Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169541812C>ACA343118724F5c.3278G>T (p.Trp1093Leu)
c.3293G>T (p.Trp1098Leu)
c.2867G>T (p.Trp956Leu)
1g.169541812C>GCA343118726F5c.3278G>C (p.Trp1093Ser)
c.3293G>C (p.Trp1098Ser)
c.2867G>C (p.Trp956Ser)
1g.169541812C>TCA343118728F5c.3278G>A (p.Trp1093Ter)
c.3293G>A (p.Trp1098Ter)
c.2867G>A (p.Trp956Ter)
1g.169541813A=CA1206132460F5c.3277T= (p.Trp1093=)
c.3292T= (p.Trp1098=)
c.2866T= (p.Trp956=)
1g.169541813A>CCA343118730F5c.3277T>G (p.Trp1093Gly)
c.3292T>G (p.Trp1098Gly)
c.2866T>G (p.Trp956Gly)
1g.169541813A>GCA343118732F5c.3277T>C (p.Trp1093Arg)
c.3292T>C (p.Trp1098Arg)
c.2866T>C (p.Trp956Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169541813A>TCA343118734F5c.3277T>A (p.Trp1093Arg)
c.3292T>A (p.Trp1098Arg)
c.2866T>A (p.Trp956Arg)
1g.169541814G>ACA421930677F5c.3276C>T (p.Gly1092=)
c.3291C>T (p.Gly1097=)
c.2865C>T (p.Gly955=)
1g.169541814G>CCA421930678F5c.3276C>G (p.Gly1092=)
c.3291C>G (p.Gly1097=)
c.2865C>G (p.Gly955=)
1g.169541814G>TCA421930679F5c.3276C>A (p.Gly1092=)
c.3291C>A (p.Gly1097=)
c.2865C>A (p.Gly955=)
1g.169541815C>ACA343118736F5c.3275G>T (p.Gly1092Val)
c.3290G>T (p.Gly1097Val)
c.2864G>T (p.Gly955Val)
 dbSNP gnomAD v4
1g.169541815C=CA1206132462F5c.3275G= (p.Gly1092=)
c.3290G= (p.Gly1097=)
c.2864G= (p.Gly955=)
1g.169541815C>GCA343118737F5c.3275G>C (p.Gly1092Ala)
c.3290G>C (p.Gly1097Ala)
c.2864G>C (p.Gly955Ala)
1g.169541815C>TCA343118739F5c.3275G>A (p.Gly1092Asp)
c.3290G>A (p.Gly1097Asp)
c.2864G>A (p.Gly955Asp)
1g.169541816C>ACA343118744F5c.3274G>T (p.Gly1092Cys)
c.3289G>T (p.Gly1097Cys)
c.2863G>T (p.Gly955Cys)
1g.169541816C>GCA343118742F5c.3274G>C (p.Gly1092Arg)
c.3289G>C (p.Gly1097Arg)
c.2863G>C (p.Gly955Arg)
1g.169541816C>TCA343118741F5c.3274G>A (p.Gly1092Ser)
c.3289G>A (p.Gly1097Ser)
c.2863G>A (p.Gly955Ser)
1g.169541817A=CA1206132463F5c.3273T= (p.Phe1091=)
c.3288T= (p.Phe1096=)
c.2862T= (p.Phe954=)
1g.169541817A>CCA343118746F5c.3273T>G (p.Phe1091Leu)
c.3288T>G (p.Phe1096Leu)
c.2862T>G (p.Phe954Leu)
 dbSNP
1g.169541817A>GCA421930683F5c.3273T>C (p.Phe1091=)
c.3288T>C (p.Phe1096=)
c.2862T>C (p.Phe954=)
 gnomAD v4
1g.169541817A>TCA343118748F5c.3273T>A (p.Phe1091Leu)
c.3288T>A (p.Phe1096Leu)
c.2862T>A (p.Phe954Leu)
1g.169541818A>CCA343118750F5c.3272T>G (p.Phe1091Cys)
c.3287T>G (p.Phe1096Cys)
c.2861T>G (p.Phe954Cys)
1g.169541818A>GCA343118751F5c.3272T>C (p.Phe1091Ser)
c.3287T>C (p.Phe1096Ser)
c.2861T>C (p.Phe954Ser)
1g.169541818A>TCA343118753F5c.3272T>A (p.Phe1091Tyr)
c.3287T>A (p.Phe1096Tyr)
c.2861T>A (p.Phe954Tyr)
1g.169541819A=CA1206132464F5c.3271T= (p.Phe1091=)
c.3286T= (p.Phe1096=)
c.2860T= (p.Phe954=)
1g.169541819A>CCA343118755F5c.3271T>G (p.Phe1091Val)
c.3286T>G (p.Phe1096Val)
c.2860T>G (p.Phe954Val)
1g.169541819A>GCA343118757F5c.3271T>C (p.Phe1091Leu)
c.3286T>C (p.Phe1096Leu)
c.2860T>C (p.Phe954Leu)
1g.169541819A>TCA1233936F5c.3271T>A (p.Phe1091Ile)
c.3286T>A (p.Phe1096Ile)
c.2860T>A (p.Phe954Ile)
 dbSNP ExAC gnomAD v2
1g.169541819_169541820insCCA2746577668F5c.3270_3271insG (p.Phe1091ValfsTer9)
c.3285_3286insG (p.Phe1096ValfsTer9)
c.2859_2860insG (p.Phe954ValfsTer9)
1g.169541819_169541820insCACACCCAACACCA2746577669F5c.3270_3271insGTGTTGGGTGTG (p.Asp1090_Phe1091insValLeuGlyVal)
c.3285_3286insGTGTTGGGTGTG (p.Asp1095_Phe1096insValLeuGlyVal)
c.2859_2860insGTGTTGGGTGTG (p.Asp953_Phe954insValLeuGlyVal)
1g.169541820A>CCA343118761F5c.3270T>G (p.Asp1090Glu)
c.3285T>G (p.Asp1095Glu)
c.2859T>G (p.Asp953Glu)
1g.169541820A>GCA421930687F5c.3270T>C (p.Asp1090=)
c.3285T>C (p.Asp1095=)
c.2859T>C (p.Asp953=)
1g.169541820A>TCA343118759F5c.3270T>A (p.Asp1090Glu)
c.3285T>A (p.Asp1095Glu)
c.2859T>A (p.Asp953Glu)
 gnomAD v4
1g.169541821T>ACA343118763F5c.3269A>T (p.Asp1090Val)
c.3284A>T (p.Asp1095Val)
c.2858A>T (p.Asp953Val)
1g.169541821T>CCA343118764F5c.3269A>G (p.Asp1090Gly)
c.3284A>G (p.Asp1095Gly)
c.2858A>G (p.Asp953Gly)
 ClinVar dbSNP gnomAD v4
1g.169541821T>GCA343118766F5c.3269A>C (p.Asp1090Ala)
c.3284A>C (p.Asp1095Ala)
c.2858A>C (p.Asp953Ala)
1g.169541821T=CA1206132467F5c.3269A= (p.Asp1090=)
c.3284A= (p.Asp1095=)
c.2858A= (p.Asp953=)
1g.169541822C>ACA343118768F5c.3268G>T (p.Asp1090Tyr)
c.3283G>T (p.Asp1095Tyr)
c.2857G>T (p.Asp953Tyr)
1g.169541822C>GCA343118769F5c.3268G>C (p.Asp1090His)
c.3283G>C (p.Asp1095His)
c.2857G>C (p.Asp953His)
1g.169541822C>TCA343118770F5c.3268G>A (p.Asp1090Asn)
c.3283G>A (p.Asp1095Asn)
c.2857G>A (p.Asp953Asn)
 gnomAD v4
1g.169541823C>ACA343118775F5c.3267G>T (p.Met1089Ile)
c.3282G>T (p.Met1094Ile)
c.2856G>T (p.Met952Ile)
1g.169541823C>GCA343118772F5c.3267G>C (p.Met1089Ile)
c.3282G>C (p.Met1094Ile)
c.2856G>C (p.Met952Ile)
1g.169541823C>TCA343118773F5c.3267G>A (p.Met1089Ile)
c.3282G>A (p.Met1094Ile)
c.2856G>A (p.Met952Ile)
 gnomAD v4
1g.169541824A=CA1206132468F5c.3266T= (p.Met1089=)
c.3281T= (p.Met1094=)
c.2855T= (p.Met952=)
1g.169541824A>CCA343118777F5c.3266T>G (p.Met1089Arg)
c.3281T>G (p.Met1094Arg)
c.2855T>G (p.Met952Arg)
1g.169541824A>GCA343118779F5c.3266T>C (p.Met1089Thr)
c.3281T>C (p.Met1094Thr)
c.2855T>C (p.Met952Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169541824A>TCA343118780F5c.3266T>A (p.Met1089Lys)
c.3281T>A (p.Met1094Lys)
c.2855T>A (p.Met952Lys)
1g.169541825_169541826delCA2649035357F5c.3265_3266del (p.Met1089GlyfsTer10)
c.3280_3281del (p.Met1094GlyfsTer10)
c.2854_2855del (p.Met952GlyfsTer10)
 gnomAD v4
1g.169541825T>ACA343118782F5c.3265A>T (p.Met1089Leu)
c.3280A>T (p.Met1094Leu)
c.2854A>T (p.Met952Leu)
1g.169541825T>CCA1233937F5c.3265A>G (p.Met1089Val)
c.3280A>G (p.Met1094Val)
c.2854A>G (p.Met952Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541825T>GCA343118784F5c.3265A>C (p.Met1089Leu)
c.3280A>C (p.Met1094Leu)
c.2854A>C (p.Met952Leu)
1g.169541825T=CA1206132469F5c.3265A= (p.Met1089=)
c.3280A= (p.Met1094=)
c.2854A= (p.Met952=)
1g.169541826A=CA1206132471F5c.3264T= (p.Ser1088=)
c.3279T= (p.Ser1093=)
c.2853T= (p.Ser951=)
1g.169541826A>CCA421930694F5c.3264T>G (p.Ser1088=)
c.3279T>G (p.Ser1093=)
c.2853T>G (p.Ser951=)
1g.169541826A>GCA421930695F5c.3264T>C (p.Ser1088=)
c.3279T>C (p.Ser1093=)
c.2853T>C (p.Ser951=)
 gnomAD v4
1g.169541826A>TCA421930696F5c.3264T>A (p.Ser1088=)
c.3279T>A (p.Ser1093=)
c.2853T>A (p.Ser951=)
 dbSNP gnomAD v2
1g.169541827G>ACA343118786F5c.3263C>T (p.Ser1088Phe)
c.3278C>T (p.Ser1093Phe)
c.2852C>T (p.Ser951Phe)
1g.169541827G>CCA1233938F5c.3263C>G (p.Ser1088Cys)
c.3278C>G (p.Ser1093Cys)
c.2852C>G (p.Ser951Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169541827G=CA1149138072F5c.3263C= (p.Ser1088=)
c.3278C= (p.Ser1093=)
c.2852C= (p.Ser951=)
1g.169541827G>TCA343118788F5c.3263C>A (p.Ser1088Tyr)
c.3278C>A (p.Ser1093Tyr)
c.2852C>A (p.Ser951Tyr)
1g.169541828A>CCA343118790F5c.3262T>G (p.Ser1088Ala)
c.3277T>G (p.Ser1093Ala)
c.2851T>G (p.Ser951Ala)
1g.169541828A>GCA343118791F5c.3262T>C (p.Ser1088Pro)
c.3277T>C (p.Ser1093Pro)
c.2851T>C (p.Ser951Pro)
 gnomAD v4
1g.169541828A>TCA343118792F5c.3262T>A (p.Ser1088Thr)
c.3277T>A (p.Ser1093Thr)
c.2851T>A (p.Ser951Thr)
1g.169541829G>ACA421930701F5c.3261C>T (p.Pro1087=)
c.3276C>T (p.Pro1092=)
c.2850C>T (p.Pro950=)
1g.169541829G>CCA10608718F5c.3261C>G (p.Pro1087=)
c.3276C>G (p.Pro1092=)
c.2850C>G (p.Pro950=)
 ClinVar dbSNP gnomAD v4
1g.169541829G=CA1206132474F5c.3261C= (p.Pro1087=)
c.3276C= (p.Pro1092=)
c.2850C= (p.Pro950=)
1g.169541829G>TCA421930703F5c.3261C>A (p.Pro1087=)
c.3276C>A (p.Pro1092=)
c.2850C>A (p.Pro950=)
1g.169541830G>ACA343118793F5c.3260C>T (p.Pro1087Leu)
c.3275C>T (p.Pro1092Leu)
c.2849C>T (p.Pro950Leu)
 gnomAD v4
1g.169541830G>CCA343118796F5c.3260C>G (p.Pro1087Arg)
c.3275C>G (p.Pro1092Arg)
c.2849C>G (p.Pro950Arg)
1g.169541830G>TCA343118794F5c.3260C>A (p.Pro1087His)
c.3275C>A (p.Pro1092His)
c.2849C>A (p.Pro950His)
1g.169541831G>ACA1233939F5c.3259C>T (p.Pro1087Ser)
c.3274C>T (p.Pro1092Ser)
c.2848C>T (p.Pro950Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169541831G>CCA343118798F5c.3259C>G (p.Pro1087Ala)
c.3274C>G (p.Pro1092Ala)
c.2848C>G (p.Pro950Ala)
1g.169541831G=CA1206132475F5c.3259C= (p.Pro1087=)
c.3274C= (p.Pro1092=)
c.2848C= (p.Pro950=)
1g.169541831G>TCA343118800F5c.3259C>A (p.Pro1087Thr)
c.3274C>A (p.Pro1092Thr)
c.2848C>A (p.Pro950Thr)
1g.169541832C>ACA343118802F5c.3258G>T (p.Leu1086Phe)
c.3273G>T (p.Leu1091Phe)
c.2847G>T (p.Leu949Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.169541832C=CA1206132477F5c.3258G= (p.Leu1086=)
c.3273G= (p.Leu1091=)
c.2847G= (p.Leu949=)
1g.169541832C>GCA343118804F5c.3258G>C (p.Leu1086Phe)
c.3273G>C (p.Leu1091Phe)
c.2847G>C (p.Leu949Phe)
1g.169541832C>TCA1233940F5c.3258G>A (p.Leu1086=)
c.3273G>A (p.Leu1091=)
c.2847G>A (p.Leu949=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169541833A=CA1141529190F5c.3257T= (p.Leu1086=)
c.3272T= (p.Leu1091=)
c.2846T= (p.Leu949=)
1g.169541833A>CCA343118806F5c.3257T>G (p.Leu1086Trp)
c.3272T>G (p.Leu1091Trp)
c.2846T>G (p.Leu949Trp)
 dbSNP gnomAD v3 gnomAD v4
1g.169541833A>GCA1233941F5c.3257T>C (p.Leu1086Ser)
c.3272T>C (p.Leu1091Ser)
c.2846T>C (p.Leu949Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541833A>TCA343118808F5c.3257T>A (p.Leu1086Ter)
c.3272T>A (p.Leu1091Ter)
c.2846T>A (p.Leu949Ter)
1g.169541834A>CCA343118810F5c.3256T>G (p.Leu1086Val)
c.3271T>G (p.Leu1091Val)
c.2845T>G (p.Leu949Val)
1g.169541834A>GCA421930708F5c.3256T>C (p.Leu1086=)
c.3271T>C (p.Leu1091=)
c.2845T>C (p.Leu949=)
1g.169541834A>TCA343118812F5c.3256T>A (p.Leu1086Met)
c.3271T>A (p.Leu1091Met)
c.2845T>A (p.Leu949Met)
1g.169541835T>ACA421930710F5c.3255A>T (p.Thr1085=)
c.3270A>T (p.Thr1090=)
c.2844A>T (p.Thr948=)
1g.169541835T>CCA32385355F5c.3255A>G (p.Thr1085=)
c.3270A>G (p.Thr1090=)
c.2844A>G (p.Thr948=)
 ClinVar dbSNP
1g.169541835T>GCA1233942F5c.3255A>C (p.Thr1085=)
c.3270A>C (p.Thr1090=)
c.2844A>C (p.Thr948=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541835T=CA1139773060F5c.3255A= (p.Thr1085=)
c.3270A= (p.Thr1090=)
c.2844A= (p.Thr948=)
1g.169541836G>ACA343118818F5c.3254C>T (p.Thr1085Ile)
c.3269C>T (p.Thr1090Ile)
c.2843C>T (p.Thr948Ile)
 gnomAD v4
1g.169541836G>CCA343118815F5c.3254C>G (p.Thr1085Arg)
c.3269C>G (p.Thr1090Arg)
c.2843C>G (p.Thr948Arg)
1g.169541836G>TCA343118817F5c.3254C>A (p.Thr1085Lys)
c.3269C>A (p.Thr1090Lys)
c.2843C>A (p.Thr948Lys)
1g.169541837T>ACA1233943F5c.3253A>T (p.Thr1085Ser)
c.3268A>T (p.Thr1090Ser)
c.2842A>T (p.Thr948Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541837T>CCA343118821F5c.3253A>G (p.Thr1085Ala)
c.3268A>G (p.Thr1090Ala)
c.2842A>G (p.Thr948Ala)
1g.169541837T>GCA343118823F5c.3253A>C (p.Thr1085Pro)
c.3268A>C (p.Thr1090Pro)
c.2842A>C (p.Thr948Pro)
1g.169541837T=CA1206132482F5c.3253A= (p.Thr1085=)
c.3268A= (p.Thr1090=)
c.2842A= (p.Thr948=)
1g.169541838C>ACA343118825F5c.3252G>T (p.Gln1084His)
c.3267G>T (p.Gln1089His)
c.2841G>T (p.Gln947His)
1g.169541838C=CA1206132483F5c.3252G= (p.Gln1084=)
c.3267G= (p.Gln1089=)
c.2841G= (p.Gln947=)
1g.169541838C>GCA343118827F5c.3252G>C (p.Gln1084His)
c.3267G>C (p.Gln1089His)
c.2841G>C (p.Gln947His)
1g.169541838C>TCA1233944F5c.3252G>A (p.Gln1084=)
c.3267G>A (p.Gln1089=)
c.2841G>A (p.Gln947=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541839T>ACA343118829F5c.3251A>T (p.Gln1084Leu)
c.3266A>T (p.Gln1089Leu)
c.2840A>T (p.Gln947Leu)
1g.169541839T>CCA343118831F5c.3251A>G (p.Gln1084Arg)
c.3266A>G (p.Gln1089Arg)
c.2840A>G (p.Gln947Arg)
1g.169541839T>GCA343118833F5c.3251A>C (p.Gln1084Pro)
c.3266A>C (p.Gln1089Pro)
c.2840A>C (p.Gln947Pro)
1g.169541840G>ACA343118834F5c.3250C>T (p.Gln1084Ter)
c.3265C>T (p.Gln1089Ter)
c.2839C>T (p.Gln947Ter)
1g.169541840G>CCA343118836F5c.3250C>G (p.Gln1084Glu)
c.3265C>G (p.Gln1089Glu)
c.2839C>G (p.Gln947Glu)
 dbSNP gnomAD v4
1g.169541840G=CA1206132485F5c.3250C= (p.Gln1084=)
c.3265C= (p.Gln1089=)
c.2839C= (p.Gln947=)
1g.169541840G>TCA343118838F5c.3250C>A (p.Gln1084Lys)
c.3265C>A (p.Gln1089Lys)
c.2839C>A (p.Gln947Lys)
1g.169541841A>CCA343118839F5c.3249T>G (p.Asn1083Lys)
c.3264T>G (p.Asn1088Lys)
c.2838T>G (p.Asn946Lys)
1g.169541841A>GCA421930721F5c.3249T>C (p.Asn1083=)
c.3264T>C (p.Asn1088=)
c.2838T>C (p.Asn946=)
1g.169541841A>TCA343118841F5c.3249T>A (p.Asn1083Lys)
c.3264T>A (p.Asn1088Lys)
c.2838T>A (p.Asn946Lys)
1g.169541842T>ACA343118843F5c.3248A>T (p.Asn1083Ile)
c.3263A>T (p.Asn1088Ile)
c.2837A>T (p.Asn946Ile)
1g.169541842T>CCA343118846F5c.3248A>G (p.Asn1083Ser)
c.3263A>G (p.Asn1088Ser)
c.2837A>G (p.Asn946Ser)
 dbSNP gnomAD v4
1g.169541842T>GCA343118845F5c.3248A>C (p.Asn1083Thr)
c.3263A>C (p.Asn1088Thr)
c.2837A>C (p.Asn946Thr)
1g.169541842T=CA1206132487F5c.3248A= (p.Asn1083=)
c.3263A= (p.Asn1088=)
c.2837A= (p.Asn946=)
1g.169541843T>ACA343118848F5c.3247A>T (p.Asn1083Tyr)
c.3262A>T (p.Asn1088Tyr)
c.2836A>T (p.Asn946Tyr)
 gnomAD v4
1g.169541843T>CCA343118850F5c.3247A>G (p.Asn1083Asp)
c.3262A>G (p.Asn1088Asp)
c.2836A>G (p.Asn946Asp)
1g.169541843T>GCA343118852F5c.3247A>C (p.Asn1083His)
c.3262A>C (p.Asn1088His)
c.2836A>C (p.Asn946His)
 gnomAD v4
1g.169541844G>ACA421930723F5c.3246C>T (p.Leu1082=)
c.3261C>T (p.Leu1087=)
c.2835C>T (p.Leu945=)
1g.169541844G>CCA421930724F5c.3246C>G (p.Leu1082=)
c.3261C>G (p.Leu1087=)
c.2835C>G (p.Leu945=)
1g.169541844G>TCA421930726F5c.3246C>A (p.Leu1082=)
c.3261C>A (p.Leu1087=)
c.2835C>A (p.Leu945=)
1g.169541845A>CCA343118854F5c.3245T>G (p.Leu1082Arg)
c.3260T>G (p.Leu1087Arg)
c.2834T>G (p.Leu945Arg)
1g.169541845A>GCA343118856F5c.3245T>C (p.Leu1082Pro)
c.3260T>C (p.Leu1087Pro)
c.2834T>C (p.Leu945Pro)
1g.169541845A>TCA343118857F5c.3245T>A (p.Leu1082His)
c.3260T>A (p.Leu1087His)
c.2834T>A (p.Leu945His)
1g.169541846G>ACA343118859F5c.3244C>T (p.Leu1082Phe)
c.3259C>T (p.Leu1087Phe)
c.2833C>T (p.Leu945Phe)
1g.169541846G>CCA343118861F5c.3244C>G (p.Leu1082Val)
c.3259C>G (p.Leu1087Val)
c.2833C>G (p.Leu945Val)
 dbSNP gnomAD v4
1g.169541846G=CA1206132488F5c.3244C= (p.Leu1082=)
c.3259C= (p.Leu1087=)
c.2833C= (p.Leu945=)
1g.169541846G>TCA343118862F5c.3244C>A (p.Leu1082Ile)
c.3259C>A (p.Leu1087Ile)
c.2833C>A (p.Leu945Ile)
1g.169541847G>ACA1233945F5c.3243C>T (p.Asp1081=)
c.3258C>T (p.Asp1086=)
c.2832C>T (p.Asp944=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.169541847G>CCA343118865F5c.3243C>G (p.Asp1081Glu)
c.3258C>G (p.Asp1086Glu)
c.2832C>G (p.Asp944Glu)
1g.169541847G=CA1141733277F5c.3243C= (p.Asp1081=)
c.3258C= (p.Asp1086=)
c.2832C= (p.Asp944=)
1g.169541847G>TCA343118867F5c.3243C>A (p.Asp1081Glu)
c.3258C>A (p.Asp1086Glu)
c.2832C>A (p.Asp944Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.169541848T>ACA343118872F5c.3242A>T (p.Asp1081Val)
c.3257A>T (p.Asp1086Val)
c.2831A>T (p.Asp944Val)
1g.169541848T>CCA343118871F5c.3242A>G (p.Asp1081Gly)
c.3257A>G (p.Asp1086Gly)
c.2831A>G (p.Asp944Gly)
1g.169541848T>GCA343118869F5c.3242A>C (p.Asp1081Ala)
c.3257A>C (p.Asp1086Ala)
c.2831A>C (p.Asp944Ala)
1g.169541849C>ACA343118874F5c.3241G>T (p.Asp1081Tyr)
c.3256G>T (p.Asp1086Tyr)
c.2830G>T (p.Asp944Tyr)
1g.169541849C>GCA343118876F5c.3241G>C (p.Asp1081His)
c.3256G>C (p.Asp1086His)
c.2830G>C (p.Asp944His)
1g.169541849C>TCA343118878F5c.3241G>A (p.Asp1081Asn)
c.3256G>A (p.Asp1086Asn)
c.2830G>A (p.Asp944Asn)
1g.169541850T>ACA421930732F5c.3240A>T (p.Thr1080=)
c.3255A>T (p.Thr1085=)
c.2829A>T (p.Thr943=)
1g.169541850T>CCA421930733F5c.3240A>G (p.Thr1080=)
c.3255A>G (p.Thr1085=)
c.2829A>G (p.Thr943=)
 gnomAD v4
1g.169541850T>GCA421930735F5c.3240A>C (p.Thr1080=)
c.3255A>C (p.Thr1085=)
c.2829A>C (p.Thr943=)
1g.169541851G>ACA1233946F5c.3239C>T (p.Thr1080Ile)
c.3254C>T (p.Thr1085Ile)
c.2828C>T (p.Thr943Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541851G>CCA343118880F5c.3239C>G (p.Thr1080Arg)
c.3254C>G (p.Thr1085Arg)
c.2828C>G (p.Thr943Arg)
1g.169541851G=CA1144136025F5c.3239C= (p.Thr1080=)
c.3254C= (p.Thr1085=)
c.2828C= (p.Thr943=)
1g.169541851G>TCA343118882F5c.3239C>A (p.Thr1080Lys)
c.3254C>A (p.Thr1085Lys)
c.2828C>A (p.Thr943Lys)
1g.169541852T>ACA343118884F5c.3238A>T (p.Thr1080Ser)
c.3253A>T (p.Thr1085Ser)
c.2827A>T (p.Thr943Ser)
1g.169541852T>CCA343118886F5c.3238A>G (p.Thr1080Ala)
c.3253A>G (p.Thr1085Ala)
c.2827A>G (p.Thr943Ala)
 gnomAD v4
1g.169541852T>GCA343118888F5c.3238A>C (p.Thr1080Pro)
c.3253A>C (p.Thr1085Pro)
c.2827A>C (p.Thr943Pro)
1g.169541853G>ACA421930738F5c.3237C>T (p.Pro1079=)
c.3252C>T (p.Pro1084=)
c.2826C>T (p.Pro942=)
 dbSNP
1g.169541853G>CCA421930736F5c.3237C>G (p.Pro1079=)
c.3252C>G (p.Pro1084=)
c.2826C>G (p.Pro942=)
1g.169541853G=CA1206132491F5c.3237C= (p.Pro1079=)
c.3252C= (p.Pro1084=)
c.2826C= (p.Pro942=)
1g.169541853G>TCA421930737F5c.3237C>A (p.Pro1079=)
c.3252C>A (p.Pro1084=)
c.2826C>A (p.Pro942=)
1g.169541854G>ACA343118890F5c.3236C>T (p.Pro1079Leu)
c.3251C>T (p.Pro1084Leu)
c.2825C>T (p.Pro942Leu)
1g.169541854G>CCA343118892F5c.3236C>G (p.Pro1079Arg)
c.3251C>G (p.Pro1084Arg)
c.2825C>G (p.Pro942Arg)
1g.169541854G>TCA343118894F5c.3236C>A (p.Pro1079His)
c.3251C>A (p.Pro1084His)
c.2825C>A (p.Pro942His)
1g.169541855G>ACA343118898F5c.3235C>T (p.Pro1079Ser)
c.3250C>T (p.Pro1084Ser)
c.2824C>T (p.Pro942Ser)
 gnomAD v4 COSMIC
1g.169541855G>CCA343118897F5c.3235C>G (p.Pro1079Ala)
c.3250C>G (p.Pro1084Ala)
c.2824C>G (p.Pro942Ala)
 gnomAD v4
1g.169541855G>TCA343118895F5c.3235C>A (p.Pro1079Thr)
c.3250C>A (p.Pro1084Thr)
c.2824C>A (p.Pro942Thr)
1g.169541856A=CA1206132492F5c.3234T= (p.Leu1078=)
c.3249T= (p.Leu1083=)
c.2823T= (p.Leu941=)
1g.169541856A>CCA421930742F5c.3234T>G (p.Leu1078=)
c.3249T>G (p.Leu1083=)
c.2823T>G (p.Leu941=)
1g.169541856A>GCA421930743F5c.3234T>C (p.Leu1078=)
c.3249T>C (p.Leu1083=)
c.2823T>C (p.Leu941=)
 ClinVar dbSNP gnomAD v4
1g.169541856A>TCA421930744F5c.3234T>A (p.Leu1078=)
c.3249T>A (p.Leu1083=)
c.2823T>A (p.Leu941=)
1g.169541857A>CCA343118901F5c.3233T>G (p.Leu1078Arg)
c.3248T>G (p.Leu1083Arg)
c.2822T>G (p.Leu941Arg)
 gnomAD v4
1g.169541857A>GCA343118902F5c.3233T>C (p.Leu1078Pro)
c.3248T>C (p.Leu1083Pro)
c.2822T>C (p.Leu941Pro)
1g.169541857A>TCA343118904F5c.3233T>A (p.Leu1078His)
c.3248T>A (p.Leu1083His)
c.2822T>A (p.Leu941His)
1g.169541858G>ACA343118906F5c.3232C>T (p.Leu1078Phe)
c.3247C>T (p.Leu1083Phe)
c.2821C>T (p.Leu941Phe)
1g.169541858G>CCA343118908F5c.3232C>G (p.Leu1078Val)
c.3247C>G (p.Leu1083Val)
c.2821C>G (p.Leu941Val)
1g.169541858G>TCA343118909F5c.3232C>A (p.Leu1078Ile)
c.3247C>A (p.Leu1083Ile)
c.2821C>A (p.Leu941Ile)
1g.169541859A>CCA421930749F5c.3231T>G (p.Ser1077=)
c.3246T>G (p.Ser1082=)
c.2820T>G (p.Ser940=)
1g.169541859A>GCA421930748F5c.3231T>C (p.Ser1077=)
c.3246T>C (p.Ser1082=)
c.2820T>C (p.Ser940=)
1g.169541859A>TCA421930751F5c.3231T>A (p.Ser1077=)
c.3246T>A (p.Ser1082=)
c.2820T>A (p.Ser940=)
1g.169541860G>ACA343118911F5c.3230C>T (p.Ser1077Phe)
c.3245C>T (p.Ser1082Phe)
c.2819C>T (p.Ser940Phe)
1g.169541860G>CCA1233947F5c.3230C>G (p.Ser1077Cys)
c.3245C>G (p.Ser1082Cys)
c.2819C>G (p.Ser940Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169541860G=CA1206132494F5c.3230C= (p.Ser1077=)
c.3245C= (p.Ser1082=)
c.2819C= (p.Ser940=)
1g.169541860G>TCA343118913F5c.3230C>A (p.Ser1077Tyr)
c.3245C>A (p.Ser1082Tyr)
c.2819C>A (p.Ser940Tyr)
1g.169541861A=CA1206132495F5c.3229T= (p.Ser1077=)
c.3244T= (p.Ser1082=)
c.2818T= (p.Ser940=)
1g.169541861A>CCA343118916F5c.3229T>G (p.Ser1077Ala)
c.3244T>G (p.Ser1082Ala)
c.2818T>G (p.Ser940Ala)
1g.169541861A>GCA343118918F5c.3229T>C (p.Ser1077Pro)
c.3244T>C (p.Ser1082Pro)
c.2818T>C (p.Ser940Pro)
 dbSNP gnomAD v4
1g.169541861A>TCA343118919F5c.3229T>A (p.Ser1077Thr)
c.3244T>A (p.Ser1082Thr)
c.2818T>A (p.Ser940Thr)
 gnomAD v4
1g.169541862T>ACA421930753F5c.3228A>T (p.Thr1076=)
c.3243A>T (p.Thr1081=)
c.2817A>T (p.Thr939=)
 dbSNP
1g.169541862T>CCA421930755F5c.3228A>G (p.Thr1076=)
c.3243A>G (p.Thr1081=)
c.2817A>G (p.Thr939=)
 dbSNP gnomAD v2 gnomAD v4
1g.169541862T>GCA421930757F5c.3228A>C (p.Thr1076=)
c.3243A>C (p.Thr1081=)
c.2817A>C (p.Thr939=)
1g.169541862T=CA1206132497F5c.3228A= (p.Thr1076=)
c.3243A= (p.Thr1081=)
c.2817A= (p.Thr939=)
1g.169541863_169541864delCA2649035386F5c.3227_3228del (p.Thr1076IlefsTer23)
c.3242_3243del (p.Thr1081IlefsTer23)
c.2816_2817del (p.Thr939IlefsTer23)
 gnomAD v4
1g.169541863delCA2649035390F5c.3227del (p.Thr1076AsnfsTer19)
c.3242del (p.Thr1081AsnfsTer19)
c.2816del (p.Thr939AsnfsTer19)
 gnomAD v4
1g.169541863G>ACA343118922F5c.3227C>T (p.Thr1076Ile)
c.3242C>T (p.Thr1081Ile)
c.2816C>T (p.Thr939Ile)
 gnomAD v4
1g.169541863G>CCA343118923F5c.3227C>G (p.Thr1076Arg)
c.3242C>G (p.Thr1081Arg)
c.2816C>G (p.Thr939Arg)
1g.169541863G>TCA343118921F5c.3227C>A (p.Thr1076Lys)
c.3242C>A (p.Thr1081Lys)
c.2816C>A (p.Thr939Lys)
1g.169541864T>ACA343118925F5c.3226A>T (p.Thr1076Ser)
c.3241A>T (p.Thr1081Ser)
c.2815A>T (p.Thr939Ser)
 dbSNP
1g.169541864T>CCA343118927F5c.3226A>G (p.Thr1076Ala)
c.3241A>G (p.Thr1081Ala)
c.2815A>G (p.Thr939Ala)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.169541864T>GCA343118929F5c.3226A>C (p.Thr1076Pro)
c.3241A>C (p.Thr1081Pro)
c.2815A>C (p.Thr939Pro)
1g.169541864T=CA1206132499F5c.3226A= (p.Thr1076=)
c.3241A= (p.Thr1081=)
c.2815A= (p.Thr939=)
1g.169541865T>ACA343118930F5c.3225A>T (p.Glu1075Asp)
c.3240A>T (p.Glu1080Asp)
c.2814A>T (p.Glu938Asp)
1g.169541865T>CCA421930759F5c.3225A>G (p.Glu1075=)
c.3240A>G (p.Glu1080=)
c.2814A>G (p.Glu938=)
 gnomAD v4
1g.169541865T>GCA343118932F5c.3225A>C (p.Glu1075Asp)
c.3240A>C (p.Glu1080Asp)
c.2814A>C (p.Glu938Asp)
1g.169541866T>ACA343118936F5c.3224A>T (p.Glu1075Val)
c.3239A>T (p.Glu1080Val)
c.2813A>T (p.Glu938Val)
1g.169541866T>CCA343118933F5c.3224A>G (p.Glu1075Gly)
c.3239A>G (p.Glu1080Gly)
c.2813A>G (p.Glu938Gly)
1g.169541866T>GCA343118934F5c.3224A>C (p.Glu1075Ala)
c.3239A>C (p.Glu1080Ala)
c.2813A>C (p.Glu938Ala)
1g.169541867C>ACA343118938F5c.3223G>T (p.Glu1075Ter)
c.3238G>T (p.Glu1080Ter)
c.2812G>T (p.Glu938Ter)
1g.169541867C>GCA343118940F5c.3223G>C (p.Glu1075Gln)
c.3238G>C (p.Glu1080Gln)
c.2812G>C (p.Glu938Gln)
1g.169541867C>TCA343118941F5c.3223G>A (p.Glu1075Lys)
c.3238G>A (p.Glu1080Lys)
c.2812G>A (p.Glu938Lys)
1g.169541868A>CCA343118943F5c.3222T>G (p.Asn1074Lys)
c.3237T>G (p.Asn1079Lys)
c.2811T>G (p.Asn937Lys)
1g.169541868A>GCA421930765F5c.3222T>C (p.Asn1074=)
c.3237T>C (p.Asn1079=)
c.2811T>C (p.Asn937=)
1g.169541868A>TCA343118945F5c.3222T>A (p.Asn1074Lys)
c.3237T>A (p.Asn1079Lys)
c.2811T>A (p.Asn937Lys)
1g.169541869T>ACA343118947F5c.3221A>T (p.Asn1074Ile)
c.3236A>T (p.Asn1079Ile)
c.2810A>T (p.Asn937Ile)
 gnomAD v4
1g.169541869T>CCA1233948F5c.3221A>G (p.Asn1074Ser)
c.3236A>G (p.Asn1079Ser)
c.2810A>G (p.Asn937Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.169541869T>GCA343118949F5c.3221A>C (p.Asn1074Thr)
c.3236A>C (p.Asn1079Thr)
c.2810A>C (p.Asn937Thr)
1g.169541869T=CA1143406949F5c.3221A= (p.Asn1074=)
c.3236A= (p.Asn1079=)
c.2810A= (p.Asn937=)
1g.169541870T>ACA1233950F5c.3220A>T (p.Asn1074Tyr)
c.3235A>T (p.Asn1079Tyr)
c.2809A>T (p.Asn937Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169541870T>CCA1233949F5c.3220A>G (p.Asn1074Asp)
c.3235A>G (p.Asn1079Asp)
c.2809A>G (p.Asn937Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541870T>GCA343118952F5c.3220A>C (p.Asn1074His)
c.3235A>C (p.Asn1079His)
c.2809A>C (p.Asn937His)
1g.169541870T=CA1143672666F5c.3220A= (p.Asn1074=)
c.3235A= (p.Asn1079=)
c.2809A= (p.Asn937=)
1g.169541871G>ACA1233951F5c.3219C>T (p.Ser1073=)
c.3234C>T (p.Ser1078=)
c.2808C>T (p.Ser936=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.169541871G>CCA421930771F5c.3219C>G (p.Ser1073=)
c.3234C>G (p.Ser1078=)
c.2808C>G (p.Ser936=)
1g.169541871G=CA1206132502F5c.3219C= (p.Ser1073=)
c.3234C= (p.Ser1078=)
c.2808C= (p.Ser936=)
1g.169541871G>TCA421930773F5c.3219C>A (p.Ser1073=)
c.3234C>A (p.Ser1078=)
c.2808C>A (p.Ser936=)
1g.169541872G>ACA343118954F5c.3218C>T (p.Ser1073Phe)
c.3233C>T (p.Ser1078Phe)
c.2807C>T (p.Ser936Phe)
1g.169541872G>CCA343118956F5c.3218C>G (p.Ser1073Cys)
c.3233C>G (p.Ser1078Cys)
c.2807C>G (p.Ser936Cys)
1g.169541872G>TCA343118958F5c.3218C>A (p.Ser1073Tyr)
c.3233C>A (p.Ser1078Tyr)
c.2807C>A (p.Ser936Tyr)
1g.169541873A>CCA343118960F5c.3217T>G (p.Ser1073Ala)
c.3232T>G (p.Ser1078Ala)
c.2806T>G (p.Ser936Ala)
1g.169541873A>GCA343118961F5c.3217T>C (p.Ser1073Pro)
c.3232T>C (p.Ser1078Pro)
c.2806T>C (p.Ser936Pro)
1g.169541873A>TCA343118963F5c.3217T>A (p.Ser1073Thr)
c.3232T>A (p.Ser1078Thr)
c.2806T>A (p.Ser936Thr)
1g.169541874T>ACA343118965F5c.3216A>T (p.Lys1072Asn)
c.3231A>T (p.Lys1077Asn)
c.2805A>T (p.Lys935Asn)
1g.169541874T>CCA421930777F5c.3216A>G (p.Lys1072=)
c.3231A>G (p.Lys1077=)
c.2805A>G (p.Lys935=)
1g.169541874T>GCA343118966F5c.3216A>C (p.Lys1072Asn)
c.3231A>C (p.Lys1077Asn)
c.2805A>C (p.Lys935Asn)
1g.169541875T>ACA343118969F5c.3215A>T (p.Lys1072Ile)
c.3230A>T (p.Lys1077Ile)
c.2804A>T (p.Lys935Ile)
1g.169541875T>CCA343118970F5c.3215A>G (p.Lys1072Arg)
c.3230A>G (p.Lys1077Arg)
c.2804A>G (p.Lys935Arg)
1g.169541875T>GCA343118971F5c.3215A>C (p.Lys1072Thr)
c.3230A>C (p.Lys1077Thr)
c.2804A>C (p.Lys935Thr)
1g.169541876T>ACA343118972F5c.3214A>T (p.Lys1072Ter)
c.3229A>T (p.Lys1077Ter)
c.2803A>T (p.Lys935Ter)
1g.169541876T>CCA343118973F5c.3214A>G (p.Lys1072Glu)
c.3229A>G (p.Lys1077Glu)
c.2803A>G (p.Lys935Glu)
1g.169541876T>GCA343118974F5c.3214A>C (p.Lys1072Gln)
c.3229A>C (p.Lys1077Gln)
c.2803A>C (p.Lys935Gln)
1g.169541877A=CA1206132504F5c.3213T= (p.His1071=)
c.3228T= (p.His1076=)
c.2802T= (p.His934=)
1g.169541877A>CCA343118976F5c.3213T>G (p.His1071Gln)
c.3228T>G (p.His1076Gln)
c.2802T>G (p.His934Gln)
1g.169541877A>GCA421930780F5c.3213T>C (p.His1071=)
c.3228T>C (p.His1076=)
c.2802T>C (p.His934=)
 dbSNP
1g.169541877A>TCA343118977F5c.3213T>A (p.His1071Gln)
c.3228T>A (p.His1076Gln)
c.2802T>A (p.His934Gln)
1g.169541878T>ACA343118979F5c.3212A>T (p.His1071Leu)
c.3227A>T (p.His1076Leu)
c.2801A>T (p.His934Leu)
 COSMIC
1g.169541878T>CCA343118981F5c.3212A>G (p.His1071Arg)
c.3227A>G (p.His1076Arg)
c.2801A>G (p.His934Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.169541878T>GCA343118983F5c.3212A>C (p.His1071Pro)
c.3227A>C (p.His1076Pro)
c.2801A>C (p.His934Pro)
 dbSNP
1g.169541878T=CA1206132505F5c.3212A= (p.His1071=)
c.3227A= (p.His1076=)
c.2801A= (p.His934=)
1g.169541879G>ACA1233952F5c.3211C>T (p.His1071Tyr)
c.3226C>T (p.His1076Tyr)
c.2800C>T (p.His934Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541879G>CCA343118986F5c.3211C>G (p.His1071Asp)
c.3226C>G (p.His1076Asp)
c.2800C>G (p.His934Asp)
1g.169541879G=CA1142114343F5c.3211C= (p.His1071=)
c.3226C= (p.His1076=)
c.2800C= (p.His934=)
1g.169541879G>TCA343118988F5c.3211C>A (p.His1071Asn)
c.3226C>A (p.His1076Asn)
c.2800C>A (p.His934Asn)
1g.169541880A>CCA421930789F5c.3210T>G (p.Leu1070=)
c.3225T>G (p.Leu1075=)
c.2799T>G (p.Leu933=)
1g.169541880A>GCA421930788F5c.3210T>C (p.Leu1070=)
c.3225T>C (p.Leu1075=)
c.2799T>C (p.Leu933=)
1g.169541880A>TCA421930787F5c.3210T>A (p.Leu1070=)
c.3225T>A (p.Leu1075=)
c.2799T>A (p.Leu933=)
1g.169541881A>CCA343118990F5c.3209T>G (p.Leu1070Arg)
c.3224T>G (p.Leu1075Arg)
c.2798T>G (p.Leu933Arg)
1g.169541881A>GCA343118992F5c.3209T>C (p.Leu1070Pro)
c.3224T>C (p.Leu1075Pro)
c.2798T>C (p.Leu933Pro)
1g.169541881A>TCA343118993F5c.3209T>A (p.Leu1070His)
c.3224T>A (p.Leu1075His)
c.2798T>A (p.Leu933His)
1g.169541882G>ACA343118996F5c.3208C>T (p.Leu1070Phe)
c.3223C>T (p.Leu1075Phe)
c.2797C>T (p.Leu933Phe)
 gnomAD v4
1g.169541882G>CCA343118998F5c.3208C>G (p.Leu1070Val)
c.3223C>G (p.Leu1075Val)
c.2797C>G (p.Leu933Val)
1g.169541882G>TCA343118999F5c.3208C>A (p.Leu1070Ile)
c.3223C>A (p.Leu1075Ile)
c.2797C>A (p.Leu933Ile)
1g.169541883C>ACA421930795F5c.3207G>T (p.Val1069=)
c.3222G>T (p.Val1074=)
c.2796G>T (p.Val932=)
1g.169541883C>GCA421930793F5c.3207G>C (p.Val1069=)
c.3222G>C (p.Val1074=)
c.2796G>C (p.Val932=)
1g.169541883C>TCA421930792F5c.3207G>A (p.Val1069=)
c.3222G>A (p.Val1074=)
c.2796G>A (p.Val932=)
1g.169541884A>CCA343119000F5c.3206T>G (p.Val1069Gly)
c.3221T>G (p.Val1074Gly)
c.2795T>G (p.Val932Gly)
1g.169541884A>GCA343119003F5c.3206T>C (p.Val1069Ala)
c.3221T>C (p.Val1074Ala)
c.2795T>C (p.Val932Ala)
1g.169541884A>TCA343119002F5c.3206T>A (p.Val1069Glu)
c.3221T>A (p.Val1074Glu)
c.2795T>A (p.Val932Glu)
1g.169541885C>ACA343119006F5c.3205G>T (p.Val1069Leu)
c.3220G>T (p.Val1074Leu)
c.2794G>T (p.Val932Leu)
1g.169541885C=CA1206132508F5c.3205G= (p.Val1069=)
c.3220G= (p.Val1074=)
c.2794G= (p.Val932=)
1g.169541885C>GCA343119007F5c.3205G>C (p.Val1069Leu)
c.3220G>C (p.Val1074Leu)
c.2794G>C (p.Val932Leu)
1g.169541885C>TCA343119008F5c.3205G>A (p.Val1069Met)
c.3220G>A (p.Val1074Met)
c.2794G>A (p.Val932Met)
 dbSNP gnomAD v2
1g.169541886C>ACA343119010F5c.3204G>T (p.Leu1068Phe)
c.3219G>T (p.Leu1073Phe)
c.2793G>T (p.Leu931Phe)
1g.169541886C>GCA343119012F5c.3204G>C (p.Leu1068Phe)
c.3219G>C (p.Leu1073Phe)
c.2793G>C (p.Leu931Phe)
1g.169541886C>TCA421930796F5c.3204G>A (p.Leu1068=)
c.3219G>A (p.Leu1073=)
c.2793G>A (p.Leu931=)
1g.169541887A>CCA343119013F5c.3203T>G (p.Leu1068Trp)
c.3218T>G (p.Leu1073Trp)
c.2792T>G (p.Leu931Trp)
1g.169541887A>GCA343119014F5c.3203T>C (p.Leu1068Ser)
c.3218T>C (p.Leu1073Ser)
c.2792T>C (p.Leu931Ser)
1g.169541887A>TCA343119016F5c.3203T>A (p.Leu1068Ter)
c.3218T>A (p.Leu1073Ter)
c.2792T>A (p.Leu931Ter)
1g.169541888A>CCA343119018F5c.3202T>G (p.Leu1068Val)
c.3217T>G (p.Leu1073Val)
c.2791T>G (p.Leu931Val)
1g.169541888A>GCA421930798F5c.3202T>C (p.Leu1068=)
c.3217T>C (p.Leu1073=)
c.2791T>C (p.Leu931=)
1g.169541888A>TCA343119020F5c.3202T>A (p.Leu1068Met)
c.3217T>A (p.Leu1073Met)
c.2791T>A (p.Leu931Met)
1g.169541889C>ACA421930592F5c.3201G>T (p.Ser1067=)
c.3216G>T (p.Ser1072=)
c.2790G>T (p.Ser930=)
 dbSNP gnomAD v4
1g.169541889C=CA1144554704F5c.3201G= (p.Ser1067=)
c.3216G= (p.Ser1072=)
c.2790G= (p.Ser930=)
1g.169541889C>GCA421930595F5c.3201G>C (p.Ser1067=)
c.3216G>C (p.Ser1072=)
c.2790G>C (p.Ser930=)
1g.169541889C>TCA1233953F5c.3201G>A (p.Ser1067=)
c.3216G>A (p.Ser1072=)
c.2790G>A (p.Ser930=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541890G>ACA32385367F5c.3200C>T (p.Ser1067Leu)
c.3215C>T (p.Ser1072Leu)
c.2789C>T (p.Ser930Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.169541890G>CCA343119025F5c.3200C>G (p.Ser1067Trp)
c.3215C>G (p.Ser1072Trp)
c.2789C>G (p.Ser930Trp)
1g.169541890G=CA1206132510F5c.3200C= (p.Ser1067=)
c.3215C= (p.Ser1072=)
c.2789C= (p.Ser930=)
1g.169541890G>TCA343119023F5c.3200C>A (p.Ser1067Ter)
c.3215C>A (p.Ser1072Ter)
c.2789C>A (p.Ser930Ter)
1g.169541891A>CCA343119027F5c.3199T>G (p.Ser1067Ala)
c.3214T>G (p.Ser1072Ala)
c.2788T>G (p.Ser930Ala)
1g.169541891A>GCA343119029F5c.3199T>C (p.Ser1067Pro)
c.3214T>C (p.Ser1072Pro)
c.2788T>C (p.Ser930Pro)
1g.169541891A>TCA343119030F5c.3199T>A (p.Ser1067Thr)
c.3214T>A (p.Ser1072Thr)
c.2788T>A (p.Ser930Thr)
1g.169541892A>CCA343119032F5c.3198T>G (p.His1066Gln)
c.3213T>G (p.His1071Gln)
c.2787T>G (p.His929Gln)
1g.169541892A>GCA421930603F5c.3198T>C (p.His1066=)
c.3213T>C (p.His1071=)
c.2787T>C (p.His929=)
1g.169541892A>TCA343119034F5c.3198T>A (p.His1066Gln)
c.3213T>A (p.His1071Gln)
c.2787T>A (p.His929Gln)
1g.169541893T>ACA343119036F5c.3197A>T (p.His1066Leu)
c.3212A>T (p.His1071Leu)
c.2786A>T (p.His929Leu)
1g.169541893T>CCA343119037F5c.3197A>G (p.His1066Arg)
c.3212A>G (p.His1071Arg)
c.2786A>G (p.His929Arg)
 gnomAD v4
1g.169541893T>GCA343119039F5c.3197A>C (p.His1066Pro)
c.3212A>C (p.His1071Pro)
c.2786A>C (p.His929Pro)
1g.169541894G>ACA343119041F5c.3196C>T (p.His1066Tyr)
c.3211C>T (p.His1071Tyr)
c.2785C>T (p.His929Tyr)
 dbSNP gnomAD v2 gnomAD v4
1g.169541894G>CCA343119043F5c.3196C>G (p.His1066Asp)
c.3211C>G (p.His1071Asp)
c.2785C>G (p.His929Asp)
1g.169541894G=CA1206132511F5c.3196C= (p.His1066=)
c.3211C= (p.His1071=)
c.2785C= (p.His929=)
1g.169541894G>TCA343119045F5c.3196C>A (p.His1066Asn)
c.3211C>A (p.His1071Asn)
c.2785C>A (p.His929Asn)
1g.169541895C>ACA343119049F5c.3195G>T (p.Lys1065Asn)
c.3210G>T (p.Lys1070Asn)
c.2784G>T (p.Lys928Asn)
1g.169541895C=CA1145958100F5c.3195G= (p.Lys1065=)
c.3210G= (p.Lys1070=)
c.2784G= (p.Lys928=)
1g.169541895C>GCA343119047F5c.3195G>C (p.Lys1065Asn)
c.3210G>C (p.Lys1070Asn)
c.2784G>C (p.Lys928Asn)
1g.169541895C>TCA32385369F5c.3195G>A (p.Lys1065=)
c.3210G>A (p.Lys1070=)
c.2784G>A (p.Lys928=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.169541896T>ACA343119050F5c.3194A>T (p.Lys1065Met)
c.3209A>T (p.Lys1070Met)
c.2783A>T (p.Lys928Met)
1g.169541896T>CCA343119054F5c.3194A>G (p.Lys1065Arg)
c.3209A>G (p.Lys1070Arg)
c.2783A>G (p.Lys928Arg)
1g.169541896T>GCA343119052F5c.3194A>C (p.Lys1065Thr)
c.3209A>C (p.Lys1070Thr)
c.2783A>C (p.Lys928Thr)
1g.169541897T>ACA343119055F5c.3193A>T (p.Lys1065Ter)
c.3208A>T (p.Lys1070Ter)
c.2782A>T (p.Lys928Ter)
1g.169541897T>CCA343119056F5c.3193A>G (p.Lys1065Glu)
c.3208A>G (p.Lys1070Glu)
c.2782A>G (p.Lys928Glu)
1g.169541897T>GCA343119057F5c.3193A>C (p.Lys1065Gln)
c.3208A>C (p.Lys1070Gln)
c.2782A>C (p.Lys928Gln)
1g.169541898A>CCA421930611F5c.3192T>G (p.Leu1064=)
c.3207T>G (p.Leu1069=)
c.2781T>G (p.Leu927=)
1g.169541898A>GCA421930612F5c.3192T>C (p.Leu1064=)
c.3207T>C (p.Leu1069=)
c.2781T>C (p.Leu927=)
1g.169541898A>TCA421930613F5c.3192T>A (p.Leu1064=)
c.3207T>A (p.Leu1069=)
c.2781T>A (p.Leu927=)
1g.169541899A=CA1206132513F5c.3191T= (p.Leu1064=)
c.3206T= (p.Leu1069=)
c.2780T= (p.Leu927=)
1g.169541899A>CCA1233954F5c.3191T>G (p.Leu1064Arg)
c.3206T>G (p.Leu1069Arg)
c.2780T>G (p.Leu927Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169541899A>GCA343119058F5c.3191T>C (p.Leu1064Pro)
c.3206T>C (p.Leu1069Pro)
c.2780T>C (p.Leu927Pro)
1g.169541899A>TCA343119059F5c.3191T>A (p.Leu1064His)
c.3206T>A (p.Leu1069His)
c.2780T>A (p.Leu927His)
1g.169541900G>ACA1233955F5c.3190C>T (p.Leu1064Phe)
c.3205C>T (p.Leu1069Phe)
c.2779C>T (p.Leu927Phe)
 dbSNP ExAC gnomAD v2
1g.169541900G>CCA343119061F5c.3190C>G (p.Leu1064Val)
c.3205C>G (p.Leu1069Val)
c.2779C>G (p.Leu927Val)
1g.169541900G=CA1206132515F5c.3190C= (p.Leu1064=)
c.3205C= (p.Leu1069=)
c.2779C= (p.Leu927=)
1g.169541900G>TCA343119063F5c.3190C>A (p.Leu1064Ile)
c.3205C>A (p.Leu1069Ile)
c.2779C>A (p.Leu927Ile)
1g.169541901T>ACA343119065F5c.3189A>T (p.Arg1063Ser)
c.3204A>T (p.Arg1068Ser)
c.2778A>T (p.Arg926Ser)
1g.169541901T>CCA421930615F5c.3189A>G (p.Arg1063=)
c.3204A>G (p.Arg1068=)
c.2778A>G (p.Arg926=)
1g.169541901T>GCA343119066F5c.3189A>C (p.Arg1063Ser)
c.3204A>C (p.Arg1068Ser)
c.2778A>C (p.Arg926Ser)
1g.169541905_169541907delCA2649035426F5c.3187_3189del (p.Arg1063del)
c.3202_3204del (p.Arg1068del)
c.2776_2778del (p.Arg926del)
 gnomAD v4
1g.169541902C>ACA343119072F5c.3188G>T (p.Arg1063Ile)
c.3203G>T (p.Arg1068Ile)
c.2777G>T (p.Arg926Ile)
1g.169541902C=CA1206132517F5c.3188G= (p.Arg1063=)
c.3203G= (p.Arg1068=)
c.2777G= (p.Arg926=)
1g.169541902C>GCA343119069F5c.3188G>C (p.Arg1063Thr)
c.3203G>C (p.Arg1068Thr)
c.2777G>C (p.Arg926Thr)
 dbSNP gnomAD v3 gnomAD v4
1g.169541902C>TCA343119070F5c.3188G>A (p.Arg1063Lys)
c.3203G>A (p.Arg1068Lys)
c.2777G>A (p.Arg926Lys)
1g.169541903T>ACA343119074F5c.3187A>T (p.Arg1063Ter)
c.3202A>T (p.Arg1068Ter)
c.2776A>T (p.Arg926Ter)
1g.169541903T>CCA1233956F5c.3187A>G (p.Arg1063Gly)
c.3202A>G (p.Arg1068Gly)
c.2776A>G (p.Arg926Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.169541903T>GCA421930619F5c.3187A>C (p.Arg1063=)
c.3202A>C (p.Arg1068=)
c.2776A>C (p.Arg926=)
1g.169541903T=CA1206132518F5c.3187A= (p.Arg1063=)
c.3202A= (p.Arg1068=)
c.2776A= (p.Arg926=)
1g.169541903_169541904delinsTTCA1144229042F5c.3186_3187delinsAA (p.Arg1062=)
c.3201_3202delinsAA (p.Arg1067=)
c.2775_2776delinsAA (p.Arg925=)
1g.169541904dupCA215969F5c.3187dup (p.Arg1063LysfsTer3)
c.3202dup (p.Arg1068LysfsTer3)
c.2776dup (p.Arg926LysfsTer3)
 ClinVar dbSNP
1g.169541904T>ACA343119076F5c.3186A>T (p.Arg1062Ser)
c.3201A>T (p.Arg1067Ser)
c.2775A>T (p.Arg925Ser)
1g.169541904T>CCA421930620F5c.3186A>G (p.Arg1062=)
c.3201A>G (p.Arg1067=)
c.2775A>G (p.Arg925=)
1g.169541904T>GCA343119079F5c.3186A>C (p.Arg1062Ser)
c.3201A>C (p.Arg1067Ser)
c.2775A>C (p.Arg925Ser)
1g.169541905C>ACA343119081F5c.3185G>T (p.Arg1062Ile)
c.3200G>T (p.Arg1067Ile)
c.2774G>T (p.Arg925Ile)
1g.169541905C>GCA343119083F5c.3185G>C (p.Arg1062Thr)
c.3200G>C (p.Arg1067Thr)
c.2774G>C (p.Arg925Thr)
1g.169541905C>TCA343119085F5c.3185G>A (p.Arg1062Lys)
c.3200G>A (p.Arg1067Lys)
c.2774G>A (p.Arg925Lys)
1g.169541906T>ACA343119087F5c.3184A>T (p.Arg1062Ter)
c.3199A>T (p.Arg1067Ter)
c.2773A>T (p.Arg925Ter)
1g.169541906T>CCA343119088F5c.3184A>G (p.Arg1062Gly)
c.3199A>G (p.Arg1067Gly)
c.2773A>G (p.Arg925Gly)
1g.169541906T>GCA421930625F5c.3184A>C (p.Arg1062=)
c.3199A>C (p.Arg1067=)
c.2773A>C (p.Arg925=)
1g.169541907T>ACA343119091F5c.3183A>T (p.Glu1061Asp)
c.3198A>T (p.Glu1066Asp)
c.2772A>T (p.Glu924Asp)
1g.169541907T>CCA421930626F5c.3183A>G (p.Glu1061=)
c.3198A>G (p.Glu1066=)
c.2772A>G (p.Glu924=)
1g.169541907T>GCA343119092F5c.3183A>C (p.Glu1061Asp)
c.3198A>C (p.Glu1066Asp)
c.2772A>C (p.Glu924Asp)
 COSMIC
1g.169541908T>ACA343119095F5c.3182A>T (p.Glu1061Val)
c.3197A>T (p.Glu1066Val)
c.2771A>T (p.Glu924Val)
1g.169541908T>CCA343119097F5c.3182A>G (p.Glu1061Gly)
c.3197A>G (p.Glu1066Gly)
c.2771A>G (p.Glu924Gly)
1g.169541908T>GCA343119094F5c.3182A>C (p.Glu1061Ala)
c.3197A>C (p.Glu1066Ala)
c.2771A>C (p.Glu924Ala)
1g.169541909C>ACA343119099F5c.3181G>T (p.Glu1061Ter)
c.3196G>T (p.Glu1066Ter)
c.2770G>T (p.Glu924Ter)
 dbSNP gnomAD v3 gnomAD v4
1g.169541909C=CA1206132520F5c.3181G= (p.Glu1061=)
c.3196G= (p.Glu1066=)
c.2770G= (p.Glu924=)
1g.169541909C>GCA343119101F5c.3181G>C (p.Glu1061Gln)
c.3196G>C (p.Glu1066Gln)
c.2770G>C (p.Glu924Gln)
 COSMIC
1g.169541909C>TCA343119102F5c.3181G>A (p.Glu1061Lys)
c.3196G>A (p.Glu1066Lys)
c.2770G>A (p.Glu924Lys)
1g.169541910T>ACA421930629F5c.3180A>T (p.Ser1060=)
c.3195A>T (p.Ser1065=)
c.2769A>T (p.Ser923=)
1g.169541910T>CCA421930630F5c.3180A>G (p.Ser1060=)
c.3195A>G (p.Ser1065=)
c.2769A>G (p.Ser923=)
 dbSNP gnomAD v4
1g.169541910T>GCA421930631F5c.3180A>C (p.Ser1060=)
c.3195A>C (p.Ser1065=)
c.2769A>C (p.Ser923=)
1g.169541910T=CA1206132521F5c.3180A= (p.Ser1060=)
c.3195A= (p.Ser1065=)
c.2769A= (p.Ser923=)
1g.169541911G>ACA343119103F5c.3179C>T (p.Ser1060Leu)
c.3194C>T (p.Ser1065Leu)
c.2768C>T (p.Ser923Leu)
1g.169541911G>CCA343119105F5c.3179C>G (p.Ser1060Ter)
c.3194C>G (p.Ser1065Ter)
c.2768C>G (p.Ser923Ter)
1g.169541911G>TCA343119107F5c.3179C>A (p.Ser1060Ter)
c.3194C>A (p.Ser1065Ter)
c.2768C>A (p.Ser923Ter)
1g.169541912A=CA1206132523F5c.3178T= (p.Ser1060=)
c.3193T= (p.Ser1065=)
c.2767T= (p.Ser923=)
1g.169541912A>CCA343119110F5c.3178T>G (p.Ser1060Ala)
c.3193T>G (p.Ser1065Ala)
c.2767T>G (p.Ser923Ala)
1g.169541912A>GCA1233957F5c.3178T>C (p.Ser1060Pro)
c.3193T>C (p.Ser1065Pro)
c.2767T>C (p.Ser923Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541912A>TCA343119109F5c.3178T>A (p.Ser1060Thr)
c.3193T>A (p.Ser1065Thr)
c.2767T>A (p.Ser923Thr)

Number of alleles fetched