Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169541905_169541907delCA2649035426F5c.3187_3189del (p.Arg1063del)
c.3202_3204del (p.Arg1068del)
c.2776_2778del (p.Arg926del)
gnomAD v4
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)
1g.169541912_169541913insCCATAATCAGAATTCCTCCA2517932995F5c.3177_3178insGAGGAATTCTGATTATGG
c.3192_3193insGAGGAATTCTGATTATGG
c.2766_2767insGAGGAATTCTGATTATGG
1g.169541913A>CCA343119111F5c.3177T>G (p.Phe1059Leu)
c.3192T>G (p.Phe1064Leu)
c.2766T>G (p.Phe922Leu)
1g.169541913A>GCA421930635F5c.3177T>C (p.Phe1059=)
c.3192T>C (p.Phe1064=)
c.2766T>C (p.Phe922=)
1g.169541913A>TCA343119112F5c.3177T>A (p.Phe1059Leu)
c.3192T>A (p.Phe1064Leu)
c.2766T>A (p.Phe922Leu)
1g.169541914A>CCA343119113F5c.3176T>G (p.Phe1059Cys)
c.3191T>G (p.Phe1064Cys)
c.2765T>G (p.Phe922Cys)
1g.169541914A>GCA343119114F5c.3176T>C (p.Phe1059Ser)
c.3191T>C (p.Phe1064Ser)
c.2765T>C (p.Phe922Ser)
1g.169541914A>TCA343119115F5c.3176T>A (p.Phe1059Tyr)
c.3191T>A (p.Phe1064Tyr)
c.2765T>A (p.Phe922Tyr)
1g.169541915A>CCA343119116F5c.3175T>G (p.Phe1059Val)
c.3190T>G (p.Phe1064Val)
c.2764T>G (p.Phe922Val)
1g.169541915A>GCA343119118F5c.3175T>C (p.Phe1059Leu)
c.3190T>C (p.Phe1064Leu)
c.2764T>C (p.Phe922Leu)
1g.169541915A>TCA343119117F5c.3175T>A (p.Phe1059Ile)
c.3190T>A (p.Phe1064Ile)
c.2764T>A (p.Phe922Ile)
1g.169541915_169541920delinsATGTGTCA1206132524F5c.3170_3175delinsACACAT (p.Asn1057=)
c.3185_3190delinsACACAT (p.Asn1062=)
c.2759_2764delinsACACAT (p.Asn920=)
1g.169541916T>ACA421930638F5c.3174A>T (p.Thr1058=)
c.3189A>T (p.Thr1063=)
c.2763A>T (p.Thr921=)
dbSNP
1g.169541916T>CCA1233958F5c.3174A>G (p.Thr1058=)
c.3189A>G (p.Thr1063=)
c.2763A>G (p.Thr921=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched