UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.192335434C>A | CA355866459 | FGF12 | c.341G>T (p.Arg114Leu) n.408G>T c.155G>T (p.Arg52Leu) n.343G>T n.374G>T c.83G>T (p.Arg28Leu) c.44G>T (p.Arg15Leu) c.233G>T (p.Arg78Leu) c.146G>T (p.Arg49Leu) | dbSNP |
| 3 | g.192335434C= | CA1429666100 | FGF12 | c.341G= (p.Arg114=) n.408G= c.155G= (p.Arg52=) n.343G= n.374G= c.83G= (p.Arg28=) c.44G= (p.Arg15=) c.233G= (p.Arg78=) c.146G= (p.Arg49=) | |
| 3 | g.192335434C>G | CA355866458 | FGF12 | c.341G>C (p.Arg114Pro) n.408G>C c.155G>C (p.Arg52Pro) n.343G>C n.374G>C c.83G>C (p.Arg28Pro) c.44G>C (p.Arg15Pro) c.233G>C (p.Arg78Pro) c.146G>C (p.Arg49Pro) | |
| 3 | g.192335434C>T | CA10588956 | FGF12 | c.341G>A (p.Arg114His) n.408G>A c.155G>A (p.Arg52His) n.343G>A n.374G>A c.83G>A (p.Arg28His) c.44G>A (p.Arg15His) c.233G>A (p.Arg78His) c.146G>A (p.Arg49His) | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.192335435G>A | CA355866460 | FGF12 | c.340C>T (p.Arg114Cys) n.407C>T c.154C>T (p.Arg52Cys) n.342C>T n.373C>T c.82C>T (p.Arg28Cys) c.43C>T (p.Arg15Cys) c.232C>T (p.Arg78Cys) c.145C>T (p.Arg49Cys) | dbSNP gnomAD v4 COSMIC COSMIC |
| 3 | g.192335435G>C | CA355866461 | FGF12 | c.340C>G (p.Arg114Gly) n.407C>G c.154C>G (p.Arg52Gly) n.342C>G n.373C>G c.82C>G (p.Arg28Gly) c.43C>G (p.Arg15Gly) c.232C>G (p.Arg78Gly) c.145C>G (p.Arg49Gly) | |
| 3 | g.192335435G= | CA1429666101 | FGF12 | c.340C= (p.Arg114=) n.407C= c.154C= (p.Arg52=) n.342C= n.373C= c.82C= (p.Arg28=) c.43C= (p.Arg15=) c.232C= (p.Arg78=) c.145C= (p.Arg49=) | |
| 3 | g.192335435G>T | CA355866462 | FGF12 | c.340C>A (p.Arg114Ser) n.407C>A c.154C>A (p.Arg52Ser) n.342C>A n.373C>A c.82C>A (p.Arg28Ser) c.43C>A (p.Arg15Ser) c.232C>A (p.Arg78Ser) c.145C>A (p.Arg49Ser) | COSMIC COSMIC |
| 3 | g.192335436C>A | CA437588983 | FGF12 | c.339G>T (p.Leu113=) n.406G>T c.153G>T (p.Leu51=) n.341G>T n.372G>T c.81G>T (p.Leu27=) c.42G>T (p.Leu14=) c.231G>T (p.Leu77=) c.144G>T (p.Leu48=) | |
| 3 | g.192335436C= | CA1429666102 | FGF12 | c.339G= (p.Leu113=) n.406G= c.153G= (p.Leu51=) n.341G= n.372G= c.81G= (p.Leu27=) c.42G= (p.Leu14=) c.231G= (p.Leu77=) c.144G= (p.Leu48=) | |
| 3 | g.192335436C>G | CA437588984 | FGF12 | c.339G>C (p.Leu113=) n.406G>C c.153G>C (p.Leu51=) n.341G>C n.372G>C c.81G>C (p.Leu27=) c.42G>C (p.Leu14=) c.231G>C (p.Leu77=) c.144G>C (p.Leu48=) | |
| 3 | g.192335436C>T | CA437588986 | FGF12 | c.339G>A (p.Leu113=) n.406G>A c.153G>A (p.Leu51=) n.341G>A n.372G>A c.81G>A (p.Leu27=) c.42G>A (p.Leu14=) c.231G>A (p.Leu77=) c.144G>A (p.Leu48=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.192335437A= | CA1429666103 | FGF12 | c.338T= (p.Leu113=) n.405T= c.152T= (p.Leu51=) n.340T= n.371T= c.80T= (p.Leu27=) c.41T= (p.Leu14=) c.230T= (p.Leu77=) c.143T= (p.Leu48=) | |
| 3 | g.192335437A>C | CA355866463 | FGF12 | c.338T>G (p.Leu113Arg) n.405T>G c.152T>G (p.Leu51Arg) n.340T>G n.371T>G c.80T>G (p.Leu27Arg) c.41T>G (p.Leu14Arg) c.230T>G (p.Leu77Arg) c.143T>G (p.Leu48Arg) | |
| 3 | g.192335437A>G | CA355866464 | FGF12 | c.338T>C (p.Leu113Pro) n.405T>C c.152T>C (p.Leu51Pro) n.340T>C n.371T>C c.80T>C (p.Leu27Pro) c.41T>C (p.Leu14Pro) c.230T>C (p.Leu77Pro) c.143T>C (p.Leu48Pro) | |
| 3 | g.192335437A>T | CA355866465 | FGF12 | c.338T>A (p.Leu113Gln) n.405T>A c.152T>A (p.Leu51Gln) n.340T>A n.371T>A c.80T>A (p.Leu27Gln) c.41T>A (p.Leu14Gln) c.230T>A (p.Leu77Gln) c.143T>A (p.Leu48Gln) | dbSNP COSMIC COSMIC |
| 3 | g.192335438G>A | CA2755803 | FGF12 | c.337C>T (p.Leu113=) n.404C>T c.151C>T (p.Leu51=) n.339C>T n.370C>T c.79C>T (p.Leu27=) c.40C>T (p.Leu14=) c.229C>T (p.Leu77=) c.142C>T (p.Leu48=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.192335438G>C | CA355866466 | FGF12 | c.337C>G (p.Leu113Val) n.404C>G c.151C>G (p.Leu51Val) n.339C>G n.370C>G c.79C>G (p.Leu27Val) c.40C>G (p.Leu14Val) c.229C>G (p.Leu77Val) c.142C>G (p.Leu48Val) | |
| 3 | g.192335438G= | CA1429666104 | FGF12 | c.337C= (p.Leu113=) n.404C= c.151C= (p.Leu51=) n.339C= n.370C= c.79C= (p.Leu27=) c.40C= (p.Leu14=) c.229C= (p.Leu77=) c.142C= (p.Leu48=) | |
| 3 | g.192335438G>T | CA355866467 | FGF12 | c.337C>A (p.Leu113Met) n.404C>A c.151C>A (p.Leu51Met) n.339C>A n.370C>A c.79C>A (p.Leu27Met) c.40C>A (p.Leu14Met) c.229C>A (p.Leu77Met) c.142C>A (p.Leu48Met) | |
| 3 | g.192335439dup | CA548893888 | FGF12 | c.337dup (p.Leu113ProfsTer12) n.404dup c.151dup (p.Leu51ProfsTer12) n.339dup n.370dup c.79dup (p.Leu27ProfsTer12) c.40dup (p.Leu14ProfsTer12) c.229dup (p.Leu77ProfsTer12) c.142dup (p.Leu48ProfsTer12) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.192335439G>A | CA90406251 | FGF12 | c.336C>T (p.Gly112=) n.403C>T c.150C>T (p.Gly50=) n.338C>T n.369C>T c.78C>T (p.Gly26=) c.39C>T (p.Gly13=) c.228C>T (p.Gly76=) c.141C>T (p.Gly47=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.192335439G>C | CA437588990 | FGF12 | c.336C>G (p.Gly112=) n.403C>G c.150C>G (p.Gly50=) n.338C>G n.369C>G c.78C>G (p.Gly26=) c.39C>G (p.Gly13=) c.228C>G (p.Gly76=) c.141C>G (p.Gly47=) | |
| 3 | g.192335439G= | CA1429666105 | FGF12 | c.336C= (p.Gly112=) n.403C= c.150C= (p.Gly50=) n.338C= n.369C= c.78C= (p.Gly26=) c.39C= (p.Gly13=) c.228C= (p.Gly76=) c.141C= (p.Gly47=) | |
| 3 | g.192335439G>T | CA437588992 | FGF12 | c.336C>A (p.Gly112=) n.403C>A c.150C>A (p.Gly50=) n.338C>A n.369C>A c.78C>A (p.Gly26=) c.39C>A (p.Gly13=) c.228C>A (p.Gly76=) c.141C>A (p.Gly47=) | |
| 3 | g.192335440C>A | CA355866468 | FGF12 | c.335G>T (p.Gly112Val) n.402G>T c.149G>T (p.Gly50Val) n.337G>T n.368G>T c.77G>T (p.Gly26Val) c.38G>T (p.Gly13Val) c.227G>T (p.Gly76Val) c.140G>T (p.Gly47Val) | |
| 3 | g.192335440C= | CA1429666106 | FGF12 | c.335G= (p.Gly112=) n.402G= c.149G= (p.Gly50=) n.337G= n.368G= c.77G= (p.Gly26=) c.38G= (p.Gly13=) c.227G= (p.Gly76=) c.140G= (p.Gly47=) | |
| 3 | g.192335440C>G | CA355866469 | FGF12 | c.335G>C (p.Gly112Ala) n.402G>C c.149G>C (p.Gly50Ala) n.337G>C n.368G>C c.77G>C (p.Gly26Ala) c.38G>C (p.Gly13Ala) c.227G>C (p.Gly76Ala) c.140G>C (p.Gly47Ala) | |
| 3 | g.192335440C>T | CA2755804 | FGF12 | c.335G>A (p.Gly112Asp) n.402G>A c.149G>A (p.Gly50Asp) n.337G>A n.368G>A c.77G>A (p.Gly26Asp) c.38G>A (p.Gly13Asp) c.227G>A (p.Gly76Asp) c.140G>A (p.Gly47Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.192335441C>A | CA355866470 | FGF12 | c.334G>T (p.Gly112Cys) n.401G>T c.148G>T (p.Gly50Cys) n.336G>T n.367G>T c.76G>T (p.Gly26Cys) c.37G>T (p.Gly13Cys) c.226G>T (p.Gly76Cys) c.139G>T (p.Gly47Cys) | |
| 3 | g.192335441C= | CA1429666107 | FGF12 | c.334G= (p.Gly112=) n.401G= c.148G= (p.Gly50=) n.336G= n.367G= c.76G= (p.Gly26=) c.37G= (p.Gly13=) c.226G= (p.Gly76=) c.139G= (p.Gly47=) | |
| 3 | g.192335441C>G | CA355866472 | FGF12 | c.334G>C (p.Gly112Arg) n.401G>C c.148G>C (p.Gly50Arg) n.336G>C n.367G>C c.76G>C (p.Gly26Arg) c.37G>C (p.Gly13Arg) c.226G>C (p.Gly76Arg) c.139G>C (p.Gly47Arg) | |
| 3 | g.192335441C>T | CA355866471 | FGF12 | c.334G>A (p.Gly112Ser) n.401G>A c.148G>A (p.Gly50Ser) n.336G>A n.367G>A c.76G>A (p.Gly26Ser) c.37G>A (p.Gly13Ser) c.226G>A (p.Gly76Ser) c.139G>A (p.Gly47Ser) | ClinVar |
| 3 | g.192335442C>A | CA437588994 | FGF12 | c.333G>T (p.Val111=) n.400G>T c.147G>T (p.Val49=) n.335G>T n.366G>T c.75G>T (p.Val25=) c.36G>T (p.Val12=) c.225G>T (p.Val75=) c.138G>T (p.Val46=) | |
| 3 | g.192335442C= | CA1429666108 | FGF12 | c.333G= (p.Val111=) n.400G= c.147G= (p.Val49=) n.335G= n.366G= c.75G= (p.Val25=) c.36G= (p.Val12=) c.225G= (p.Val75=) c.138G= (p.Val46=) | |
| 3 | g.192335442C>G | CA437588996 | FGF12 | c.333G>C (p.Val111=) n.400G>C c.147G>C (p.Val49=) n.335G>C n.366G>C c.75G>C (p.Val25=) c.36G>C (p.Val12=) c.225G>C (p.Val75=) c.138G>C (p.Val46=) | |
| 3 | g.192335442C>T | CA2755805 | FGF12 | c.333G>A (p.Val111=) n.400G>A c.147G>A (p.Val49=) n.335G>A n.366G>A c.75G>A (p.Val25=) c.36G>A (p.Val12=) c.225G>A (p.Val75=) c.138G>A (p.Val46=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.192335443A>C | CA355866473 | FGF12 | c.332T>G (p.Val111Gly) n.399T>G c.146T>G (p.Val49Gly) n.334T>G n.365T>G c.74T>G (p.Val25Gly) c.35T>G (p.Val12Gly) c.224T>G (p.Val75Gly) c.137T>G (p.Val46Gly) | |
| 3 | g.192335443A>G | CA355866474 | FGF12 | c.332T>C (p.Val111Ala) n.399T>C c.146T>C (p.Val49Ala) n.334T>C n.365T>C c.74T>C (p.Val25Ala) c.35T>C (p.Val12Ala) c.224T>C (p.Val75Ala) c.137T>C (p.Val46Ala) | |
| 3 | g.192335443A>T | CA355866475 | FGF12 | c.332T>A (p.Val111Glu) n.399T>A c.146T>A (p.Val49Glu) n.334T>A n.365T>A c.74T>A (p.Val25Glu) c.35T>A (p.Val12Glu) c.224T>A (p.Val75Glu) c.137T>A (p.Val46Glu) | |
| 3 | g.192335444C>A | CA355866476 | FGF12 | c.331G>T (p.Val111Leu) n.398G>T c.145G>T (p.Val49Leu) n.333G>T n.364G>T c.73G>T (p.Val25Leu) c.34G>T (p.Val12Leu) c.223G>T (p.Val75Leu) c.136G>T (p.Val46Leu) | gnomAD v4 |
| 3 | g.192335444C= | CA1429666109 | FGF12 | c.331G= (p.Val111=) n.398G= c.145G= (p.Val49=) n.333G= n.364G= c.73G= (p.Val25=) c.34G= (p.Val12=) c.223G= (p.Val75=) c.136G= (p.Val46=) | |
| 3 | g.192335444C>G | CA90406252 | FGF12 | c.331G>C (p.Val111Leu) n.398G>C c.145G>C (p.Val49Leu) n.333G>C n.364G>C c.73G>C (p.Val25Leu) c.34G>C (p.Val12Leu) c.223G>C (p.Val75Leu) c.136G>C (p.Val46Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.192335444C>T | CA355866477 | FGF12 | c.331G>A (p.Val111Met) n.398G>A c.145G>A (p.Val49Met) n.333G>A n.364G>A c.73G>A (p.Val25Met) c.34G>A (p.Val12Met) c.223G>A (p.Val75Met) c.136G>A (p.Val46Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 3 | g.192335445G>A | CA2755806 | FGF12 | c.330C>T (p.Pro110=) n.397C>T c.144C>T (p.Pro48=) n.332C>T n.363C>T c.72C>T (p.Pro24=) c.33C>T (p.Pro11=) c.222C>T (p.Pro74=) c.135C>T (p.Pro45=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.192335445G>C | CA437588999 | FGF12 | c.330C>G (p.Pro110=) n.397C>G c.144C>G (p.Pro48=) n.332C>G n.363C>G c.72C>G (p.Pro24=) c.33C>G (p.Pro11=) c.222C>G (p.Pro74=) c.135C>G (p.Pro45=) | |
| 3 | g.192335445G= | CA1429666110 | FGF12 | c.330C= (p.Pro110=) n.397C= c.144C= (p.Pro48=) n.332C= n.363C= c.72C= (p.Pro24=) c.33C= (p.Pro11=) c.222C= (p.Pro74=) c.135C= (p.Pro45=) | |
| 3 | g.192335445G>T | CA437589000 | FGF12 | c.330C>A (p.Pro110=) n.397C>A c.144C>A (p.Pro48=) n.332C>A n.363C>A c.72C>A (p.Pro24=) c.33C>A (p.Pro11=) c.222C>A (p.Pro74=) c.135C>A (p.Pro45=) | |
| 3 | g.192335446G>A | CA355866478 | FGF12 | c.329C>T (p.Pro110Leu) n.396C>T c.143C>T (p.Pro48Leu) n.331C>T n.362C>T c.71C>T (p.Pro24Leu) c.32C>T (p.Pro11Leu) c.221C>T (p.Pro74Leu) c.134C>T (p.Pro45Leu) | ClinVar |
| 3 | g.192335446G>C | CA355866479 | FGF12 | c.329C>G (p.Pro110Arg) n.396C>G c.143C>G (p.Pro48Arg) n.331C>G n.362C>G c.71C>G (p.Pro24Arg) c.32C>G (p.Pro11Arg) c.221C>G (p.Pro74Arg) c.134C>G (p.Pro45Arg) |