.469-185G= (n.469-185G=)
c.443G= (p.Arg148=)
c.812G= (p.Arg271=)
c.804G= (p.Ala268=)
c.635G= (p.Arg212=)
c.801G= (p.Ala267=)
c.632G= (p.Arg211=)
11g.67490812G>TCA381554480AIPc.1119G>T
c.623G>T (p.Arg208Leu)
n.1654G>T
c.469-185G>T (n.469-185G>T)
c.443G>T (p.Arg148Leu)
c.812G>T (p.Arg271Leu)
c.804G>T (p.Ala268=)
c.635G>T (p.Arg212Leu)
c.801G>T (p.Ala267=)
c.632G>T (p.Arg211Leu)
 gnomAD v4
11g.67490813G>ACA475509444AIPc.1120G>A
c.624G>A (p.Arg208=)
n.1655G>A
c.469-184G>A (n.469-184G>A)
c.444G>A (p.Arg148=)
c.813G>A (p.Arg271=)
c.805G>A (p.Gly269Arg)
c.636G>A (p.Arg212=)
c.802G>A (p.Gly268Arg)
c.633G>A (p.Arg211=)
11g.67490813G>CCA475509448AIPc.1120G>C
c.624G>C (p.Arg208=)
n.1655G>C
c.469-184G>C (n.469-184G>C)
c.444G>C (p.Arg148=)
c.813G>C (p.Arg271=)
c.805G>C (p.Gly269Arg)
c.636G>C (p.Arg212=)
c.802G>C (p.Gly268Arg)
c.633G>C (p.Arg211=)
11g.67490813G>TCA475509449AIPc.1120G>T
c.624G>T (p.Arg208=)
n.1655G>T
c.469-184G>T (n.469-184G>T)
c.444G>T (p.Arg148=)
c.813G>T (p.Arg271=)
c.805G>T (p.Gly269Trp)
c.636G>T (p.Arg212=)
c.802G>T (p.Gly268Trp)
c.633G>T (p.Arg211=)
11g.67490814G>ACA381554486AIPc.1121G>A
c.625G>A (p.Gly209Ser)
n.1656G>A
c.469-183G>A (n.469-183G>A)
c.445G>A (p.Gly149Ser)
c.814G>A (p.Gly272Ser)
c.806G>A (p.Gly269Glu)
c.637G>A (p.Gly213Ser)
c.803G>A (p.Gly268Glu)
c.634G>A (p.Gly212Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67490814G>CCA381554485AIPc.1121G>C
c.625G>C (p.Gly209Arg)
n.1656G>C
c.469-183G>C (n.469-183G>C)
c.445G>C (p.Gly149Arg)
c.814G>C (p.Gly272Arg)
c.806G>C (p.Gly269Ala)
c.637G>C (p.Gly213Arg)
c.803G>C (p.Gly268Ala)
c.634G>C (p.Gly212Arg)
 ClinVar
11g.67490814G=CA1980172647AIPc.1121G=
c.625G= (p.Gly209=)
n.1656G=
c.469-183G= (n.469-183G=)
c.445G= (p.Gly149=)
c.814G= (p.Gly272=)
c.806G= (p.Gly269=)
c.637G= (p.Gly213=)
c.803G= (p.Gly268=)
c.634G= (p.Gly212=)
11g.67490814G>TCA381554483AIPc.1121G>T
c.625G>T (p.Gly209Cys)
n.1656G>T
c.469-183G>T (n.469-183G>T)
c.445G>T (p.Gly149Cys)
c.814G>T (p.Gly272Cys)
c.806G>T (p.Gly269Val)
c.637G>T (p.Gly213Cys)
c.803G>T (p.Gly268Val)
c.634G>T (p.Gly212Cys)
 gnomAD v4
11g.67490815G>ACA6140983AIPc.1122G>A
c.626G>A (p.Gly209Asp)
n.1657G>A
c.469-182G>A (n.469-182G>A)
c.446G>A (p.Gly149Asp)
c.815G>A (p.Gly272Asp)
c.807G>A (p.Gly269=)
c.638G>A (p.Gly213Asp)
c.804G>A (p.Gly268=)
c.635G>A (p.Gly212Asp)
 dbSNP ExAC gnomAD v2
11g.67490815G>CCA381554489AIPc.1122G>C
c.626G>C (p.Gly209Ala)
n.1657G>C
c.469-182G>C (n.469-182G>C)
c.446G>C (p.Gly149Ala)
c.815G>C (p.Gly272Ala)
c.807G>C (p.Gly269=)
c.638G>C (p.Gly213Ala)
c.804G>C (p.Gly268=)
c.635G>C (p.Gly212Ala)
11g.67490815G=CA1980172648AIPc.1122G=
c.626G= (p.Gly209=)
n.1657G=
c.469-182G= (n.469-182G=)
c.446G= (p.Gly149=)
c.815G= (p.Gly272=)
c.807G= (p.Gly269=)
c.638G= (p.Gly213=)
c.804G= (p.Gly268=)
c.635G= (p.Gly212=)
11g.67490815G>TCA381554491AIPc.1122G>T
c.626G>T (p.Gly209Val)
n.1657G>T
c.469-182G>T (n.469-182G>T)
c.446G>T (p.Gly149Val)
c.815G>T (p.Gly272Val)
c.807G>T (p.Gly269=)
c.638G>T (p.Gly213Val)
c.804G>T (p.Gly268=)
c.635G>T (p.Gly212Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.67490816delCA475509455AIPc.1123del
c.627del (p.Lys210ArgfsTer?)
n.1658del
c.469-181del (n.469-181del)
c.447del (p.Lys150ArgfsTer?)
c.816del (p.Lys273ArgfsTer?)
c.808del (p.Gln270LysfsTer?)
c.639del (p.Lys214ArgfsTer?)
c.805del (p.Gln269LysfsTer?)
c.636del (p.Lys213ArgfsTer?)
 ClinVar
11g.67490816C>ACA475509459AIPc.1123C>A
c.627C>A (p.Gly209=)
n.1658C>A
c.469-181C>A (n.469-181C>A)
c.447C>A (p.Gly149=)
c.816C>A (p.Gly272=)
c.808C>A (p.Gln270Lys)
c.639C>A (p.Gly213=)
c.805C>A (p.Gln269Lys)
c.636C>A (p.Gly212=)
11g.67490816C>GCA475509461AIPc.1123C>G
c.627C>G (p.Gly209=)
n.1658C>G
c.469-181C>G (n.469-181C>G)
c.447C>G (p.Gly149=)
c.816C>G (p.Gly272=)
c.808C>G (p.Gln270Glu)
c.639C>G (p.Gly213=)
c.805C>G (p.Gln269Glu)
c.636C>G (p.Gly212=)
11g.67490816C>TCA475509457AIPc.1123C>T
c.627C>T (p.Gly209=)
n.1658C>T
c.469-181C>T (n.469-181C>T)
c.447C>T (p.Gly149=)
c.816C>T (p.Gly272=)
c.808C>T (p.Gln270Ter)
c.639C>T (p.Gly213=)
c.805C>T (p.Gln269Ter)
c.636C>T (p.Gly212=)
 ClinVar gnomAD v4
11g.67490817A>CCA381554492AIPc.1124A>C
c.628A>C (p.Lys210Gln)
n.1659A>C
c.469-180A>C (n.469-180A>C)
c.448A>C (p.Lys150Gln)
c.817A>C (p.Lys273Gln)
c.809A>C (p.Gln270Pro)
c.640A>C (p.Lys214Gln)
c.806A>C (p.Gln269Pro)
c.637A>C (p.Lys213Gln)
11g.67490817A>GCA381554494AIPc.1124A>G
c.628A>G (p.Lys210Glu)
n.1659A>G
c.469-180A>G (n.469-180A>G)
c.448A>G (p.Lys150Glu)
c.817A>G (p.Lys273Glu)
c.809A>G (p.Gln270Arg)
c.640A>G (p.Lys214Glu)
c.806A>G (p.Gln269Arg)
c.637A>G (p.Lys213Glu)
11g.67490817A>TCA381554498AIPc.1124A>T
c.628A>T (p.Lys210Ter)
n.1659A>T
c.469-180A>T (n.469-180A>T)
c.448A>T (p.Lys150Ter)
c.817A>T (p.Lys273Ter)
c.809A>T (p.Gln270Leu)
c.640A>T (p.Lys214Ter)
c.806A>T (p.Gln269Leu)
c.637A>T (p.Lys213Ter)
11g.67490818A>CCA381554500AIPc.1125A>C
c.629A>C (p.Lys210Thr)
n.1660A>C
c.469-179A>C (n.469-179A>C)
c.449A>C (p.Lys150Thr)
c.818A>C (p.Lys273Thr)
c.810A>C (p.Gln270His)
c.641A>C (p.Lys214Thr)
c.807A>C (p.Gln269His)
c.638A>C (p.Lys213Thr)
 ClinVar
11g.67490818A>GCA381554503AIPc.1125A>G
c.629A>G (p.Lys210Arg)
n.1660A>G
c.469-179A>G (n.469-179A>G)
c.449A>G (p.Lys150Arg)
c.818A>G (p.Lys273Arg)
c.810A>G (p.Gln270=)
c.641A>G (p.Lys214Arg)
c.807A>G (p.Gln269=)
c.638A>G (p.Lys213Arg)
11g.67490818A>TCA381554505AIPc.1125A>T
c.629A>T (p.Lys210Met)
n.1660A>T
c.469-179A>T (n.469-179A>T)
c.449A>T (p.Lys150Met)
c.818A>T (p.Lys273Met)
c.810A>T (p.Gln270His)
c.641A>T (p.Lys214Met)
c.807A>T (p.Gln269His)
c.638A>T (p.Lys213Met)
 gnomAD v4
11g.67490819G>ACA475509466AIPc.1126G>A
c.630G>A (p.Lys210=)
n.1661G>A
c.469-178G>A (n.469-178G>A)
c.450G>A (p.Lys150=)
c.819G>A (p.Lys273=)
c.811G>A (p.Gly271Ser)
c.642G>A (p.Lys214=)
c.808G>A (p.Gly270Ser)
c.639G>A (p.Lys213=)
 ClinVar
11g.67490819G>CCA381554508AIPc.1126G>C
c.630G>C (p.Lys210Asn)
n.1661G>C
c.469-178G>C (n.469-178G>C)
c.450G>C (p.Lys150Asn)
c.819G>C (p.Lys273Asn)
c.811G>C (p.Gly271Arg)
c.642G>C (p.Lys214Asn)
c.808G>C (p.Gly270Arg)
c.639G>C (p.Lys213Asn)
11g.67490819G>TCA381554512AIPc.1126G>T
c.630G>T (p.Lys210Asn)
n.1661G>T
c.469-178G>T (n.469-178G>T)
c.450G>T (p.Lys150Asn)
c.819G>T (p.Lys273Asn)
c.811G>T (p.Gly271Cys)
c.642G>T (p.Lys214Asn)
c.808G>T (p.Gly270Cys)
c.639G>T (p.Lys213Asn)
11g.67490820G>ACA381554520AIPc.1127G>A
c.631G>A (p.Ala211Thr)
n.1662G>A
c.469-177G>A (n.469-177G>A)
c.451G>A (p.Ala151Thr)
c.820G>A (p.Ala274Thr)
c.812G>A (p.Gly271Asp)
c.643G>A (p.Ala215Thr)
c.809G>A (p.Gly270Asp)
c.640G>A (p.Ala214Thr)
 ClinVar dbSNP gnomAD v4
11g.67490820G>CCA381554523AIPc.1127G>C
c.631G>C (p.Ala211Pro)
n.1662G>C
c.469-177G>C (n.469-177G>C)
c.451G>C (p.Ala151Pro)
c.820G>C (p.Ala274Pro)
c.812G>C (p.Gly271Ala)
c.643G>C (p.Ala215Pro)
c.809G>C (p.Gly270Ala)
c.640G>C (p.Ala214Pro)
11g.67490820G>TCA381554516AIPc.1127G>T
c.631G>T (p.Ala211Ser)
n.1662G>T
c.469-177G>T (n.469-177G>T)
c.451G>T (p.Ala151Ser)
c.820G>T (p.Ala274Ser)
c.812G>T (p.Gly271Val)
c.643G>T (p.Ala215Ser)
c.809G>T (p.Gly270Val)
c.640G>T (p.Ala214Ser)
11g.67490820_67490821delinsTTCA2739270610AIPc.1127_1128delinsTT
c.631_632delinsTT (p.Ala211Phe)
n.1662_1663delinsTT
c.469-177_469-176delinsTT (n.469-177_469-176delinsTT)
c.451_452delinsTT (p.Ala151Phe)
c.820_821delinsTT (p.Ala274Phe)
c.812_813delinsTT (p.Gly271Val)
c.643_644delinsTT (p.Ala215Phe)
c.809_810delinsTT (p.Gly270Val)
c.640_641delinsTT (p.Ala214Phe)
 ClinVar
11g.67490821C>ACA381554527AIPc.1128C>A
c.632C>A (p.Ala211Asp)
n.1663C>A
c.469-176C>A (n.469-176C>A)
c.452C>A (p.Ala151Asp)
c.821C>A (p.Ala274Asp)
c.813C>A (p.Gly271=)
c.644C>A (p.Ala215Asp)
c.810C>A (p.Gly270=)
c.641C>A (p.Ala214Asp)
11g.67490821C>GCA381554531AIPc.1128C>G
c.632C>G (p.Ala211Gly)
n.1663C>G
c.469-176C>G (n.469-176C>G)
c.452C>G (p.Ala151Gly)
c.821C>G (p.Ala274Gly)
c.813C>G (p.Gly271=)
c.644C>G (p.Ala215Gly)
c.810C>G (p.Gly270=)
c.641C>G (p.Ala214Gly)
11g.67490821C>TCA381554535AIPc.1128C>T
c.632C>T (p.Ala211Val)
n.1663C>T
c.469-176C>T (n.469-176C>T)
c.452C>T (p.Ala151Val)
c.821C>T (p.Ala274Val)
c.813C>T (p.Gly271=)
c.644C>T (p.Ala215Val)
c.810C>T (p.Gly270=)
c.641C>T (p.Ala214Val)
 ClinVar
11g.67490822C>ACA6140984AIPc.1129C>A
c.633C>A (p.Ala211=)
n.1664C>A
c.469-175C>A (n.469-175C>A)
c.453C>A (p.Ala151=)
c.822C>A (p.Ala274=)
c.814C>A (p.Pro272Thr)
c.645C>A (p.Ala215=)
c.811C>A (p.Pro271Thr)
c.642C>A (p.Ala214=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490822C=CA1980172649AIPc.1129C=
c.633C= (p.Ala211=)
n.1664C=
c.469-175C= (n.469-175C=)
c.453C= (p.Ala151=)
c.822C= (p.Ala274=)
c.814C= (p.Pro272=)
c.645C= (p.Ala215=)
c.811C= (p.Pro271=)
c.642C= (p.Ala214=)
11g.67490822C>GCA475509470AIPc.1129C>G
c.633C>G (p.Ala211=)
n.1664C>G
c.469-175C>G (n.469-175C>G)
c.453C>G (p.Ala151=)
c.822C>G (p.Ala274=)
c.814C>G (p.Pro272Ala)
c.645C>G (p.Ala215=)
c.811C>G (p.Pro271Ala)
c.642C>G (p.Ala214=)
11g.67490822C>TCA475509468AIPc.1129C>T
c.633C>T (p.Ala211=)
n.1664C>T
c.469-175C>T (n.469-175C>T)
c.453C>T (p.Ala151=)
c.822C>T (p.Ala274=)
c.814C>T (p.Pro272Ser)
c.645C>T (p.Ala215=)
c.811C>T (p.Pro271Ser)
c.642C>T (p.Ala214=)
11g.67490823C>ACA381554549AIPc.1130C>A
c.634C>A (p.His212Asn)
n.1665C>A
c.469-174C>A (n.469-174C>A)
c.454C>A (p.His152Asn)
c.823C>A (p.His275Asn)
c.815C>A (p.Pro272Gln)
c.646C>A (p.His216Asn)
c.812C>A (p.Pro271Gln)
c.643C>A (p.His215Asn)
11g.67490823C=CA1980172650AIPc.1130C=
c.634C= (p.His212=)
n.1665C=
c.469-174C= (n.469-174C=)
c.454C= (p.His152=)
c.823C= (p.His275=)
c.815C= (p.Pro272=)
c.646C= (p.His216=)
c.812C= (p.Pro271=)
c.643C= (p.His215=)
11g.67490823C>GCA381554552AIPc.1130C>G
c.634C>G (p.His212Asp)
n.1665C>G
c.469-174C>G (n.469-174C>G)
c.454C>G (p.His152Asp)
c.823C>G (p.His275Asp)
c.815C>G (p.Pro272Arg)
c.646C>G (p.His216Asp)
c.812C>G (p.Pro271Arg)
c.643C>G (p.His215Asp)
11g.67490823C>TCA381554557AIPc.1130C>T
c.634C>T (p.His212Tyr)
n.1665C>T
c.469-174C>T (n.469-174C>T)
c.454C>T (p.His152Tyr)
c.823C>T (p.His275Tyr)
c.815C>T (p.Pro272Leu)
c.646C>T (p.His216Tyr)
c.812C>T (p.Pro271Leu)
c.643C>T (p.His215Tyr)
 ClinVar gnomAD v4
11g.67490824A>CCA381554561AIPc.1131A>C
c.635A>C (p.His212Pro)
n.1666A>C
c.469-173A>C (n.469-173A>C)
c.455A>C (p.His152Pro)
c.824A>C (p.His275Pro)
c.816A>C (p.Pro272=)
c.647A>C (p.His216Pro)
c.813A>C (p.Pro271=)
c.644A>C (p.His215Pro)
11g.67490824A>GCA381554575AIPc.1131A>G
c.635A>G (p.His212Arg)
n.1666A>G
c.469-173A>G (n.469-173A>G)
c.455A>G (p.His152Arg)
c.824A>G (p.His275Arg)
c.816A>G (p.Pro272=)
c.647A>G (p.His216Arg)
c.813A>G (p.Pro271=)
c.644A>G (p.His215Arg)
11g.67490824A>TCA381554579AIPc.1131A>T
c.635A>T (p.His212Leu)
n.1666A>T
c.469-173A>T (n.469-173A>T)
c.455A>T (p.His152Leu)
c.824A>T (p.His275Leu)
c.816A>T (p.Pro272=)
c.647A>T (p.His216Leu)
c.813A>T (p.Pro271=)
c.644A>T (p.His215Leu)
11g.67490824dupCA340306AIPc.1131dup
c.635dup (p.His212GlnfsTer13)
n.1666dup
c.469-173dup (n.469-173dup)
c.455dup (p.His152GlnfsTer13)
c.824dup (p.His275GlnfsTer13)
c.816dup (p.Arg273ThrfsTer28)
c.647dup (p.His216GlnfsTer13)
c.813dup (p.Arg272ThrfsTer28)
c.644dup (p.His215GlnfsTer13)
 ClinVar dbSNP
11g.67490825C>ACA381554585AIPc.1132C>A
c.636C>A (p.His212Gln)
n.1667C>A
c.469-172C>A (n.469-172C>A)
c.456C>A (p.His152Gln)
c.825C>A (p.His275Gln)
c.817C>A (p.Arg273Ser)
c.648C>A (p.His216Gln)
c.814C>A (p.Arg272Ser)
c.645C>A (p.His215Gln)
11g.67490825C=CA1980172651AIPc.1132C=
c.636C= (p.His212=)
n.1667C=
c.469-172C= (n.469-172C=)
c.456C= (p.His152=)
c.825C= (p.His275=)
c.817C= (p.Arg273=)
c.648C= (p.His216=)
c.814C= (p.Arg272=)
c.645C= (p.His215=)
11g.67490825C>GCA381554594AIPc.1132C>G
c.636C>G (p.His212Gln)
n.1667C>G
c.469-172C>G (n.469-172C>G)
c.456C>G (p.His152Gln)
c.825C>G (p.His275Gln)
c.817C>G (p.Arg273Gly)
c.648C>G (p.His216Gln)
c.814C>G (p.Arg272Gly)
c.645C>G (p.His215Gln)
 gnomAD v4
11g.67490825C>TCA6140985AIPc.1132C>T
c.636C>T (p.His212=)
n.1667C>T
c.469-172C>T (n.469-172C>T)
c.456C>T (p.His152=)
c.825C>T (p.His275=)
c.817C>T (p.Arg273Cys)
c.648C>T (p.His216=)
c.814C>T (p.Arg272Cys)
c.645C>T (p.His215=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490826G>ACA6140986AIPc.1133G>A
c.637G>A (p.Ala213Thr)
n.1668G>A
c.469-171G>A (n.469-171G>A)
c.457G>A (p.Ala153Thr)
c.826G>A (p.Ala276Thr)
c.818G>A (p.Arg273His)
c.649G>A (p.Ala217Thr)
c.815G>A (p.Arg272His)
c.646G>A (p.Ala216Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.67490826G>CCA381554609AIPc.1133G>C
c.637G>C (p.Ala213Pro)
n.1668G>C
c.469-171G>C (n.469-171G>C)
c.457G>C (p.Ala153Pro)
c.826G>C (p.Ala276Pro)
c.818G>C (p.Arg273Pro)
c.649G>C (p.Ala217Pro)
c.815G>C (p.Arg272Pro)
c.646G>C (p.Ala216Pro)
11g.67490826G=CA1980172652AIPc.1133G=
c.637G= (p.Ala213=)
n.1668G=
c.469-171G= (n.469-171G=)
c.457G= (p.Ala153=)
c.826G= (p.Ala276=)
c.818G= (p.Arg273=)
c.649G= (p.Ala217=)
c.815G= (p.Arg272=)
c.646G= (p.Ala216=)
11g.67490826G>TCA381554606AIPc.1133G>T
c.637G>T (p.Ala213Ser)
n.1668G>T
c.469-171G>T (n.469-171G>T)
c.457G>T (p.Ala153Ser)
c.826G>T (p.Ala276Ser)
c.818G>T (p.Arg273Leu)
c.649G>T (p.Ala217Ser)
c.815G>T (p.Arg272Leu)
c.646G>T (p.Ala216Ser)
11g.67490836_67490837insCCCAGCGGCCGTGTGCA600236229AIPc.1143_1144insCCCAGCGGCCGTGTG
c.647_648insCCCAGCGGCCGTGTG (p.Val215_Trp216insCysProAlaAlaVal)
n.1678_1679insCCCAGCGGCCGTGTG
c.469-161_469-160insCCCAGCGGCCGTGTG (n.469-161_469-160insCCCAGCGGCCGTGTG)
c.467_468insCCCAGCGGCCGTGTG (p.Val155_Trp156insCysProAlaAlaVal)
c.836_837insCCCAGCGGCCGTGTG (p.Val278_Trp279insCysProAlaAlaVal)
c.828_829insCCCAGCGGCCGTGTG (p.Val276_Glu277insProSerGlyArgVal)
c.659_660insCCCAGCGGCCGTGTG (p.Val219_Trp220insCysProAlaAlaVal)
c.825_826insCCCAGCGGCCGTGTG (p.Val275_Glu276insProSerGlyArgVal)
c.656_657insCCCAGCGGCCGTGTG (p.Val218_Trp219insCysProAlaAlaVal)
 dbSNP gnomAD v2 gnomAD v4
11g.67490827C>ACA381554615AIPc.1134C>A
c.638C>A (p.Ala213Glu)
n.1669C>A
c.469-170C>A (n.469-170C>A)
c.458C>A (p.Ala153Glu)
c.827C>A (p.Ala276Glu)
c.819C>A (p.Arg273=)
c.650C>A (p.Ala217Glu)
c.816C>A (p.Arg272=)
c.647C>A (p.Ala216Glu)
 dbSNP
11g.67490827C=CA1980172653AIPc.1134C=
c.638C= (p.Ala213=)
n.1669C=
c.469-170C= (n.469-170C=)
c.458C= (p.Ala153=)
c.827C= (p.Ala276=)
c.819C= (p.Arg273=)
c.650C= (p.Ala217=)
c.816C= (p.Arg272=)
c.647C= (p.Ala216=)
11g.67490827C>GCA381554619AIPc.1134C>G
c.638C>G (p.Ala213Gly)
n.1669C>G
c.469-170C>G (n.469-170C>G)
c.458C>G (p.Ala153Gly)
c.827C>G (p.Ala276Gly)
c.819C>G (p.Arg273=)
c.650C>G (p.Ala217Gly)
c.816C>G (p.Arg272=)
c.647C>G (p.Ala216Gly)
 ClinVar dbSNP gnomAD v4
11g.67490827C>TCA6140987AIPc.1134C>T
c.638C>T (p.Ala213Val)
n.1669C>T
c.469-170C>T (n.469-170C>T)
c.458C>T (p.Ala153Val)
c.827C>T (p.Ala276Val)
c.819C>T (p.Arg273=)
c.650C>T (p.Ala217Val)
c.816C>T (p.Arg272=)
c.647C>T (p.Ala216Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490828G>ACA475509478AIPc.1135G>A
c.639G>A (p.Ala213=)
n.1670G>A
c.469-169G>A (n.469-169G>A)
c.459G>A (p.Ala153=)
c.828G>A (p.Ala276=)
c.820G>A (p.Gly274Ser)
c.651G>A (p.Ala217=)
c.817G>A (p.Gly273Ser)
c.648G>A (p.Ala216=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67490828G>CCA475509479AIPc.1135G>C
c.639G>C (p.Ala213=)
n.1670G>C
c.469-169G>C (n.469-169G>C)
c.459G>C (p.Ala153=)
c.828G>C (p.Ala276=)
c.820G>C (p.Gly274Arg)
c.651G>C (p.Ala217=)
c.817G>C (p.Gly273Arg)
c.648G>C (p.Ala216=)
11g.67490828G=CA1980172654AIPc.1135G=
c.639G= (p.Ala213=)
n.1670G=
c.469-169G= (n.469-169G=)
c.459G= (p.Ala153=)
c.828G= (p.Ala276=)
c.820G= (p.Gly274=)
c.651G= (p.Ala217=)
c.817G= (p.Gly273=)
c.648G= (p.Ala216=)
11g.67490828G>TCA475509480AIPc.1135G>T
c.639G>T (p.Ala213=)
n.1670G>T
c.469-169G>T (n.469-169G>T)
c.459G>T (p.Ala153=)
c.828G>T (p.Ala276=)
c.820G>T (p.Gly274Cys)
c.651G>T (p.Ala217=)
c.817G>T (p.Gly273Cys)
c.648G>T (p.Ala216=)
11g.67490829G>ACA381554627AIPc.1136G>A
c.640G>A (p.Ala214Thr)
n.1671G>A
c.469-168G>A (n.469-168G>A)
c.460G>A (p.Ala154Thr)
c.829G>A (p.Ala277Thr)
c.821G>A (p.Gly274Asp)
c.652G>A (p.Ala218Thr)
c.818G>A (p.Gly273Asp)
c.649G>A (p.Ala217Thr)
11g.67490829G>CCA344205AIPc.1136G>C
c.640G>C (p.Ala214Pro)
n.1671G>C
c.469-168G>C (n.469-168G>C)
c.460G>C (p.Ala154Pro)
c.829G>C (p.Ala277Pro)
c.821G>C (p.Gly274Ala)
c.652G>C (p.Ala218Pro)
c.818G>C (p.Gly273Ala)
c.649G>C (p.Ala217Pro)
 ClinVar dbSNP
11g.67490829G=CA1980172655AIPc.1136G=
c.640G= (p.Ala214=)
n.1671G=
c.469-168G= (n.469-168G=)
c.460G= (p.Ala154=)
c.829G= (p.Ala277=)
c.821G= (p.Gly274=)
c.652G= (p.Ala218=)
c.818G= (p.Gly273=)
c.649G= (p.Ala217=)
11g.67490829G>TCA381554635AIPc.1136G>T
c.640G>T (p.Ala214Ser)
n.1671G>T
c.469-168G>T (n.469-168G>T)
c.460G>T (p.Ala154Ser)
c.829G>T (p.Ala277Ser)
c.821G>T (p.Gly274Val)
c.652G>T (p.Ala218Ser)
c.818G>T (p.Gly273Val)
c.649G>T (p.Ala217Ser)
11g.67490830C>ACA381554639AIPc.1137C>A
c.641C>A (p.Ala214Asp)
n.1672C>A
c.469-167C>A (n.469-167C>A)
c.461C>A (p.Ala154Asp)
c.830C>A (p.Ala277Asp)
c.822C>A (p.Gly274=)
c.653C>A (p.Ala218Asp)
c.819C>A (p.Gly273=)
c.650C>A (p.Ala217Asp)
 COSMIC
11g.67490830C=CA1980172656AIPc.1137C=
c.641C= (p.Ala214=)
n.1672C=
c.469-167C= (n.469-167C=)
c.461C= (p.Ala154=)
c.830C= (p.Ala277=)
c.822C= (p.Gly274=)
c.653C= (p.Ala218=)
c.819C= (p.Gly273=)
c.650C= (p.Ala217=)
11g.67490830C>GCA381554642AIPc.1137C>G
c.641C>G (p.Ala214Gly)
n.1672C>G
c.469-167C>G (n.469-167C>G)
c.461C>G (p.Ala154Gly)
c.830C>G (p.Ala277Gly)
c.822C>G (p.Gly274=)
c.653C>G (p.Ala218Gly)
c.819C>G (p.Gly273=)
c.650C>G (p.Ala217Gly)
11g.67490830C>TCA381554648AIPc.1137C>T
c.641C>T (p.Ala214Val)
n.1672C>T
c.469-167C>T (n.469-167C>T)
c.461C>T (p.Ala154Val)
c.830C>T (p.Ala277Val)
c.822C>T (p.Gly274=)
c.653C>T (p.Ala218Val)
c.819C>T (p.Gly273=)
c.650C>T (p.Ala217Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67490831C>ACA475509485AIPc.1138C>A
c.642C>A (p.Ala214=)
n.1673C>A
c.469-166C>A (n.469-166C>A)
c.462C>A (p.Ala154=)
c.831C>A (p.Ala277=)
c.823C>A (p.Arg275Ser)
c.654C>A (p.Ala218=)
c.820C>A (p.Arg274Ser)
c.651C>A (p.Ala217=)
11g.67490831C=CA1980172657AIPc.1138C=
c.642C= (p.Ala214=)
n.1673C=
c.469-166C= (n.469-166C=)
c.462C= (p.Ala154=)
c.831C= (p.Ala277=)
c.823C= (p.Arg275=)
c.654C= (p.Ala218=)
c.820C= (p.Arg274=)
c.651C= (p.Ala217=)
11g.67490831C>GCA475509487AIPc.1138C>G
c.642C>G (p.Ala214=)
n.1673C>G
c.469-166C>G (n.469-166C>G)
c.462C>G (p.Ala154=)
c.831C>G (p.Ala277=)
c.823C>G (p.Arg275Gly)
c.654C>G (p.Ala218=)
c.820C>G (p.Arg274Gly)
c.651C>G (p.Ala217=)
11g.67490831C>TCA6140988AIPc.1138C>T
c.642C>T (p.Ala214=)
n.1673C>T
c.469-166C>T (n.469-166C>T)
c.462C>T (p.Ala154=)
c.831C>T (p.Ala277=)
c.823C>T (p.Arg275Cys)
c.654C>T (p.Ala218=)
c.820C>T (p.Arg274Cys)
c.651C>T (p.Ala217=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490832G>ACA6140989AIPc.1139G>A
c.643G>A (p.Val215Met)
n.1674G>A
c.469-165G>A (n.469-165G>A)
c.463G>A (p.Val155Met)
c.832G>A (p.Val278Met)
c.824G>A (p.Arg275His)
c.655G>A (p.Val219Met)
c.821G>A (p.Arg274His)
c.652G>A (p.Val218Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.67490832G>CCA381554662AIPc.1139G>C
c.643G>C (p.Val215Leu)
n.1674G>C
c.469-165G>C (n.469-165G>C)
c.463G>C (p.Val155Leu)
c.832G>C (p.Val278Leu)
c.824G>C (p.Arg275Pro)
c.655G>C (p.Val219Leu)
c.821G>C (p.Arg274Pro)
c.652G>C (p.Val218Leu)
 dbSNP gnomAD v3 gnomAD v4
11g.67490832G=CA1980172658AIPc.1139G=
c.643G= (p.Val215=)
n.1674G=
c.469-165G= (n.469-165G=)
c.463G= (p.Val155=)
c.832G= (p.Val278=)
c.824G= (p.Arg275=)
c.655G= (p.Val219=)
c.821G= (p.Arg274=)
c.652G= (p.Val218=)
11g.67490832G>TCA381554664AIPc.1139G>T
c.643G>T (p.Val215Leu)
n.1674G>T
c.469-165G>T (n.469-165G>T)
c.463G>T (p.Val155Leu)
c.832G>T (p.Val278Leu)
c.824G>T (p.Arg275Leu)
c.655G>T (p.Val219Leu)
c.821G>T (p.Arg274Leu)
c.652G>T (p.Val218Leu)
 ClinVar dbSNP
11g.67490833T>ACA381554677AIPc.1140T>A
c.644T>A (p.Val215Glu)
n.1675T>A
c.469-164T>A (n.469-164T>A)
c.464T>A (p.Val155Glu)
c.833T>A (p.Val278Glu)
c.825T>A (p.Arg275=)
c.656T>A (p.Val219Glu)
c.822T>A (p.Arg274=)
c.653T>A (p.Val218Glu)
11g.67490833T>CCA381554674AIPc.1140T>C
c.644T>C (p.Val215Ala)
n.1675T>C
c.469-164T>C (n.469-164T>C)
c.464T>C (p.Val155Ala)
c.833T>C (p.Val278Ala)
c.825T>C (p.Arg275=)
c.656T>C (p.Val219Ala)
c.822T>C (p.Arg274=)
c.653T>C (p.Val218Ala)
11g.67490833T>GCA224165894AIPc.1140T>G
c.644T>G (p.Val215Gly)
n.1675T>G
c.469-164T>G (n.469-164T>G)
c.464T>G (p.Val155Gly)
c.833T>G (p.Val278Gly)
c.825T>G (p.Arg275=)
c.656T>G (p.Val219Gly)
c.822T>G (p.Arg274=)
c.653T>G (p.Val218Gly)
 dbSNP
11g.67490833T=CA1980172659AIPc.1140T=
c.644T= (p.Val215=)
n.1675T=
c.469-164T= (n.469-164T=)
c.464T= (p.Val155=)
c.833T= (p.Val278=)
c.825T= (p.Arg275=)
c.656T= (p.Val219=)
c.822T= (p.Arg274=)
c.653T= (p.Val218=)
11g.67490834G>ACA6140990AIPc.1141G>A
c.645G>A (p.Val215=)
n.1676G>A
c.469-163G>A (n.469-163G>A)
c.465G>A (p.Val155=)
c.834G>A (p.Val278=)
c.826G>A (p.Val276Met)
c.657G>A (p.Val219=)
c.823G>A (p.Val275Met)
c.654G>A (p.Val218=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490834G>CCA475509494AIPc.1141G>C
c.645G>C (p.Val215=)
n.1676G>C
c.469-163G>C (n.469-163G>C)
c.465G>C (p.Val155=)
c.834G>C (p.Val278=)
c.826G>C (p.Val276Leu)
c.657G>C (p.Val219=)
c.823G>C (p.Val275Leu)
c.654G>C (p.Val218=)
11g.67490834G=CA1980172660AIPc.1141G=
c.645G= (p.Val215=)
n.1676G=
c.469-163G= (n.469-163G=)
c.465G= (p.Val155=)
c.834G= (p.Val278=)
c.826G= (p.Val276=)
c.657G= (p.Val219=)
c.823G= (p.Val275=)
c.654G= (p.Val218=)
11g.67490834G>TCA475509495AIPc.1141G>T
c.645G>T (p.Val215=)
n.1676G>T
c.469-163G>T (n.469-163G>T)
c.465G>T (p.Val155=)
c.834G>T (p.Val278=)
c.826G>T (p.Val276Leu)
c.657G>T (p.Val219=)
c.823G>T (p.Val275Leu)
c.654G>T (p.Val218=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.67490835T>ACA381554685AIPc.1142T>A
c.646T>A (p.Trp216Arg)
n.1677T>A
c.469-162T>A (n.469-162T>A)
c.466T>A (p.Trp156Arg)
c.835T>A (p.Trp279Arg)
c.827T>A (p.Val276Glu)
c.658T>A (p.Trp220Arg)
c.824T>A (p.Val275Glu)
c.655T>A (p.Trp219Arg)
11g.67490835T>CCA381554690AIPc.1142T>C
c.646T>C (p.Trp216Arg)
n.1677T>C
c.469-162T>C (n.469-162T>C)
c.466T>C (p.Trp156Arg)
c.835T>C (p.Trp279Arg)
c.827T>C (p.Val276Ala)
c.658T>C (p.Trp220Arg)
c.824T>C (p.Val275Ala)
c.655T>C (p.Trp219Arg)
11g.67490835T>GCA381554689AIPc.1142T>G
c.646T>G (p.Trp216Gly)
n.1677T>G
c.469-162T>G (n.469-162T>G)
c.466T>G (p.Trp156Gly)
c.835T>G (p.Trp279Gly)
c.827T>G (p.Val276Gly)
c.658T>G (p.Trp220Gly)
c.824T>G (p.Val275Gly)
c.655T>G (p.Trp219Gly)
11g.67490836G>ACA381554692AIPc.1143G>A
c.647G>A (p.Trp216Ter)
n.1678G>A
c.469-161G>A (n.469-161G>A)
c.467G>A (p.Trp156Ter)
c.836G>A (p.Trp279Ter)
c.828G>A (p.Val276=)
c.659G>A (p.Trp220Ter)
c.825G>A (p.Val275=)
c.656G>A (p.Trp219Ter)
 dbSNP
11g.67490836G>CCA381554695AIPc.1143G>C
c.647G>C (p.Trp216Ser)
n.1678G>C
c.469-161G>C (n.469-161G>C)
c.467G>C (p.Trp156Ser)
c.836G>C (p.Trp279Ser)
c.828G>C (p.Val276=)
c.659G>C (p.Trp220Ser)
c.825G>C (p.Val275=)
c.656G>C (p.Trp219Ser)
11g.67490836G=CA1980172661AIPc.1143G=
c.647G= (p.Trp216=)
n.1678G=
c.469-161G= (n.469-161G=)
c.467G= (p.Trp156=)
c.836G= (p.Trp279=)
c.828G= (p.Val276=)
c.659G= (p.Trp220=)
c.825G= (p.Val275=)
c.656G= (p.Trp219=)
11g.67490836G>TCA381554696AIPc.1143G>T
c.647G>T (p.Trp216Leu)
n.1678G>T
c.469-161G>T (n.469-161G>T)
c.467G>T (p.Trp156Leu)
c.836G>T (p.Trp279Leu)
c.828G>T (p.Val276=)
c.659G>T (p.Trp220Leu)
c.825G>T (p.Val275=)
c.656G>T (p.Trp219Leu)
11g.67490837G>ACA381554701AIPc.1144G>A
c.648G>A (p.Trp216Ter)
n.1679G>A
c.469-160G>A (n.469-160G>A)
c.468G>A (p.Trp156Ter)
c.837G>A (p.Trp279Ter)
c.829G>A (p.Glu277Lys)
c.660G>A (p.Trp220Ter)
c.826G>A (p.Glu276Lys)
c.657G>A (p.Trp219Ter)
11g.67490837G>CCA381554704AIPc.1144G>C
c.648G>C (p.Trp216Cys)
n.1679G>C
c.469-160G>C (n.469-160G>C)
c.468G>C (p.Trp156Cys)
c.837G>C (p.Trp279Cys)
c.829G>C (p.Glu277Gln)
c.660G>C (p.Trp220Cys)
c.826G>C (p.Glu276Gln)
c.657G>C (p.Trp219Cys)
11g.67490837G>TCA381554706AIPc.1144G>T
c.648G>T (p.Trp216Cys)
n.1679G>T
c.469-160G>T (n.469-160G>T)
c.468G>T (p.Trp156Cys)
c.837G>T (p.Trp279Cys)
c.829G>T (p.Glu277Ter)
c.660G>T (p.Trp220Cys)
c.826G>T (p.Glu276Ter)
c.657G>T (p.Trp219Cys)
11g.67490838A>CCA381554711AIPc.1145A>C
c.649A>C (p.Asn217His)
n.1680A>C
c.469-159A>C (n.469-159A>C)
c.469A>C (p.Asn157His)
c.838A>C (p.Asn280His)
c.830A>C (p.Glu277Ala)
c.661A>C (p.Asn221His)
c.827A>C (p.Glu276Ala)
c.658A>C (p.Asn220His)
11g.67490838A>GCA381554714AIPc.1145A>G
c.649A>G (p.Asn217Asp)
n.1680A>G
c.469-159A>G (n.469-159A>G)
c.469A>G (p.Asn157Asp)
c.838A>G (p.Asn280Asp)
c.830A>G (p.Glu277Gly)
c.661A>G (p.Asn221Asp)
c.827A>G (p.Glu276Gly)
c.658A>G (p.Asn220Asp)
11g.67490838A>TCA381554715AIPc.1145A>T
c.649A>T (p.Asn217Tyr)
n.1680A>T
c.469-159A>T (n.469-159A>T)
c.469A>T (p.Asn157Tyr)
c.838A>T (p.Asn280Tyr)
c.830A>T (p.Glu277Val)
c.661A>T (p.Asn221Tyr)
c.827A>T (p.Glu276Val)
c.658A>T (p.Asn220Tyr)
11g.67490839A>CCA381554719AIPc.1146A>C
c.650A>C (p.Asn217Thr)
n.1681A>C
c.469-158A>C (n.469-158A>C)
c.470A>C (p.Asn157Thr)
c.839A>C (p.Asn280Thr)
c.831A>C (p.Glu277Asp)
c.662A>C (p.Asn221Thr)
c.828A>C (p.Glu276Asp)
c.659A>C (p.Asn220Thr)
11g.67490839A>GCA381554722AIPc.1146A>G
c.650A>G (p.Asn217Ser)
n.1681A>G
c.469-158A>G (n.469-158A>G)
c.470A>G (p.Asn157Ser)
c.839A>G (p.Asn280Ser)
c.831A>G (p.Glu277=)
c.662A>G (p.Asn221Ser)
c.828A>G (p.Glu276=)
c.659A>G (p.Asn220Ser)
 ClinVar
11g.67490839A>TCA381554725AIPc.1146A>T
c.650A>T (p.Asn217Ile)
n.1681A>T
c.469-158A>T (n.469-158A>T)
c.470A>T (p.Asn157Ile)
c.839A>T (p.Asn280Ile)
c.831A>T (p.Glu277Asp)
c.662A>T (p.Asn221Ile)
c.828A>T (p.Glu276Asp)
c.659A>T (p.Asn220Ile)
11g.67490840T>ACA381554731AIPc.1147T>A
c.651T>A (p.Asn217Lys)
n.1682T>A
c.469-157T>A (n.469-157T>A)
c.471T>A (p.Asn157Lys)
c.840T>A (p.Asn280Lys)
c.832T>A (p.Cys278Ser)
c.663T>A (p.Asn221Lys)
c.829T>A (p.Cys277Ser)
c.660T>A (p.Asn220Lys)
11g.67490840T>CCA475509502AIPc.1147T>C
c.651T>C (p.Asn217=)
n.1682T>C
c.469-157T>C (n.469-157T>C)
c.471T>C (p.Asn157=)
c.840T>C (p.Asn280=)
c.832T>C (p.Cys278Arg)
c.663T>C (p.Asn221=)
c.829T>C (p.Cys277Arg)
c.660T>C (p.Asn220=)
11g.67490840T>GCA381554729AIPc.1147T>G
c.651T>G (p.Asn217Lys)
n.1682T>G
c.469-157T>G (n.469-157T>G)
c.471T>G (p.Asn157Lys)
c.840T>G (p.Asn280Lys)
c.832T>G (p.Cys278Gly)
c.663T>G (p.Asn221Lys)
c.829T>G (p.Cys277Gly)
c.660T>G (p.Asn220Lys)
11g.67490841G>ACA381554735AIPc.1148G>A
c.652G>A (p.Ala218Thr)
n.1683G>A
c.469-156G>A (n.469-156G>A)
c.472G>A (p.Ala158Thr)
c.841G>A (p.Ala281Thr)
c.833G>A (p.Cys278Tyr)
c.664G>A (p.Ala222Thr)
c.830G>A (p.Cys277Tyr)
c.661G>A (p.Ala221Thr)
11g.67490841G>CCA381554737AIPc.1148G>C
c.652G>C (p.Ala218Pro)
n.1683G>C
c.469-156G>C (n.469-156G>C)
c.472G>C (p.Ala158Pro)
c.841G>C (p.Ala281Pro)
c.833G>C (p.Cys278Ser)
c.664G>C (p.Ala222Pro)
c.830G>C (p.Cys277Ser)
c.661G>C (p.Ala221Pro)
11g.67490841G>TCA381554740AIPc.1148G>T
c.652G>T (p.Ala218Ser)
n.1683G>T
c.469-156G>T (n.469-156G>T)
c.472G>T (p.Ala158Ser)
c.841G>T (p.Ala281Ser)
c.833G>T (p.Cys278Phe)
c.664G>T (p.Ala222Ser)
c.830G>T (p.Cys277Phe)
c.661G>T (p.Ala221Ser)
11g.67490842C>ACA381554743AIPc.1149C>A
c.653C>A (p.Ala218Asp)
n.1684C>A
c.469-155C>A (n.469-155C>A)
c.473C>A (p.Ala158Asp)
c.842C>A (p.Ala281Asp)
c.834C>A (p.Cys278Ter)
c.665C>A (p.Ala222Asp)
c.831C>A (p.Cys277Ter)
c.662C>A (p.Ala221Asp)
11g.67490842C=CA1980172662AIPc.1149C=
c.653C= (p.Ala218=)
n.1684C=
c.469-155C= (n.469-155C=)
c.473C= (p.Ala158=)
c.842C= (p.Ala281=)
c.834C= (p.Cys278=)
c.665C= (p.Ala222=)
c.831C= (p.Cys277=)
c.662C= (p.Ala221=)
11g.67490842C>GCA381554746AIPc.1149C>G
c.653C>G (p.Ala218Gly)
n.1684C>G
c.469-155C>G (n.469-155C>G)
c.473C>G (p.Ala158Gly)
c.842C>G (p.Ala281Gly)
c.834C>G (p.Cys278Trp)
c.665C>G (p.Ala222Gly)
c.831C>G (p.Cys277Trp)
c.662C>G (p.Ala221Gly)
11g.67490842C>TCA381554749AIPc.1149C>T
c.653C>T (p.Ala218Val)
n.1684C>T
c.469-155C>T (n.469-155C>T)
c.473C>T (p.Ala158Val)
c.842C>T (p.Ala281Val)
c.834C>T (p.Cys278=)
c.665C>T (p.Ala222Val)
c.831C>T (p.Cys277=)
c.662C>T (p.Ala221Val)
 dbSNP
11g.67490844dupCA2695198923AIPc.1151dup
c.655dup (p.Gln219ProfsTer6)
n.1686dup
c.469-153dup (n.469-153dup)
c.475dup (p.Gln159ProfsTer6)
c.844dup (p.Gln282ProfsTer6)
c.836dup (p.Gly280ArgfsTer21)
c.667dup (p.Gln223ProfsTer6)
c.833dup (p.Gly279ArgfsTer21)
c.664dup (p.Gln222ProfsTer6)
 ClinVar
11g.67490843C>ACA475509506AIPc.1150C>A
c.654C>A (p.Ala218=)
n.1685C>A
c.469-154C>A (n.469-154C>A)
c.474C>A (p.Ala158=)
c.843C>A (p.Ala281=)
c.835C>A (p.Pro279Thr)
c.666C>A (p.Ala222=)
c.832C>A (p.Pro278Thr)
c.663C>A (p.Ala221=)
11g.67490843C>GCA475509507AIPc.1150C>G
c.654C>G (p.Ala218=)
n.1685C>G
c.469-154C>G (n.469-154C>G)
c.474C>G (p.Ala158=)
c.843C>G (p.Ala281=)
c.835C>G (p.Pro279Ala)
c.666C>G (p.Ala222=)
c.832C>G (p.Pro278Ala)
c.663C>G (p.Ala221=)
11g.67490843C>TCA475509508AIPc.1150C>T
c.654C>T (p.Ala218=)
n.1685C>T
c.469-154C>T (n.469-154C>T)
c.474C>T (p.Ala158=)
c.843C>T (p.Ala281=)
c.835C>T (p.Pro279Ser)
c.666C>T (p.Ala222=)
c.832C>T (p.Pro278Ser)
c.663C>T (p.Ala221=)
11g.67490844C>ACA381554753AIPc.1151C>A
c.655C>A (p.Gln219Lys)
n.1686C>A
c.469-153C>A (n.469-153C>A)
c.475C>A (p.Gln159Lys)
c.844C>A (p.Gln282Lys)
c.836C>A (p.Pro279Gln)
c.667C>A (p.Gln223Lys)
c.833C>A (p.Pro278Gln)
c.664C>A (p.Gln222Lys)
11g.67490844C>GCA381554763AIPc.1151C>G
c.655C>G (p.Gln219Glu)
n.1686C>G
c.469-153C>G (n.469-153C>G)
c.475C>G (p.Gln159Glu)
c.844C>G (p.Gln282Glu)
c.836C>G (p.Pro279Arg)
c.667C>G (p.Gln223Glu)
c.833C>G (p.Pro278Arg)
c.664C>G (p.Gln222Glu)
11g.67490844C>TCA381554767AIPc.1151C>T
c.655C>T (p.Gln219Ter)
n.1686C>T
c.469-153C>T (n.469-153C>T)
c.475C>T (p.Gln159Ter)
c.844C>T (p.Gln282Ter)
c.836C>T (p.Pro279Leu)
c.667C>T (p.Gln223Ter)
c.833C>T (p.Pro278Leu)
c.664C>T (p.Gln222Ter)
11g.67490845A>CCA381554772AIPc.1152A>C
c.656A>C (p.Gln219Pro)
n.1687A>C
c.469-152A>C (n.469-152A>C)
c.476A>C (p.Gln159Pro)
c.845A>C (p.Gln282Pro)
c.837A>C (p.Pro279=)
c.668A>C (p.Gln223Pro)
c.834A>C (p.Pro278=)
c.665A>C (p.Gln222Pro)
11g.67490845A>GCA381554774AIPc.1152A>G
c.656A>G (p.Gln219Arg)
n.1687A>G
c.469-152A>G (n.469-152A>G)
c.476A>G (p.Gln159Arg)
c.845A>G (p.Gln282Arg)
c.837A>G (p.Pro279=)
c.668A>G (p.Gln223Arg)
c.834A>G (p.Pro278=)
c.665A>G (p.Gln222Arg)
 ClinVar dbSNP
11g.67490845A>TCA381554778AIPc.1152A>T
c.656A>T (p.Gln219Leu)
n.1687A>T
c.469-152A>T (n.469-152A>T)
c.476A>T (p.Gln159Leu)
c.845A>T (p.Gln282Leu)
c.837A>T (p.Pro279=)
c.668A>T (p.Gln223Leu)
c.834A>T (p.Pro278=)
c.665A>T (p.Gln222Leu)
11g.67490846G>ACA475509514AIPc.1153G>A
c.657G>A (p.Gln219=)
n.1688G>A
c.469-151G>A (n.469-151G>A)
c.477G>A (p.Gln159=)
c.846G>A (p.Gln282=)
c.838G>A (p.Gly280Arg)
c.669G>A (p.Gln223=)
c.835G>A (p.Gly279Arg)
c.666G>A (p.Gln222=)
11g.67490846G>CCA381554793AIPc.1153G>C
c.657G>C (p.Gln219His)
n.1688G>C
c.469-151G>C (n.469-151G>C)
c.477G>C (p.Gln159His)
c.846G>C (p.Gln282His)
c.838G>C (p.Gly280Arg)
c.669G>C (p.Gln223His)
c.835G>C (p.Gly279Arg)
c.666G>C (p.Gln222His)
11g.67490846G>TCA381554781AIPc.1153G>T
c.657G>T (p.Gln219His)
n.1688G>T
c.469-151G>T (n.469-151G>T)
c.477G>T (p.Gln159His)
c.846G>T (p.Gln282His)
c.838G>T (p.Gly280Ter)
c.669G>T (p.Gln223His)
c.835G>T (p.Gly279Ter)
c.666G>T (p.Gln222His)
11g.67490847G>ACA381554796AIPc.1154G>A
c.658G>A (p.Glu220Lys)
n.1689G>A
c.469-150G>A (n.469-150G>A)
c.478G>A (p.Glu160Lys)
c.847G>A (p.Glu283Lys)
c.839G>A (p.Gly280Glu)
c.670G>A (p.Glu224Lys)
c.836G>A (p.Gly279Glu)
c.667G>A (p.Glu223Lys)
11g.67490847G>CCA381554799AIPc.1154G>C
c.658G>C (p.Glu220Gln)
n.1689G>C
c.469-150G>C (n.469-150G>C)
c.478G>C (p.Glu160Gln)
c.847G>C (p.Glu283Gln)
c.839G>C (p.Gly280Ala)
c.670G>C (p.Glu224Gln)
c.836G>C (p.Gly279Ala)
c.667G>C (p.Glu223Gln)
 COSMIC
11g.67490847G>TCA381554802AIPc.1154G>T
c.658G>T (p.Glu220Ter)
n.1689G>T
c.469-150G>T (n.469-150G>T)
c.478G>T (p.Glu160Ter)
c.847G>T (p.Glu283Ter)
c.839G>T (p.Gly280Val)
c.670G>T (p.Glu224Ter)
c.836G>T (p.Gly279Val)
c.667G>T (p.Glu223Ter)
11g.67490848A>CCA381554807AIPc.1155A>C
c.659A>C (p.Glu220Ala)
n.1690A>C
c.469-149A>C (n.469-149A>C)
c.479A>C (p.Glu160Ala)
c.848A>C (p.Glu283Ala)
c.840A>C (p.Gly280=)
c.671A>C (p.Glu224Ala)
c.837A>C (p.Gly279=)
c.668A>C (p.Glu223Ala)
11g.67490848A>GCA381554810AIPc.1155A>G
c.659A>G (p.Glu220Gly)
n.1690A>G
c.469-149A>G (n.469-149A>G)
c.479A>G (p.Glu160Gly)
c.848A>G (p.Glu283Gly)
c.840A>G (p.Gly280=)
c.671A>G (p.Glu224Gly)
c.837A>G (p.Gly279=)
c.668A>G (p.Glu223Gly)
11g.67490848A>TCA381554819AIPc.1155A>T
c.659A>T (p.Glu220Val)
n.1690A>T
c.469-149A>T (n.469-149A>T)
c.479A>T (p.Glu160Val)
c.848A>T (p.Glu283Val)
c.840A>T (p.Gly280=)
c.671A>T (p.Glu224Val)
c.837A>T (p.Gly279=)
c.668A>T (p.Glu223Val)
11g.67490849G>ACA475509521AIPc.1156G>A
c.660G>A (p.Glu220=)
n.1691G>A
c.469-148G>A (n.469-148G>A)
c.480G>A (p.Glu160=)
c.849G>A (p.Glu283=)
c.841G>A (p.Gly281Ser)
c.672G>A (p.Glu224=)
c.838G>A (p.Gly280Ser)
c.669G>A (p.Glu223=)
 ClinVar dbSNP
11g.67490849G>CCA381554820AIPc.1156G>C
c.660G>C (p.Glu220Asp)
n.1691G>C
c.469-148G>C (n.469-148G>C)
c.480G>C (p.Glu160Asp)
c.849G>C (p.Glu283Asp)
c.841G>C (p.Gly281Arg)
c.672G>C (p.Glu224Asp)
c.838G>C (p.Gly280Arg)
c.669G>C (p.Glu223Asp)
11g.67490849G>TCA381554822AIPc.1156G>T
c.660G>T (p.Glu220Asp)
n.1691G>T
c.469-148G>T (n.469-148G>T)
c.480G>T (p.Glu160Asp)
c.849G>T (p.Glu283Asp)
c.841G>T (p.Gly281Cys)
c.672G>T (p.Glu224Asp)
c.838G>T (p.Gly280Cys)
c.669G>T (p.Glu223Asp)
11g.67490850G>ACA381554828AIPc.1157G>A
c.661G>A (p.Ala221Thr)
n.1692G>A
c.469-147G>A (n.469-147G>A)
c.481G>A (p.Ala161Thr)
c.850G>A (p.Ala284Thr)
c.842G>A (p.Gly281Asp)
c.673G>A (p.Ala225Thr)
c.839G>A (p.Gly280Asp)
c.670G>A (p.Ala224Thr)
 ClinVar dbSNP gnomAD v2
11g.67490850G>CCA381554834AIPc.1157G>C
c.661G>C (p.Ala221Pro)
n.1692G>C
c.469-147G>C (n.469-147G>C)
c.481G>C (p.Ala161Pro)
c.850G>C (p.Ala284Pro)
c.842G>C (p.Gly281Ala)
c.673G>C (p.Ala225Pro)
c.839G>C (p.Gly280Ala)
c.670G>C (p.Ala224Pro)
11g.67490850G=CA1980172663AIPc.1157G=
c.661G= (p.Ala221=)
n.1692G=
c.469-147G= (n.469-147G=)
c.481G= (p.Ala161=)
c.850G= (p.Ala284=)
c.842G= (p.Gly281=)
c.673G= (p.Ala225=)
c.839G= (p.Gly280=)
c.670G= (p.Ala224=)
11g.67490850G>TCA381554831AIPc.1157G>T
c.661G>T (p.Ala221Ser)
n.1692G>T
c.469-147G>T (n.469-147G>T)
c.481G>T (p.Ala161Ser)
c.850G>T (p.Ala284Ser)
c.842G>T (p.Gly281Val)
c.673G>T (p.Ala225Ser)
c.839G>T (p.Gly280Val)
c.670G>T (p.Ala224Ser)
11g.67490851C>ACA381554839AIPc.1158C>A
c.662C>A (p.Ala221Asp)
n.1693C>A
c.469-146C>A (n.469-146C>A)
c.482C>A (p.Ala161Asp)
c.851C>A (p.Ala284Asp)
c.843C>A (p.Gly281=)
c.674C>A (p.Ala225Asp)
c.840C>A (p.Gly280=)
c.671C>A (p.Ala224Asp)
 COSMIC
11g.67490851C>GCA381554842AIPc.1158C>G
c.662C>G (p.Ala221Gly)
n.1693C>G
c.469-146C>G (n.469-146C>G)
c.482C>G (p.Ala161Gly)
c.851C>G (p.Ala284Gly)
c.843C>G (p.Gly281=)
c.674C>G (p.Ala225Gly)
c.840C>G (p.Gly280=)
c.671C>G (p.Ala224Gly)
 ClinVar dbSNP
11g.67490851C>TCA381554844AIPc.1158C>T
c.662C>T (p.Ala221Val)
n.1693C>T
c.469-146C>T (n.469-146C>T)
c.482C>T (p.Ala161Val)
c.851C>T (p.Ala284Val)
c.843C>T (p.Gly281=)
c.674C>T (p.Ala225Val)
c.840C>T (p.Gly280=)
c.671C>T (p.Ala224Val)
 ClinVar dbSNP gnomAD v4
11g.67490852C>ACA475509525AIPc.1159C>A
c.663C>A (p.Ala221=)
n.1694C>A
c.469-145C>A (n.469-145C>A)
c.483C>A (p.Ala161=)
c.852C>A (p.Ala284=)
c.844C>A (p.Pro282Thr)
c.675C>A (p.Ala225=)
c.841C>A (p.Pro281Thr)
c.672C>A (p.Ala224=)
11g.67490852C=CA1980172664AIPc.1159C=
c.663C= (p.Ala221=)
n.1694C=
c.469-145C= (n.469-145C=)
c.483C= (p.Ala161=)
c.852C= (p.Ala284=)
c.844C= (p.Pro282=)
c.675C= (p.Ala225=)
c.841C= (p.Pro281=)
c.672C= (p.Ala224=)
11g.67490852C>GCA6140991AIPc.1159C>G
c.663C>G (p.Ala221=)
n.1694C>G
c.469-145C>G (n.469-145C>G)
c.483C>G (p.Ala161=)
c.852C>G (p.Ala284=)
c.844C>G (p.Pro282Ala)
c.675C>G (p.Ala225=)
c.841C>G (p.Pro281Ala)
c.672C>G (p.Ala224=)
 dbSNP ExAC gnomAD v4
11g.67490852C>TCA475509526AIPc.1159C>T
c.663C>T (p.Ala221=)
n.1694C>T
c.469-145C>T (n.469-145C>T)
c.483C>T (p.Ala161=)
c.852C>T (p.Ala284=)
c.844C>T (p.Pro282Ser)
c.675C>T (p.Ala225=)
c.841C>T (p.Pro281Ser)
c.672C>T (p.Ala224=)
 ClinVar dbSNP gnomAD v4
11g.67490852_67490856delinsCCAGGCA1980172665AIPc.1159_1163delinsCCAGG
c.663_667delinsCCAGG (p.Ala221=)
n.1694_1698delinsCCAGG
c.469-145_469-141delinsCCAGG (n.469-145_469-141delinsCCAGG)
c.483_487delinsCCAGG (p.Ala161=)
c.852_856delinsCCAGG (p.Ala284=)
c.844_848delinsCCAGG (p.Pro282=)
c.675_679delinsCCAGG (p.Ala225=)
c.841_845delinsCCAGG (p.Pro281=)
c.672_676delinsCCAGG (p.Ala224=)
11g.67490853C>ACA381554855AIPc.1160C>A
c.664C>A (p.Gln222Lys)
n.1695C>A
c.469-144C>A (n.469-144C>A)
c.484C>A (p.Gln162Lys)
c.853C>A (p.Gln285Lys)
c.845C>A (p.Pro282Gln)
c.676C>A (p.Gln226Lys)
c.842C>A (p.Pro281Gln)
c.673C>A (p.Gln225Lys)
11g.67490853C>GCA381554868AIPc.1160C>G
c.664C>G (p.Gln222Glu)
n.1695C>G
c.469-144C>G (n.469-144C>G)
c.484C>G (p.Gln162Glu)
c.853C>G (p.Gln285Glu)
c.845C>G (p.Pro282Arg)
c.676C>G (p.Gln226Glu)
c.842C>G (p.Pro281Arg)
c.673C>G (p.Gln225Glu)
11g.67490853C>TCA381554863AIPc.1160C>T
c.664C>T (p.Gln222Ter)
n.1695C>T
c.469-144C>T (n.469-144C>T)
c.484C>T (p.Gln162Ter)
c.853C>T (p.Gln285Ter)
c.845C>T (p.Pro282Leu)
c.676C>T (p.Gln226Ter)
c.842C>T (p.Pro281Leu)
c.673C>T (p.Gln225Ter)
11g.67490854_67490857delCA344209AIPc.1161_1164del
c.665_668del (p.Gln222LeufsTer17)
n.1696_1699del
c.469-143_469-140del (n.469-143_469-140del)
c.485_488del (p.Gln162LeufsTer17)
c.854_857del (p.Gln285LeufsTer17)
c.846_849del (p.Gly283AspfsTer?)
c.677_680del (p.Gln226LeufsTer17)
c.843_846del (p.Gly282AspfsTer?)
c.674_677del (p.Gln225LeufsTer17)
c.665_668del (p.Gln222LeufsTer?)
 ClinVar dbSNP
11g.67490854A>CCA381554872AIPc.1161A>C
c.665A>C (p.Gln222Pro)
n.1696A>C
c.469-143A>C (n.469-143A>C)
c.485A>C (p.Gln162Pro)
c.854A>C (p.Gln285Pro)
c.846A>C (p.Pro282=)
c.677A>C (p.Gln226Pro)
c.843A>C (p.Pro281=)
c.674A>C (p.Gln225Pro)
11g.67490854A>GCA381554874AIPc.1161A>G
c.665A>G (p.Gln222Arg)
n.1696A>G
c.469-143A>G (n.469-143A>G)
c.485A>G (p.Gln162Arg)
c.854A>G (p.Gln285Arg)
c.846A>G (p.Pro282=)
c.677A>G (p.Gln226Arg)
c.843A>G (p.Pro281=)
c.674A>G (p.Gln225Arg)
11g.67490854A>TCA381554877AIPc.1161A>T
c.665A>T (p.Gln222Leu)
n.1696A>T
c.469-143A>T (n.469-143A>T)
c.485A>T (p.Gln162Leu)
c.854A>T (p.Gln285Leu)
c.846A>T (p.Pro282=)
c.677A>T (p.Gln226Leu)
c.843A>T (p.Pro281=)
c.674A>T (p.Gln225Leu)
11g.67490855G>ACA475509532AIPc.1162G>A
c.666G>A (p.Gln222=)
n.1697G>A
c.469-142G>A (n.469-142G>A)
c.486G>A (p.Gln162=)
c.855G>A (p.Gln285=)
c.847G>A (p.Gly283Ser)
c.678G>A (p.Gln226=)
c.844G>A (p.Gly282Ser)
c.675G>A (p.Gln225=)
11g.67490855G>CCA381554882AIPc.1162G>C
c.666G>C (p.Gln222His)
n.1697G>C
c.469-142G>C (n.469-142G>C)
c.486G>C (p.Gln162His)
c.855G>C (p.Gln285His)
c.847G>C (p.Gly283Arg)
c.678G>C (p.Gln226His)
c.844G>C (p.Gly282Arg)
c.675G>C (p.Gln225His)
 ClinVar dbSNP
11g.67490855G=CA1980172666AIPc.1162G=
c.666G= (p.Gln222=)
n.1697G=
c.469-142G= (n.469-142G=)
c.486G= (p.Gln162=)
c.855G= (p.Gln285=)
c.847G= (p.Gly283=)
c.678G= (p.Gln226=)
c.844G= (p.Gly282=)
c.675G= (p.Gln225=)
11g.67490855G>TCA381554885AIPc.1162G>T
c.666G>T (p.Gln222His)
n.1697G>T
c.469-142G>T (n.469-142G>T)
c.486G>T (p.Gln162His)
c.855G>T (p.Gln285His)
c.847G>T (p.Gly283Cys)
c.678G>T (p.Gln226His)
c.844G>T (p.Gly282Cys)
c.675G>T (p.Gln225His)
 gnomAD v4
11g.67490856G>ACA381554886AIPc.1163G>A
c.667G>A (p.Ala223Thr)
n.1698G>A
c.469-141G>A (n.469-141G>A)
c.487G>A (p.Ala163Thr)
c.856G>A (p.Ala286Thr)
c.848G>A (p.Gly283Asp)
c.679G>A (p.Ala227Thr)
c.845G>A (p.Gly282Asp)
c.676G>A (p.Ala226Thr)
 ClinVar dbSNP
11g.67490856G>CCA381554887AIPc.1163G>C
c.667G>C (p.Ala223Pro)
n.1698G>C
c.469-141G>C (n.469-141G>C)
c.487G>C (p.Ala163Pro)
c.856G>C (p.Ala286Pro)
c.848G>C (p.Gly283Ala)
c.679G>C (p.Ala227Pro)
c.845G>C (p.Gly282Ala)
c.676G>C (p.Ala226Pro)
11g.67490856G=CA1980172667AIPc.1163G=
c.667G= (p.Ala223=)
n.1698G=
c.469-141G= (n.469-141G=)
c.487G= (p.Ala163=)
c.856G= (p.Ala286=)
c.848G= (p.Gly283=)
c.679G= (p.Ala227=)
c.845G= (p.Gly282=)
c.676G= (p.Ala226=)
11g.67490856G>TCA381554888AIPc.1163G>T
c.667G>T (p.Ala223Ser)
n.1698G>T
c.469-141G>T (n.469-141G>T)
c.487G>T (p.Ala163Ser)
c.856G>T (p.Ala286Ser)
c.848G>T (p.Gly283Val)
c.679G>T (p.Ala227Ser)
c.845G>T (p.Gly282Val)
c.676G>T (p.Ala226Ser)
11g.67490857C>ACA381554891AIPc.1164C>A
c.668C>A (p.Ala223Asp)
n.1699C>A
c.469-140C>A (n.469-140C>A)
c.488C>A (p.Ala163Asp)
c.857C>A (p.Ala286Asp)
c.849C>A (p.Gly283=)
c.680C>A (p.Ala227Asp)
c.846C>A (p.Gly282=)
c.677C>A (p.Ala226Asp)
 dbSNP
11g.67490857C=CA1980172668AIPc.1164C=
c.668C= (p.Ala223=)
n.1699C=
c.469-140C= (n.469-140C=)
c.488C= (p.Ala163=)
c.857C= (p.Ala286=)
c.849C= (p.Gly283=)
c.680C= (p.Ala227=)
c.846C= (p.Gly282=)
c.677C= (p.Ala226=)
11g.67490857C>GCA381554893AIPc.1164C>G
c.668C>G (p.Ala223Gly)
n.1699C>G
c.469-140C>G (n.469-140C>G)
c.488C>G (p.Ala163Gly)
c.857C>G (p.Ala286Gly)
c.849C>G (p.Gly283=)
c.680C>G (p.Ala227Gly)
c.846C>G (p.Gly282=)
c.677C>G (p.Ala226Gly)
11g.67490857C>TCA6140992AIPc.1164C>T
c.668C>T (p.Ala223Val)
n.1699C>T
c.469-140C>T (n.469-140C>T)
c.488C>T (p.Ala163Val)
c.857C>T (p.Ala286Val)
c.849C>T (p.Gly283=)
c.680C>T (p.Ala227Val)
c.846C>T (p.Gly282=)
c.677C>T (p.Ala226Val)
 ClinVar dbSNP ExAC gnomAD v4
11g.67490858T>ACA475509538AIPc.1165T>A
c.669T>A (p.Ala223=)
n.1700T>A
c.469-139T>A (n.469-139T>A)
c.489T>A (p.Ala163=)
c.858T>A (p.Ala286=)
c.850T>A (p.Ter284Arg)
c.681T>A (p.Ala227=)
c.847T>A (p.Ter283Arg)
c.678T>A (p.Ala226=)
11g.67490858T>CCA475509537AIPc.1165T>C
c.669T>C (p.Ala223=)
n.1700T>C
c.469-139T>C (n.469-139T>C)
c.489T>C (p.Ala163=)
c.858T>C (p.Ala286=)
c.850T>C (p.Ter284Arg)
c.681T>C (p.Ala227=)
c.847T>C (p.Ter283Arg)
c.678T>C (p.Ala226=)
 ClinVar dbSNP
11g.67490858T>GCA475509535AIPc.1165T>G
c.669T>G (p.Ala223=)
n.1700T>G
c.469-139T>G (n.469-139T>G)
c.489T>G (p.Ala163=)
c.858T>G (p.Ala286=)
c.850T>G (p.Ter284Gly)
c.681T>G (p.Ala227=)
c.847T>G (p.Ter283Gly)
c.678T>G (p.Ala226=)
11g.67490858T=CA1980172669AIPc.1165T=
c.669T= (p.Ala223=)
n.1700T=
c.469-139T= (n.469-139T=)
c.489T= (p.Ala163=)
c.858T= (p.Ala286=)
c.850T= (p.Ter284=)
c.681T= (p.Ala227=)
c.847T= (p.Ter283=)
c.678T= (p.Ala226=)
11g.67490859G>ACA381554905AIPc.1166G>A
c.670G>A (p.Asp224Asn)
n.1701G>A
c.469-138G>A (n.469-138G>A)
c.490G>A (p.Asp164Asn)
c.859G>A (p.Asp287Asn)
c.851G>A (p.Ter284=)
c.682G>A (p.Asp228Asn)
c.848G>A (p.Ter283=)
c.679G>A (p.Asp227Asn)
11g.67490859G>CCA381554906AIPc.1166G>C
c.670G>C (p.Asp224His)
n.1701G>C
c.469-138G>C (n.469-138G>C)
c.490G>C (p.Asp164His)
c.859G>C (p.Asp287His)
c.851G>C (p.Ter284Ser)
c.682G>C (p.Asp228His)
c.848G>C (p.Ter283Ser)
c.679G>C (p.Asp227His)
11g.67490859G>TCA381554902AIPc.1166G>T
c.670G>T (p.Asp224Tyr)
n.1701G>T
c.469-138G>T (n.469-138G>T)
c.490G>T (p.Asp164Tyr)
c.859G>T (p.Asp287Tyr)
c.851G>T (p.Ter284Leu)
c.682G>T (p.Asp228Tyr)
c.848G>T (p.Ter283Leu)
c.679G>T (p.Asp227Tyr)
11g.67490860A>CCA381554911AIPc.1167A>C
c.671A>C (p.Asp224Ala)
n.1702A>C
c.469-137A>C (n.469-137A>C)
c.491A>C (p.Asp164Ala)
c.860A>C (p.Asp287Ala)
c.852A>C (p.Ter284Cys)
c.683A>C (p.Asp228Ala)
c.849A>C (p.Ter283Cys)
c.680A>C (p.Asp227Ala)
11g.67490860A>GCA381554915AIPc.1167A>G
c.671A>G (p.Asp224Gly)
n.1702A>G
c.469-137A>G (n.469-137A>G)
c.491A>G (p.Asp164Gly)
c.860A>G (p.Asp287Gly)
c.852A>G (p.Ter284Trp)
c.683A>G (p.Asp228Gly)
c.849A>G (p.Ter283Trp)
c.680A>G (p.Asp227Gly)
11g.67490860A>TCA381554919AIPc.1167A>T
c.671A>T (p.Asp224Val)
n.1702A>T
c.469-137A>T (n.469-137A>T)
c.491A>T (p.Asp164Val)
c.860A>T (p.Asp287Val)
c.852A>T (p.Ter284Cys)
c.683A>T (p.Asp228Val)
c.849A>T (p.Ter283Cys)
c.680A>T (p.Asp227Val)
11g.67490861C>ACA381554923AIPc.1168C>A
c.672C>A (p.Asp224Glu)
n.1703C>A
c.469-136C>A (n.469-136C>A)
c.492C>A (p.Asp164Glu)
c.861C>A (p.Asp287Glu)
c.*1C>A (n.*1C>A)
c.684C>A (p.Asp228Glu)
c.681C>A (p.Asp227Glu)
11g.67490861C>GCA381554927AIPc.1168C>G
c.672C>G (p.Asp224Glu)
n.1703C>G
c.469-136C>G (n.469-136C>G)
c.492C>G (p.Asp164Glu)
c.861C>G (p.Asp287Glu)
c.*1C>G (n.*1C>G)
c.684C>G (p.Asp228Glu)
c.681C>G (p.Asp227Glu)
11g.67490861C>TCA475509540AIPc.1168C>T
c.672C>T (p.Asp224=)
n.1703C>T
c.469-136C>T (n.469-136C>T)
c.492C>T (p.Asp164=)
c.861C>T (p.Asp287=)
c.*1C>T (n.*1C>T)
c.684C>T (p.Asp228=)
c.681C>T (p.Asp227=)
11g.67490862T>ACA381554931AIPc.1169T>A
c.673T>A (p.Phe225Ile)
n.1704T>A
c.469-135T>A (n.469-135T>A)
c.493T>A (p.Phe165Ile)
c.862T>A (p.Phe288Ile)
c.*2T>A (n.*2T>A)
c.685T>A (p.Phe229Ile)
c.682T>A (p.Phe228Ile)
 dbSNP
11g.67490862T>CCA381554935AIPc.1169T>C
c.673T>C (p.Phe225Leu)
n.1704T>C
c.469-135T>C (n.469-135T>C)
c.493T>C (p.Phe165Leu)
c.862T>C (p.Phe288Leu)
c.*2T>C (n.*2T>C)
c.685T>C (p.Phe229Leu)
c.682T>C (p.Phe228Leu)
11g.67490862T>GCA381554938AIPc.1169T>G
c.673T>G (p.Phe225Val)
n.1704T>G
c.469-135T>G (n.469-135T>G)
c.493T>G (p.Phe165Val)
c.862T>G (p.Phe288Val)
c.*2T>G (n.*2T>G)
c.685T>G (p.Phe229Val)
c.682T>G (p.Phe228Val)
11g.67490862T=CA1980172670AIPc.1169T=
c.673T= (p.Phe225=)
n.1704T=
c.469-135T= (n.469-135T=)
c.493T= (p.Phe165=)
c.862T= (p.Phe288=)
c.*2T= (n.*2T=)
c.685T= (p.Phe229=)
c.682T= (p.Phe228=)
11g.67490863_67490864delCA2614626118AIPc.1170_1171del
c.674_675del (p.Phe225CysfsTer?)
n.1705_1706del
c.469-134_469-133del (n.469-134_469-133del)
c.494_495del (p.Phe165CysfsTer?)
c.863_864del (p.Phe288CysfsTer?)
c.*3_*4del (n.*3_*4del)
c.686_687del (p.Phe229CysfsTer?)
c.683_684del (p.Phe228CysfsTer?)
 gnomAD v4
11g.67490863T>ACA381554945AIPc.1170T>A
c.674T>A (p.Phe225Tyr)
n.1705T>A
c.469-134T>A (n.469-134T>A)
c.494T>A (p.Phe165Tyr)
c.863T>A (p.Phe288Tyr)
c.*3T>A (n.*3T>A)
c.686T>A (p.Phe229Tyr)
c.683T>A (p.Phe228Tyr)
11g.67490863T>CCA381554949AIPc.1170T>C
c.674T>C (p.Phe225Ser)
n.1705T>C
c.469-134T>C (n.469-134T>C)
c.494T>C (p.Phe165Ser)
c.863T>C (p.Phe288Ser)
c.*3T>C (n.*3T>C)
c.686T>C (p.Phe229Ser)
c.683T>C (p.Phe228Ser)
11g.67490863T>GCA381554947AIPc.1170T>G
c.674T>G (p.Phe225Cys)
n.1705T>G
c.469-134T>G (n.469-134T>G)
c.494T>G (p.Phe165Cys)
c.863T>G (p.Phe288Cys)
c.*3T>G (n.*3T>G)
c.686T>G (p.Phe229Cys)
c.683T>G (p.Phe228Cys)
11g.67490864T>ACA381554957AIPc.1171T>A
c.675T>A (p.Phe225Leu)
n.1706T>A
c.469-133T>A (n.469-133T>A)
c.495T>A (p.Phe165Leu)
c.864T>A (p.Phe288Leu)
c.*4T>A (n.*4T>A)
c.687T>A (p.Phe229Leu)
c.684T>A (p.Phe228Leu)
11g.67490864T>CCA475509544AIPc.1171T>C
c.675T>C (p.Phe225=)
n.1706T>C
c.469-133T>C (n.469-133T>C)
c.495T>C (p.Phe165=)
c.864T>C (p.Phe288=)
c.*4T>C (n.*4T>C)
c.687T>C (p.Phe229=)
c.684T>C (p.Phe228=)
 ClinVar gnomAD v4
11g.67490864T>GCA381554959AIPc.1171T>G
c.675T>G (p.Phe225Leu)
n.1706T>G
c.469-133T>G (n.469-133T>G)
c.495T>G (p.Phe165Leu)
c.864T>G (p.Phe288Leu)
c.*4T>G (n.*4T>G)
c.687T>G (p.Phe229Leu)
c.684T>G (p.Phe228Leu)
11g.67490865G>ACA381554966AIPc.1172G>A
c.676G>A (p.Ala226Thr)
n.1707G>A
c.469-132G>A (n.469-132G>A)
c.496G>A (p.Ala166Thr)
c.865G>A (p.Ala289Thr)
c.*5G>A (n.*5G>A)
c.688G>A (p.Ala230Thr)
c.685G>A (p.Ala229Thr)
 ClinVar dbSNP
11g.67490865G>CCA381554970AIPc.1172G>C
c.676G>C (p.Ala226Pro)
n.1707G>C
c.469-132G>C (n.469-132G>C)
c.496G>C (p.Ala166Pro)
c.865G>C (p.Ala289Pro)
c.*5G>C (n.*5G>C)
c.688G>C (p.Ala230Pro)
c.685G>C (p.Ala229Pro)
11g.67490865G=CA1980172671AIPc.1172G=
c.676G= (p.Ala226=)
n.1707G=
c.469-132G= (n.469-132G=)
c.496G= (p.Ala166=)
c.865G= (p.Ala289=)
c.*5G= (n.*5G=)
c.688G= (p.Ala230=)
c.685G= (p.Ala229=)
11g.67490865G>TCA381554974AIPc.1172G>T
c.676G>T (p.Ala226Ser)
n.1707G>T
c.469-132G>T (n.469-132G>T)
c.496G>T (p.Ala166Ser)
c.865G>T (p.Ala289Ser)
c.*5G>T (n.*5G>T)
c.688G>T (p.Ala230Ser)
c.685G>T (p.Ala229Ser)
11g.67490866C>ACA381554981AIPc.1173C>A
c.677C>A (p.Ala226Asp)
n.1708C>A
c.469-131C>A (n.469-131C>A)
c.497C>A (p.Ala166Asp)
c.866C>A (p.Ala289Asp)
c.*6C>A (n.*6C>A)
c.689C>A (p.Ala230Asp)
c.686C>A (p.Ala229Asp)
11g.67490866C=CA1980172672AIPc.1173C=
c.677C= (p.Ala226=)
n.1708C=
c.469-131C= (n.469-131C=)
c.497C= (p.Ala166=)
c.866C= (p.Ala289=)
c.*6C= (n.*6C=)
c.689C= (p.Ala230=)
c.686C= (p.Ala229=)
11g.67490866C>GCA381554988AIPc.1173C>G
c.677C>G (p.Ala226Gly)
n.1708C>G
c.469-131C>G (n.469-131C>G)
c.497C>G (p.Ala166Gly)
c.866C>G (p.Ala289Gly)
c.*6C>G (n.*6C>G)
c.689C>G (p.Ala230Gly)
c.686C>G (p.Ala229Gly)
11g.67490866C>TCA381554985AIPc.1173C>T
c.677C>T (p.Ala226Val)
n.1708C>T
c.469-131C>T (n.469-131C>T)
c.497C>T (p.Ala166Val)
c.866C>T (p.Ala289Val)
c.*6C>T (n.*6C>T)
c.689C>T (p.Ala230Val)
c.686C>T (p.Ala229Val)
 ClinVar dbSNP
11g.67490867C>ACA6140993AIPc.1174C>A
c.678C>A (p.Ala226=)
n.1709C>A
c.469-130C>A (n.469-130C>A)
c.498C>A (p.Ala166=)
c.867C>A (p.Ala289=)
c.*7C>A (n.*7C>A)
c.690C>A (p.Ala230=)
c.687C>A (p.Ala229=)
 dbSNP ExAC gnomAD v2
11g.67490867C=CA1980172673AIPc.1174C=
c.678C= (p.Ala226=)
n.1709C=
c.469-130C= (n.469-130C=)
c.498C= (p.Ala166=)
c.867C= (p.Ala289=)
c.*7C= (n.*7C=)
c.690C= (p.Ala230=)
c.687C= (p.Ala229=)
11g.67490867C>GCA475509549AIPc.1174C>G
c.678C>G (p.Ala226=)
n.1709C>G
c.469-130C>G (n.469-130C>G)
c.498C>G (p.Ala166=)
c.867C>G (p.Ala289=)
c.*7C>G (n.*7C>G)
c.690C>G (p.Ala230=)
c.687C>G (p.Ala229=)
11g.67490867C>TCA475509551AIPc.1174C>T
c.678C>T (p.Ala226=)
n.1709C>T
c.469-130C>T (n.469-130C>T)
c.498C>T (p.Ala166=)
c.867C>T (p.Ala289=)
c.*7C>T (n.*7C>T)
c.690C>T (p.Ala230=)
c.687C>T (p.Ala229=)
 gnomAD v4
11g.67490868A=CA1980172674AIPc.1175A=
c.679A= (p.Lys227=)
n.1710A=
c.469-129A= (n.469-129A=)
c.499A= (p.Lys167=)
c.868A= (p.Lys290=)
c.*8A= (n.*8A=)
c.691A= (p.Lys231=)
c.688A= (p.Lys230=)
11g.67490868A>CCA381554997AIPc.1175A>C
c.679A>C (p.Lys227Gln)
n.1710A>C
c.469-129A>C (n.469-129A>C)
c.499A>C (p.Lys167Gln)
c.868A>C (p.Lys290Gln)
c.*8A>C (n.*8A>C)
c.691A>C (p.Lys231Gln)
c.688A>C (p.Lys230Gln)
11g.67490868A>GCA381555000AIPc.1175A>G
c.679A>G (p.Lys227Glu)
n.1710A>G
c.469-129A>G (n.469-129A>G)
c.499A>G (p.Lys167Glu)
c.868A>G (p.Lys290Glu)
c.*8A>G (n.*8A>G)
c.691A>G (p.Lys231Glu)
c.688A>G (p.Lys230Glu)
 dbSNP gnomAD v3 gnomAD v4
11g.67490868A>TCA381555002AIPc.1175A>T
c.679A>T (p.Lys227Ter)
n.1710A>T
c.469-129A>T (n.469-129A>T)
c.499A>T (p.Lys167Ter)
c.868A>T (p.Lys290Ter)
c.*8A>T (n.*8A>T)
c.691A>T (p.Lys231Ter)
c.688A>T (p.Lys230Ter)
11g.67490869A>CCA381555004AIPc.1176A>C
c.680A>C (p.Lys227Thr)
n.1711A>C
c.469-128A>C (n.469-128A>C)
c.500A>C (p.Lys167Thr)
c.869A>C (p.Lys290Thr)
c.*9A>C (n.*9A>C)
c.692A>C (p.Lys231Thr)
c.689A>C (p.Lys230Thr)
11g.67490869A>GCA381555007AIPc.1176A>G
c.680A>G (p.Lys227Arg)
n.1711A>G
c.469-128A>G (n.469-128A>G)
c.500A>G (p.Lys167Arg)
c.869A>G (p.Lys290Arg)
c.*9A>G (n.*9A>G)
c.692A>G (p.Lys231Arg)
c.689A>G (p.Lys230Arg)
 ClinVar
11g.67490869A>TCA381555010AIPc.1176A>T
c.680A>T (p.Lys227Ile)
n.1711A>T
c.469-128A>T (n.469-128A>T)
c.500A>T (p.Lys167Ile)
c.869A>T (p.Lys290Ile)
c.*9A>T (n.*9A>T)
c.692A>T (p.Lys231Ile)
c.689A>T (p.Lys230Ile)
11g.67490870A>CCA381555014AIPc.1177A>C
c.681A>C (p.Lys227Asn)
n.1712A>C
c.469-127A>C (n.469-127A>C)
c.501A>C (p.Lys167Asn)
c.870A>C (p.Lys290Asn)
c.*10A>C (n.*10A>C)
c.693A>C (p.Lys231Asn)
c.690A>C (p.Lys230Asn)
11g.67490870A>GCA475509553AIPc.1177A>G
c.681A>G (p.Lys227=)
n.1712A>G
c.469-127A>G (n.469-127A>G)
c.501A>G (p.Lys167=)
c.870A>G (p.Lys290=)
c.*10A>G (n.*10A>G)
c.693A>G (p.Lys231=)
c.690A>G (p.Lys230=)
 gnomAD v3 gnomAD v4
11g.67490870A>TCA381555016AIPc.1177A>T
c.681A>T (p.Lys227Asn)
n.1712A>T
c.469-127A>T (n.469-127A>T)
c.501A>T (p.Lys167Asn)
c.870A>T (p.Lys290Asn)
c.*10A>T (n.*10A>T)
c.693A>T (p.Lys231Asn)
c.690A>T (p.Lys230Asn)
11g.67490871G>ACA381555021AIPc.1178G>A
c.682G>A (p.Val228Met)
n.1713G>A
c.469-126G>A (n.469-126G>A)
c.502G>A (p.Val168Met)
c.871G>A (p.Val291Met)
c.*11G>A (n.*11G>A)
c.694G>A (p.Val232Met)
c.691G>A (p.Val231Met)
11g.67490871G>CCA381555026AIPc.1178G>C
c.682G>C (p.Val228Leu)
n.1713G>C
c.469-126G>C (n.469-126G>C)
c.502G>C (p.Val168Leu)
c.871G>C (p.Val291Leu)
c.*11G>C (n.*11G>C)
c.694G>C (p.Val232Leu)
c.691G>C (p.Val231Leu)
11g.67490871G>TCA381555030AIPc.1178G>T
c.682G>T (p.Val228Leu)
n.1713G>T
c.469-126G>T (n.469-126G>T)
c.502G>T (p.Val168Leu)
c.871G>T (p.Val291Leu)
c.*11G>T (n.*11G>T)
c.694G>T (p.Val232Leu)
c.691G>T (p.Val231Leu)
11g.67490872_67490877delCA2574896311AIPc.1179_1184del
c.683_688del (p.Val228_Leu229del)
n.1714_1719del
c.469-125_469-120del (n.469-125_469-120del)
c.503_508del (p.Val168_Leu169del)
c.872_877del (p.Val291_Leu292del)
c.*12_*17del (n.*12_*17del)
c.695_700del (p.Val232_Leu233del)
c.692_697del (p.Val231_Leu232del)
11g.67490872T>ACA381555035AIPc.1179T>A
c.683T>A (p.Val228Glu)
n.1714T>A
c.469-125T>A (n.469-125T>A)
c.503T>A (p.Val168Glu)
c.872T>A (p.Val291Glu)
c.*12T>A (n.*12T>A)
c.695T>A (p.Val232Glu)
c.692T>A (p.Val231Glu)
 dbSNP gnomAD v2 gnomAD v4
11g.67490872T>CCA381555042AIPc.1179T>C
c.683T>C (p.Val228Ala)
n.1714T>C
c.469-125T>C (n.469-125T>C)
c.503T>C (p.Val168Ala)
c.872T>C (p.Val291Ala)
c.*12T>C (n.*12T>C)
c.695T>C (p.Val232Ala)
c.692T>C (p.Val231Ala)
11g.67490872T>GCA381555039AIPc.1179T>G
c.683T>G (p.Val228Gly)
n.1714T>G
c.469-125T>G (n.469-125T>G)
c.503T>G (p.Val168Gly)
c.872T>G (p.Val291Gly)
c.*12T>G (n.*12T>G)
c.695T>G (p.Val232Gly)
c.692T>G (p.Val231Gly)
11g.67490872T=CA1980172675AIPc.1179T=
c.683T= (p.Val228=)
n.1714T=
c.469-125T= (n.469-125T=)
c.503T= (p.Val168=)
c.872T= (p.Val291=)
c.*12T= (n.*12T=)
c.695T= (p.Val232=)
c.692T= (p.Val231=)
11g.67490873G>ACA475509555AIPc.1180G>A
c.684G>A (p.Val228=)
n.1715G>A
c.469-124G>A (n.469-124G>A)
c.504G>A (p.Val168=)
c.873G>A (p.Val291=)
c.*13G>A (n.*13G>A)
c.696G>A (p.Val232=)
c.693G>A (p.Val231=)
11g.67490873G>CCA475509556AIPc.1180G>C
c.684G>C (p.Val228=)
n.1715G>C
c.469-124G>C (n.469-124G>C)
c.504G>C (p.Val168=)
c.873G>C (p.Val291=)
c.*13G>C (n.*13G>C)
c.696G>C (p.Val232=)
c.693G>C (p.Val231=)
11g.67490873G>TCA475509558AIPc.1180G>T
c.684G>T (p.Val228=)
n.1715G>T
c.469-124G>T (n.469-124G>T)
c.504G>T (p.Val168=)
c.873G>T (p.Val291=)
c.*13G>T (n.*13G>T)
c.696G>T (p.Val232=)
c.693G>T (p.Val231=)
11g.67490874delCA2697548772AIPc.1181del
c.685del (p.Leu229TrpfsTer11)
n.1716del
c.469-123del (n.469-123del)
c.505del (p.Leu169TrpfsTer11)
c.874del (p.Leu292TrpfsTer11)
c.*14del (n.*14del)
c.697del (p.Leu233TrpfsTer11)
c.694del (p.Leu232TrpfsTer11)
c.685del (p.Leu229TrpfsTer?)
 ClinVar
11g.67490874C>ACA381555046AIPc.1181C>A
c.685C>A (p.Leu229Met)
n.1716C>A
c.469-123C>A (n.469-123C>A)
c.505C>A (p.Leu169Met)
c.874C>A (p.Leu292Met)
c.*14C>A (n.*14C>A)
c.697C>A (p.Leu233Met)
c.694C>A (p.Leu232Met)
11g.67490874C=CA1980172676AIPc.1181C=
c.685C= (p.Leu229=)
n.1716C=
c.469-123C= (n.469-123C=)
c.505C= (p.Leu169=)
c.874C= (p.Leu292=)
c.*14C= (n.*14C=)
c.697C= (p.Leu233=)
c.694C= (p.Leu232=)
11g.67490874C>GCA6140994AIPc.1181C>G
c.685C>G (p.Leu229Val)
n.1716C>G
c.469-123C>G (n.469-123C>G)
c.505C>G (p.Leu169Val)
c.874C>G (p.Leu292Val)
c.*14C>G (n.*14C>G)
c.697C>G (p.Leu233Val)
c.694C>G (p.Leu232Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.67490874C>TCA475509561AIPc.1181C>T
c.685C>T (p.Leu229=)
n.1716C>T
c.469-123C>T (n.469-123C>T)
c.505C>T (p.Leu169=)
c.874C>T (p.Leu292=)
c.*14C>T (n.*14C>T)
c.697C>T (p.Leu233=)
c.694C>T (p.Leu232=)
11g.67490875T>ACA381555054AIPc.1182T>A
c.686T>A (p.Leu229Gln)
n.1717T>A
c.469-122T>A (n.469-122T>A)
c.506T>A (p.Leu169Gln)
c.875T>A (p.Leu292Gln)
c.*15T>A (n.*15T>A)
c.698T>A (p.Leu233Gln)
c.695T>A (p.Leu232Gln)
11g.67490875T>CCA381555056AIPc.1182T>C
c.686T>C (p.Leu229Pro)
n.1717T>C
c.469-122T>C (n.469-122T>C)
c.506T>C (p.Leu169Pro)
c.875T>C (p.Leu292Pro)
c.*15T>C (n.*15T>C)
c.698T>C (p.Leu233Pro)
c.695T>C (p.Leu232Pro)
11g.67490875T>GCA381555060AIPc.1182T>G
c.686T>G (p.Leu229Arg)
n.1717T>G
c.469-122T>G (n.469-122T>G)
c.506T>G (p.Leu169Arg)
c.875T>G (p.Leu292Arg)
c.*15T>G (n.*15T>G)
c.698T>G (p.Leu233Arg)
c.695T>G (p.Leu232Arg)
11g.67490876G>ACA475509562AIPc.1183G>A
c.687G>A (p.Leu229=)
n.1718G>A
c.469-121G>A (n.469-121G>A)
c.507G>A (p.Leu169=)
c.876G>A (p.Leu292=)
c.*16G>A (n.*16G>A)
c.699G>A (p.Leu233=)
c.696G>A (p.Leu232=)
11g.67490876G>CCA475509563AIPc.1183G>C
c.687G>C (p.Leu229=)
n.1718G>C
c.469-121G>C (n.469-121G>C)
c.507G>C (p.Leu169=)
c.876G>C (p.Leu292=)
c.*16G>C (n.*16G>C)
c.699G>C (p.Leu233=)
c.696G>C (p.Leu232=)
11g.67490876G>TCA475509565AIPc.1183G>T
c.687G>T (p.Leu229=)
n.1718G>T
c.469-121G>T (n.469-121G>T)
c.507G>T (p.Leu169=)
c.876G>T (p.Leu292=)
c.*16G>T (n.*16G>T)
c.699G>T (p.Leu233=)
c.696G>T (p.Leu232=)

Number of alleles fetched