Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.49061486T>ACA406805256NTF4c.512A>T (p.Lys171Met)
c.243+269A>T (n.243+269A>T)
c.542A>T (p.Lys181Met)
n.557A>T
19g.49061486T>CCA9565617NTF4c.512A>G (p.Lys171Arg)
c.243+269A>G (n.243+269A>G)
c.542A>G (p.Lys181Arg)
n.557A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.49061486T>GCA406805260NTF4c.512A>C (p.Lys171Thr)
c.243+269A>C (n.243+269A>C)
c.542A>C (p.Lys181Thr)
n.557A>C
19g.49061486T=CA2340217294NTF4c.512A= (p.Lys171=)
c.243+269A= (n.243+269A=)
c.542A= (p.Lys181=)
n.557A=
19g.49061487T>ACA406805266NTF4c.511A>T (p.Lys171Ter)
c.243+268A>T (n.243+268A>T)
c.541A>T (p.Lys181Ter)
n.556A>T
19g.49061487T>CCA406805268NTF4c.511A>G (p.Lys171Glu)
c.243+268A>G (n.243+268A>G)
c.541A>G (p.Lys181Glu)
n.556A>G
19g.49061487T>GCA406805273NTF4c.511A>C (p.Lys171Gln)
c.243+268A>C (n.243+268A>C)
c.541A>C (p.Lys181Gln)
n.556A>C
19g.49061488G>ACA508278884NTF4c.510C>T (p.Cys170=)
c.243+267C>T (n.243+267C>T)
c.540C>T (p.Cys180=)
n.555C>T
19g.49061488G>CCA406805275NTF4c.510C>G (p.Cys170Trp)
c.243+267C>G (n.243+267C>G)
c.540C>G (p.Cys180Trp)
n.555C>G
 dbSNP gnomAD v2 gnomAD v4
19g.49061488G=CA2340217295NTF4c.510C= (p.Cys170=)
c.243+267C= (n.243+267C=)
c.540C= (p.Cys180=)
n.555C=
19g.49061488G>TCA406805279NTF4c.510C>A (p.Cys170Ter)
c.243+267C>A (n.243+267C>A)
c.540C>A (p.Cys180Ter)
n.555C>A
19g.49061489C>ACA406805287NTF4c.509G>T (p.Cys170Phe)
c.243+266G>T (n.243+266G>T)
c.539G>T (p.Cys180Phe)
n.554G>T
19g.49061489C=CA2340217296NTF4c.509G= (p.Cys170=)
c.243+266G= (n.243+266G=)
c.539G= (p.Cys180=)
n.554G=
19g.49061489C>GCA406805289NTF4c.509G>C (p.Cys170Ser)
c.243+266G>C (n.243+266G>C)
c.539G>C (p.Cys180Ser)
n.554G>C
19g.49061489C>TCA406805293NTF4c.509G>A (p.Cys170Tyr)
c.243+266G>A (n.243+266G>A)
c.539G>A (p.Cys180Tyr)
n.554G>A
 dbSNP gnomAD v4
19g.49061490A=CA2340217297NTF4c.508T= (p.Cys170=)
c.243+265T= (n.243+265T=)
c.538T= (p.Cys180=)
n.553T=
19g.49061490A>CCA406805303NTF4c.508T>G (p.Cys170Gly)
c.243+265T>G (n.243+265T>G)
c.538T>G (p.Cys180Gly)
n.553T>G
19g.49061490A>GCA406805299NTF4c.508T>C (p.Cys170Arg)
c.243+265T>C (n.243+265T>C)
c.538T>C (p.Cys180Arg)
n.553T>C
 dbSNP gnomAD v2 gnomAD v4
19g.49061490A>TCA406805297NTF4c.508T>A (p.Cys170Ser)
c.243+265T>A (n.243+265T>A)
c.538T>A (p.Cys180Ser)
n.553T>A
19g.49061491C>ACA406805306NTF4c.507G>T (p.Glu169Asp)
c.243+264G>T (n.243+264G>T)
c.537G>T (p.Glu179Asp)
n.552G>T
19g.49061491C=CA2340217298NTF4c.507G= (p.Glu169=)
c.243+264G= (n.243+264G=)
c.537G= (p.Glu179=)
n.552G=
19g.49061491C>GCA406805309NTF4c.507G>C (p.Glu169Asp)
c.243+264G>C (n.243+264G>C)
c.537G>C (p.Glu179Asp)
n.552G>C
19g.49061491C>TCA508278886NTF4c.507G>A (p.Glu169=)
c.243+264G>A (n.243+264G>A)
c.537G>A (p.Glu179=)
n.552G>A
 dbSNP gnomAD v4
19g.49061492T>ACA406805313NTF4c.506A>T (p.Glu169Val)
c.243+263A>T (n.243+263A>T)
c.536A>T (p.Glu179Val)
n.551A>T
19g.49061492T>CCA406805316NTF4c.506A>G (p.Glu169Gly)
c.243+263A>G (n.243+263A>G)
c.536A>G (p.Glu179Gly)
n.551A>G
19g.49061492T>GCA406805318NTF4c.506A>C (p.Glu169Ala)
c.243+263A>C (n.243+263A>C)
c.536A>C (p.Glu179Ala)
n.551A>C
19g.49061493C>ACA406805320NTF4c.505G>T (p.Glu169Ter)
c.243+262G>T (n.243+262G>T)
c.535G>T (p.Glu179Ter)
n.550G>T
19g.49061493C=CA2340217299NTF4c.505G= (p.Glu169=)
c.243+262G= (n.243+262G=)
c.535G= (p.Glu179=)
n.550G=
19g.49061493C>GCA406805322NTF4c.505G>C (p.Glu169Gln)
c.243+262G>C (n.243+262G>C)
c.535G>C (p.Glu179Gln)
n.550G>C
19g.49061493C>TCA309446571NTF4c.505G>A (p.Glu169Lys)
c.243+262G>A (n.243+262G>A)
c.535G>A (p.Glu179Lys)
n.550G>A
 dbSNP gnomAD v2 gnomAD v4
19g.49061494A=CA2340217300NTF4c.504T= (p.Ser168=)
c.243+261T= (n.243+261T=)
c.534T= (p.Ser178=)
n.549T=
19g.49061494A>CCA508278890NTF4c.504T>G (p.Ser168=)
c.243+261T>G (n.243+261T>G)
c.534T>G (p.Ser178=)
n.549T>G
 dbSNP gnomAD v3 gnomAD v4
19g.49061494A>GCA508278891NTF4c.504T>C (p.Ser168=)
c.243+261T>C (n.243+261T>C)
c.534T>C (p.Ser178=)
n.549T>C
19g.49061494A>TCA508278892NTF4c.504T>A (p.Ser168=)
c.243+261T>A (n.243+261T>A)
c.534T>A (p.Ser178=)
n.549T>A
19g.49061495_49061498dupCA9565618NTF4c.501_504dup (p.Glu169IlefsTer2)
c.243+258_243+261dup (n.243+258_243+261dup)
c.531_534dup (p.Glu179IlefsTer2)
n.546_549dup
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.49061495G>ACA406805338NTF4c.503C>T (p.Ser168Phe)
c.243+260C>T (n.243+260C>T)
c.533C>T (p.Ser178Phe)
n.548C>T
19g.49061495G>CCA406805350NTF4c.503C>G (p.Ser168Cys)
c.243+260C>G (n.243+260C>G)
c.533C>G (p.Ser178Cys)
n.548C>G
19g.49061495G>TCA406805352NTF4c.503C>A (p.Ser168Tyr)
c.243+260C>A (n.243+260C>A)
c.533C>A (p.Ser178Tyr)
n.548C>A
19g.49061496A>CCA406805360NTF4c.502T>G (p.Ser168Ala)
c.243+259T>G (n.243+259T>G)
c.532T>G (p.Ser178Ala)
n.547T>G
19g.49061496A>GCA406805359NTF4c.502T>C (p.Ser168Pro)
c.243+259T>C (n.243+259T>C)
c.532T>C (p.Ser178Pro)
n.547T>C
19g.49061496A>TCA406805357NTF4c.502T>A (p.Ser168Thr)
c.243+259T>A (n.243+259T>A)
c.532T>A (p.Ser178Thr)
n.547T>A
19g.49061497T>ACA508278896NTF4c.501A>T (p.Val167=)
c.243+258A>T (n.243+258A>T)
c.531A>T (p.Val177=)
n.546A>T
 COSMIC
19g.49061497T>CCA508278897NTF4c.501A>G (p.Val167=)
c.243+258A>G (n.243+258A>G)
c.531A>G (p.Val177=)
n.546A>G
 dbSNP gnomAD v2 gnomAD v4
19g.49061497T>GCA508278899NTF4c.501A>C (p.Val167=)
c.243+258A>C (n.243+258A>C)
c.531A>C (p.Val177=)
n.546A>C
19g.49061497T=CA2340217301NTF4c.501A= (p.Val167=)
c.243+258A= (n.243+258A=)
c.531A= (p.Val177=)
n.546A=
19g.49061498A=CA2340217302NTF4c.500T= (p.Val167=)
c.243+257T= (n.243+257T=)
c.530T= (p.Val177=)
n.545T=
19g.49061498A>CCA406805363NTF4c.500T>G (p.Val167Gly)
c.243+257T>G (n.243+257T>G)
c.530T>G (p.Val177Gly)
n.545T>G
 dbSNP
19g.49061498A>GCA406805364NTF4c.500T>C (p.Val167Ala)
c.243+257T>C (n.243+257T>C)
c.530T>C (p.Val177Ala)
n.545T>C
19g.49061498A>TCA406805366NTF4c.500T>A (p.Val167Glu)
c.243+257T>A (n.243+257T>A)
c.530T>A (p.Val177Glu)
n.545T>A
19g.49061499C>ACA406805367NTF4c.499G>T (p.Val167Leu)
c.243+256G>T (n.243+256G>T)
c.529G>T (p.Val177Leu)
n.544G>T

Number of alleles fetched