Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.114402693delCA2691343728WHRNc.1129del (n.1129del)
c.*61del (n.*61del)
c.1758del
n.2666del
gnomAD v4
9g.114402693C=CA1873825289WHRNc.1129G= (n.1129G=)
c.*61G= (n.*61G=)
c.1758G=
n.2666G=
9g.114402693C>TCA198648722WHRNc.1129G>A (n.1129G>A)
c.*61G>A (n.*61G>A)
c.1758G>A
n.2666G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114402694G>ACA858984611WHRNc.1128C>T (n.1128C>T)
c.*60C>T (n.*60C>T)
c.1757C>T
n.2665C>T
dbSNP gnomAD v4
9g.114402694G=CA1873825290WHRNc.1128C= (n.1128C=)
c.*60C= (n.*60C=)
c.1757C=
n.2665C=
9g.114402694G>TCA2691343735WHRNc.1128C>A (n.1128C>A)
c.*60C>A (n.*60C>A)
c.1757C>A
n.2665C>A
gnomAD v4
9g.114402695G>ACA590141123WHRNc.1127C>T (n.1127C>T)
c.*59C>T (n.*59C>T)
c.1756C>T
n.2664C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114402695G>CCA1873825292WHRNc.1127C>G (n.1127C>G)
c.*59C>G (n.*59C>G)
c.1756C>G
n.2664C>G
dbSNP
9g.114402695G=CA1873825291WHRNc.1127C= (n.1127C=)
c.*59C= (n.*59C=)
c.1756C=
n.2664C=
9g.114402695G>TCA2691343737WHRNc.1127C>A (n.1127C>A)
c.*59C>A (n.*59C>A)
c.1756C>A
n.2664C>A
gnomAD v4
9g.114402698G>CCA2691343741WHRNc.1124C>G (n.1124C>G)
c.*56C>G (n.*56C>G)
c.1753C>G
n.2661C>G
gnomAD v4
9g.114402699A>GCA2691343744WHRNc.1123T>C (n.1123T>C)
c.*55T>C (n.*55T>C)
c.1752T>C
n.2660T>C
gnomAD v4
9g.114402701A=CA1873825293WHRNc.1121T= (n.1121T=)
c.*53T= (n.*53T=)
c.1750T=
n.2658T=
9g.114402701A>GCA2691343748WHRNc.1121T>C (n.1121T>C)
c.*53T>C (n.*53T>C)
c.1750T>C
n.2658T>C
gnomAD v4
9g.114402701A>TCA590141124WHRNc.1121T>A (n.1121T>A)
c.*53T>A (n.*53T>A)
c.1750T>A
n.2658T>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114402705_114402717dupCA2691343746WHRNc.1109_1121dup (n.1109_1121dup)
c.*41_*53dup (n.*41_*53dup)
c.1738_1750dup
n.2646_2658dup
gnomAD v4
9g.114402702G>ACA2691343752WHRNc.1120C>T (n.1120C>T)
c.*52C>T (n.*52C>T)
c.1749C>T
n.2657C>T
gnomAD v4
9g.114402702G>TCA2691343753WHRNc.1120C>A (n.1120C>A)
c.*52C>A (n.*52C>A)
c.1749C>A
n.2657C>A
gnomAD v4
9g.114402703G>ACA5205538WHRNc.1119C>T (n.1119C>T)
c.*51C>T (n.*51C>T)
c.1748C>T
n.2656C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402703G=CA1873825294WHRNc.1119C= (n.1119C=)
c.*51C= (n.*51C=)
c.1748C=
n.2656C=
9g.114402704G>ACA2691343759WHRNc.1118C>T (n.1118C>T)
c.*50C>T (n.*50C>T)
c.1747C>T
n.2655C>T
gnomAD v4
9g.114402704G>TCA2691343761WHRNc.1118C>A (n.1118C>A)
c.*50C>A (n.*50C>A)
c.1747C>A
n.2655C>A
gnomAD v4
9g.114402707T>GCA2691343762WHRNc.1115A>C (n.1115A>C)
c.*47A>C (n.*47A>C)
c.1744A>C
n.2652A>C
gnomAD v4
9g.114402708G>TCA2691343763WHRNc.1114C>A (n.1114C>A)
c.*46C>A (n.*46C>A)
c.1743C>A
n.2651C>A
gnomAD v4
9g.114402710G>ACA2691343766WHRNc.1112C>T (n.1112C>T)
c.*44C>T (n.*44C>T)
c.1741C>T
n.2649C>T
gnomAD v4
9g.114402710G>TCA2691343767WHRNc.1112C>A (n.1112C>A)
c.*44C>A (n.*44C>A)
c.1741C>A
n.2649C>A
gnomAD v4
9g.114402711A=CA1873825295WHRNc.1111T= (n.1111T=)
c.*43T= (n.*43T=)
c.1740T=
n.2648T=
9g.114402711A>GCA5205539WHRNc.1111T>C (n.1111T>C)
c.*43T>C (n.*43T>C)
c.1740T>C
n.2648T>C
dbSNP ExAC gnomAD v2 gnomAD v4
9g.114402711_114402712delinsACCA1873825296WHRNc.1110_1111delinsGT (n.1110_1111delinsGT)
c.*42_*43delinsGT (n.*42_*43delinsGT)
c.1739_1740delinsGT
n.2647_2648delinsGT
9g.114402713delCA1873825297WHRNc.1110del (n.1110del)
c.*42del (n.*42del)
c.1739del
n.2647del
dbSNP
9g.114402713C=CA1873825298WHRNc.1109G= (n.1109G=)
c.*41G= (n.*41G=)
c.1738G=
n.2646G=
9g.114402713C>TCA466781760WHRNc.1109G>A (n.1109G>A)
c.*41G>A (n.*41G>A)
c.1738G>A
n.2646G>A
dbSNP gnomAD v2 gnomAD v4
9g.114402714A=CA1873825299WHRNc.1108T= (n.1108T=)
c.*40T= (n.*40T=)
c.1737T=
n.2645T=
9g.114402714A>GCA858984632WHRNc.1108T>C (n.1108T>C)
c.*40T>C (n.*40T>C)
c.1737T>C
n.2645T>C
dbSNP
9g.114402715G>ACA1873825301WHRNc.1107C>T (n.1107C>T)
c.*39C>T (n.*39C>T)
c.1736C>T
n.2644C>T
dbSNP
9g.114402715G>CCA2691343781WHRNc.1107C>G (n.1107C>G)
c.*39C>G (n.*39C>G)
c.1736C>G
n.2644C>G
gnomAD v4
9g.114402715G=CA1873825300WHRNc.1107C= (n.1107C=)
c.*39C= (n.*39C=)
c.1736C=
n.2644C=
9g.114402716G>ACA5205540WHRNc.1106C>T (n.1106C>T)
c.*38C>T (n.*38C>T)
c.1735C>T
n.2643C>T
dbSNP ExAC gnomAD v2 gnomAD v4
9g.114402716G=CA1873825302WHRNc.1106C= (n.1106C=)
c.*38C= (n.*38C=)
c.1735C=
n.2643C=
9g.114402717G>ACA1873825304WHRNc.1105C>T (n.1105C>T)
c.*37C>T (n.*37C>T)
c.1734C>T
n.2642C>T
dbSNP gnomAD v4
9g.114402717G>CCA5205541WHRNc.1105C>G (n.1105C>G)
c.*37C>G (n.*37C>G)
c.1734C>G
n.2642C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402717G=CA1873825303WHRNc.1105C= (n.1105C=)
c.*37C= (n.*37C=)
c.1734C=
n.2642C=
9g.114402718G>ACA2579434549WHRNc.1104C>T (n.1104C>T)
c.*36C>T (n.*36C>T)
c.1733C>T
n.2641C>T
9g.114402718G>TCA2691343790WHRNc.1104C>A (n.1104C>A)
c.*36C>A (n.*36C>A)
c.1733C>A
n.2641C>A
gnomAD v4
9g.114402719C>ACA2691343793WHRNc.1103G>T (n.1103G>T)
c.*35G>T (n.*35G>T)
c.1732G>T
n.2640G>T
gnomAD v4
9g.114402721G>ACA5205542WHRNc.1101C>T (n.1101C>T)
c.*33C>T (n.*33C>T)
c.1730C>T
n.2638C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402721G=CA1873825305WHRNc.1101C= (n.1101C=)
c.*33C= (n.*33C=)
c.1730C=
n.2638C=
9g.114402723delCA2691343795WHRNc.1101del (n.1101del)
c.*33del (n.*33del)
c.1730del
n.2638del
gnomAD v4
9g.114402723G>ACA2579434550WHRNc.1099C>T (n.1099C>T)
c.*31C>T (n.*31C>T)
c.1728C>T
n.2636C>T
9g.114402724C>ACA5205543WHRNc.1098G>T (n.1098G>T)
c.*30G>T (n.*30G>T)
c.1727G>T
n.2635G>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402724C=CA1873825306WHRNc.1098G= (n.1098G=)
c.*30G= (n.*30G=)
c.1727G=
n.2635G=
9g.114402724C>TCA590141130WHRNc.1098G>A (n.1098G>A)
c.*30G>A (n.*30G>A)
c.1727G>A
n.2635G>A
dbSNP gnomAD v2 gnomAD v4
9g.114402725A=CA1873825307WHRNc.1097T= (n.1097T=)
c.*29T= (n.*29T=)
c.1726T=
n.2634T=
9g.114402725A>CCA5205544WHRNc.1097T>G (n.1097T>G)
c.*29T>G (n.*29T>G)
c.1726T>G
n.2634T>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.114402728G>ACA1128339342WHRNc.1094C>T (n.1094C>T)
c.*26C>T (n.*26C>T)
c.1723C>T
n.2631C>T
dbSNP gnomAD v3 gnomAD v4
9g.114402728G=CA1873825308WHRNc.1094C= (n.1094C=)
c.*26C= (n.*26C=)
c.1723C=
n.2631C=
9g.114402730T>ACA2691343806WHRNc.1092A>T (n.1092A>T)
c.*24A>T (n.*24A>T)
c.1721A>T
n.2629A>T
gnomAD v4
9g.114402733G>ACA590141133WHRNc.1089C>T (n.1089C>T)
c.*21C>T (n.*21C>T)
c.1718C>T
n.2626C>T
dbSNP gnomAD v2 gnomAD v4
9g.114402733G=CA1873825309WHRNc.1089C= (n.1089C=)
c.*21C= (n.*21C=)
c.1718C=
n.2626C=
9g.114402734A>TCA2691343812WHRNc.1088T>A (n.1088T>A)
c.*20T>A (n.*20T>A)
c.1717T>A
n.2625T>A
gnomAD v4
9g.114402735G>ACA590141136WHRNc.1087C>T (n.1087C>T)
c.*19C>T (n.*19C>T)
c.1716C>T
n.2624C>T
dbSNP gnomAD v2 gnomAD v4
9g.114402735G=CA1873825310WHRNc.1087C= (n.1087C=)
c.*19C= (n.*19C=)
c.1716C=
n.2624C=
9g.114402736G>ACA2579434551WHRNc.1086C>T (n.1086C>T)
c.*18C>T (n.*18C>T)
c.1715C>T
n.2623C>T
9g.114402737C>TCA2691343818WHRNc.1085G>A (n.1085G>A)
c.*17G>A (n.*17G>A)
c.1714G>A
n.2622G>A
gnomAD v4
9g.114402738C=CA1873825311WHRNc.1084G= (n.1084G=)
c.*16G= (n.*16G=)
c.1713G=
n.2621G=
9g.114402738C>TCA590141138WHRNc.1084G>A (n.1084G>A)
c.*16G>A (n.*16G>A)
c.1713G>A
n.2621G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114402741C=CA1873825312WHRNc.1081G= (n.1081G=)
c.*13G= (n.*13G=)
c.1710G=
n.2618G=
9g.114402741C>TCA5205545WHRNc.1081G>A (n.1081G>A)
c.*13G>A (n.*13G>A)
c.1710G>A
n.2618G>A
dbSNP ExAC gnomAD v2 gnomAD v4
9g.114402743G>ACA198648730WHRNc.1079C>T (n.1079C>T)
c.*11C>T (n.*11C>T)
c.1708C>T
n.2616C>T
dbSNP
9g.114402743G=CA1873825313WHRNc.1079C= (n.1079C=)
c.*11C= (n.*11C=)
c.1708C=
n.2616C=
9g.114402745C=CA1873825314WHRNc.1077G= (n.1077G=)
c.*9G= (n.*9G=)
c.1706G=
n.2614G=
9g.114402745C>TCA5205546WHRNc.1077G>A (n.1077G>A)
c.*9G>A (n.*9G>A)
c.1706G>A
n.2614G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402748T>CCA2691343827WHRNc.1074A>G (n.1074A>G)
c.*6A>G (n.*6A>G)
c.1703A>G
n.2611A>G
gnomAD v4
9g.114402749_114402754dupCA2579434552WHRNc.1068_1073dup (n.1068_1073dup)
c.2724_*5dup (n.2724_*5dup)
c.1697_1702dup
n.2605_2610dup
c.1575_*5dup (n.1575_*5dup)
c.1671_*5dup (n.1671_*5dup)
c.2721_*5dup (n.2721_*5dup)
c.2061_*5dup (n.2061_*5dup)
c.2757_*5dup (n.2757_*5dup)
c.2754_*5dup (n.2754_*5dup)
c.2631_*5dup (n.2631_*5dup)
c.2514_*5dup (n.2514_*5dup)
c.1434_*5dup (n.1434_*5dup)
9g.114402750G=CA1873825315WHRNc.1072C= (n.1072C=)
c.*4C= (n.*4C=)
c.1701C=
n.2609C=
9g.114402750G>TCA590141140WHRNc.1072C>A (n.1072C>A)
c.*4C>A (n.*4C>A)
c.1701C>A
n.2609C>A
dbSNP gnomAD v2 gnomAD v4
9g.114402751C>ACA590141141WHRNc.1071G>T (n.1071G>T)
c.*3G>T (n.*3G>T)
c.1700G>T
n.2608G>T
dbSNP gnomAD v2 gnomAD v4
9g.114402751C=CA1873825316WHRNc.1071G= (n.1071G=)
c.*3G= (n.*3G=)
c.1700G=
n.2608G=
9g.114402751C>TCA858984685WHRNc.1071G>A (n.1071G>A)
c.*3G>A (n.*3G>A)
c.1700G>A
n.2608G>A
dbSNP
9g.114402752C=CA1873825317WHRNc.1070G= (n.1070G=)
c.*2G= (n.*2G=)
c.1699G=
n.2607G=
9g.114402752C>TCA5205547WHRNc.1070G>A (n.1070G>A)
c.*2G>A (n.*2G>A)
c.1699G>A
n.2607G>A
dbSNP ExAC gnomAD v2 gnomAD v4
9g.114402753T>GCA590141143WHRNc.1069A>C (n.1069A>C)
c.*1A>C (n.*1A>C)
c.1698A>C
n.2606A>C
dbSNP gnomAD v2 gnomAD v4
9g.114402753T=CA1873825318WHRNc.1069A= (n.1069A=)
c.*1A= (n.*1A=)
c.1698A=
n.2606A=
9g.114402754C>ACA374618722WHRNc.1068G>T (p.Ter356Tyr)
c.2724G>T (p.Ter908Tyr)
c.1697G>T
n.2605G>T
c.1575G>T (p.Ter525Tyr)
c.1671G>T (p.Ter557Tyr)
c.2721G>T (p.Ter907Tyr)
c.2061G>T (p.Ter687Tyr)
c.2757G>T (p.Ter919Tyr)
c.2754G>T (p.Ter918Tyr)
c.2631G>T (p.Ter877Tyr)
c.2514G>T (p.Ter838Tyr)
c.1434G>T (p.Ter478Tyr)
9g.114402754C>GCA374618721WHRNc.1068G>C (p.Ter356Tyr)
c.2724G>C (p.Ter908Tyr)
c.1697G>C
n.2605G>C
c.1575G>C (p.Ter525Tyr)
c.1671G>C (p.Ter557Tyr)
c.2721G>C (p.Ter907Tyr)
c.2061G>C (p.Ter687Tyr)
c.2757G>C (p.Ter919Tyr)
c.2754G>C (p.Ter918Tyr)
c.2631G>C (p.Ter877Tyr)
c.2514G>C (p.Ter838Tyr)
c.1434G>C (p.Ter478Tyr)
9g.114402754C>TCA466781762WHRNc.1068G>A (p.Ter356=)
c.2724G>A (p.Ter908=)
c.1697G>A
n.2605G>A
c.1575G>A (p.Ter525=)
c.1671G>A (p.Ter557=)
c.2721G>A (p.Ter907=)
c.2061G>A (p.Ter687=)
c.2757G>A (p.Ter919=)
c.2754G>A (p.Ter918=)
c.2631G>A (p.Ter877=)
c.2514G>A (p.Ter838=)
c.1434G>A (p.Ter478=)
gnomAD v4
9g.114402755T>ACA374618723WHRNc.1067A>T (p.Ter356Leu)
c.2723A>T (p.Ter908Leu)
c.1696A>T
n.2604A>T
c.1574A>T (p.Ter525Leu)
c.1670A>T (p.Ter557Leu)
c.2720A>T (p.Ter907Leu)
c.2060A>T (p.Ter687Leu)
c.2756A>T (p.Ter919Leu)
c.2753A>T (p.Ter918Leu)
c.2630A>T (p.Ter877Leu)
c.2513A>T (p.Ter838Leu)
c.1433A>T (p.Ter478Leu)
9g.114402755T>CCA198648734WHRNc.1067A>G (p.Ter356Trp)
c.2723A>G (p.Ter908Trp)
c.1696A>G
n.2604A>G
c.1574A>G (p.Ter525Trp)
c.1670A>G (p.Ter557Trp)
c.2720A>G (p.Ter907Trp)
c.2060A>G (p.Ter687Trp)
c.2756A>G (p.Ter919Trp)
c.2753A>G (p.Ter918Trp)
c.2630A>G (p.Ter877Trp)
c.2513A>G (p.Ter838Trp)
c.1433A>G (p.Ter478Trp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114402755T>GCA374618724WHRNc.1067A>C (p.Ter356Ser)
c.2723A>C (p.Ter908Ser)
c.1696A>C
n.2604A>C
c.1574A>C (p.Ter525Ser)
c.1670A>C (p.Ter557Ser)
c.2720A>C (p.Ter907Ser)
c.2060A>C (p.Ter687Ser)
c.2756A>C (p.Ter919Ser)
c.2753A>C (p.Ter918Ser)
c.2630A>C (p.Ter877Ser)
c.2513A>C (p.Ter838Ser)
c.1433A>C (p.Ter478Ser)
9g.114402755T=CA1873825319WHRNc.1067A= (p.Ter356=)
c.2723A= (p.Ter908=)
c.1696A=
n.2604A=
c.1574A= (p.Ter525=)
c.1670A= (p.Ter557=)
c.2720A= (p.Ter907=)
c.2060A= (p.Ter687=)
c.2756A= (p.Ter919=)
c.2753A= (p.Ter918=)
c.2630A= (p.Ter877=)
c.2513A= (p.Ter838=)
c.1433A= (p.Ter478=)
9g.114402756A=CA1873825320WHRNc.1066T= (p.Ter356=)
c.2722T= (p.Ter908=)
c.1695T=
n.2603T=
c.1573T= (p.Ter525=)
c.1669T= (p.Ter557=)
c.2719T= (p.Ter907=)
c.2059T= (p.Ter687=)
c.2755T= (p.Ter919=)
c.2752T= (p.Ter918=)
c.2629T= (p.Ter877=)
c.2512T= (p.Ter838=)
c.1432T= (p.Ter478=)
9g.114402756A>CCA374618725WHRNc.1066T>G (p.Ter356Glu)
c.2722T>G (p.Ter908Glu)
c.1695T>G
n.2603T>G
c.1573T>G (p.Ter525Glu)
c.1669T>G (p.Ter557Glu)
c.2719T>G (p.Ter907Glu)
c.2059T>G (p.Ter687Glu)
c.2755T>G (p.Ter919Glu)
c.2752T>G (p.Ter918Glu)
c.2629T>G (p.Ter877Glu)
c.2512T>G (p.Ter838Glu)
c.1432T>G (p.Ter478Glu)
9g.114402756A>GCA185551WHRNc.1066T>C (p.Ter356Gln)
c.2722T>C (p.Ter908Gln)
c.1695T>C
n.2603T>C
c.1573T>C (p.Ter525Gln)
c.1669T>C (p.Ter557Gln)
c.2719T>C (p.Ter907Gln)
c.2059T>C (p.Ter687Gln)
c.2755T>C (p.Ter919Gln)
c.2752T>C (p.Ter918Gln)
c.2629T>C (p.Ter877Gln)
c.2512T>C (p.Ter838Gln)
c.1432T>C (p.Ter478Gln)
ClinVar dbSNP gnomAD v4
9g.114402756A>TCA374618726WHRNc.1066T>A (p.Ter356Lys)
c.2722T>A (p.Ter908Lys)
c.1695T>A
n.2603T>A
c.1573T>A (p.Ter525Lys)
c.1669T>A (p.Ter557Lys)
c.2719T>A (p.Ter907Lys)
c.2059T>A (p.Ter687Lys)
c.2755T>A (p.Ter919Lys)
c.2752T>A (p.Ter918Lys)
c.2629T>A (p.Ter877Lys)
c.2512T>A (p.Ter838Lys)
c.1432T>A (p.Ter478Lys)
9g.114402757G>ACA466781765WHRNc.1065C>T (p.Leu355=)
c.2721C>T (p.Leu907=)
c.1694C>T
n.2602C>T
c.1572C>T (p.Leu524=)
c.1668C>T (p.Leu556=)
c.2718C>T (p.Leu906=)
c.2058C>T (p.Leu686=)
c.2754C>T (p.Leu918=)
c.2751C>T (p.Leu917=)
c.2628C>T (p.Leu876=)
c.2511C>T (p.Leu837=)
c.1431C>T (p.Leu477=)
9g.114402757G>CCA466781763WHRNc.1065C>G (p.Leu355=)
c.2721C>G (p.Leu907=)
c.1694C>G
n.2602C>G
c.1572C>G (p.Leu524=)
c.1668C>G (p.Leu556=)
c.2718C>G (p.Leu906=)
c.2058C>G (p.Leu686=)
c.2754C>G (p.Leu918=)
c.2751C>G (p.Leu917=)
c.2628C>G (p.Leu876=)
c.2511C>G (p.Leu837=)
c.1431C>G (p.Leu477=)
dbSNP
9g.114402757G=CA1873825321WHRNc.1065C= (p.Leu355=)
c.2721C= (p.Leu907=)
c.1694C=
n.2602C=
c.1572C= (p.Leu524=)
c.1668C= (p.Leu556=)
c.2718C= (p.Leu906=)
c.2058C= (p.Leu686=)
c.2754C= (p.Leu918=)
c.2751C= (p.Leu917=)
c.2628C= (p.Leu876=)
c.2511C= (p.Leu837=)
c.1431C= (p.Leu477=)
9g.114402757G>TCA466781764WHRNc.1065C>A (p.Leu355=)
c.2721C>A (p.Leu907=)
c.1694C>A
n.2602C>A
c.1572C>A (p.Leu524=)
c.1668C>A (p.Leu556=)
c.2718C>A (p.Leu906=)
c.2058C>A (p.Leu686=)
c.2754C>A (p.Leu918=)
c.2751C>A (p.Leu917=)
c.2628C>A (p.Leu876=)
c.2511C>A (p.Leu837=)
c.1431C>A (p.Leu477=)
9g.114402758A>CCA374618727WHRNc.1064T>G (p.Leu355Arg)
c.2720T>G (p.Leu907Arg)
c.1693T>G
n.2601T>G
c.1571T>G (p.Leu524Arg)
c.1667T>G (p.Leu556Arg)
c.2717T>G (p.Leu906Arg)
c.2057T>G (p.Leu686Arg)
c.2753T>G (p.Leu918Arg)
c.2750T>G (p.Leu917Arg)
c.2627T>G (p.Leu876Arg)
c.2510T>G (p.Leu837Arg)
c.1430T>G (p.Leu477Arg)
9g.114402758A>GCA374618728WHRNc.1064T>C (p.Leu355Pro)
c.2720T>C (p.Leu907Pro)
c.1693T>C
n.2601T>C
c.1571T>C (p.Leu524Pro)
c.1667T>C (p.Leu556Pro)
c.2717T>C (p.Leu906Pro)
c.2057T>C (p.Leu686Pro)
c.2753T>C (p.Leu918Pro)
c.2750T>C (p.Leu917Pro)
c.2627T>C (p.Leu876Pro)
c.2510T>C (p.Leu837Pro)
c.1430T>C (p.Leu477Pro)
gnomAD v4
9g.114402758A>TCA374618729WHRNc.1064T>A (p.Leu355His)
c.2720T>A (p.Leu907His)
c.1693T>A
n.2601T>A
c.1571T>A (p.Leu524His)
c.1667T>A (p.Leu556His)
c.2717T>A (p.Leu906His)
c.2057T>A (p.Leu686His)
c.2753T>A (p.Leu918His)
c.2750T>A (p.Leu917His)
c.2627T>A (p.Leu876His)
c.2510T>A (p.Leu837His)
c.1430T>A (p.Leu477His)
9g.114402759G>ACA374618730WHRNc.1063C>T (p.Leu355Phe)
c.2719C>T (p.Leu907Phe)
c.1692C>T
n.2600C>T
c.1570C>T (p.Leu524Phe)
c.1666C>T (p.Leu556Phe)
c.2716C>T (p.Leu906Phe)
c.2056C>T (p.Leu686Phe)
c.2752C>T (p.Leu918Phe)
c.2749C>T (p.Leu917Phe)
c.2626C>T (p.Leu876Phe)
c.2509C>T (p.Leu837Phe)
c.1429C>T (p.Leu477Phe)
gnomAD v4
9g.114402759G>CCA374618731WHRNc.1063C>G (p.Leu355Val)
c.2719C>G (p.Leu907Val)
c.1692C>G
n.2600C>G
c.1570C>G (p.Leu524Val)
c.1666C>G (p.Leu556Val)
c.2716C>G (p.Leu906Val)
c.2056C>G (p.Leu686Val)
c.2752C>G (p.Leu918Val)
c.2749C>G (p.Leu917Val)
c.2626C>G (p.Leu876Val)
c.2509C>G (p.Leu837Val)
c.1429C>G (p.Leu477Val)
9g.114402759G=CA1873825322WHRNc.1063C= (p.Leu355=)
c.2719C= (p.Leu907=)
c.1692C=
n.2600C=
c.1570C= (p.Leu524=)
c.1666C= (p.Leu556=)
c.2716C= (p.Leu906=)
c.2056C= (p.Leu686=)
c.2752C= (p.Leu918=)
c.2749C= (p.Leu917=)
c.2626C= (p.Leu876=)
c.2509C= (p.Leu837=)
c.1429C= (p.Leu477=)
9g.114402759G>TCA374618732WHRNc.1063C>A (p.Leu355Ile)
c.2719C>A (p.Leu907Ile)
c.1692C>A
n.2600C>A
c.1570C>A (p.Leu524Ile)
c.1666C>A (p.Leu556Ile)
c.2716C>A (p.Leu906Ile)
c.2056C>A (p.Leu686Ile)
c.2752C>A (p.Leu918Ile)
c.2749C>A (p.Leu917Ile)
c.2626C>A (p.Leu876Ile)
c.2509C>A (p.Leu837Ile)
c.1429C>A (p.Leu477Ile)
dbSNP gnomAD v2 gnomAD v4
9g.114402760C>ACA374618734WHRNc.1062G>T (p.Met354Ile)
c.2718G>T (p.Met906Ile)
c.1691G>T
n.2599G>T
c.1569G>T (p.Met523Ile)
c.1665G>T (p.Met555Ile)
c.2715G>T (p.Met905Ile)
c.2055G>T (p.Met685Ile)
c.2751G>T (p.Met917Ile)
c.2748G>T (p.Met916Ile)
c.2625G>T (p.Met875Ile)
c.2508G>T (p.Met836Ile)
c.1428G>T (p.Met476Ile)
9g.114402760C=CA1873825323WHRNc.1062G= (p.Met354=)
c.2718G= (p.Met906=)
c.1691G=
n.2599G=
c.1569G= (p.Met523=)
c.1665G= (p.Met555=)
c.2715G= (p.Met905=)
c.2055G= (p.Met685=)
c.2751G= (p.Met917=)
c.2748G= (p.Met916=)
c.2625G= (p.Met875=)
c.2508G= (p.Met836=)
c.1428G= (p.Met476=)
9g.114402760C>GCA374618733WHRNc.1062G>C (p.Met354Ile)
c.2718G>C (p.Met906Ile)
c.1691G>C
n.2599G>C
c.1569G>C (p.Met523Ile)
c.1665G>C (p.Met555Ile)
c.2715G>C (p.Met905Ile)
c.2055G>C (p.Met685Ile)
c.2751G>C (p.Met917Ile)
c.2748G>C (p.Met916Ile)
c.2625G>C (p.Met875Ile)
c.2508G>C (p.Met836Ile)
c.1428G>C (p.Met476Ile)
9g.114402760C>TCA5205548WHRNc.1062G>A (p.Met354Ile)
c.2718G>A (p.Met906Ile)
c.1691G>A
n.2599G>A
c.1569G>A (p.Met523Ile)
c.1665G>A (p.Met555Ile)
c.2715G>A (p.Met905Ile)
c.2055G>A (p.Met685Ile)
c.2751G>A (p.Met917Ile)
c.2748G>A (p.Met916Ile)
c.2625G>A (p.Met875Ile)
c.2508G>A (p.Met836Ile)
c.1428G>A (p.Met476Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.114402761A>CCA374618735WHRNc.1061T>G (p.Met354Arg)
c.2717T>G (p.Met906Arg)
c.1690T>G
n.2598T>G
c.1568T>G (p.Met523Arg)
c.1664T>G (p.Met555Arg)
c.2714T>G (p.Met905Arg)
c.2054T>G (p.Met685Arg)
c.2750T>G (p.Met917Arg)
c.2747T>G (p.Met916Arg)
c.2624T>G (p.Met875Arg)
c.2507T>G (p.Met836Arg)
c.1427T>G (p.Met476Arg)
9g.114402761A>GCA374618737WHRNc.1061T>C (p.Met354Thr)
c.2717T>C (p.Met906Thr)
c.1690T>C
n.2598T>C
c.1568T>C (p.Met523Thr)
c.1664T>C (p.Met555Thr)
c.2714T>C (p.Met905Thr)
c.2054T>C (p.Met685Thr)
c.2750T>C (p.Met917Thr)
c.2747T>C (p.Met916Thr)
c.2624T>C (p.Met875Thr)
c.2507T>C (p.Met836Thr)
c.1427T>C (p.Met476Thr)
9g.114402761A>TCA374618736WHRNc.1061T>A (p.Met354Lys)
c.2717T>A (p.Met906Lys)
c.1690T>A
n.2598T>A
c.1568T>A (p.Met523Lys)
c.1664T>A (p.Met555Lys)
c.2714T>A (p.Met905Lys)
c.2054T>A (p.Met685Lys)
c.2750T>A (p.Met917Lys)
c.2747T>A (p.Met916Lys)
c.2624T>A (p.Met875Lys)
c.2507T>A (p.Met836Lys)
c.1427T>A (p.Met476Lys)
9g.114402762T>ACA374618738WHRNc.1060A>T (p.Met354Leu)
c.2716A>T (p.Met906Leu)
c.1689A>T
n.2597A>T
c.1567A>T (p.Met523Leu)
c.1663A>T (p.Met555Leu)
c.2713A>T (p.Met905Leu)
c.2053A>T (p.Met685Leu)
c.2749A>T (p.Met917Leu)
c.2746A>T (p.Met916Leu)
c.2623A>T (p.Met875Leu)
c.2506A>T (p.Met836Leu)
c.1426A>T (p.Met476Leu)
9g.114402762T>CCA374618739WHRNc.1060A>G (p.Met354Val)
c.2716A>G (p.Met906Val)
c.1689A>G
n.2597A>G
c.1567A>G (p.Met523Val)
c.1663A>G (p.Met555Val)
c.2713A>G (p.Met905Val)
c.2053A>G (p.Met685Val)
c.2749A>G (p.Met917Val)
c.2746A>G (p.Met916Val)
c.2623A>G (p.Met875Val)
c.2506A>G (p.Met836Val)
c.1426A>G (p.Met476Val)
9g.114402762T>GCA374618740WHRNc.1060A>C (p.Met354Leu)
c.2716A>C (p.Met906Leu)
c.1689A>C
n.2597A>C
c.1567A>C (p.Met523Leu)
c.1663A>C (p.Met555Leu)
c.2713A>C (p.Met905Leu)
c.2053A>C (p.Met685Leu)
c.2749A>C (p.Met917Leu)
c.2746A>C (p.Met916Leu)
c.2623A>C (p.Met875Leu)
c.2506A>C (p.Met836Leu)
c.1426A>C (p.Met476Leu)
9g.114402763C>ACA466781768WHRNc.1059G>T (p.Val353=)
c.2715G>T (p.Val905=)
c.1688G>T
n.2596G>T
c.1566G>T (p.Val522=)
c.1662G>T (p.Val554=)
c.2712G>T (p.Val904=)
c.2052G>T (p.Val684=)
c.2748G>T (p.Val916=)
c.2745G>T (p.Val915=)
c.2622G>T (p.Val874=)
c.2505G>T (p.Val835=)
c.1425G>T (p.Val475=)
9g.114402763C>GCA466781767WHRNc.1059G>C (p.Val353=)
c.2715G>C (p.Val905=)
c.1688G>C
n.2596G>C
c.1566G>C (p.Val522=)
c.1662G>C (p.Val554=)
c.2712G>C (p.Val904=)
c.2052G>C (p.Val684=)
c.2748G>C (p.Val916=)
c.2745G>C (p.Val915=)
c.2622G>C (p.Val874=)
c.2505G>C (p.Val835=)
c.1425G>C (p.Val475=)
9g.114402763C>TCA466781769WHRNc.1059G>A (p.Val353=)
c.2715G>A (p.Val905=)
c.1688G>A
n.2596G>A
c.1566G>A (p.Val522=)
c.1662G>A (p.Val554=)
c.2712G>A (p.Val904=)
c.2052G>A (p.Val684=)
c.2748G>A (p.Val916=)
c.2745G>A (p.Val915=)
c.2622G>A (p.Val874=)
c.2505G>A (p.Val835=)
c.1425G>A (p.Val475=)
9g.114402764A>CCA374618741WHRNc.1058T>G (p.Val353Gly)
c.2714T>G (p.Val905Gly)
c.1687T>G
n.2595T>G
c.1565T>G (p.Val522Gly)
c.1661T>G (p.Val554Gly)
c.2711T>G (p.Val904Gly)
c.2051T>G (p.Val684Gly)
c.2747T>G (p.Val916Gly)
c.2744T>G (p.Val915Gly)
c.2621T>G (p.Val874Gly)
c.2504T>G (p.Val835Gly)
c.1424T>G (p.Val475Gly)
9g.114402764A>GCA374618742WHRNc.1058T>C (p.Val353Ala)
c.2714T>C (p.Val905Ala)
c.1687T>C
n.2595T>C
c.1565T>C (p.Val522Ala)
c.1661T>C (p.Val554Ala)
c.2711T>C (p.Val904Ala)
c.2051T>C (p.Val684Ala)
c.2747T>C (p.Val916Ala)
c.2744T>C (p.Val915Ala)
c.2621T>C (p.Val874Ala)
c.2504T>C (p.Val835Ala)
c.1424T>C (p.Val475Ala)
9g.114402764A>TCA374618743WHRNc.1058T>A (p.Val353Glu)
c.2714T>A (p.Val905Glu)
c.1687T>A
n.2595T>A
c.1565T>A (p.Val522Glu)
c.1661T>A (p.Val554Glu)
c.2711T>A (p.Val904Glu)
c.2051T>A (p.Val684Glu)
c.2747T>A (p.Val916Glu)
c.2744T>A (p.Val915Glu)
c.2621T>A (p.Val874Glu)
c.2504T>A (p.Val835Glu)
c.1424T>A (p.Val475Glu)
9g.114402765C>ACA374618744WHRNc.1057G>T (p.Val353Leu)
c.2713G>T (p.Val905Leu)
c.1686G>T
n.2594G>T
c.1564G>T (p.Val522Leu)
c.1660G>T (p.Val554Leu)
c.2710G>T (p.Val904Leu)
c.2050G>T (p.Val684Leu)
c.2746G>T (p.Val916Leu)
c.2743G>T (p.Val915Leu)
c.2620G>T (p.Val874Leu)
c.2503G>T (p.Val835Leu)
c.1423G>T (p.Val475Leu)
9g.114402765C>GCA374618745WHRNc.1057G>C (p.Val353Leu)
c.2713G>C (p.Val905Leu)
c.1686G>C
n.2594G>C
c.1564G>C (p.Val522Leu)
c.1660G>C (p.Val554Leu)
c.2710G>C (p.Val904Leu)
c.2050G>C (p.Val684Leu)
c.2746G>C (p.Val916Leu)
c.2743G>C (p.Val915Leu)
c.2620G>C (p.Val874Leu)
c.2503G>C (p.Val835Leu)
c.1423G>C (p.Val475Leu)
9g.114402765C>TCA374618746WHRNc.1057G>A (p.Val353Met)
c.2713G>A (p.Val905Met)
c.1686G>A
n.2594G>A
c.1564G>A (p.Val522Met)
c.1660G>A (p.Val554Met)
c.2710G>A (p.Val904Met)
c.2050G>A (p.Val684Met)
c.2746G>A (p.Val916Met)
c.2743G>A (p.Val915Met)
c.2620G>A (p.Val874Met)
c.2503G>A (p.Val835Met)
c.1423G>A (p.Val475Met)
9g.114402766A>CCA374618747WHRNc.1056T>G (p.Asn352Lys)
c.2712T>G (p.Asn904Lys)
c.1685T>G
n.2593T>G
c.1563T>G (p.Asn521Lys)
c.1659T>G (p.Asn553Lys)
c.2709T>G (p.Asn903Lys)
c.2049T>G (p.Asn683Lys)
c.2745T>G (p.Asn915Lys)
c.2742T>G (p.Asn914Lys)
c.2619T>G (p.Asn873Lys)
c.2502T>G (p.Asn834Lys)
c.1422T>G (p.Asn474Lys)
9g.114402766A>GCA466781771WHRNc.1056T>C (p.Asn352=)
c.2712T>C (p.Asn904=)
c.1685T>C
n.2593T>C
c.1563T>C (p.Asn521=)
c.1659T>C (p.Asn553=)
c.2709T>C (p.Asn903=)
c.2049T>C (p.Asn683=)
c.2745T>C (p.Asn915=)
c.2742T>C (p.Asn914=)
c.2619T>C (p.Asn873=)
c.2502T>C (p.Asn834=)
c.1422T>C (p.Asn474=)
9g.114402766A>TCA374618748WHRNc.1056T>A (p.Asn352Lys)
c.2712T>A (p.Asn904Lys)
c.1685T>A
n.2593T>A
c.1563T>A (p.Asn521Lys)
c.1659T>A (p.Asn553Lys)
c.2709T>A (p.Asn903Lys)
c.2049T>A (p.Asn683Lys)
c.2745T>A (p.Asn915Lys)
c.2742T>A (p.Asn914Lys)
c.2619T>A (p.Asn873Lys)
c.2502T>A (p.Asn834Lys)
c.1422T>A (p.Asn474Lys)
9g.114402767T>ACA374618751WHRNc.1055A>T (p.Asn352Ile)
c.2711A>T (p.Asn904Ile)
c.1684A>T
n.2592A>T
c.1562A>T (p.Asn521Ile)
c.1658A>T (p.Asn553Ile)
c.2708A>T (p.Asn903Ile)
c.2048A>T (p.Asn683Ile)
c.2744A>T (p.Asn915Ile)
c.2741A>T (p.Asn914Ile)
c.2618A>T (p.Asn873Ile)
c.2501A>T (p.Asn834Ile)
c.1421A>T (p.Asn474Ile)
9g.114402767T>CCA374618749WHRNc.1055A>G (p.Asn352Ser)
c.2711A>G (p.Asn904Ser)
c.1684A>G
n.2592A>G
c.1562A>G (p.Asn521Ser)
c.1658A>G (p.Asn553Ser)
c.2708A>G (p.Asn903Ser)
c.2048A>G (p.Asn683Ser)
c.2744A>G (p.Asn915Ser)
c.2741A>G (p.Asn914Ser)
c.2618A>G (p.Asn873Ser)
c.2501A>G (p.Asn834Ser)
c.1421A>G (p.Asn474Ser)
gnomAD v4
9g.114402767T>GCA374618750WHRNc.1055A>C (p.Asn352Thr)
c.2711A>C (p.Asn904Thr)
c.1684A>C
n.2592A>C
c.1562A>C (p.Asn521Thr)
c.1658A>C (p.Asn553Thr)
c.2708A>C (p.Asn903Thr)
c.2048A>C (p.Asn683Thr)
c.2744A>C (p.Asn915Thr)
c.2741A>C (p.Asn914Thr)
c.2618A>C (p.Asn873Thr)
c.2501A>C (p.Asn834Thr)
c.1421A>C (p.Asn474Thr)
9g.114402768T>ACA374618752WHRNc.1054A>T (p.Asn352Tyr)
c.2710A>T (p.Asn904Tyr)
c.1683A>T
n.2591A>T
c.1561A>T (p.Asn521Tyr)
c.1657A>T (p.Asn553Tyr)
c.2707A>T (p.Asn903Tyr)
c.2047A>T (p.Asn683Tyr)
c.2743A>T (p.Asn915Tyr)
c.2740A>T (p.Asn914Tyr)
c.2617A>T (p.Asn873Tyr)
c.2500A>T (p.Asn834Tyr)
c.1420A>T (p.Asn474Tyr)
9g.114402768T>CCA374618753WHRNc.1054A>G (p.Asn352Asp)
c.2710A>G (p.Asn904Asp)
c.1683A>G
n.2591A>G
c.1561A>G (p.Asn521Asp)
c.1657A>G (p.Asn553Asp)
c.2707A>G (p.Asn903Asp)
c.2047A>G (p.Asn683Asp)
c.2743A>G (p.Asn915Asp)
c.2740A>G (p.Asn914Asp)
c.2617A>G (p.Asn873Asp)
c.2500A>G (p.Asn834Asp)
c.1420A>G (p.Asn474Asp)
9g.114402768T>GCA374618754WHRNc.1054A>C (p.Asn352His)
c.2710A>C (p.Asn904His)
c.1683A>C
n.2591A>C
c.1561A>C (p.Asn521His)
c.1657A>C (p.Asn553His)
c.2707A>C (p.Asn903His)
c.2047A>C (p.Asn683His)
c.2743A>C (p.Asn915His)
c.2740A>C (p.Asn914His)
c.2617A>C (p.Asn873His)
c.2500A>C (p.Asn834His)
c.1420A>C (p.Asn474His)
9g.114402769G>ACA466781772WHRNc.1053C>T (p.Phe351=)
c.2709C>T (p.Phe903=)
c.1682C>T
n.2590C>T
c.1560C>T (p.Phe520=)
c.1656C>T (p.Phe552=)
c.2706C>T (p.Phe902=)
c.2046C>T (p.Phe682=)
c.2742C>T (p.Phe914=)
c.2739C>T (p.Phe913=)
c.2616C>T (p.Phe872=)
c.2499C>T (p.Phe833=)
c.1419C>T (p.Phe473=)
9g.114402769G>CCA374618755WHRNc.1053C>G (p.Phe351Leu)
c.2709C>G (p.Phe903Leu)
c.1682C>G
n.2590C>G
c.1560C>G (p.Phe520Leu)
c.1656C>G (p.Phe552Leu)
c.2706C>G (p.Phe902Leu)
c.2046C>G (p.Phe682Leu)
c.2742C>G (p.Phe914Leu)
c.2739C>G (p.Phe913Leu)
c.2616C>G (p.Phe872Leu)
c.2499C>G (p.Phe833Leu)
c.1419C>G (p.Phe473Leu)
9g.114402769G>TCA374618756WHRNc.1053C>A (p.Phe351Leu)
c.2709C>A (p.Phe903Leu)
c.1682C>A
n.2590C>A
c.1560C>A (p.Phe520Leu)
c.1656C>A (p.Phe552Leu)
c.2706C>A (p.Phe902Leu)
c.2046C>A (p.Phe682Leu)
c.2742C>A (p.Phe914Leu)
c.2739C>A (p.Phe913Leu)
c.2616C>A (p.Phe872Leu)
c.2499C>A (p.Phe833Leu)
c.1419C>A (p.Phe473Leu)
9g.114402770A>CCA374618757WHRNc.1052T>G (p.Phe351Cys)
c.2708T>G (p.Phe903Cys)
c.1681T>G
n.2589T>G
c.1559T>G (p.Phe520Cys)
c.1655T>G (p.Phe552Cys)
c.2705T>G (p.Phe902Cys)
c.2045T>G (p.Phe682Cys)
c.2741T>G (p.Phe914Cys)
c.2738T>G (p.Phe913Cys)
c.2615T>G (p.Phe872Cys)
c.2498T>G (p.Phe833Cys)
c.1418T>G (p.Phe473Cys)
9g.114402770A>GCA374618758WHRNc.1052T>C (p.Phe351Ser)
c.2708T>C (p.Phe903Ser)
c.1681T>C
n.2589T>C
c.1559T>C (p.Phe520Ser)
c.1655T>C (p.Phe552Ser)
c.2705T>C (p.Phe902Ser)
c.2045T>C (p.Phe682Ser)
c.2741T>C (p.Phe914Ser)
c.2738T>C (p.Phe913Ser)
c.2615T>C (p.Phe872Ser)
c.2498T>C (p.Phe833Ser)
c.1418T>C (p.Phe473Ser)
9g.114402770A>TCA374618759WHRNc.1052T>A (p.Phe351Tyr)
c.2708T>A (p.Phe903Tyr)
c.1681T>A
n.2589T>A
c.1559T>A (p.Phe520Tyr)
c.1655T>A (p.Phe552Tyr)
c.2705T>A (p.Phe902Tyr)
c.2045T>A (p.Phe682Tyr)
c.2741T>A (p.Phe914Tyr)
c.2738T>A (p.Phe913Tyr)
c.2615T>A (p.Phe872Tyr)
c.2498T>A (p.Phe833Tyr)
c.1418T>A (p.Phe473Tyr)
9g.114402771A>CCA374618760WHRNc.1051T>G (p.Phe351Val)
c.2707T>G (p.Phe903Val)
c.1680T>G
n.2588T>G
c.1558T>G (p.Phe520Val)
c.1654T>G (p.Phe552Val)
c.2704T>G (p.Phe902Val)
c.2044T>G (p.Phe682Val)
c.2740T>G (p.Phe914Val)
c.2737T>G (p.Phe913Val)
c.2614T>G (p.Phe872Val)
c.2497T>G (p.Phe833Val)
c.1417T>G (p.Phe473Val)
9g.114402771A>GCA374618761WHRNc.1051T>C (p.Phe351Leu)
c.2707T>C (p.Phe903Leu)
c.1680T>C
n.2588T>C
c.1558T>C (p.Phe520Leu)
c.1654T>C (p.Phe552Leu)
c.2704T>C (p.Phe902Leu)
c.2044T>C (p.Phe682Leu)
c.2740T>C (p.Phe914Leu)
c.2737T>C (p.Phe913Leu)
c.2614T>C (p.Phe872Leu)
c.2497T>C (p.Phe833Leu)
c.1417T>C (p.Phe473Leu)
9g.114402771A>TCA374618762WHRNc.1051T>A (p.Phe351Ile)
c.2707T>A (p.Phe903Ile)
c.1680T>A
n.2588T>A
c.1558T>A (p.Phe520Ile)
c.1654T>A (p.Phe552Ile)
c.2704T>A (p.Phe902Ile)
c.2044T>A (p.Phe682Ile)
c.2740T>A (p.Phe914Ile)
c.2737T>A (p.Phe913Ile)
c.2614T>A (p.Phe872Ile)
c.2497T>A (p.Phe833Ile)
c.1417T>A (p.Phe473Ile)
9g.114402772C>ACA374618763WHRNc.1050G>T (p.Glu350Asp)
c.2706G>T (p.Glu902Asp)
c.1679G>T
n.2587G>T
c.1557G>T (p.Glu519Asp)
c.1653G>T (p.Glu551Asp)
c.2703G>T (p.Glu901Asp)
c.2043G>T (p.Glu681Asp)
c.2739G>T (p.Glu913Asp)
c.2736G>T (p.Glu912Asp)
c.2613G>T (p.Glu871Asp)
c.2496G>T (p.Glu832Asp)
c.1416G>T (p.Glu472Asp)
dbSNP gnomAD v2 gnomAD v4
9g.114402772C=CA1873825324WHRNc.1050G= (p.Glu350=)
c.2706G= (p.Glu902=)
c.1679G=
n.2587G=
c.1557G= (p.Glu519=)
c.1653G= (p.Glu551=)
c.2703G= (p.Glu901=)
c.2043G= (p.Glu681=)
c.2739G= (p.Glu913=)
c.2736G= (p.Glu912=)
c.2613G= (p.Glu871=)
c.2496G= (p.Glu832=)
c.1416G= (p.Glu472=)
9g.114402772C>GCA374618764WHRNc.1050G>C (p.Glu350Asp)
c.2706G>C (p.Glu902Asp)
c.1679G>C
n.2587G>C
c.1557G>C (p.Glu519Asp)
c.1653G>C (p.Glu551Asp)
c.2703G>C (p.Glu901Asp)
c.2043G>C (p.Glu681Asp)
c.2739G>C (p.Glu913Asp)
c.2736G>C (p.Glu912Asp)
c.2613G>C (p.Glu871Asp)
c.2496G>C (p.Glu832Asp)
c.1416G>C (p.Glu472Asp)
9g.114402772C>TCA5205549WHRNc.1050G>A (p.Glu350=)
c.2706G>A (p.Glu902=)
c.1679G>A
n.2587G>A
c.1557G>A (p.Glu519=)
c.1653G>A (p.Glu551=)
c.2703G>A (p.Glu901=)
c.2043G>A (p.Glu681=)
c.2739G>A (p.Glu913=)
c.2736G>A (p.Glu912=)
c.2613G>A (p.Glu871=)
c.2496G>A (p.Glu832=)
c.1416G>A (p.Glu472=)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.114402773T>ACA198648739WHRNc.1049A>T (p.Glu350Val)
c.2705A>T (p.Glu902Val)
c.1678A>T
n.2586A>T
c.1556A>T (p.Glu519Val)
c.1652A>T (p.Glu551Val)
c.2702A>T (p.Glu901Val)
c.2042A>T (p.Glu681Val)
c.2738A>T (p.Glu913Val)
c.2735A>T (p.Glu912Val)
c.2612A>T (p.Glu871Val)
c.2495A>T (p.Glu832Val)
c.1415A>T (p.Glu472Val)
dbSNP gnomAD v3 gnomAD v4
9g.114402773T>CCA374618765WHRNc.1049A>G (p.Glu350Gly)
c.2705A>G (p.Glu902Gly)
c.1678A>G
n.2586A>G
c.1556A>G (p.Glu519Gly)
c.1652A>G (p.Glu551Gly)
c.2702A>G (p.Glu901Gly)
c.2042A>G (p.Glu681Gly)
c.2738A>G (p.Glu913Gly)
c.2735A>G (p.Glu912Gly)
c.2612A>G (p.Glu871Gly)
c.2495A>G (p.Glu832Gly)
c.1415A>G (p.Glu472Gly)
9g.114402773T>GCA374618766WHRNc.1049A>C (p.Glu350Ala)
c.2705A>C (p.Glu902Ala)
c.1678A>C
n.2586A>C
c.1556A>C (p.Glu519Ala)
c.1652A>C (p.Glu551Ala)
c.2702A>C (p.Glu901Ala)
c.2042A>C (p.Glu681Ala)
c.2738A>C (p.Glu913Ala)
c.2735A>C (p.Glu912Ala)
c.2612A>C (p.Glu871Ala)
c.2495A>C (p.Glu832Ala)
c.1415A>C (p.Glu472Ala)
9g.114402773T=CA1873825325WHRNc.1049A= (p.Glu350=)
c.2705A= (p.Glu902=)
c.1678A=
n.2586A=
c.1556A= (p.Glu519=)
c.1652A= (p.Glu551=)
c.2702A= (p.Glu901=)
c.2042A= (p.Glu681=)
c.2738A= (p.Glu913=)
c.2735A= (p.Glu912=)
c.2612A= (p.Glu871=)
c.2495A= (p.Glu832=)
c.1415A= (p.Glu472=)
9g.114402774C>ACA374618767WHRNc.1048G>T (p.Glu350Ter)
c.2704G>T (p.Glu902Ter)
c.1677G>T
n.2585G>T
c.1555G>T (p.Glu519Ter)
c.1651G>T (p.Glu551Ter)
c.2701G>T (p.Glu901Ter)
c.2041G>T (p.Glu681Ter)
c.2737G>T (p.Glu913Ter)
c.2734G>T (p.Glu912Ter)
c.2611G>T (p.Glu871Ter)
c.2494G>T (p.Glu832Ter)
c.1414G>T (p.Glu472Ter)
9g.114402774C>GCA374618768WHRNc.1048G>C (p.Glu350Gln)
c.2704G>C (p.Glu902Gln)
c.1677G>C
n.2585G>C
c.1555G>C (p.Glu519Gln)
c.1651G>C (p.Glu551Gln)
c.2701G>C (p.Glu901Gln)
c.2041G>C (p.Glu681Gln)
c.2737G>C (p.Glu913Gln)
c.2734G>C (p.Glu912Gln)
c.2611G>C (p.Glu871Gln)
c.2494G>C (p.Glu832Gln)
c.1414G>C (p.Glu472Gln)
COSMIC COSMIC
9g.114402774C>TCA374618769WHRNc.1048G>A (p.Glu350Lys)
c.2704G>A (p.Glu902Lys)
c.1677G>A
n.2585G>A
c.1555G>A (p.Glu519Lys)
c.1651G>A (p.Glu551Lys)
c.2701G>A (p.Glu901Lys)
c.2041G>A (p.Glu681Lys)
c.2737G>A (p.Glu913Lys)
c.2734G>A (p.Glu912Lys)
c.2611G>A (p.Glu871Lys)
c.2494G>A (p.Glu832Lys)
c.1414G>A (p.Glu472Lys)
9g.114402775A>CCA466781775WHRNc.1047T>G (p.Thr349=)
c.2703T>G (p.Thr901=)
c.1676T>G
n.2584T>G
c.1554T>G (p.Thr518=)
c.1650T>G (p.Thr550=)
c.2700T>G (p.Thr900=)
c.2040T>G (p.Thr680=)
c.2736T>G (p.Thr912=)
c.2733T>G (p.Thr911=)
c.2610T>G (p.Thr870=)
c.2493T>G (p.Thr831=)
c.1413T>G (p.Thr471=)
9g.114402775A>GCA466781776WHRNc.1047T>C (p.Thr349=)
c.2703T>C (p.Thr901=)
c.1676T>C
n.2584T>C
c.1554T>C (p.Thr518=)
c.1650T>C (p.Thr550=)
c.2700T>C (p.Thr900=)
c.2040T>C (p.Thr680=)
c.2736T>C (p.Thr912=)
c.2733T>C (p.Thr911=)
c.2610T>C (p.Thr870=)
c.2493T>C (p.Thr831=)
c.1413T>C (p.Thr471=)
9g.114402775A>TCA466781777WHRNc.1047T>A (p.Thr349=)
c.2703T>A (p.Thr901=)
c.1676T>A
n.2584T>A
c.1554T>A (p.Thr518=)
c.1650T>A (p.Thr550=)
c.2700T>A (p.Thr900=)
c.2040T>A (p.Thr680=)
c.2736T>A (p.Thr912=)
c.2733T>A (p.Thr911=)
c.2610T>A (p.Thr870=)
c.2493T>A (p.Thr831=)
c.1413T>A (p.Thr471=)
9g.114402775dupCA2785655448WHRNc.1047dup (p.Glu350Ter)
c.2703dup (p.Glu902Ter)
c.1676dup
n.2584dup
c.1554dup (p.Glu519Ter)
c.1650dup (p.Glu551Ter)
c.2700dup (p.Glu901Ter)
c.2040dup (p.Glu681Ter)
c.2736dup (p.Glu913Ter)
c.2733dup (p.Glu912Ter)
c.2610dup (p.Glu871Ter)
c.2493dup (p.Glu832Ter)
c.1413dup (p.Glu472Ter)
9g.114402776G>ACA374618770WHRNc.1046C>T (p.Thr349Ile)
c.2702C>T (p.Thr901Ile)
c.1675C>T
n.2583C>T
c.1553C>T (p.Thr518Ile)
c.1649C>T (p.Thr550Ile)
c.2699C>T (p.Thr900Ile)
c.2039C>T (p.Thr680Ile)
c.2735C>T (p.Thr912Ile)
c.2732C>T (p.Thr911Ile)
c.2609C>T (p.Thr870Ile)
c.2492C>T (p.Thr831Ile)
c.1412C>T (p.Thr471Ile)
9g.114402776G>CCA374618771WHRNc.1046C>G (p.Thr349Ser)
c.2702C>G (p.Thr901Ser)
c.1675C>G
n.2583C>G
c.1553C>G (p.Thr518Ser)
c.1649C>G (p.Thr550Ser)
c.2699C>G (p.Thr900Ser)
c.2039C>G (p.Thr680Ser)
c.2735C>G (p.Thr912Ser)
c.2732C>G (p.Thr911Ser)
c.2609C>G (p.Thr870Ser)
c.2492C>G (p.Thr831Ser)
c.1412C>G (p.Thr471Ser)
9g.114402776G>TCA374618772WHRNc.1046C>A (p.Thr349Asn)
c.2702C>A (p.Thr901Asn)
c.1675C>A
n.2583C>A
c.1553C>A (p.Thr518Asn)
c.1649C>A (p.Thr550Asn)
c.2699C>A (p.Thr900Asn)
c.2039C>A (p.Thr680Asn)
c.2735C>A (p.Thr912Asn)
c.2732C>A (p.Thr911Asn)
c.2609C>A (p.Thr870Asn)
c.2492C>A (p.Thr831Asn)
c.1412C>A (p.Thr471Asn)
9g.114402777T>ACA374618773WHRNc.1045A>T (p.Thr349Ser)
c.2701A>T (p.Thr901Ser)
c.1674A>T
n.2582A>T
c.1552A>T (p.Thr518Ser)
c.1648A>T (p.Thr550Ser)
c.2698A>T (p.Thr900Ser)
c.2038A>T (p.Thr680Ser)
c.2734A>T (p.Thr912Ser)
c.2731A>T (p.Thr911Ser)
c.2608A>T (p.Thr870Ser)
c.2491A>T (p.Thr831Ser)
c.1411A>T (p.Thr471Ser)
9g.114402777T>CCA374618774WHRNc.1045A>G (p.Thr349Ala)
c.2701A>G (p.Thr901Ala)
c.1674A>G
n.2582A>G
c.1552A>G (p.Thr518Ala)
c.1648A>G (p.Thr550Ala)
c.2698A>G (p.Thr900Ala)
c.2038A>G (p.Thr680Ala)
c.2734A>G (p.Thr912Ala)
c.2731A>G (p.Thr911Ala)
c.2608A>G (p.Thr870Ala)
c.2491A>G (p.Thr831Ala)
c.1411A>G (p.Thr471Ala)
gnomAD v4
9g.114402777T>GCA374618775WHRNc.1045A>C (p.Thr349Pro)
c.2701A>C (p.Thr901Pro)
c.1674A>C
n.2582A>C
c.1552A>C (p.Thr518Pro)
c.1648A>C (p.Thr550Pro)
c.2698A>C (p.Thr900Pro)
c.2038A>C (p.Thr680Pro)
c.2734A>C (p.Thr912Pro)
c.2731A>C (p.Thr911Pro)
c.2608A>C (p.Thr870Pro)
c.2491A>C (p.Thr831Pro)
c.1411A>C (p.Thr471Pro)
ClinVar
9g.114402778G>ACA466781780WHRNc.1044C>T (p.Val348=)
c.2700C>T (p.Val900=)
c.1673C>T
n.2581C>T
c.1551C>T (p.Val517=)
c.1647C>T (p.Val549=)
c.2697C>T (p.Val899=)
c.2037C>T (p.Val679=)
c.2733C>T (p.Val911=)
c.2730C>T (p.Val910=)
c.2607C>T (p.Val869=)
c.2490C>T (p.Val830=)
c.1410C>T (p.Val470=)
dbSNP
9g.114402778G>CCA466781778WHRNc.1044C>G (p.Val348=)
c.2700C>G (p.Val900=)
c.1673C>G
n.2581C>G
c.1551C>G (p.Val517=)
c.1647C>G (p.Val549=)
c.2697C>G (p.Val899=)
c.2037C>G (p.Val679=)
c.2733C>G (p.Val911=)
c.2730C>G (p.Val910=)
c.2607C>G (p.Val869=)
c.2490C>G (p.Val830=)
c.1410C>G (p.Val470=)
9g.114402778G=CA1873825326WHRNc.1044C= (p.Val348=)
c.2700C= (p.Val900=)
c.1673C=
n.2581C=
c.1551C= (p.Val517=)
c.1647C= (p.Val549=)
c.2697C= (p.Val899=)
c.2037C= (p.Val679=)
c.2733C= (p.Val911=)
c.2730C= (p.Val910=)
c.2607C= (p.Val869=)
c.2490C= (p.Val830=)
c.1410C= (p.Val470=)
9g.114402778G>TCA466781779WHRNc.1044C>A (p.Val348=)
c.2700C>A (p.Val900=)
c.1673C>A
n.2581C>A
c.1551C>A (p.Val517=)
c.1647C>A (p.Val549=)
c.2697C>A (p.Val899=)
c.2037C>A (p.Val679=)
c.2733C>A (p.Val911=)
c.2730C>A (p.Val910=)
c.2607C>A (p.Val869=)
c.2490C>A (p.Val830=)
c.1410C>A (p.Val470=)
gnomAD v4
9g.114402779A>CCA374618777WHRNc.1043T>G (p.Val348Gly)
c.2699T>G (p.Val900Gly)
c.1672T>G
n.2580T>G
c.1550T>G (p.Val517Gly)
c.1646T>G (p.Val549Gly)
c.2696T>G (p.Val899Gly)
c.2036T>G (p.Val679Gly)
c.2732T>G (p.Val911Gly)
c.2729T>G (p.Val910Gly)
c.2606T>G (p.Val869Gly)
c.2489T>G (p.Val830Gly)
c.1409T>G (p.Val470Gly)
9g.114402779A>GCA374618778WHRNc.1043T>C (p.Val348Ala)
c.2699T>C (p.Val900Ala)
c.1672T>C
n.2580T>C
c.1550T>C (p.Val517Ala)
c.1646T>C (p.Val549Ala)
c.2696T>C (p.Val899Ala)
c.2036T>C (p.Val679Ala)
c.2732T>C (p.Val911Ala)
c.2729T>C (p.Val910Ala)
c.2606T>C (p.Val869Ala)
c.2489T>C (p.Val830Ala)
c.1409T>C (p.Val470Ala)
9g.114402779A>TCA374618776WHRNc.1043T>A (p.Val348Asp)
c.2699T>A (p.Val900Asp)
c.1672T>A
n.2580T>A
c.1550T>A (p.Val517Asp)
c.1646T>A (p.Val549Asp)
c.2696T>A (p.Val899Asp)
c.2036T>A (p.Val679Asp)
c.2732T>A (p.Val911Asp)
c.2729T>A (p.Val910Asp)
c.2606T>A (p.Val869Asp)
c.2489T>A (p.Val830Asp)
c.1409T>A (p.Val470Asp)
9g.114402780C>ACA374618779WHRNc.1042G>T (p.Val348Phe)
c.2698G>T (p.Val900Phe)
c.1671G>T
n.2579G>T
c.1549G>T (p.Val517Phe)
c.1645G>T (p.Val549Phe)
c.2695G>T (p.Val899Phe)
c.2035G>T (p.Val679Phe)
c.2731G>T (p.Val911Phe)
c.2728G>T (p.Val910Phe)
c.2605G>T (p.Val869Phe)
c.2488G>T (p.Val830Phe)
c.1408G>T (p.Val470Phe)
COSMIC COSMIC
9g.114402780C>GCA374618780WHRNc.1042G>C (p.Val348Leu)
c.2698G>C (p.Val900Leu)
c.1671G>C
n.2579G>C
c.1549G>C (p.Val517Leu)
c.1645G>C (p.Val549Leu)
c.2695G>C (p.Val899Leu)
c.2035G>C (p.Val679Leu)
c.2731G>C (p.Val911Leu)
c.2728G>C (p.Val910Leu)
c.2605G>C (p.Val869Leu)
c.2488G>C (p.Val830Leu)
c.1408G>C (p.Val470Leu)
9g.114402780C>TCA374618781WHRNc.1042G>A (p.Val348Ile)
c.2698G>A (p.Val900Ile)
c.1671G>A
n.2579G>A
c.1549G>A (p.Val517Ile)
c.1645G>A (p.Val549Ile)
c.2695G>A (p.Val899Ile)
c.2035G>A (p.Val679Ile)
c.2731G>A (p.Val911Ile)
c.2728G>A (p.Val910Ile)
c.2605G>A (p.Val869Ile)
c.2488G>A (p.Val830Ile)
c.1408G>A (p.Val470Ile)
9g.114402781C>ACA466781781WHRNc.1041G>T (p.Leu347=)
c.2697G>T (p.Leu899=)
c.1670G>T
n.2578G>T
c.1548G>T (p.Leu516=)
c.1644G>T (p.Leu548=)
c.2694G>T (p.Leu898=)
c.2034G>T (p.Leu678=)
c.2730G>T (p.Leu910=)
c.2727G>T (p.Leu909=)
c.2604G>T (p.Leu868=)
c.2487G>T (p.Leu829=)
c.1407G>T (p.Leu469=)
9g.114402781C>GCA466781782WHRNc.1041G>C (p.Leu347=)
c.2697G>C (p.Leu899=)
c.1670G>C
n.2578G>C
c.1548G>C (p.Leu516=)
c.1644G>C (p.Leu548=)
c.2694G>C (p.Leu898=)
c.2034G>C (p.Leu678=)
c.2730G>C (p.Leu910=)
c.2727G>C (p.Leu909=)
c.2604G>C (p.Leu868=)
c.2487G>C (p.Leu829=)
c.1407G>C (p.Leu469=)
9g.114402781C>TCA466781783WHRNc.1041G>A (p.Leu347=)
c.2697G>A (p.Leu899=)
c.1670G>A
n.2578G>A
c.1548G>A (p.Leu516=)
c.1644G>A (p.Leu548=)
c.2694G>A (p.Leu898=)
c.2034G>A (p.Leu678=)
c.2730G>A (p.Leu910=)
c.2727G>A (p.Leu909=)
c.2604G>A (p.Leu868=)
c.2487G>A (p.Leu829=)
c.1407G>A (p.Leu469=)
9g.114402782A>CCA374618782WHRNc.1040T>G (p.Leu347Arg)
c.2696T>G (p.Leu899Arg)
c.1669T>G
n.2577T>G
c.1547T>G (p.Leu516Arg)
c.1643T>G (p.Leu548Arg)
c.2693T>G (p.Leu898Arg)
c.2033T>G (p.Leu678Arg)
c.2729T>G (p.Leu910Arg)
c.2726T>G (p.Leu909Arg)
c.2603T>G (p.Leu868Arg)
c.2486T>G (p.Leu829Arg)
c.1406T>G (p.Leu469Arg)
9g.114402782A>GCA374618783WHRNc.1040T>C (p.Leu347Pro)
c.2696T>C (p.Leu899Pro)
c.1669T>C
n.2577T>C
c.1547T>C (p.Leu516Pro)
c.1643T>C (p.Leu548Pro)
c.2693T>C (p.Leu898Pro)
c.2033T>C (p.Leu678Pro)
c.2729T>C (p.Leu910Pro)
c.2726T>C (p.Leu909Pro)
c.2603T>C (p.Leu868Pro)
c.2486T>C (p.Leu829Pro)
c.1406T>C (p.Leu469Pro)
9g.114402782A>TCA374618784WHRNc.1040T>A (p.Leu347Gln)
c.2696T>A (p.Leu899Gln)
c.1669T>A
n.2577T>A
c.1547T>A (p.Leu516Gln)
c.1643T>A (p.Leu548Gln)
c.2693T>A (p.Leu898Gln)
c.2033T>A (p.Leu678Gln)
c.2729T>A (p.Leu910Gln)
c.2726T>A (p.Leu909Gln)
c.2603T>A (p.Leu868Gln)
c.2486T>A (p.Leu829Gln)
c.1406T>A (p.Leu469Gln)
9g.114402783G>ACA466781784WHRNc.1039C>T (p.Leu347=)
c.2695C>T (p.Leu899=)
c.1668C>T
n.2576C>T
c.1546C>T (p.Leu516=)
c.1642C>T (p.Leu548=)
c.2692C>T (p.Leu898=)
c.2032C>T (p.Leu678=)
c.2728C>T (p.Leu910=)
c.2725C>T (p.Leu909=)
c.2602C>T (p.Leu868=)
c.2485C>T (p.Leu829=)
c.1405C>T (p.Leu469=)
9g.114402783G>CCA5205550WHRNc.1039C>G (p.Leu347Val)
c.2695C>G (p.Leu899Val)
c.1668C>G
n.2576C>G
c.1546C>G (p.Leu516Val)
c.1642C>G (p.Leu548Val)
c.2692C>G (p.Leu898Val)
c.2032C>G (p.Leu678Val)
c.2728C>G (p.Leu910Val)
c.2725C>G (p.Leu909Val)
c.2602C>G (p.Leu868Val)
c.2485C>G (p.Leu829Val)
c.1405C>G (p.Leu469Val)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.114402783G=CA1873825327WHRNc.1039C= (p.Leu347=)
c.2695C= (p.Leu899=)
c.1668C=
n.2576C=
c.1546C= (p.Leu516=)
c.1642C= (p.Leu548=)
c.2692C= (p.Leu898=)
c.2032C= (p.Leu678=)
c.2728C= (p.Leu910=)
c.2725C= (p.Leu909=)
c.2602C= (p.Leu868=)
c.2485C= (p.Leu829=)
c.1405C= (p.Leu469=)
9g.114402783G>TCA374618785WHRNc.1039C>A (p.Leu347Met)
c.2695C>A (p.Leu899Met)
c.1668C>A
n.2576C>A
c.1546C>A (p.Leu516Met)
c.1642C>A (p.Leu548Met)
c.2692C>A (p.Leu898Met)
c.2032C>A (p.Leu678Met)
c.2728C>A (p.Leu910Met)
c.2725C>A (p.Leu909Met)
c.2602C>A (p.Leu868Met)
c.2485C>A (p.Leu829Met)
c.1405C>A (p.Leu469Met)
dbSNP gnomAD v2 gnomAD v4
9g.114402784A=CA1873825328WHRNc.1038T= (p.Phe346=)
c.2694T= (p.Phe898=)
c.1667T=
n.2575T=
c.1545T= (p.Phe515=)
c.1641T= (p.Phe547=)
c.2691T= (p.Phe897=)
c.2031T= (p.Phe677=)
c.2727T= (p.Phe909=)
c.2724T= (p.Phe908=)
c.2601T= (p.Phe867=)
c.2484T= (p.Phe828=)
c.1404T= (p.Phe468=)
9g.114402784A>CCA374618786WHRNc.1038T>G (p.Phe346Leu)
c.2694T>G (p.Phe898Leu)
c.1667T>G
n.2575T>G
c.1545T>G (p.Phe515Leu)
c.1641T>G (p.Phe547Leu)
c.2691T>G (p.Phe897Leu)
c.2031T>G (p.Phe677Leu)
c.2727T>G (p.Phe909Leu)
c.2724T>G (p.Phe908Leu)
c.2601T>G (p.Phe867Leu)
c.2484T>G (p.Phe828Leu)
c.1404T>G (p.Phe468Leu)
9g.114402784A>GCA198648741WHRNc.1038T>C (p.Phe346=)
c.2694T>C (p.Phe898=)
c.1667T>C
n.2575T>C
c.1545T>C (p.Phe515=)
c.1641T>C (p.Phe547=)
c.2691T>C (p.Phe897=)
c.2031T>C (p.Phe677=)
c.2727T>C (p.Phe909=)
c.2724T>C (p.Phe908=)
c.2601T>C (p.Phe867=)
c.2484T>C (p.Phe828=)
c.1404T>C (p.Phe468=)
dbSNP gnomAD v4
9g.114402784A>TCA374618787WHRNc.1038T>A (p.Phe346Leu)
c.2694T>A (p.Phe898Leu)
c.1667T>A
n.2575T>A
c.1545T>A (p.Phe515Leu)
c.1641T>A (p.Phe547Leu)
c.2691T>A (p.Phe897Leu)
c.2031T>A (p.Phe677Leu)
c.2727T>A (p.Phe909Leu)
c.2724T>A (p.Phe908Leu)
c.2601T>A (p.Phe867Leu)
c.2484T>A (p.Phe828Leu)
c.1404T>A (p.Phe468Leu)
9g.114402785A>CCA374618788WHRNc.1037T>G (p.Phe346Cys)
c.2693T>G (p.Phe898Cys)
c.1666T>G
n.2574T>G
c.1544T>G (p.Phe515Cys)
c.1640T>G (p.Phe547Cys)
c.2690T>G (p.Phe897Cys)
c.2030T>G (p.Phe677Cys)
c.2726T>G (p.Phe909Cys)
c.2723T>G (p.Phe908Cys)
c.2600T>G (p.Phe867Cys)
c.2483T>G (p.Phe828Cys)
c.1403T>G (p.Phe468Cys)
9g.114402785A>GCA374618789WHRNc.1037T>C (p.Phe346Ser)
c.2693T>C (p.Phe898Ser)
c.1666T>C
n.2574T>C
c.1544T>C (p.Phe515Ser)
c.1640T>C (p.Phe547Ser)
c.2690T>C (p.Phe897Ser)
c.2030T>C (p.Phe677Ser)
c.2726T>C (p.Phe909Ser)
c.2723T>C (p.Phe908Ser)
c.2600T>C (p.Phe867Ser)
c.2483T>C (p.Phe828Ser)
c.1403T>C (p.Phe468Ser)
9g.114402785A>TCA374618790WHRNc.1037T>A (p.Phe346Tyr)
c.2693T>A (p.Phe898Tyr)
c.1666T>A
n.2574T>A
c.1544T>A (p.Phe515Tyr)
c.1640T>A (p.Phe547Tyr)
c.2690T>A (p.Phe897Tyr)
c.2030T>A (p.Phe677Tyr)
c.2726T>A (p.Phe909Tyr)
c.2723T>A (p.Phe908Tyr)
c.2600T>A (p.Phe867Tyr)
c.2483T>A (p.Phe828Tyr)
c.1403T>A (p.Phe468Tyr)
9g.114402786A>CCA374618793WHRNc.1036T>G (p.Phe346Val)
c.2692T>G (p.Phe898Val)
c.1665T>G
n.2573T>G
c.1543T>G (p.Phe515Val)
c.1639T>G (p.Phe547Val)
c.2689T>G (p.Phe897Val)
c.2029T>G (p.Phe677Val)
c.2725T>G (p.Phe909Val)
c.2722T>G (p.Phe908Val)
c.2599T>G (p.Phe867Val)
c.2482T>G (p.Phe828Val)
c.1402T>G (p.Phe468Val)
9g.114402786A>GCA374618792WHRNc.1036T>C (p.Phe346Leu)
c.2692T>C (p.Phe898Leu)
c.1665T>C
n.2573T>C
c.1543T>C (p.Phe515Leu)
c.1639T>C (p.Phe547Leu)
c.2689T>C (p.Phe897Leu)
c.2029T>C (p.Phe677Leu)
c.2725T>C (p.Phe909Leu)
c.2722T>C (p.Phe908Leu)
c.2599T>C (p.Phe867Leu)
c.2482T>C (p.Phe828Leu)
c.1402T>C (p.Phe468Leu)
9g.114402786A>TCA374618791WHRNc.1036T>A (p.Phe346Ile)
c.2692T>A (p.Phe898Ile)
c.1665T>A
n.2573T>A
c.1543T>A (p.Phe515Ile)
c.1639T>A (p.Phe547Ile)
c.2689T>A (p.Phe897Ile)
c.2029T>A (p.Phe677Ile)
c.2725T>A (p.Phe909Ile)
c.2722T>A (p.Phe908Ile)
c.2599T>A (p.Phe867Ile)
c.2482T>A (p.Phe828Ile)
c.1402T>A (p.Phe468Ile)
9g.114402787G>ACA466781786WHRNc.1035C>T (p.Asp345=)
c.2691C>T (p.Asp897=)
c.1664C>T
n.2572C>T
c.1542C>T (p.Asp514=)
c.1638C>T (p.Asp546=)
c.2688C>T (p.Asp896=)
c.2028C>T (p.Asp676=)
c.2724C>T (p.Asp908=)
c.2721C>T (p.Asp907=)
c.2598C>T (p.Asp866=)
c.2481C>T (p.Asp827=)
c.1401C>T (p.Asp467=)
gnomAD v4
9g.114402787G>CCA374618794WHRNc.1035C>G (p.Asp345Glu)
c.2691C>G (p.Asp897Glu)
c.1664C>G
n.2572C>G
c.1542C>G (p.Asp514Glu)
c.1638C>G (p.Asp546Glu)
c.2688C>G (p.Asp896Glu)
c.2028C>G (p.Asp676Glu)
c.2724C>G (p.Asp908Glu)
c.2721C>G (p.Asp907Glu)
c.2598C>G (p.Asp866Glu)
c.2481C>G (p.Asp827Glu)
c.1401C>G (p.Asp467Glu)
dbSNP gnomAD v2 gnomAD v4
9g.114402787G=CA1873825329WHRNc.1035C= (p.Asp345=)
c.2691C= (p.Asp897=)
c.1664C=
n.2572C=
c.1542C= (p.Asp514=)
c.1638C= (p.Asp546=)
c.2688C= (p.Asp896=)
c.2028C= (p.Asp676=)
c.2724C= (p.Asp908=)
c.2721C= (p.Asp907=)
c.2598C= (p.Asp866=)
c.2481C= (p.Asp827=)
c.1401C= (p.Asp467=)
9g.114402787G>TCA374618795WHRNc.1035C>A (p.Asp345Glu)
c.2691C>A (p.Asp897Glu)
c.1664C>A
n.2572C>A
c.1542C>A (p.Asp514Glu)
c.1638C>A (p.Asp546Glu)
c.2688C>A (p.Asp896Glu)
c.2028C>A (p.Asp676Glu)
c.2724C>A (p.Asp908Glu)
c.2721C>A (p.Asp907Glu)
c.2598C>A (p.Asp866Glu)
c.2481C>A (p.Asp827Glu)
c.1401C>A (p.Asp467Glu)
9g.114402788T>ACA374618797WHRNc.1034A>T (p.Asp345Val)
c.2690A>T (p.Asp897Val)
c.1663A>T
n.2571A>T
c.1541A>T (p.Asp514Val)
c.1637A>T (p.Asp546Val)
c.2687A>T (p.Asp896Val)
c.2027A>T (p.Asp676Val)
c.2723A>T (p.Asp908Val)
c.2720A>T (p.Asp907Val)
c.2597A>T (p.Asp866Val)
c.2480A>T (p.Asp827Val)
c.1400A>T (p.Asp467Val)
9g.114402788T>CCA374618798WHRNc.1034A>G (p.Asp345Gly)
c.2690A>G (p.Asp897Gly)
c.1663A>G
n.2571A>G
c.1541A>G (p.Asp514Gly)
c.1637A>G (p.Asp546Gly)
c.2687A>G (p.Asp896Gly)
c.2027A>G (p.Asp676Gly)
c.2723A>G (p.Asp908Gly)
c.2720A>G (p.Asp907Gly)
c.2597A>G (p.Asp866Gly)
c.2480A>G (p.Asp827Gly)
c.1400A>G (p.Asp467Gly)
9g.114402788T>GCA5205551WHRNc.1034A>C (p.Asp345Ala)
c.2690A>C (p.Asp897Ala)
c.1663A>C
n.2571A>C
c.1541A>C (p.Asp514Ala)
c.1637A>C (p.Asp546Ala)
c.2687A>C (p.Asp896Ala)
c.2027A>C (p.Asp676Ala)
c.2723A>C (p.Asp908Ala)
c.2720A>C (p.Asp907Ala)
c.2597A>C (p.Asp866Ala)
c.2480A>C (p.Asp827Ala)
c.1400A>C (p.Asp467Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402788T=CA1873825330WHRNc.1034A= (p.Asp345=)
c.2690A= (p.Asp897=)
c.1663A=
n.2571A=
c.1541A= (p.Asp514=)
c.1637A= (p.Asp546=)
c.2687A= (p.Asp896=)
c.2027A= (p.Asp676=)
c.2723A= (p.Asp908=)
c.2720A= (p.Asp907=)
c.2597A= (p.Asp866=)
c.2480A= (p.Asp827=)
c.1400A= (p.Asp467=)
9g.114402789C>ACA374618799WHRNc.1033G>T (p.Asp345Tyr)
c.2689G>T (p.Asp897Tyr)
c.1662G>T
n.2570G>T
c.1540G>T (p.Asp514Tyr)
c.1636G>T (p.Asp546Tyr)
c.2686G>T (p.Asp896Tyr)
c.2026G>T (p.Asp676Tyr)
c.2722G>T (p.Asp908Tyr)
c.2719G>T (p.Asp907Tyr)
c.2596G>T (p.Asp866Tyr)
c.2479G>T (p.Asp827Tyr)
c.1399G>T (p.Asp467Tyr)
9g.114402789C>GCA374618800WHRNc.1033G>C (p.Asp345His)
c.2689G>C (p.Asp897His)
c.1662G>C
n.2570G>C
c.1540G>C (p.Asp514His)
c.1636G>C (p.Asp546His)
c.2686G>C (p.Asp896His)
c.2026G>C (p.Asp676His)
c.2722G>C (p.Asp908His)
c.2719G>C (p.Asp907His)
c.2596G>C (p.Asp866His)
c.2479G>C (p.Asp827His)
c.1399G>C (p.Asp467His)
9g.114402789C>TCA374618801WHRNc.1033G>A (p.Asp345Asn)
c.2689G>A (p.Asp897Asn)
c.1662G>A
n.2570G>A
c.1540G>A (p.Asp514Asn)
c.1636G>A (p.Asp546Asn)
c.2686G>A (p.Asp896Asn)
c.2026G>A (p.Asp676Asn)
c.2722G>A (p.Asp908Asn)
c.2719G>A (p.Asp907Asn)
c.2596G>A (p.Asp866Asn)
c.2479G>A (p.Asp827Asn)
c.1399G>A (p.Asp467Asn)
9g.114402790A>CCA374618802WHRNc.1032T>G (p.Ile344Met)
c.2688T>G (p.Ile896Met)
c.1661T>G
n.2569T>G
c.1539T>G (p.Ile513Met)
c.1635T>G (p.Ile545Met)
c.2685T>G (p.Ile895Met)
c.2025T>G (p.Ile675Met)
c.2721T>G (p.Ile907Met)
c.2718T>G (p.Ile906Met)
c.2595T>G (p.Ile865Met)
c.2478T>G (p.Ile826Met)
c.1398T>G (p.Ile466Met)
gnomAD v4
9g.114402790A>GCA466781788WHRNc.1032T>C (p.Ile344=)
c.2688T>C (p.Ile896=)
c.1661T>C
n.2569T>C
c.1539T>C (p.Ile513=)
c.1635T>C (p.Ile545=)
c.2685T>C (p.Ile895=)
c.2025T>C (p.Ile675=)
c.2721T>C (p.Ile907=)
c.2718T>C (p.Ile906=)
c.2595T>C (p.Ile865=)
c.2478T>C (p.Ile826=)
c.1398T>C (p.Ile466=)
9g.114402790A>TCA466781790WHRNc.1032T>A (p.Ile344=)
c.2688T>A (p.Ile896=)
c.1661T>A
n.2569T>A
c.1539T>A (p.Ile513=)
c.1635T>A (p.Ile545=)
c.2685T>A (p.Ile895=)
c.2025T>A (p.Ile675=)
c.2721T>A (p.Ile907=)
c.2718T>A (p.Ile906=)
c.2595T>A (p.Ile865=)
c.2478T>A (p.Ile826=)
c.1398T>A (p.Ile466=)
9g.114402791A=CA1873825331WHRNc.1031T= (p.Ile344=)
c.2687T= (p.Ile896=)
c.1660T=
n.2568T=
c.1538T= (p.Ile513=)
c.1634T= (p.Ile545=)
c.2684T= (p.Ile895=)
c.2024T= (p.Ile675=)
c.2720T= (p.Ile907=)
c.2717T= (p.Ile906=)
c.2594T= (p.Ile865=)
c.2477T= (p.Ile826=)
c.1397T= (p.Ile466=)
9g.114402791A>CCA374618803WHRNc.1031T>G (p.Ile344Ser)
c.2687T>G (p.Ile896Ser)
c.1660T>G
n.2568T>G
c.1538T>G (p.Ile513Ser)
c.1634T>G (p.Ile545Ser)
c.2684T>G (p.Ile895Ser)
c.2024T>G (p.Ile675Ser)
c.2720T>G (p.Ile907Ser)
c.2717T>G (p.Ile906Ser)
c.2594T>G (p.Ile865Ser)
c.2477T>G (p.Ile826Ser)
c.1397T>G (p.Ile466Ser)
gnomAD v4
9g.114402791A>GCA5205552WHRNc.1031T>C (p.Ile344Thr)
c.2687T>C (p.Ile896Thr)
c.1660T>C
n.2568T>C
c.1538T>C (p.Ile513Thr)
c.1634T>C (p.Ile545Thr)
c.2684T>C (p.Ile895Thr)
c.2024T>C (p.Ile675Thr)
c.2720T>C (p.Ile907Thr)
c.2717T>C (p.Ile906Thr)
c.2594T>C (p.Ile865Thr)
c.2477T>C (p.Ile826Thr)
c.1397T>C (p.Ile466Thr)
dbSNP ExAC gnomAD v3 gnomAD v4
9g.114402791A>TCA374618804WHRNc.1031T>A (p.Ile344Asn)
c.2687T>A (p.Ile896Asn)
c.1660T>A
n.2568T>A
c.1538T>A (p.Ile513Asn)
c.1634T>A (p.Ile545Asn)
c.2684T>A (p.Ile895Asn)
c.2024T>A (p.Ile675Asn)
c.2720T>A (p.Ile907Asn)
c.2717T>A (p.Ile906Asn)
c.2594T>A (p.Ile865Asn)
c.2477T>A (p.Ile826Asn)
c.1397T>A (p.Ile466Asn)
9g.114402792T>ACA5205554WHRNc.1030A>T (p.Ile344Phe)
c.2686A>T (p.Ile896Phe)
c.1659A>T
n.2567A>T
c.1537A>T (p.Ile513Phe)
c.1633A>T (p.Ile545Phe)
c.2683A>T (p.Ile895Phe)
c.2023A>T (p.Ile675Phe)
c.2719A>T (p.Ile907Phe)
c.2716A>T (p.Ile906Phe)
c.2593A>T (p.Ile865Phe)
c.2476A>T (p.Ile826Phe)
c.1396A>T (p.Ile466Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.114402792T>CCA5205553WHRNc.1030A>G (p.Ile344Val)
c.2686A>G (p.Ile896Val)
c.1659A>G
n.2567A>G
c.1537A>G (p.Ile513Val)
c.1633A>G (p.Ile545Val)
c.2683A>G (p.Ile895Val)
c.2023A>G (p.Ile675Val)
c.2719A>G (p.Ile907Val)
c.2716A>G (p.Ile906Val)
c.2593A>G (p.Ile865Val)
c.2476A>G (p.Ile826Val)
c.1396A>G (p.Ile466Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.114402792T>GCA374618805WHRNc.1030A>C (p.Ile344Leu)
c.2686A>C (p.Ile896Leu)
c.1659A>C
n.2567A>C
c.1537A>C (p.Ile513Leu)
c.1633A>C (p.Ile545Leu)
c.2683A>C (p.Ile895Leu)
c.2023A>C (p.Ile675Leu)
c.2719A>C (p.Ile907Leu)
c.2716A>C (p.Ile906Leu)
c.2593A>C (p.Ile865Leu)
c.2476A>C (p.Ile826Leu)
c.1396A>C (p.Ile466Leu)
9g.114402792T=CA1873825332WHRNc.1030A= (p.Ile344=)
c.2686A= (p.Ile896=)
c.1659A=
n.2567A=
c.1537A= (p.Ile513=)
c.1633A= (p.Ile545=)
c.2683A= (p.Ile895=)
c.2023A= (p.Ile675=)
c.2719A= (p.Ile907=)
c.2716A= (p.Ile906=)
c.2593A= (p.Ile865=)
c.2476A= (p.Ile826=)
c.1396A= (p.Ile466=)
9g.114402793G>ACA466781792WHRNc.1029C>T (p.Tyr343=)
c.2685C>T (p.Tyr895=)
c.1658C>T
n.2566C>T
c.1536C>T (p.Tyr512=)
c.1632C>T (p.Tyr544=)
c.2682C>T (p.Tyr894=)
c.2022C>T (p.Tyr674=)
c.2718C>T (p.Tyr906=)
c.2715C>T (p.Tyr905=)
c.2592C>T (p.Tyr864=)
c.2475C>T (p.Tyr825=)
c.1395C>T (p.Tyr465=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.114402793G>CCA374618806WHRNc.1029C>G (p.Tyr343Ter)
c.2685C>G (p.Tyr895Ter)
c.1658C>G
n.2566C>G
c.1536C>G (p.Tyr512Ter)
c.1632C>G (p.Tyr544Ter)
c.2682C>G (p.Tyr894Ter)
c.2022C>G (p.Tyr674Ter)
c.2718C>G (p.Tyr906Ter)
c.2715C>G (p.Tyr905Ter)
c.2592C>G (p.Tyr864Ter)
c.2475C>G (p.Tyr825Ter)
c.1395C>G (p.Tyr465Ter)
9g.114402793G=CA1873825333WHRNc.1029C= (p.Tyr343=)
c.2685C= (p.Tyr895=)
c.1658C=
n.2566C=
c.1536C= (p.Tyr512=)
c.1632C= (p.Tyr544=)
c.2682C= (p.Tyr894=)
c.2022C= (p.Tyr674=)
c.2718C= (p.Tyr906=)
c.2715C= (p.Tyr905=)
c.2592C= (p.Tyr864=)
c.2475C= (p.Tyr825=)
c.1395C= (p.Tyr465=)
9g.114402793G>TCA374618807WHRNc.1029C>A (p.Tyr343Ter)
c.2685C>A (p.Tyr895Ter)
c.1658C>A
n.2566C>A
c.1536C>A (p.Tyr512Ter)
c.1632C>A (p.Tyr544Ter)
c.2682C>A (p.Tyr894Ter)
c.2022C>A (p.Tyr674Ter)
c.2718C>A (p.Tyr906Ter)
c.2715C>A (p.Tyr905Ter)
c.2592C>A (p.Tyr864Ter)
c.2475C>A (p.Tyr825Ter)
c.1395C>A (p.Tyr465Ter)

Number of alleles fetched