Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.67942985C=CA2229564638LCATc.312-9G= (n.312-9G=)
c.40-9G=
c.96-9G= (n.96-9G=)
n.90-9G=
c.*7-9G= (n.*7-9G=)
16g.67942985C>GCA2633848203LCATc.312-9G>C (n.312-9G>C)
c.40-9G>C
c.96-9G>C (n.96-9G>C)
n.90-9G>C
c.*7-9G>C (n.*7-9G>C)
 gnomAD v4
16g.67942985C>TCA623122363LCATc.312-9G>A (n.312-9G>A)
c.40-9G>A
c.96-9G>A (n.96-9G>A)
n.90-9G>A
c.*7-9G>A (n.*7-9G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67942985_67942986delinsCGCA2229564637LCATc.312-10_312-9delinsCG (n.312-10_312-9delinsCG)
c.40-10_40-9delinsCG
c.96-10_96-9delinsCG (n.96-10_96-9delinsCG)
n.90-10_90-9delinsCG
c.*7-10_*7-9delinsCG (n.*7-10_*7-9delinsCG)
16g.67942986G>ACA8121114LCATc.312-10C>T (n.312-10C>T)
c.40-10C>T
c.96-10C>T (n.96-10C>T)
n.90-10C>T
c.*7-10C>T (n.*7-10C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67942986G=CA2229564639LCATc.312-10C= (n.312-10C=)
c.40-10C=
c.96-10C= (n.96-10C=)
n.90-10C=
c.*7-10C= (n.*7-10C=)
16g.67942990dupCA2807445271LCATc.312-10dup (n.312-10dup)
c.40-10dup
c.96-10dup (n.96-10dup)
n.90-10dup
c.*7-10dup (n.*7-10dup)
16g.67942990delCA8121113LCATc.312-10del (n.312-10del)
c.40-10del
c.96-10del (n.96-10del)
n.90-10del
c.*7-10del (n.*7-10del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67942987G>CCA283163170LCATc.312-11C>G (n.312-11C>G)
c.40-11C>G
c.96-11C>G (n.96-11C>G)
n.90-11C>G
c.*7-11C>G (n.*7-11C>G)
 dbSNP
16g.67942987G=CA2229564640LCATc.312-11C= (n.312-11C=)
c.40-11C=
c.96-11C= (n.96-11C=)
n.90-11C=
c.*7-11C= (n.*7-11C=)
16g.67942987G>TCA2732574487LCATc.312-11C>A (n.312-11C>A)
c.40-11C>A
c.96-11C>A (n.96-11C>A)
n.90-11C>A
c.*7-11C>A (n.*7-11C>A)
 dbSNP
16g.67942988G>ACA2633848207LCATc.312-12C>T (n.312-12C>T)
c.40-12C>T
c.96-12C>T (n.96-12C>T)
n.90-12C>T
c.*7-12C>T (n.*7-12C>T)
 gnomAD v4
16g.67942988G>CCA623122364LCATc.312-12C>G (n.312-12C>G)
c.40-12C>G
c.96-12C>G (n.96-12C>G)
n.90-12C>G
c.*7-12C>G (n.*7-12C>G)
 dbSNP gnomAD v2 gnomAD v4
16g.67942988G=CA2229564641LCATc.312-12C= (n.312-12C=)
c.40-12C=
c.96-12C= (n.96-12C=)
n.90-12C=
c.*7-12C= (n.*7-12C=)
16g.67942990G>ACA2633848208LCATc.312-14C>T (n.312-14C>T)
c.40-14C>T
c.96-14C>T (n.96-14C>T)
n.90-14C>T
c.*7-14C>T (n.*7-14C>T)
 gnomAD v4
16g.67942991T>GCA2229564643LCATc.312-15A>C (n.312-15A>C)
c.40-15A>C
c.96-15A>C (n.96-15A>C)
n.90-15A>C
c.*7-15A>C (n.*7-15A>C)
 dbSNP
16g.67942991T=CA2229564642LCATc.312-15A= (n.312-15A=)
c.40-15A=
c.96-15A= (n.96-15A=)
n.90-15A=
c.*7-15A= (n.*7-15A=)
16g.67942992G>ACA2229564645LCATc.312-16C>T (n.312-16C>T)
c.40-16C>T
c.96-16C>T (n.96-16C>T)
n.90-16C>T
c.*7-16C>T (n.*7-16C>T)
 dbSNP
16g.67942992G=CA2229564644LCATc.312-16C= (n.312-16C=)
c.40-16C=
c.96-16C= (n.96-16C=)
n.90-16C=
c.*7-16C= (n.*7-16C=)
16g.67942993C=CA2229564646LCATc.312-17G= (n.312-17G=)
c.40-17G=
c.96-17G= (n.96-17G=)
n.90-17G=
c.*7-17G= (n.*7-17G=)
16g.67942993C>GCA8121115LCATc.312-17G>C (n.312-17G>C)
c.40-17G>C
c.96-17G>C (n.96-17G>C)
n.90-17G>C
c.*7-17G>C (n.*7-17G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67942994C>TCA2576033583LCATc.312-18G>A (n.312-18G>A)
c.40-18G>A
c.96-18G>A (n.96-18G>A)
n.90-18G>A
c.*7-18G>A (n.*7-18G>A)
16g.67942996C=CA2229564647LCATc.312-20G= (n.312-20G=)
c.40-20G=
c.96-20G= (n.96-20G=)
n.90-20G=
c.*7-20G= (n.*7-20G=)
16g.67942996C>GCA8121116LCATc.312-20G>C (n.312-20G>C)
c.40-20G>C
c.96-20G>C (n.96-20G>C)
n.90-20G>C
c.*7-20G>C (n.*7-20G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67942997T>GCA2633848214LCATc.312-21A>C (n.312-21A>C)
c.40-21A>C
c.96-21A>C (n.96-21A>C)
n.90-21A>C
c.*7-21A>C (n.*7-21A>C)
 gnomAD v4
16g.67942998C=CA2229564648LCATc.312-22G= (n.312-22G=)
c.40-22G=
c.96-22G= (n.96-22G=)
n.90-22G=
c.*7-22G= (n.*7-22G=)
16g.67942998C>TCA8121117LCATc.312-22G>A (n.312-22G>A)
c.40-22G>A
c.96-22G>A (n.96-22G>A)
n.90-22G>A
c.*7-22G>A (n.*7-22G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.67943000G>CCA2633848217LCATc.312-24C>G (n.312-24C>G)
c.40-24C>G
c.96-24C>G (n.96-24C>G)
n.90-24C>G
c.*7-24C>G (n.*7-24C>G)
 gnomAD v4
16g.67943001_67943008delinsCAGCCAGTCA2229564649LCATc.312-32_312-25delinsACTGGCTG (n.312-32_312-25delinsACTGGCTG)
c.40-32_40-25delinsACTGGCTG
c.96-32_96-25delinsACTGGCTG (n.96-32_96-25delinsACTGGCTG)
n.90-32_90-25delinsACTGGCTG
c.*7-32_*7-25delinsACTGGCTG (n.*7-32_*7-25delinsACTGGCTG)
16g.67943002A=CA2229564650LCATc.312-26T= (n.312-26T=)
c.40-26T=
c.96-26T= (n.96-26T=)
n.90-26T=
c.*7-26T= (n.*7-26T=)
16g.67943002A>TCA2229564651LCATc.312-26T>A (n.312-26T>A)
c.40-26T>A
c.96-26T>A (n.96-26T>A)
n.90-26T>A
c.*7-26T>A (n.*7-26T>A)
 dbSNP gnomAD v4
16g.67943007_67943013delCA623122365LCATc.312-32_312-26del (n.312-32_312-26del)
c.40-32_40-26del
c.96-32_96-26del (n.96-32_96-26del)
n.90-32_90-26del
c.*7-32_*7-26del (n.*7-32_*7-26del)
 dbSNP gnomAD v2 gnomAD v4
16g.67943003G>TCA2633848222LCATc.312-27C>A (n.312-27C>A)
c.40-27C>A
c.96-27C>A (n.96-27C>A)
n.90-27C>A
c.*7-27C>A (n.*7-27C>A)
 gnomAD v4
16g.67943006A=CA2229564652LCATc.312-30T= (n.312-30T=)
c.40-30T=
c.96-30T= (n.96-30T=)
n.90-30T=
c.*7-30T= (n.*7-30T=)
16g.67943006A>GCA8121118LCATc.312-30T>C (n.312-30T>C)
c.40-30T>C
c.96-30T>C (n.96-30T>C)
n.90-30T>C
c.*7-30T>C (n.*7-30T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.67943008T>CCA8121119LCATc.312-32A>G (n.312-32A>G)
c.40-32A>G
c.96-32A>G (n.96-32A>G)
n.90-32A>G
c.*7-32A>G (n.*7-32A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.67943008T=CA2229564653LCATc.312-32A= (n.312-32A=)
c.40-32A=
c.96-32A= (n.96-32A=)
n.90-32A=
c.*7-32A= (n.*7-32A=)
16g.67943009A>GCA2633848224LCATc.312-33T>C (n.312-33T>C)
c.40-33T>C
c.96-33T>C (n.96-33T>C)
n.90-33T>C
c.*7-33T>C (n.*7-33T>C)
 gnomAD v4
16g.67943011C=CA2229564654LCATc.312-35G= (n.312-35G=)
c.40-35G=
c.96-35G= (n.96-35G=)
n.90-35G=
c.*7-35G= (n.*7-35G=)
16g.67943011C>GCA8121120LCATc.312-35G>C (n.312-35G>C)
c.40-35G>C
c.96-35G>C (n.96-35G>C)
n.90-35G>C
c.*7-35G>C (n.*7-35G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67943011C>TCA2633848226LCATc.312-35G>A (n.312-35G>A)
c.40-35G>A
c.96-35G>A (n.96-35G>A)
n.90-35G>A
c.*7-35G>A (n.*7-35G>A)
 gnomAD v4
16g.67943012C>ACA283163191LCATc.312-36G>T (n.312-36G>T)
c.40-36G>T
c.96-36G>T (n.96-36G>T)
n.90-36G>T
c.*7-36G>T (n.*7-36G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67943012C=CA2229564655LCATc.312-36G= (n.312-36G=)
c.40-36G=
c.96-36G= (n.96-36G=)
n.90-36G=
c.*7-36G= (n.*7-36G=)
16g.67943013A>CCA2807445280LCATc.312-37T>G (n.312-37T>G)
c.40-37T>G
c.96-37T>G (n.96-37T>G)
n.90-37T>G
c.*7-37T>G (n.*7-37T>G)
16g.67943014A>GCA2633848229LCATc.312-38T>C (n.312-38T>C)
c.40-38T>C
c.96-38T>C (n.96-38T>C)
n.90-38T>C
c.*7-38T>C (n.*7-38T>C)
 gnomAD v4
16g.67943018dupCA2633848230LCATc.312-39dup (n.312-39dup)
c.40-39dup
c.96-39dup (n.96-39dup)
n.90-39dup
c.*7-39dup (n.*7-39dup)
 gnomAD v4
16g.67943016G>ACA2633848231LCATc.312-40C>T (n.312-40C>T)
c.40-40C>T
c.96-40C>T (n.96-40C>T)
n.90-40C>T
c.*7-40C>T (n.*7-40C>T)
 gnomAD v4
16g.67943016G>CCA2633848232LCATc.312-40C>G (n.312-40C>G)
c.40-40C>G
c.96-40C>G (n.96-40C>G)
n.90-40C>G
c.*7-40C>G (n.*7-40C>G)
 gnomAD v4
16g.67943017G>ACA2508816468LCATc.311+39C>T (n.311+39C>T)
c.39+39C>T
c.95+39C>T (n.95+39C>T)
n.89+39C>T
c.*6+39C>T (n.*6+39C>T)
 gnomAD v4
16g.67943018G>ACA2576033584LCATc.311+38C>T (n.311+38C>T)
c.39+38C>T
c.95+38C>T (n.95+38C>T)
n.89+38C>T
c.*6+38C>T (n.*6+38C>T)
 gnomAD v4
16g.67943019C>ACA978461415LCATc.311+37G>T (n.311+37G>T)
c.39+37G>T
c.95+37G>T (n.95+37G>T)
n.89+37G>T
c.*6+37G>T (n.*6+37G>T)
 dbSNP gnomAD v3 gnomAD v4
16g.67943019C=CA2229564656LCATc.311+37G= (n.311+37G=)
c.39+37G=
c.95+37G= (n.95+37G=)
n.89+37G=
c.*6+37G= (n.*6+37G=)
16g.67943020A=CA2229564657LCATc.311+36T= (n.311+36T=)
c.39+36T=
c.95+36T= (n.95+36T=)
n.89+36T=
c.*6+36T= (n.*6+36T=)
16g.67943020A>CCA723100390LCATc.311+36T>G (n.311+36T>G)
c.39+36T>G
c.95+36T>G (n.95+36T>G)
n.89+36T>G
c.*6+36T>G (n.*6+36T>G)
 dbSNP gnomAD v3 gnomAD v4
16g.67943021G>CCA2633848235LCATc.311+35C>G (n.311+35C>G)
c.39+35C>G
c.95+35C>G (n.95+35C>G)
n.89+35C>G
c.*6+35C>G (n.*6+35C>G)
 gnomAD v4
16g.67943022C=CA2229564658LCATc.311+34G= (n.311+34G=)
c.39+34G=
c.95+34G= (n.95+34G=)
n.89+34G=
c.*6+34G= (n.*6+34G=)
16g.67943022C>TCA8121121LCATc.311+34G>A (n.311+34G>A)
c.39+34G>A
c.95+34G>A (n.95+34G>A)
n.89+34G>A
c.*6+34G>A (n.*6+34G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67943023G>ACA8121122LCATc.311+33C>T (n.311+33C>T)
c.39+33C>T
c.95+33C>T (n.95+33C>T)
n.89+33C>T
c.*6+33C>T (n.*6+33C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67943023G=CA2229564659LCATc.311+33C= (n.311+33C=)
c.39+33C=
c.95+33C= (n.95+33C=)
n.89+33C=
c.*6+33C= (n.*6+33C=)
16g.67943025G>ACA2633848237LCATc.311+31C>T (n.311+31C>T)
c.39+31C>T
c.95+31C>T (n.95+31C>T)
n.89+31C>T
c.*6+31C>T (n.*6+31C>T)
 gnomAD v4
16g.67943025G>TCA2633848239LCATc.311+31C>A (n.311+31C>A)
c.39+31C>A
c.95+31C>A (n.95+31C>A)
n.89+31C>A
c.*6+31C>A (n.*6+31C>A)
 gnomAD v4
16g.67943026T>CCA2633848240LCATc.311+30A>G (n.311+30A>G)
c.39+30A>G
c.95+30A>G (n.95+30A>G)
n.89+30A>G
c.*6+30A>G (n.*6+30A>G)
 gnomAD v4
16g.67943027T>CCA2633848241LCATc.311+29A>G (n.311+29A>G)
c.39+29A>G
c.95+29A>G (n.95+29A>G)
n.89+29A>G
c.*6+29A>G (n.*6+29A>G)
 gnomAD v4
16g.67943028G>ACA283163202LCATc.311+28C>T (n.311+28C>T)
c.39+28C>T
c.95+28C>T (n.95+28C>T)
n.89+28C>T
c.*6+28C>T (n.*6+28C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67943028G>CCA283163210LCATc.311+28C>G (n.311+28C>G)
c.39+28C>G
c.95+28C>G (n.95+28C>G)
n.89+28C>G
c.*6+28C>G (n.*6+28C>G)
 dbSNP
16g.67943028G=CA2229564660LCATc.311+28C= (n.311+28C=)
c.39+28C=
c.95+28C= (n.95+28C=)
n.89+28C=
c.*6+28C= (n.*6+28C=)
16g.67943029G>ACA2633848243LCATc.311+27C>T (n.311+27C>T)
c.39+27C>T
c.95+27C>T (n.95+27C>T)
n.89+27C>T
c.*6+27C>T (n.*6+27C>T)
 gnomAD v4
16g.67943030G>ACA623122366LCATc.311+26C>T (n.311+26C>T)
c.39+26C>T
c.95+26C>T (n.95+26C>T)
n.89+26C>T
c.*6+26C>T (n.*6+26C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67943030G=CA2229564661LCATc.311+26C= (n.311+26C=)
c.39+26C=
c.95+26C= (n.95+26C=)
n.89+26C=
c.*6+26C= (n.*6+26C=)
16g.67943032C>GCA2633848244LCATc.311+24G>C (n.311+24G>C)
c.39+24G>C
c.95+24G>C (n.95+24G>C)
n.89+24G>C
c.*6+24G>C (n.*6+24G>C)
 gnomAD v4
16g.67943033T>CCA2633848246LCATc.311+23A>G (n.311+23A>G)
c.39+23A>G
c.95+23A>G (n.95+23A>G)
n.89+23A>G
c.*6+23A>G (n.*6+23A>G)
 gnomAD v4
16g.67943035G>ACA2229564663LCATc.311+21C>T (n.311+21C>T)
c.39+21C>T
c.95+21C>T (n.95+21C>T)
n.89+21C>T
c.*6+21C>T (n.*6+21C>T)
 dbSNP
16g.67943035G>CCA2633848248LCATc.311+21C>G (n.311+21C>G)
c.39+21C>G
c.95+21C>G (n.95+21C>G)
n.89+21C>G
c.*6+21C>G (n.*6+21C>G)
 gnomAD v4
16g.67943035G=CA2229564662LCATc.311+21C= (n.311+21C=)
c.39+21C=
c.95+21C= (n.95+21C=)
n.89+21C=
c.*6+21C= (n.*6+21C=)
16g.67943036G>ACA656474678LCATc.311+20C>T (n.311+20C>T)
c.39+20C>T
c.95+20C>T (n.95+20C>T)
n.89+20C>T
c.*6+20C>T (n.*6+20C>T)
 COSMIC
16g.67943038T>GCA623122367LCATc.311+18A>C (n.311+18A>C)
c.39+18A>C
c.95+18A>C (n.95+18A>C)
n.89+18A>C
c.*6+18A>C (n.*6+18A>C)
 dbSNP gnomAD v2 gnomAD v4
16g.67943038T=CA2229564664LCATc.311+18A= (n.311+18A=)
c.39+18A=
c.95+18A= (n.95+18A=)
n.89+18A=
c.*6+18A= (n.*6+18A=)
16g.67943039G>ACA2633848250LCATc.311+17C>T (n.311+17C>T)
c.39+17C>T
c.95+17C>T (n.95+17C>T)
n.89+17C>T
c.*6+17C>T (n.*6+17C>T)
 gnomAD v4
16g.67943042G>CCA623122368LCATc.311+14C>G (n.311+14C>G)
c.39+14C>G
c.95+14C>G (n.95+14C>G)
n.89+14C>G
c.*6+14C>G (n.*6+14C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.67943042G=CA2229564665LCATc.311+14C= (n.311+14C=)
c.39+14C=
c.95+14C= (n.95+14C=)
n.89+14C=
c.*6+14C= (n.*6+14C=)
16g.67943043C=CA2229564666LCATc.311+13G= (n.311+13G=)
c.39+13G=
c.95+13G= (n.95+13G=)
n.89+13G=
c.*6+13G= (n.*6+13G=)
16g.67943043C>GCA8121123LCATc.311+13G>C (n.311+13G>C)
c.39+13G>C
c.95+13G>C (n.95+13G>C)
n.89+13G>C
c.*6+13G>C (n.*6+13G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67943045C>GCA2633848253LCATc.311+11G>C (n.311+11G>C)
c.39+11G>C
c.95+11G>C (n.95+11G>C)
n.89+11G>C
c.*6+11G>C (n.*6+11G>C)
 gnomAD v4
16g.67943046A=CA2229564667LCATc.311+10T= (n.311+10T=)
c.39+10T=
c.95+10T= (n.95+10T=)
n.89+10T=
c.*6+10T= (n.*6+10T=)
16g.67943046A>GCA2229564668LCATc.311+10T>C (n.311+10T>C)
c.39+10T>C
c.95+10T>C (n.95+10T>C)
n.89+10T>C
c.*6+10T>C (n.*6+10T>C)
 dbSNP gnomAD v4
16g.67943047T>CCA2633848255LCATc.311+9A>G (n.311+9A>G)
c.39+9A>G
c.95+9A>G (n.95+9A>G)
n.89+9A>G
c.*6+9A>G (n.*6+9A>G)
 gnomAD v4
16g.67943048G>ACA623122369LCATc.311+8C>T (n.311+8C>T)
c.39+8C>T
c.95+8C>T (n.95+8C>T)
n.89+8C>T
c.*6+8C>T (n.*6+8C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.67943048G=CA2229564669LCATc.311+8C= (n.311+8C=)
c.39+8C=
c.95+8C= (n.95+8C=)
n.89+8C=
c.*6+8C= (n.*6+8C=)
16g.67943048G>TCA2576033585LCATc.311+8C>A (n.311+8C>A)
c.39+8C>A
c.95+8C>A (n.95+8C>A)
n.89+8C>A
c.*6+8C>A (n.*6+8C>A)
 gnomAD v4
16g.67943051T>CCA8121124LCATc.311+5A>G (n.311+5A>G)
c.39+5A>G
c.95+5A>G (n.95+5A>G)
n.89+5A>G
c.*6+5A>G (n.*6+5A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67943051T=CA2229564670LCATc.311+5A= (n.311+5A=)
c.39+5A=
c.95+5A= (n.95+5A=)
n.89+5A=
c.*6+5A= (n.*6+5A=)
16g.67943052G>ACA723100409LCATc.311+4C>T (n.311+4C>T)
c.39+4C>T
c.95+4C>T (n.95+4C>T)
n.89+4C>T
c.*6+4C>T (n.*6+4C>T)
 dbSNP gnomAD v4
16g.67943052G=CA2229564671LCATc.311+4C= (n.311+4C=)
c.39+4C=
c.95+4C= (n.95+4C=)
n.89+4C=
c.*6+4C= (n.*6+4C=)
16g.67943054A>CCA396381227LCATc.311+2T>G (n.311+2T>G)
c.39+2T>G
c.95+2T>G (n.95+2T>G)
n.89+2T>G
c.*6+2T>G (n.*6+2T>G)
16g.67943054A>GCA396381232LCATc.311+2T>C (n.311+2T>C)
c.39+2T>C
c.95+2T>C (n.95+2T>C)
n.89+2T>C
c.*6+2T>C (n.*6+2T>C)
16g.67943054A>TCA396381229LCATc.311+2T>A (n.311+2T>A)
c.39+2T>A
c.95+2T>A (n.95+2T>A)
n.89+2T>A
c.*6+2T>A (n.*6+2T>A)
16g.67943055C>ACA396381235LCATc.311+1G>T (n.311+1G>T)
c.39+1G>T
c.95+1G>T (n.95+1G>T)
n.89+1G>T
c.*6+1G>T (n.*6+1G>T)
16g.67943055C>GCA396381237LCATc.311+1G>C (n.311+1G>C)
c.39+1G>C
c.95+1G>C (n.95+1G>C)
n.89+1G>C
c.*6+1G>C (n.*6+1G>C)
16g.67943055C>TCA396381240LCATc.311+1G>A (n.311+1G>A)
c.39+1G>A
c.95+1G>A (n.95+1G>A)
n.89+1G>A
c.*6+1G>A (n.*6+1G>A)
16g.67943056C>ACA396381243LCATc.311G>T (p.Arg104Met)
c.39G>T
c.95G>T (p.Arg32Met)
n.89G>T
c.*6G>T (n.*6G>T)
16g.67943056C=CA2229564672LCATc.311G= (p.Arg104=)
c.39G=
c.95G= (p.Arg32=)
n.89G=
c.*6G= (n.*6G=)
16g.67943056C>GCA396381245LCATc.311G>C (p.Arg104Thr)
c.39G>C
c.95G>C (p.Arg32Thr)
n.89G>C
c.*6G>C (n.*6G>C)
16g.67943056C>TCA396381248LCATc.311G>A (p.Arg104Lys)
c.39G>A
c.95G>A (p.Arg32Lys)
n.89G>A
c.*6G>A (n.*6G>A)
 dbSNP gnomAD v3 gnomAD v4
16g.67943057T>ACA396381252LCATc.310A>T (p.Arg104Trp)
c.38A>T
c.94A>T (p.Arg32Trp)
n.88A>T
c.*5A>T (n.*5A>T)
16g.67943057T>CCA396381254LCATc.310A>G (p.Arg104Gly)
c.38A>G
c.94A>G (p.Arg32Gly)
n.88A>G
c.*5A>G (n.*5A>G)
16g.67943057T>GCA496384368LCATc.310A>C (p.Arg104=)
c.38A>C
c.94A>C (p.Arg32=)
n.88A>C
c.*5A>C (n.*5A>C)
16g.67943058G>ACA8121125LCATc.309C>T (p.Thr103=)
c.37C>T
c.93C>T (p.Thr31=)
n.87C>T
c.*4C>T (n.*4C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.67943058G>CCA496384369LCATc.309C>G (p.Thr103=)
c.37C>G
c.93C>G (p.Thr31=)
n.87C>G
c.*4C>G (n.*4C>G)
16g.67943058G=CA2229564673LCATc.309C= (p.Thr103=)
c.37C=
c.93C= (p.Thr31=)
n.87C=
c.*4C= (n.*4C=)
16g.67943058G>TCA496384370LCATc.309C>A (p.Thr103=)
c.37C>A
c.93C>A (p.Thr31=)
n.87C>A
c.*4C>A (n.*4C>A)
16g.67943059G>ACA396381258LCATc.308C>T (p.Thr103Ile)
c.36C>T
c.92C>T (p.Thr31Ile)
n.86C>T
c.*3C>T (n.*3C>T)
16g.67943059G>CCA396381265LCATc.308C>G (p.Thr103Ser)
c.36C>G
c.92C>G (p.Thr31Ser)
n.86C>G
c.*3C>G (n.*3C>G)
 gnomAD v4
16g.67943059G>TCA396381268LCATc.308C>A (p.Thr103Asn)
c.36C>A
c.92C>A (p.Thr31Asn)
n.86C>A
c.*3C>A (n.*3C>A)
16g.67943060T>ACA396381277LCATc.307A>T (p.Thr103Ser)
c.35A>T
c.91A>T (p.Thr31Ser)
n.85A>T
c.*2A>T (n.*2A>T)
16g.67943060T>CCA396381270LCATc.307A>G (p.Thr103Ala)
c.35A>G
c.91A>G (p.Thr31Ala)
n.85A>G
c.*2A>G (n.*2A>G)
16g.67943060T>GCA396381273LCATc.307A>C (p.Thr103Pro)
c.35A>C
c.91A>C (p.Thr31Pro)
n.85A>C
c.*2A>C (n.*2A>C)
16g.67943061G>ACA8121126LCATc.306C>T (p.Asn102=)
c.34C>T
c.90C>T (p.Asn30=)
n.84C>T
c.*1C>T (n.*1C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67943061G>CCA396381286LCATc.306C>G (p.Asn102Lys)
c.34C>G
c.90C>G (p.Asn30Lys)
n.84C>G
c.*1C>G (n.*1C>G)
16g.67943061G=CA2229564674LCATc.306C= (p.Asn102=)
c.34C=
c.90C= (p.Asn30=)
n.84C=
c.*1C= (n.*1C=)
16g.67943061G>TCA396381289LCATc.306C>A (p.Asn102Lys)
c.34C>A
c.90C>A (p.Asn30Lys)
n.84C>A
c.*1C>A (n.*1C>A)
16g.67943062T>ACA396381291LCATc.305A>T (p.Asn102Ile)
c.33A>T
c.89A>T (p.Asn30Ile)
n.83A>T
c.282A>T (p.Ter94Tyr)
16g.67943062T>CCA396381293LCATc.305A>G (p.Asn102Ser)
c.33A>G
c.89A>G (p.Asn30Ser)
n.83A>G
c.282A>G (p.Ter94=)
 dbSNP gnomAD v3 gnomAD v4
16g.67943062T>GCA396381296LCATc.305A>C (p.Asn102Thr)
c.33A>C
c.89A>C (p.Asn30Thr)
n.83A>C
c.282A>C (p.Ter94Tyr)
16g.67943062T=CA2229564675LCATc.305A= (p.Asn102=)
c.33A=
c.89A= (p.Asn30=)
n.83A=
c.282A= (p.Ter94=)
16g.67943063dupCA2633848269LCATc.305dup (p.Asn102LysfsTer?)
c.33dup
c.89dup (p.Asn30LysfsTer?)
n.83dup
c.282dup (n.282dup)
 gnomAD v4
16g.67943063T>ACA8121127LCATc.304A>T (p.Asn102Tyr)
c.32A>T
c.88A>T (p.Asn30Tyr)
n.82A>T
c.281A>T (p.Ter94Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67943063T>CCA396381298LCATc.304A>G (p.Asn102Asp)
c.32A>G
c.88A>G (p.Asn30Asp)
n.82A>G
c.281A>G (p.Ter94=)
16g.67943063T>GCA396381300LCATc.304A>C (p.Asn102His)
c.32A>C
c.88A>C (p.Asn30His)
n.82A>C
c.281A>C (p.Ter94Ser)
16g.67943063T=CA2229564676LCATc.304A= (p.Asn102=)
c.32A=
c.88A= (p.Asn30=)
n.82A=
c.281A= (p.Ter94=)
16g.67943064A>CCA396381303LCATc.303T>G (p.Asp101Glu)
c.31T>G
c.87T>G (p.Asp29Glu)
n.81T>G
c.280T>G (p.Ter94Glu)
16g.67943064A>GCA496384371LCATc.303T>C (p.Asp101=)
c.31T>C
c.87T>C (p.Asp29=)
n.81T>C
c.280T>C (p.Ter94Gln)
16g.67943064A>TCA396381304LCATc.303T>A (p.Asp101Glu)
c.31T>A
c.87T>A (p.Asp29Glu)
n.81T>A
c.280T>A (p.Ter94Lys)
16g.67943065T>ACA396381313LCATc.302A>T (p.Asp101Val)
c.30A>T
c.86A>T (p.Asp29Val)
n.80A>T
c.279A>T (p.Arg93=)
16g.67943065T>CCA396381310LCATc.302A>G (p.Asp101Gly)
c.30A>G
c.86A>G (p.Asp29Gly)
n.80A>G
c.279A>G (p.Arg93=)
16g.67943065T>GCA396381308LCATc.302A>C (p.Asp101Ala)
c.30A>C
c.86A>C (p.Asp29Ala)
n.80A>C
c.279A>C (p.Arg93=)
16g.67943066C>ACA396381318LCATc.301G>T (p.Asp101Tyr)
c.29G>T
c.85G>T (p.Asp29Tyr)
n.79G>T
c.278G>T (p.Arg93Leu)
16g.67943066C=CA2229564677LCATc.301G= (p.Asp101=)
c.29G=
c.85G= (p.Asp29=)
n.79G=
c.278G= (p.Arg93=)
16g.67943066C>GCA396381322LCATc.301G>C (p.Asp101His)
c.29G>C
c.85G>C (p.Asp29His)
n.79G>C
c.278G>C (p.Arg93Pro)
16g.67943066C>TCA8121128LCATc.301G>A (p.Asp101Asn)
c.29G>A
c.85G>A (p.Asp29Asn)
n.79G>A
c.278G>A (p.Arg93Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67943067G>ACA283163243LCATc.300C>T (p.Ile100=)
c.28C>T
c.84C>T (p.Ile28=)
n.78C>T
c.277C>T (p.Arg93Ter)
 dbSNP gnomAD v2 gnomAD v4
16g.67943067G>CCA396381331LCATc.300C>G (p.Ile100Met)
c.28C>G
c.84C>G (p.Ile28Met)
n.78C>G
c.277C>G (p.Arg93Gly)
16g.67943067G=CA2229564678LCATc.300C= (p.Ile100=)
c.28C=
c.84C= (p.Ile28=)
n.78C=
c.277C= (p.Arg93=)
16g.67943067G>TCA496384376LCATc.300C>A (p.Ile100=)
c.28C>A
c.84C>A (p.Ile28=)
n.78C>A
c.277C>A (p.Arg93=)
16g.67943068A>CCA396381339LCATc.299T>G (p.Ile100Ser)
c.27T>G
c.83T>G (p.Ile28Ser)
n.77T>G
c.276T>G (p.Asp92Glu)
16g.67943068A>GCA396381336LCATc.299T>C (p.Ile100Thr)
c.27T>C
c.83T>C (p.Ile28Thr)
n.77T>C
c.276T>C (p.Asp92=)
16g.67943068A>TCA396381334LCATc.299T>A (p.Ile100Asn)
c.27T>A
c.83T>A (p.Ile28Asn)
n.77T>A
c.276T>A (p.Asp92Glu)
16g.67943069T>ACA396381342LCATc.298A>T (p.Ile100Phe)
c.26A>T
c.82A>T (p.Ile28Phe)
n.76A>T
c.275A>T (p.Asp92Val)
16g.67943069T>CCA396381344LCATc.298A>G (p.Ile100Val)
c.26A>G
c.82A>G (p.Ile28Val)
n.76A>G
c.275A>G (p.Asp92Gly)
 dbSNP
16g.67943069T>GCA396381345LCATc.298A>C (p.Ile100Leu)
c.26A>C
c.82A>C (p.Ile28Leu)
n.76A>C
c.275A>C (p.Asp92Ala)
16g.67943069T=CA2229564679LCATc.298A= (p.Ile100=)
c.26A=
c.82A= (p.Ile28=)
n.76A=
c.275A= (p.Asp92=)
16g.67943070C>ACA396381348LCATc.297G>T (p.Trp99Cys)
c.25G>T
c.81G>T (p.Trp27Cys)
n.75G>T
c.274G>T (p.Asp92Tyr)
 gnomAD v4
16g.67943070C>GCA396381349LCATc.297G>C (p.Trp99Cys)
c.25G>C
c.81G>C (p.Trp27Cys)
n.75G>C
c.274G>C (p.Asp92His)
16g.67943070C>TCA396381352LCATc.297G>A (p.Trp99Ter)
c.25G>A
c.81G>A (p.Trp27Ter)
n.75G>A
c.274G>A (p.Asp92Asn)
16g.67943071C>ACA396381353LCATc.296G>T (p.Trp99Leu)
c.24G>T
c.80G>T (p.Trp27Leu)
n.74G>T
c.273G>T (p.Leu91=)
16g.67943071C>GCA396381358LCATc.296G>C (p.Trp99Ser)
c.24G>C
c.80G>C (p.Trp27Ser)
n.74G>C
c.273G>C (p.Leu91=)
16g.67943071C>TCA396381355LCATc.296G>A (p.Trp99Ter)
c.24G>A
c.80G>A (p.Trp27Ter)
n.74G>A
c.273G>A (p.Leu91=)
16g.67943072A=CA2229564680LCATc.295T= (p.Trp99=)
c.23T=
c.79T= (p.Trp27=)
n.73T=
c.272T= (p.Leu91=)
16g.67943072A>CCA396381361LCATc.295T>G (p.Trp99Gly)
c.23T>G
c.79T>G (p.Trp27Gly)
n.73T>G
c.272T>G (p.Leu91Arg)
16g.67943072A>GCA396381362LCATc.295T>C (p.Trp99Arg)
c.23T>C
c.79T>C (p.Trp27Arg)
n.73T>C
c.272T>C (p.Leu91Pro)
 dbSNP gnomAD v4
16g.67943072A>TCA396381365LCATc.295T>A (p.Trp99Arg)
c.23T>A
c.79T>A (p.Trp27Arg)
n.73T>A
c.272T>A (p.Leu91Gln)
 gnomAD v4
16g.67943073G>ACA496384380LCATc.294C>T (p.Cys98=)
c.22C>T
c.78C>T (p.Cys26=)
n.72C>T
c.271C>T (p.Leu91=)
16g.67943073G>CCA396381368LCATc.294C>G (p.Cys98Trp)
c.22C>G
c.78C>G (p.Cys26Trp)
n.72C>G
c.271C>G (p.Leu91Val)
16g.67943073G>TCA396381370LCATc.294C>A (p.Cys98Ter)
c.22C>A
c.78C>A (p.Cys26Ter)
n.72C>A
c.271C>A (p.Leu91Met)
16g.67943074C>ACA396381373LCATc.293G>T (p.Cys98Phe)
c.21G>T
c.77G>T (p.Cys26Phe)
n.71G>T
c.270G>T (p.Leu90=)
16g.67943074C>GCA396381375LCATc.293G>C (p.Cys98Ser)
c.21G>C
c.77G>C (p.Cys26Ser)
n.71G>C
c.270G>C (p.Leu90=)
16g.67943074C>TCA396381380LCATc.293G>A (p.Cys98Tyr)
c.21G>A
c.77G>A (p.Cys26Tyr)
n.71G>A
c.270G>A (p.Leu90=)
 gnomAD v4
16g.67943075A>CCA396381382LCATc.292T>G (p.Cys98Gly)
c.20T>G
c.76T>G (p.Cys26Gly)
n.70T>G
c.269T>G (p.Leu90Arg)
16g.67943075A>GCA396381384LCATc.292T>C (p.Cys98Arg)
c.20T>C
c.76T>C (p.Cys26Arg)
n.70T>C
c.269T>C (p.Leu90Pro)
16g.67943075A>TCA396381385LCATc.292T>A (p.Cys98Ser)
c.20T>A
c.76T>A (p.Cys26Ser)
n.70T>A
c.269T>A (p.Leu90Gln)
16g.67943075_67943076insAAAGTAGCTCGTGTTGCATTGGAGAACGCAGCATCTATTGCTGGAATGTTCCTTACAACAGAATGTATTGTTGTGGATAAACCAGAGGAAACCCCTCA2741495808LCATc.291_292insAGGGGTTTCCTCTGGTTTATCCACAACAATACATTCTGTTGTAAGGAACATTCCAGCAATAGATGCTGCGTTCTCCAATGCAACACGAGCTACTTT (p.Asp97_Cys98insArgGlyPheLeuTrpPheIleHisAsnAsnThrPheCysCysLysGluHisSerSerAsnArgCysCysValLeuGlnCysAsnThrSerTyrPhe)
c.19_20insAGGGGTTTCCTCTGGTTTATCCACAACAATACATTCTGTTGTAAGGAACATTCCAGCAATAGATGCTGCGTTCTCCAATGCAACACGAGCTACTTT
c.75_76insAGGGGTTTCCTCTGGTTTATCCACAACAATACATTCTGTTGTAAGGAACATTCCAGCAATAGATGCTGCGTTCTCCAATGCAACACGAGCTACTTT (p.Asp25_Cys26insArgGlyPheLeuTrpPheIleHisAsnAsnThrPheCysCysLysGluHisSerSerAsnArgCysCysValLeuGlnCysAsnThrSerTyrPhe)
n.69_70insAGGGGTTTCCTCTGGTTTATCCACAACAATACATTCTGTTGTAAGGAACATTCCAGCAATAGATGCTGCGTTCTCCAATGCAACACGAGCTACTTT
c.268_269insAGGGGTTTCCTCTGGTTTATCCACAACAATACATTCTGTTGTAAGGAACATTCCAGCAATAGATGCTGCGTTCTCCAATGCAACACGAGCTACTTT (p.Leu90GlnfsTer15)
16g.67943075_67943076insAAAGTAGCTCGTGTTGCATTGGAGAACGCTGCATCTATTGCTGGAATGTTCCTTACAACAGAATGTATTGTTGTGGATAAACCAGAGGAAACCCCTGCTGCTCCTATGAATCCAGGTATGGGTGCA2528134412LCATc.291_292insCACCCATACCTGGATTCATAGGAGCAGCAGGGGTTTCCTCTGGTTTATCCACAACAATACATTCTGTTGTAAGGAACATTCCAGCAATAGATGCAGCGTTCTCCAATGCAACACGAGCTACTTT (p.Cys98HisfsTer7)
c.19_20insCACCCATACCTGGATTCATAGGAGCAGCAGGGGTTTCCTCTGGTTTATCCACAACAATACATTCTGTTGTAAGGAACATTCCAGCAATAGATGCAGCGTTCTCCAATGCAACACGAGCTACTTT
c.75_76insCACCCATACCTGGATTCATAGGAGCAGCAGGGGTTTCCTCTGGTTTATCCACAACAATACATTCTGTTGTAAGGAACATTCCAGCAATAGATGCAGCGTTCTCCAATGCAACACGAGCTACTTT (p.Cys26HisfsTer7)
n.69_70insCACCCATACCTGGATTCATAGGAGCAGCAGGGGTTTCCTCTGGTTTATCCACAACAATACATTCTGTTGTAAGGAACATTCCAGCAATAGATGCAGCGTTCTCCAATGCAACACGAGCTACTTT
c.268_269insCACCCATACCTGGATTCATAGGAGCAGCAGGGGTTTCCTCTGGTTTATCCACAACAATACATTCTGTTGTAAGGAACATTCCAGCAATAGATGCAGCGTTCTCCAATGCAACACGAGCTACTTT (p.Leu90ProfsTer?)
16g.67943075_67943076insAAAGTAGCTCGTGTTGCATTGGAGAACGCTGCATCTATTGCTGGAATGTTCCTTACAACAGAATGTATTGTTGTGGATAAACCAGAGGAAACTCCTGCTGCTCCTATGAATCCAGGTATGGGTGGTATCA2567915170LCATc.291_292insATACCACCCATACCTGGATTCATAGGAGCAGCAGGAGTTTCCTCTGGTTTATCCACAACAATACATTCTGTTGTAAGGAACATTCCAGCAATAGATGCAGCGTTCTCCAATGCAACACGAGCTACTTT (p.Cys98IlefsTer?)
c.19_20insATACCACCCATACCTGGATTCATAGGAGCAGCAGGAGTTTCCTCTGGTTTATCCACAACAATACATTCTGTTGTAAGGAACATTCCAGCAATAGATGCAGCGTTCTCCAATGCAACACGAGCTACTTT
c.75_76insATACCACCCATACCTGGATTCATAGGAGCAGCAGGAGTTTCCTCTGGTTTATCCACAACAATACATTCTGTTGTAAGGAACATTCCAGCAATAGATGCAGCGTTCTCCAATGCAACACGAGCTACTTT (p.Cys26IlefsTer?)
n.69_70insATACCACCCATACCTGGATTCATAGGAGCAGCAGGAGTTTCCTCTGGTTTATCCACAACAATACATTCTGTTGTAAGGAACATTCCAGCAATAGATGCAGCGTTCTCCAATGCAACACGAGCTACTTT
c.268_269insATACCACCCATACCTGGATTCATAGGAGCAGCAGGAGTTTCCTCTGGTTTATCCACAACAATACATTCTGTTGTAAGGAACATTCCAGCAATAGATGCAGCGTTCTCCAATGCAACACGAGCTACTTT (p.Leu90HisfsTer?)
16g.67943076G>ACA496384382LCATc.291C>T (p.Asp97=)
c.19C>T
c.75C>T (p.Asp25=)
n.69C>T
c.268C>T (p.Leu90=)
16g.67943076G>CCA396381387LCATc.291C>G (p.Asp97Glu)
c.19C>G
c.75C>G (p.Asp25Glu)
n.69C>G
c.268C>G (p.Leu90Val)
16g.67943076G>TCA396381386LCATc.291C>A (p.Asp97Glu)
c.19C>A
c.75C>A (p.Asp25Glu)
n.69C>A
c.268C>A (p.Leu90Met)
16g.67943077T>ACA396381388LCATc.290A>T (p.Asp97Val)
c.18A>T
c.74A>T (p.Asp25Val)
n.68A>T
c.267A>T (p.Arg89Ser)
16g.67943077T>CCA396381390LCATc.290A>G (p.Asp97Gly)
c.18A>G
c.74A>G (p.Asp25Gly)
n.68A>G
c.267A>G (p.Arg89=)
16g.67943077T>GCA396381389LCATc.290A>C (p.Asp97Ala)
c.18A>C
c.74A>C (p.Asp25Ala)
n.68A>C
c.267A>C (p.Arg89Ser)
16g.67943077T=CA2229564681LCATc.290A= (p.Asp97=)
c.18A=
c.74A= (p.Asp25=)
n.68A=
c.267A= (p.Arg89=)
16g.67943078C>ACA396381392LCATc.289G>T (p.Asp97Tyr)
c.17G>T
c.73G>T (p.Asp25Tyr)
n.67G>T
c.266G>T (p.Arg89Ile)
16g.67943078C>GCA396381395LCATc.289G>C (p.Asp97His)
c.17G>C
c.73G>C (p.Asp25His)
n.67G>C
c.266G>C (p.Arg89Thr)
16g.67943078C>TCA396381397LCATc.289G>A (p.Asp97Asn)
c.17G>A
c.73G>A (p.Asp25Asn)
n.67G>A
c.266G>A (p.Arg89Lys)
16g.67943079_67943082dupCA623122370LCATc.286_289dup (p.Asp97GlyfsTer7)
c.14_17dup
c.70_73dup (p.Asp25GlyfsTer7)
n.64_67dup
c.263_266dup (p.Leu90Ter)
 dbSNP gnomAD v2 gnomAD v4
16g.67943079T>ACA496384385LCATc.288A>T (p.Val96=)
c.16A>T
c.72A>T (p.Val24=)
n.66A>T
c.265A>T (p.Arg89Ter)
16g.67943079T>CCA496384387LCATc.288A>G (p.Val96=)
c.16A>G
c.72A>G (p.Val24=)
n.66A>G
c.265A>G (p.Arg89Gly)
16g.67943079T>GCA496384389LCATc.288A>C (p.Val96=)
c.16A>C
c.72A>C (p.Val24=)
n.66A>C
c.265A>C (p.Arg89=)
16g.67943080A>CCA396381399LCATc.287T>G (p.Val96Gly)
c.15T>G
c.71T>G (p.Val24Gly)
n.65T>G
c.264T>G (p.Gly88=)
16g.67943080A>GCA396381402LCATc.287T>C (p.Val96Ala)
c.15T>C
c.71T>C (p.Val24Ala)
n.65T>C
c.264T>C (p.Gly88=)
16g.67943080A>TCA396381409LCATc.287T>A (p.Val96Glu)
c.15T>A
c.71T>A (p.Val24Glu)
n.65T>A
c.264T>A (p.Gly88=)
16g.67943081C>ACA396381411LCATc.286G>T (p.Val96Leu)
c.14G>T
c.70G>T (p.Val24Leu)
n.64G>T
c.263G>T (p.Gly88Val)
 dbSNP gnomAD v4
16g.67943081C=CA2229564682LCATc.286G= (p.Val96=)
c.14G=
c.70G= (p.Val24=)
n.64G=
c.263G= (p.Gly88=)
16g.67943081C>GCA396381415LCATc.286G>C (p.Val96Leu)
c.14G>C
c.70G>C (p.Val24Leu)
n.64G>C
c.263G>C (p.Gly88Ala)
16g.67943081C>TCA396381417LCATc.286G>A (p.Val96Ile)
c.14G>A
c.70G>A (p.Val24Ile)
n.64G>A
c.263G>A (p.Gly88Asp)
16g.67943084delCA645579413LCATc.286del (p.Val96Ter)
c.14del
c.70del (p.Val24Ter)
n.64del
c.263del (p.Gly88ValfsTer?)
 COSMIC
16g.67943083_67943084delCA2695223591LCATc.285_286del (p.Val96ArgfsTer6)
c.13_14del
c.69_70del (p.Val24ArgfsTer6)
n.63_64del
c.262_263del (p.Gly88Ter)
16g.67943082C>ACA496384393LCATc.285G>T (p.Gly95=)
c.13G>T
c.69G>T (p.Gly23=)
n.63G>T
c.262G>T (p.Gly88Cys)
16g.67943082C=CA2229564683LCATc.285G= (p.Gly95=)
c.13G=
c.69G= (p.Gly23=)
n.63G=
c.262G= (p.Gly88=)
16g.67943082C>GCA496384394LCATc.285G>C (p.Gly95=)
c.13G>C
c.69G>C (p.Gly23=)
n.63G>C
c.262G>C (p.Gly88Arg)
16g.67943082C>TCA8121129LCATc.285G>A (p.Gly95=)
c.13G>A
c.69G>A (p.Gly23=)
n.63G>A
c.262G>A (p.Gly88Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67943083C>ACA283163265LCATc.284G>T (p.Gly95Val)
c.12G>T
c.68G>T (p.Gly23Val)
n.62G>T
c.261G>T (p.Trp87Cys)
 dbSNP
16g.67943083C=CA2229564684LCATc.284G= (p.Gly95=)
c.12G=
c.68G= (p.Gly23=)
n.62G=
c.261G= (p.Trp87=)
16g.67943083C>GCA396381423LCATc.284G>C (p.Gly95Ala)
c.12G>C
c.68G>C (p.Gly23Ala)
n.62G>C
c.261G>C (p.Trp87Cys)
16g.67943083C>TCA396381425LCATc.284G>A (p.Gly95Glu)
c.12G>A
c.68G>A (p.Gly23Glu)
n.62G>A
c.261G>A (p.Trp87Ter)
16g.67943084C>ACA396381430LCATc.283G>T (p.Gly95Trp)
c.11G>T
c.67G>T (p.Gly23Trp)
n.61G>T
c.260G>T (p.Trp87Leu)
16g.67943084C>GCA396381437LCATc.283G>C (p.Gly95Arg)
c.11G>C
c.67G>C (p.Gly23Arg)
n.61G>C
c.260G>C (p.Trp87Ser)
16g.67943084C>TCA396381435LCATc.283G>A (p.Gly95Arg)
c.11G>A
c.67G>A (p.Gly23Arg)
n.61G>A
c.260G>A (p.Trp87Ter)
16g.67943085A>CCA496384399LCATc.282T>G (p.Leu94=)
c.10T>G
c.66T>G (p.Leu22=)
n.60T>G
c.259T>G (p.Trp87Gly)
16g.67943085A>GCA496384400LCATc.282T>C (p.Leu94=)
c.10T>C
c.66T>C (p.Leu22=)
n.60T>C
c.259T>C (p.Trp87Arg)
16g.67943085A>TCA496384401LCATc.282T>A (p.Leu94=)
c.10T>A
c.66T>A (p.Leu22=)
n.60T>A
c.259T>A (p.Trp87Arg)

Number of alleles fetched