Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.108929199_108929380del | CA2586969751 | EDAR,RANBP2 | c.175_356del c.226_407del c.319_500del c.8370+156153_8370+156334del (n.8370+156153_8370+156334del) | |
2 | g.108929353_108929355del | CA754906521 | EDAR,RANBP2 | c.201_203del (p.Glu67del) c.252_254del (p.Glu84del) c.345_347del (p.Glu115del) c.8370+156307_8370+156309del (n.8370+156307_8370+156309del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.108929354T>A | CA348115869 | EDAR,RANBP2 | c.200A>T (p.Glu67Val) c.251A>T (p.Glu84Val) c.344A>T (p.Glu115Val) c.8370+156308T>A (n.8370+156308T>A) | |
2 | g.108929354T>C | CA348115870 | EDAR,RANBP2 | c.200A>G (p.Glu67Gly) c.251A>G (p.Glu84Gly) c.344A>G (p.Glu115Gly) c.8370+156308T>C (n.8370+156308T>C) | |
2 | g.108929354T>G | CA348115871 | EDAR,RANBP2 | c.200A>C (p.Glu67Ala) c.251A>C (p.Glu84Ala) c.344A>C (p.Glu115Ala) c.8370+156308T>G (n.8370+156308T>G) | |
2 | g.108929355C>A | CA348115874 | EDAR,RANBP2 | c.199G>T (p.Glu67Ter) c.250G>T (p.Glu84Ter) c.343G>T (p.Glu115Ter) c.8370+156309C>A (n.8370+156309C>A) | |
2 | g.108929355C= | CA1278368594 | EDAR,RANBP2 | c.199G= (p.Glu67=) c.250G= (p.Glu84=) c.343G= (p.Glu115=) c.8370+156309C= (n.8370+156309C=) | |
2 | g.108929355C>G | CA348115872 | EDAR,RANBP2 | c.199G>C (p.Glu67Gln) c.250G>C (p.Glu84Gln) c.343G>C (p.Glu115Gln) c.8370+156309C>G (n.8370+156309C>G) | |
2 | g.108929355C>T | CA348115873 | EDAR,RANBP2 | c.199G>A (p.Glu67Lys) c.250G>A (p.Glu84Lys) c.343G>A (p.Glu115Lys) c.8370+156309C>T (n.8370+156309C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.108929356G>A | CA1825154 | EDAR,RANBP2 | c.198C>T (p.Asp66=) c.249C>T (p.Asp83=) c.342C>T (p.Asp114=) c.8370+156310G>A (n.8370+156310G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929356G>C | CA348115875 | EDAR,RANBP2 | c.198C>G (p.Asp66Glu) c.249C>G (p.Asp83Glu) c.342C>G (p.Asp114Glu) c.8370+156310G>C (n.8370+156310G>C) | |
2 | g.108929356G= | CA1278368595 | EDAR,RANBP2 | c.198C= (p.Asp66=) c.249C= (p.Asp83=) c.342C= (p.Asp114=) c.8370+156310G= (n.8370+156310G=) | |
2 | g.108929356G>T | CA348115876 | EDAR,RANBP2 | c.198C>A (p.Asp66Glu) c.249C>A (p.Asp83Glu) c.342C>A (p.Asp114Glu) c.8370+156310G>T (n.8370+156310G>T) | |
2 | g.108929358_108929364del | CA2660611278 | EDAR,RANBP2 | c.192_198del (p.Lys65ArgfsTer?) c.243_249del (p.Lys82ArgfsTer?) c.336_342del (p.Lys113ArgfsTer?) c.8370+156312_8370+156318del (n.8370+156312_8370+156318del) | gnomAD v4 |
2 | g.108929357T>A | CA348115877 | EDAR,RANBP2 | c.197A>T (p.Asp66Val) c.248A>T (p.Asp83Val) c.341A>T (p.Asp114Val) c.8370+156311T>A (n.8370+156311T>A) | gnomAD v4 |
2 | g.108929357T>C | CA348115878 | EDAR,RANBP2 | c.197A>G (p.Asp66Gly) c.248A>G (p.Asp83Gly) c.341A>G (p.Asp114Gly) c.8370+156311T>C (n.8370+156311T>C) | gnomAD v4 |
2 | g.108929357T>G | CA348115879 | EDAR,RANBP2 | c.197A>C (p.Asp66Ala) c.248A>C (p.Asp83Ala) c.341A>C (p.Asp114Ala) c.8370+156311T>G (n.8370+156311T>G) | |
2 | g.108929357T= | CA1278368596 | EDAR,RANBP2 | c.197A= (p.Asp66=) c.248A= (p.Asp83=) c.341A= (p.Asp114=) c.8370+156311T= (n.8370+156311T=) | |
2 | g.108929358C>A | CA348115880 | EDAR,RANBP2 | c.196G>T (p.Asp66Tyr) c.247G>T (p.Asp83Tyr) c.340G>T (p.Asp114Tyr) c.8370+156312C>A (n.8370+156312C>A) | |
2 | g.108929358C>G | CA348115881 | EDAR,RANBP2 | c.196G>C (p.Asp66His) c.247G>C (p.Asp83His) c.340G>C (p.Asp114His) c.8370+156312C>G (n.8370+156312C>G) | |
2 | g.108929358C>T | CA348115882 | EDAR,RANBP2 | c.196G>A (p.Asp66Asn) c.247G>A (p.Asp83Asn) c.340G>A (p.Asp114Asn) c.8370+156312C>T (n.8370+156312C>T) | |
2 | g.108929358dup | CA1825155 | EDAR,RANBP2 | c.196dup (p.Asp66GlyfsTer29) c.247dup (p.Asp83GlyfsTer29) c.340dup (p.Asp114GlyfsTer29) c.8370+156312dup (n.8370+156312dup) | dbSNP ExAC |
2 | g.108929359T>A | CA348115883 | EDAR,RANBP2 | c.195A>T (p.Lys65Asn) c.246A>T (p.Lys82Asn) c.339A>T (p.Lys113Asn) c.8370+156313T>A (n.8370+156313T>A) | |
2 | g.108929359T>C | CA428086898 | EDAR,RANBP2 | c.195A>G (p.Lys65=) c.246A>G (p.Lys82=) c.339A>G (p.Lys113=) c.8370+156313T>C (n.8370+156313T>C) | |
2 | g.108929359T>G | CA348115884 | EDAR,RANBP2 | c.195A>C (p.Lys65Asn) c.246A>C (p.Lys82Asn) c.339A>C (p.Lys113Asn) c.8370+156313T>G (n.8370+156313T>G) | |
2 | g.108929359T= | CA1278368597 | EDAR,RANBP2 | c.195A= (p.Lys65=) c.246A= (p.Lys82=) c.339A= (p.Lys113=) c.8370+156313T= (n.8370+156313T=) | |
2 | g.108929360T>A | CA348115885 | EDAR,RANBP2 | c.194A>T (p.Lys65Ile) c.245A>T (p.Lys82Ile) c.338A>T (p.Lys113Ile) c.8370+156314T>A (n.8370+156314T>A) | |
2 | g.108929360T>C | CA348115887 | EDAR,RANBP2 | c.194A>G (p.Lys65Arg) c.245A>G (p.Lys82Arg) c.338A>G (p.Lys113Arg) c.8370+156314T>C (n.8370+156314T>C) | |
2 | g.108929360T>G | CA348115886 | EDAR,RANBP2 | c.194A>C (p.Lys65Thr) c.245A>C (p.Lys82Thr) c.338A>C (p.Lys113Thr) c.8370+156314T>G (n.8370+156314T>G) | |
2 | g.108929360_108929361insAGCAAGCTACCAT | CA1825156 | EDAR,RANBP2 | c.194_195insTGGTAGCTTGCTA (p.Lys65AsnfsTer34) c.245_246insTGGTAGCTTGCTA (p.Lys82AsnfsTer34) c.338_339insTGGTAGCTTGCTA (p.Lys113AsnfsTer34) c.8370+156314_8370+156315insAGCAAGCTACCAT (n.8370+156314_8370+156315insAGCAAGCTACCAT) | dbSNP ExAC |
2 | g.108929361T>A | CA348115889 | EDAR,RANBP2 | c.193A>T (p.Lys65Ter) c.244A>T (p.Lys82Ter) c.337A>T (p.Lys113Ter) c.8370+156315T>A (n.8370+156315T>A) | |
2 | g.108929361T>C | CA348115888 | EDAR,RANBP2 | c.193A>G (p.Lys65Glu) c.244A>G (p.Lys82Glu) c.337A>G (p.Lys113Glu) c.8370+156315T>C (n.8370+156315T>C) | |
2 | g.108929361T>G | CA348115890 | EDAR,RANBP2 | c.193A>C (p.Lys65Gln) c.244A>C (p.Lys82Gln) c.337A>C (p.Lys113Gln) c.8370+156315T>G (n.8370+156315T>G) | |
2 | g.108929362G>A | CA428086900 | EDAR,RANBP2 | c.192C>T (p.Thr64=) c.243C>T (p.Thr81=) c.336C>T (p.Thr112=) c.8370+156316G>A (n.8370+156316G>A) | |
2 | g.108929362G>C | CA428086901 | EDAR,RANBP2 | c.192C>G (p.Thr64=) c.243C>G (p.Thr81=) c.336C>G (p.Thr112=) c.8370+156316G>C (n.8370+156316G>C) | |
2 | g.108929362G>T | CA428086902 | EDAR,RANBP2 | c.192C>A (p.Thr64=) c.243C>A (p.Thr81=) c.336C>A (p.Thr112=) c.8370+156316G>T (n.8370+156316G>T) | |
2 | g.108929363G>A | CA1825157 | EDAR,RANBP2 | c.191C>T (p.Thr64Ile) c.242C>T (p.Thr81Ile) c.335C>T (p.Thr112Ile) c.8370+156317G>A (n.8370+156317G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.108929363G>C | CA348115891 | EDAR,RANBP2 | c.191C>G (p.Thr64Ser) c.242C>G (p.Thr81Ser) c.335C>G (p.Thr112Ser) c.8370+156317G>C (n.8370+156317G>C) | |
2 | g.108929363G= | CA1278368598 | EDAR,RANBP2 | c.191C= (p.Thr64=) c.242C= (p.Thr81=) c.335C= (p.Thr112=) c.8370+156317G= (n.8370+156317G=) | |
2 | g.108929363G>T | CA348115892 | EDAR,RANBP2 | c.191C>A (p.Thr64Asn) c.242C>A (p.Thr81Asn) c.335C>A (p.Thr112Asn) c.8370+156317G>T (n.8370+156317G>T) | |
2 | g.108929364T>A | CA348115893 | EDAR,RANBP2 | c.190A>T (p.Thr64Ser) c.241A>T (p.Thr81Ser) c.334A>T (p.Thr112Ser) c.8370+156318T>A (n.8370+156318T>A) | |
2 | g.108929364T>C | CA348115894 | EDAR,RANBP2 | c.190A>G (p.Thr64Ala) c.241A>G (p.Thr81Ala) c.334A>G (p.Thr112Ala) c.8370+156318T>C (n.8370+156318T>C) | |
2 | g.108929364T>G | CA348115895 | EDAR,RANBP2 | c.190A>C (p.Thr64Pro) c.241A>C (p.Thr81Pro) c.334A>C (p.Thr112Pro) c.8370+156318T>G (n.8370+156318T>G) | gnomAD v4 |
2 | g.108929364_108929365insCATGAAAACCAACTAAT | CA1825158 | EDAR,RANBP2 | c.190_191insTTAGTTGGTTTTCATGA (p.Thr64IlefsTer6) c.241_242insTTAGTTGGTTTTCATGA (p.Thr81IlefsTer6) c.334_335insTTAGTTGGTTTTCATGA (p.Thr112IlefsTer6) c.8370+156318_8370+156319insCATGAAAACCAACTAAT (n.8370+156318_8370+156319insCATGAAAACCAACTAAT) | dbSNP ExAC |
2 | g.108929365G>A | CA428086905 | EDAR,RANBP2 | c.189C>T (p.Gly63=) c.240C>T (p.Gly80=) c.333C>T (p.Gly111=) c.8370+156319G>A (n.8370+156319G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.108929365G>C | CA428086906 | EDAR,RANBP2 | c.189C>G (p.Gly63=) c.240C>G (p.Gly80=) c.333C>G (p.Gly111=) c.8370+156319G>C (n.8370+156319G>C) | |
2 | g.108929365G= | CA1278368599 | EDAR,RANBP2 | c.189C= (p.Gly63=) c.240C= (p.Gly80=) c.333C= (p.Gly111=) c.8370+156319G= (n.8370+156319G=) | |
2 | g.108929365G>T | CA428086904 | EDAR,RANBP2 | c.189C>A (p.Gly63=) c.240C>A (p.Gly80=) c.333C>A (p.Gly111=) c.8370+156319G>T (n.8370+156319G>T) | |
2 | g.108929366C>A | CA348115896 | EDAR,RANBP2 | c.188G>T (p.Gly63Val) c.239G>T (p.Gly80Val) c.332G>T (p.Gly111Val) c.8370+156320C>A (n.8370+156320C>A) | |
2 | g.108929366C>G | CA348115897 | EDAR,RANBP2 | c.188G>C (p.Gly63Ala) c.239G>C (p.Gly80Ala) c.332G>C (p.Gly111Ala) c.8370+156320C>G (n.8370+156320C>G) |