Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.31070146T>A | CA391537333 | TRPM1 | c.98A>T (p.Lys33Ile) c.215A>T (p.Lys72Ile) c.164A>T (p.Lys55Ile) | |
15 | g.31070146T>C | CA391537335 | TRPM1 | c.98A>G (p.Lys33Arg) c.215A>G (p.Lys72Arg) c.164A>G (p.Lys55Arg) | |
15 | g.31070146T>G | CA391537336 | TRPM1 | c.98A>C (p.Lys33Thr) c.215A>C (p.Lys72Thr) c.164A>C (p.Lys55Thr) | |
15 | g.31070147T>A | CA7453066 | TRPM1 | c.97A>T (p.Lys33Ter) c.214A>T (p.Lys72Ter) c.163A>T (p.Lys55Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070147T>C | CA391537340 | TRPM1 | c.97A>G (p.Lys33Glu) c.214A>G (p.Lys72Glu) c.163A>G (p.Lys55Glu) | |
15 | g.31070147T>G | CA391537343 | TRPM1 | c.97A>C (p.Lys33Gln) c.214A>C (p.Lys72Gln) c.163A>C (p.Lys55Gln) | gnomAD v4 |
15 | g.31070147T= | CA2167784166 | TRPM1 | c.97A= (p.Lys33=) c.214A= (p.Lys72=) c.163A= (p.Lys55=) | |
15 | g.31070148G>A | CA489644917 | TRPM1 | c.96C>T (p.Ser32=) c.213C>T (p.Ser71=) c.162C>T (p.Ser54=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070148G>C | CA391537344 | TRPM1 | c.96C>G (p.Ser32Arg) c.213C>G (p.Ser71Arg) c.162C>G (p.Ser54Arg) | |
15 | g.31070148G= | CA2167784167 | TRPM1 | c.96C= (p.Ser32=) c.213C= (p.Ser71=) c.162C= (p.Ser54=) | |
15 | g.31070148G>T | CA391537346 | TRPM1 | c.96C>A (p.Ser32Arg) c.213C>A (p.Ser71Arg) c.162C>A (p.Ser54Arg) | |
15 | g.31070148_31070149delinsAT | CA267502093 | TRPM1 | c.95_96delinsAT (p.Ser32Asn) c.212_213delinsAT (p.Ser71Asn) c.161_162delinsAT (p.Ser54Asn) | dbSNP |
15 | g.31070148_31070149delinsGC | CA2167784168 | TRPM1 | c.95_96delinsGC (p.Ser32=) c.212_213delinsGC (p.Ser71=) c.161_162delinsGC (p.Ser54=) | |
15 | g.31070149C>A | CA391537347 | TRPM1 | c.95G>T (p.Ser32Ile) c.212G>T (p.Ser71Ile) c.161G>T (p.Ser54Ile) | dbSNP |
15 | g.31070149C= | CA2167784169 | TRPM1 | c.95G= (p.Ser32=) c.212G= (p.Ser71=) c.161G= (p.Ser54=) | |
15 | g.31070149C>G | CA391537350 | TRPM1 | c.95G>C (p.Ser32Thr) c.212G>C (p.Ser71Thr) c.161G>C (p.Ser54Thr) | dbSNP |
15 | g.31070149C>T | CA202314 | TRPM1 | c.95G>A (p.Ser32Asn) c.212G>A (p.Ser71Asn) c.161G>A (p.Ser54Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070149_31070152delinsCTTT | CA2167784170 | TRPM1 | c.92_95delinsAAAG (p.Glu31=) c.209_212delinsAAAG (p.Glu70=) c.158_161delinsAAAG (p.Glu53=) | |
15 | g.31070150T>A | CA391537352 | TRPM1 | c.94A>T (p.Ser32Cys) c.211A>T (p.Ser71Cys) c.160A>T (p.Ser54Cys) | |
15 | g.31070150T>C | CA391537355 | TRPM1 | c.94A>G (p.Ser32Gly) c.211A>G (p.Ser71Gly) c.160A>G (p.Ser54Gly) | |
15 | g.31070150T>G | CA391537356 | TRPM1 | c.94A>C (p.Ser32Arg) c.211A>C (p.Ser71Arg) c.160A>C (p.Ser54Arg) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070150T= | CA2167784171 | TRPM1 | c.94A= (p.Ser32=) c.211A= (p.Ser71=) c.160A= (p.Ser54=) | |
15 | g.31070150_31070152del | CA7453067 | TRPM1 | c.92_94del (p.Glu31_Ser32delinsGly) c.209_211del (p.Glu70_Ser71delinsGly) c.158_160del (p.Glu53_Ser54delinsGly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070151T>A | CA391537358 | TRPM1 | c.93A>T (p.Glu31Asp) c.210A>T (p.Glu70Asp) c.159A>T (p.Glu53Asp) | |
15 | g.31070151T>C | CA489644925 | TRPM1 | c.93A>G (p.Glu31=) c.210A>G (p.Glu70=) c.159A>G (p.Glu53=) | |
15 | g.31070151T>G | CA391537361 | TRPM1 | c.93A>C (p.Glu31Asp) c.210A>C (p.Glu70Asp) c.159A>C (p.Glu53Asp) | |
15 | g.31070152T>A | CA391537363 | TRPM1 | c.92A>T (p.Glu31Val) c.209A>T (p.Glu70Val) c.158A>T (p.Glu53Val) | |
15 | g.31070152T>C | CA391537365 | TRPM1 | c.92A>G (p.Glu31Gly) c.209A>G (p.Glu70Gly) c.158A>G (p.Glu53Gly) | |
15 | g.31070152T>G | CA391537367 | TRPM1 | c.92A>C (p.Glu31Ala) c.209A>C (p.Glu70Ala) c.158A>C (p.Glu53Ala) | |
15 | g.31070152T= | CA2167784172 | TRPM1 | c.92A= (p.Glu31=) c.209A= (p.Glu70=) c.158A= (p.Glu53=) | |
15 | g.31070153C>A | CA391537369 | TRPM1 | c.91G>T (p.Glu31Ter) c.208G>T (p.Glu70Ter) c.157G>T (p.Glu53Ter) | |
15 | g.31070153C>G | CA391537371 | TRPM1 | c.91G>C (p.Glu31Gln) c.208G>C (p.Glu70Gln) c.157G>C (p.Glu53Gln) | |
15 | g.31070153C>T | CA391537372 | TRPM1 | c.91G>A (p.Glu31Lys) c.208G>A (p.Glu70Lys) c.157G>A (p.Glu53Lys) | |
15 | g.31070154_31070155insCCCC | CA7453068 | TRPM1 | c.91_92insGGGG (p.Glu31GlyfsTer11) c.208_209insGGGG (p.Glu70GlyfsTer11) c.157_158insGGGG (p.Glu53GlyfsTer11) | dbSNP ExAC gnomAD v2 |
15 | g.31070154C>A | CA391537374 | TRPM1 | c.90G>T (p.Glu30Asp) c.207G>T (p.Glu69Asp) c.156G>T (p.Glu52Asp) | |
15 | g.31070154C= | CA2167784173 | TRPM1 | c.90G= (p.Glu30=) c.207G= (p.Glu69=) c.156G= (p.Glu52=) | |
15 | g.31070154C>G | CA391537376 | TRPM1 | c.90G>C (p.Glu30Asp) c.207G>C (p.Glu69Asp) c.156G>C (p.Glu52Asp) | |
15 | g.31070154C>T | CA489644926 | TRPM1 | c.90G>A (p.Glu30=) c.207G>A (p.Glu69=) c.156G>A (p.Glu52=) | dbSNP gnomAD v4 |
15 | g.31070155T>A | CA7453069 | TRPM1 | c.89A>T (p.Glu30Val) c.206A>T (p.Glu69Val) c.155A>T (p.Glu52Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070155T>C | CA391537379 | TRPM1 | c.89A>G (p.Glu30Gly) c.206A>G (p.Glu69Gly) c.155A>G (p.Glu52Gly) | |
15 | g.31070155T>G | CA391537381 | TRPM1 | c.89A>C (p.Glu30Ala) c.206A>C (p.Glu69Ala) c.155A>C (p.Glu52Ala) | |
15 | g.31070155T= | CA2167784174 | TRPM1 | c.89A= (p.Glu30=) c.206A= (p.Glu69=) c.155A= (p.Glu52=) | |
15 | g.31070156C>A | CA391537382 | TRPM1 | c.88G>T (p.Glu30Ter) c.205G>T (p.Glu69Ter) c.154G>T (p.Glu52Ter) | |
15 | g.31070156C>G | CA391537383 | TRPM1 | c.88G>C (p.Glu30Gln) c.205G>C (p.Glu69Gln) c.154G>C (p.Glu52Gln) | |
15 | g.31070156C>T | CA391537384 | TRPM1 | c.88G>A (p.Glu30Lys) c.205G>A (p.Glu69Lys) c.154G>A (p.Glu52Lys) | |
15 | g.31070157T>A | CA391537385 | TRPM1 | c.87A>T (p.Glu29Asp) c.204A>T (p.Glu68Asp) c.153A>T (p.Glu51Asp) | |
15 | g.31070157T>C | CA489644927 | TRPM1 | c.87A>G (p.Glu29=) c.204A>G (p.Glu68=) c.153A>G (p.Glu51=) | |
15 | g.31070157T>G | CA391537386 | TRPM1 | c.87A>C (p.Glu29Asp) c.204A>C (p.Glu68Asp) c.153A>C (p.Glu51Asp) | |
15 | g.31070158T>A | CA391537387 | TRPM1 | c.86A>T (p.Glu29Val) c.203A>T (p.Glu68Val) c.152A>T (p.Glu51Val) | |
15 | g.31070158T>C | CA391537388 | TRPM1 | c.86A>G (p.Glu29Gly) c.203A>G (p.Glu68Gly) c.152A>G (p.Glu51Gly) | gnomAD v3 gnomAD v4 |
15 | g.31070158T>G | CA391537389 | TRPM1 | c.86A>C (p.Glu29Ala) c.203A>C (p.Glu68Ala) c.152A>C (p.Glu51Ala) | |
15 | g.31070159C>A | CA391537390 | TRPM1 | c.85G>T (p.Glu29Ter) c.202G>T (p.Glu68Ter) c.151G>T (p.Glu51Ter) | |
15 | g.31070159C>G | CA391537391 | TRPM1 | c.85G>C (p.Glu29Gln) c.202G>C (p.Glu68Gln) c.151G>C (p.Glu51Gln) | |
15 | g.31070159C>T | CA391537392 | TRPM1 | c.85G>A (p.Glu29Lys) c.202G>A (p.Glu68Lys) c.151G>A (p.Glu51Lys) | gnomAD v4 COSMIC |
15 | g.31070160A= | CA2167784175 | TRPM1 | c.84T= (p.Asn28=) c.201T= (p.Asn67=) c.150T= (p.Asn50=) | |
15 | g.31070160A>C | CA391537393 | TRPM1 | c.84T>G (p.Asn28Lys) c.201T>G (p.Asn67Lys) c.150T>G (p.Asn50Lys) | dbSNP gnomAD v4 |
15 | g.31070160A>G | CA489644928 | TRPM1 | c.84T>C (p.Asn28=) c.201T>C (p.Asn67=) c.150T>C (p.Asn50=) | gnomAD v4 |
15 | g.31070160A>T | CA391537394 | TRPM1 | c.84T>A (p.Asn28Lys) c.201T>A (p.Asn67Lys) c.150T>A (p.Asn50Lys) | |
15 | g.31070161T>A | CA391537395 | TRPM1 | c.83A>T (p.Asn28Ile) c.200A>T (p.Asn67Ile) c.149A>T (p.Asn50Ile) | dbSNP |
15 | g.31070161T>C | CA391537396 | TRPM1 | c.83A>G (p.Asn28Ser) c.200A>G (p.Asn67Ser) c.149A>G (p.Asn50Ser) | |
15 | g.31070161T>G | CA391537397 | TRPM1 | c.83A>C (p.Asn28Thr) c.200A>C (p.Asn67Thr) c.149A>C (p.Asn50Thr) | |
15 | g.31070161T= | CA2167784176 | TRPM1 | c.83A= (p.Asn28=) c.200A= (p.Asn67=) c.149A= (p.Asn50=) | |
15 | g.31070165del | CA2573320497 | TRPM1 | c.83del (p.Asn28MetfsTer?) c.200del (p.Asn67MetfsTer?) c.149del (p.Asn50MetfsTer?) | |
15 | g.31070162T>A | CA391537398 | TRPM1 | c.82A>T (p.Asn28Tyr) c.199A>T (p.Asn67Tyr) c.148A>T (p.Asn50Tyr) | |
15 | g.31070162T>C | CA391537399 | TRPM1 | c.82A>G (p.Asn28Asp) c.199A>G (p.Asn67Asp) c.148A>G (p.Asn50Asp) | |
15 | g.31070162T>G | CA391537400 | TRPM1 | c.82A>C (p.Asn28His) c.199A>C (p.Asn67His) c.148A>C (p.Asn50His) | |
15 | g.31070163T>A | CA391537401 | TRPM1 | c.81A>T (p.Lys27Asn) c.198A>T (p.Lys66Asn) c.147A>T (p.Lys49Asn) | |
15 | g.31070163T>C | CA489644929 | TRPM1 | c.81A>G (p.Lys27=) c.198A>G (p.Lys66=) c.147A>G (p.Lys49=) | |
15 | g.31070163T>G | CA391537402 | TRPM1 | c.81A>C (p.Lys27Asn) c.198A>C (p.Lys66Asn) c.147A>C (p.Lys49Asn) | |
15 | g.31070164T>A | CA391537403 | TRPM1 | c.80A>T (p.Lys27Ile) c.197A>T (p.Lys66Ile) c.146A>T (p.Lys49Ile) | |
15 | g.31070164T>C | CA391537404 | TRPM1 | c.80A>G (p.Lys27Arg) c.197A>G (p.Lys66Arg) c.146A>G (p.Lys49Arg) | gnomAD v4 |
15 | g.31070164T>G | CA391537405 | TRPM1 | c.80A>C (p.Lys27Thr) c.197A>C (p.Lys66Thr) c.146A>C (p.Lys49Thr) | |
15 | g.31070165T>A | CA391537406 | TRPM1 | c.79A>T (p.Lys27Ter) c.196A>T (p.Lys66Ter) c.145A>T (p.Lys49Ter) | |
15 | g.31070165T>C | CA391537409 | TRPM1 | c.79A>G (p.Lys27Glu) c.196A>G (p.Lys66Glu) c.145A>G (p.Lys49Glu) | |
15 | g.31070165T>G | CA391537411 | TRPM1 | c.79A>C (p.Lys27Gln) c.196A>C (p.Lys66Gln) c.145A>C (p.Lys49Gln) | |
15 | g.31070166G>A | CA489644930 | TRPM1 | c.78C>T (p.Ser26=) c.195C>T (p.Ser65=) c.144C>T (p.Ser48=) | dbSNP gnomAD v2 |
15 | g.31070166G>C | CA391537415 | TRPM1 | c.78C>G (p.Ser26Arg) c.195C>G (p.Ser65Arg) c.144C>G (p.Ser48Arg) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070166G= | CA2167784177 | TRPM1 | c.78C= (p.Ser26=) c.195C= (p.Ser65=) c.144C= (p.Ser48=) | |
15 | g.31070166G>T | CA391537417 | TRPM1 | c.78C>A (p.Ser26Arg) c.195C>A (p.Ser65Arg) c.144C>A (p.Ser48Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070167C>A | CA391537421 | TRPM1 | c.77G>T (p.Ser26Ile) c.194G>T (p.Ser65Ile) c.143G>T (p.Ser48Ile) | |
15 | g.31070167C= | CA2167784178 | TRPM1 | c.77G= (p.Ser26=) c.194G= (p.Ser65=) c.143G= (p.Ser48=) | |
15 | g.31070167C>G | CA391537424 | TRPM1 | c.77G>C (p.Ser26Thr) c.194G>C (p.Ser65Thr) c.143G>C (p.Ser48Thr) | |
15 | g.31070167C>T | CA7453070 | TRPM1 | c.77G>A (p.Ser26Asn) c.194G>A (p.Ser65Asn) c.143G>A (p.Ser48Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070168T>A | CA391537428 | TRPM1 | c.76A>T (p.Ser26Cys) c.193A>T (p.Ser65Cys) c.142A>T (p.Ser48Cys) | |
15 | g.31070168T>C | CA391537430 | TRPM1 | c.76A>G (p.Ser26Gly) c.193A>G (p.Ser65Gly) c.142A>G (p.Ser48Gly) | dbSNP |
15 | g.31070168T>G | CA391537435 | TRPM1 | c.76A>C (p.Ser26Arg) c.193A>C (p.Ser65Arg) c.142A>C (p.Ser48Arg) | |
15 | g.31070168T= | CA2167784179 | TRPM1 | c.76A= (p.Ser26=) c.193A= (p.Ser65=) c.142A= (p.Ser48=) | |
15 | g.31070169G>A | CA489644932 | TRPM1 | c.75C>T (p.Pro25=) c.192C>T (p.Pro64=) c.141C>T (p.Pro47=) | dbSNP |
15 | g.31070169G>C | CA489644931 | TRPM1 | c.75C>G (p.Pro25=) c.192C>G (p.Pro64=) c.141C>G (p.Pro47=) | |
15 | g.31070169G= | CA2167784180 | TRPM1 | c.75C= (p.Pro25=) c.192C= (p.Pro64=) c.141C= (p.Pro47=) | |
15 | g.31070169G>T | CA489644933 | TRPM1 | c.75C>A (p.Pro25=) c.192C>A (p.Pro64=) c.141C>A (p.Pro47=) | gnomAD v3 gnomAD v4 |
15 | g.31070170G>A | CA391537436 | TRPM1 | c.74C>T (p.Pro25Leu) c.191C>T (p.Pro64Leu) c.140C>T (p.Pro47Leu) | |
15 | g.31070170G>C | CA391537440 | TRPM1 | c.74C>G (p.Pro25Arg) c.191C>G (p.Pro64Arg) c.140C>G (p.Pro47Arg) | |
15 | g.31070170G>T | CA391537444 | TRPM1 | c.74C>A (p.Pro25His) c.191C>A (p.Pro64His) c.140C>A (p.Pro47His) | gnomAD v3 gnomAD v4 |
15 | g.31070171G>A | CA391537447 | TRPM1 | c.73C>T (p.Pro25Ser) c.190C>T (p.Pro64Ser) c.139C>T (p.Pro47Ser) | |
15 | g.31070171G>C | CA391537450 | TRPM1 | c.73C>G (p.Pro25Ala) c.190C>G (p.Pro64Ala) c.139C>G (p.Pro47Ala) | |
15 | g.31070171G>T | CA391537453 | TRPM1 | c.73C>A (p.Pro25Thr) c.190C>A (p.Pro64Thr) c.139C>A (p.Pro47Thr) | |
15 | g.31070172T>A | CA489644935 | TRPM1 | c.72A>T (p.Thr24=) c.189A>T (p.Thr63=) c.138A>T (p.Thr46=) | |
15 | g.31070172T>C | CA7453071 | TRPM1 | c.72A>G (p.Thr24=) c.189A>G (p.Thr63=) c.138A>G (p.Thr46=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070172T>G | CA489644934 | TRPM1 | c.72A>C (p.Thr24=) c.189A>C (p.Thr63=) c.138A>C (p.Thr46=) | |
15 | g.31070172T= | CA2167784181 | TRPM1 | c.72A= (p.Thr24=) c.189A= (p.Thr63=) c.138A= (p.Thr46=) | |
15 | g.31070172dup | CA2627517266 | TRPM1 | c.72dup (p.Pro25ThrfsTer5) c.189dup (p.Pro64ThrfsTer5) c.138dup (p.Pro47ThrfsTer5) | gnomAD v4 |
15 | g.31070173G>A | CA391537463 | TRPM1 | c.71C>T (p.Thr24Ile) c.188C>T (p.Thr63Ile) c.137C>T (p.Thr46Ile) | gnomAD v4 |
15 | g.31070173G>C | CA391537459 | TRPM1 | c.71C>G (p.Thr24Arg) c.188C>G (p.Thr63Arg) c.137C>G (p.Thr46Arg) | |
15 | g.31070173G>T | CA391537465 | TRPM1 | c.71C>A (p.Thr24Lys) c.188C>A (p.Thr63Lys) c.137C>A (p.Thr46Lys) | |
15 | g.31070173dup | CA617553146 | TRPM1 | c.71dup (p.Pro25ThrfsTer5) c.188dup (p.Pro64ThrfsTer5) c.137dup (p.Pro47ThrfsTer5) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070174T>A | CA391537471 | TRPM1 | c.70A>T (p.Thr24Ser) c.187A>T (p.Thr63Ser) c.136A>T (p.Thr46Ser) | |
15 | g.31070174T>C | CA7453072 | TRPM1 | c.70A>G (p.Thr24Ala) c.187A>G (p.Thr63Ala) c.136A>G (p.Thr46Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070174T>G | CA391537475 | TRPM1 | c.70A>C (p.Thr24Pro) c.187A>C (p.Thr63Pro) c.136A>C (p.Thr46Pro) | |
15 | g.31070174T= | CA2167784182 | TRPM1 | c.70A= (p.Thr24=) c.187A= (p.Thr63=) c.136A= (p.Thr46=) | |
15 | g.31070175T>A | CA489644937 | TRPM1 | c.69A>T (p.Ala23=) c.186A>T (p.Ala62=) c.135A>T (p.Ala45=) | |
15 | g.31070175T>C | CA489644938 | TRPM1 | c.69A>G (p.Ala23=) c.186A>G (p.Ala62=) c.135A>G (p.Ala45=) | |
15 | g.31070175T>G | CA489644936 | TRPM1 | c.69A>C (p.Ala23=) c.186A>C (p.Ala62=) c.135A>C (p.Ala45=) | |
15 | g.31070176G>A | CA391537480 | TRPM1 | c.68C>T (p.Ala23Val) c.185C>T (p.Ala62Val) c.134C>T (p.Ala45Val) | ClinVar dbSNP |
15 | g.31070176G>C | CA391537482 | TRPM1 | c.68C>G (p.Ala23Gly) c.185C>G (p.Ala62Gly) c.134C>G (p.Ala45Gly) | |
15 | g.31070176G= | CA2167784183 | TRPM1 | c.68C= (p.Ala23=) c.185C= (p.Ala62=) c.134C= (p.Ala45=) | |
15 | g.31070176G>T | CA391537484 | TRPM1 | c.68C>A (p.Ala23Glu) c.185C>A (p.Ala62Glu) c.134C>A (p.Ala45Glu) | |
15 | g.31070177C>A | CA391537493 | TRPM1 | c.67G>T (p.Ala23Ser) c.184G>T (p.Ala62Ser) c.133G>T (p.Ala45Ser) | |
15 | g.31070177C= | CA2167784184 | TRPM1 | c.67G= (p.Ala23=) c.184G= (p.Ala62=) c.133G= (p.Ala45=) | |
15 | g.31070177C>G | CA7453073 | TRPM1 | c.67G>C (p.Ala23Pro) c.184G>C (p.Ala62Pro) c.133G>C (p.Ala45Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070177C>T | CA391537489 | TRPM1 | c.67G>A (p.Ala23Thr) c.184G>A (p.Ala62Thr) c.133G>A (p.Ala45Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070178A>C | CA391537496 | TRPM1 | c.66T>G (p.Ser22Arg) c.183T>G (p.Ser61Arg) c.132T>G (p.Ser44Arg) | |
15 | g.31070178A>G | CA489644939 | TRPM1 | c.66T>C (p.Ser22=) c.183T>C (p.Ser61=) c.132T>C (p.Ser44=) | |
15 | g.31070178A>T | CA391537499 | TRPM1 | c.66T>A (p.Ser22Arg) c.183T>A (p.Ser61Arg) c.132T>A (p.Ser44Arg) | gnomAD v4 COSMIC COSMIC |
15 | g.31070179C>A | CA391537505 | TRPM1 | c.65G>T (p.Ser22Ile) c.182G>T (p.Ser61Ile) c.131G>T (p.Ser44Ile) | |
15 | g.31070179C>G | CA391537507 | TRPM1 | c.65G>C (p.Ser22Thr) c.182G>C (p.Ser61Thr) c.131G>C (p.Ser44Thr) | |
15 | g.31070179C>T | CA391537511 | TRPM1 | c.65G>A (p.Ser22Asn) c.182G>A (p.Ser61Asn) c.131G>A (p.Ser44Asn) | ClinVar |
15 | g.31070180T>A | CA391537515 | TRPM1 | c.64A>T (p.Ser22Cys) c.181A>T (p.Ser61Cys) c.130A>T (p.Ser44Cys) | |
15 | g.31070180T>C | CA391537522 | TRPM1 | c.64A>G (p.Ser22Gly) c.181A>G (p.Ser61Gly) c.130A>G (p.Ser44Gly) | |
15 | g.31070180T>G | CA391537518 | TRPM1 | c.64A>C (p.Ser22Arg) c.181A>C (p.Ser61Arg) c.130A>C (p.Ser44Arg) | |
15 | g.31070181T>A | CA489644940 | TRPM1 | c.63A>T (p.Pro21=) c.180A>T (p.Pro60=) c.129A>T (p.Pro43=) | |
15 | g.31070181T>C | CA489644942 | TRPM1 | c.63A>G (p.Pro21=) c.180A>G (p.Pro60=) c.129A>G (p.Pro43=) | |
15 | g.31070181T>G | CA489644941 | TRPM1 | c.63A>C (p.Pro21=) c.180A>C (p.Pro60=) c.129A>C (p.Pro43=) | |
15 | g.31070182G>A | CA391537525 | TRPM1 | c.62C>T (p.Pro21Leu) c.179C>T (p.Pro60Leu) c.128C>T (p.Pro43Leu) | |
15 | g.31070182G>C | CA391537528 | TRPM1 | c.62C>G (p.Pro21Arg) c.179C>G (p.Pro60Arg) c.128C>G (p.Pro43Arg) | |
15 | g.31070182G>T | CA391537531 | TRPM1 | c.62C>A (p.Pro21Gln) c.179C>A (p.Pro60Gln) c.128C>A (p.Pro43Gln) | |
15 | g.31070183G>A | CA391537533 | TRPM1 | c.61C>T (p.Pro21Ser) c.178C>T (p.Pro60Ser) c.127C>T (p.Pro43Ser) | |
15 | g.31070183G>C | CA391537536 | TRPM1 | c.61C>G (p.Pro21Ala) c.178C>G (p.Pro60Ala) c.127C>G (p.Pro43Ala) | gnomAD v4 |
15 | g.31070183G>T | CA391537538 | TRPM1 | c.61C>A (p.Pro21Thr) c.178C>A (p.Pro60Thr) c.127C>A (p.Pro43Thr) | |
15 | g.31070184C>A | CA489644945 | TRPM1 | c.60G>T (p.Leu20=) c.177G>T (p.Leu59=) c.126G>T (p.Leu42=) | ClinVar dbSNP |
15 | g.31070184C>G | CA489644943 | TRPM1 | c.60G>C (p.Leu20=) c.177G>C (p.Leu59=) c.126G>C (p.Leu42=) | |
15 | g.31070184C>T | CA489644944 | TRPM1 | c.60G>A (p.Leu20=) c.177G>A (p.Leu59=) c.126G>A (p.Leu42=) | ClinVar dbSNP |
15 | g.31070185A= | CA2167784185 | TRPM1 | c.59T= (p.Leu20=) c.176T= (p.Leu59=) c.125T= (p.Leu42=) | |
15 | g.31070185A>C | CA391537544 | TRPM1 | c.59T>G (p.Leu20Arg) c.176T>G (p.Leu59Arg) c.125T>G (p.Leu42Arg) | |
15 | g.31070185A>G | CA391537545 | TRPM1 | c.59T>C (p.Leu20Pro) c.176T>C (p.Leu59Pro) c.125T>C (p.Leu42Pro) | |
15 | g.31070185A>T | CA391537548 | TRPM1 | c.59T>A (p.Leu20Gln) c.176T>A (p.Leu59Gln) c.125T>A (p.Leu42Gln) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070186G>A | CA489644946 | TRPM1 | c.58C>T (p.Leu20=) c.175C>T (p.Leu59=) c.124C>T (p.Leu42=) | |
15 | g.31070186G>C | CA391537551 | TRPM1 | c.58C>G (p.Leu20Val) c.175C>G (p.Leu59Val) c.124C>G (p.Leu42Val) | |
15 | g.31070186G>T | CA391537554 | TRPM1 | c.58C>A (p.Leu20Met) c.175C>A (p.Leu59Met) c.124C>A (p.Leu42Met) | |
15 | g.31070187A>C | CA489644948 | TRPM1 | c.57T>G (p.Pro19=) c.174T>G (p.Pro58=) c.123T>G (p.Pro41=) | |
15 | g.31070187A>G | CA489644947 | TRPM1 | c.57T>C (p.Pro19=) c.174T>C (p.Pro58=) c.123T>C (p.Pro41=) | |
15 | g.31070187A>T | CA489644949 | TRPM1 | c.57T>A (p.Pro19=) c.174T>A (p.Pro58=) c.123T>A (p.Pro41=) | |
15 | g.31070188G>A | CA391537563 | TRPM1 | c.56C>T (p.Pro19Leu) c.173C>T (p.Pro58Leu) c.122C>T (p.Pro41Leu) | |
15 | g.31070188G>C | CA391537561 | TRPM1 | c.56C>G (p.Pro19Arg) c.173C>G (p.Pro58Arg) c.122C>G (p.Pro41Arg) | dbSNP |
15 | g.31070188G>T | CA391537558 | TRPM1 | c.56C>A (p.Pro19His) c.173C>A (p.Pro58His) c.122C>A (p.Pro41His) | COSMIC |
15 | g.31070193del | CA645580065 | TRPM1 | c.56del (p.Pro19LeufsTer?) c.173del (p.Pro58LeufsTer?) c.122del (p.Pro41LeufsTer?) | gnomAD v4 COSMIC COSMIC |
15 | g.31070189G>A | CA267502136 | TRPM1 | c.55C>T (p.Pro19Ser) c.172C>T (p.Pro58Ser) c.121C>T (p.Pro41Ser) | dbSNP |
15 | g.31070189G>C | CA7453074 | TRPM1 | c.55C>G (p.Pro19Ala) c.172C>G (p.Pro58Ala) c.121C>G (p.Pro41Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070189G= | CA2167784186 | TRPM1 | c.55C= (p.Pro19=) c.172C= (p.Pro58=) c.121C= (p.Pro41=) | |
15 | g.31070189G>T | CA267502145 | TRPM1 | c.55C>A (p.Pro19Thr) c.172C>A (p.Pro58Thr) c.121C>A (p.Pro41Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070190G>A | CA489644951 | TRPM1 | c.54C>T (p.Pro18=) c.171C>T (p.Pro57=) c.120C>T (p.Pro40=) | gnomAD v4 |
15 | g.31070190G>C | CA489644952 | TRPM1 | c.54C>G (p.Pro18=) c.171C>G (p.Pro57=) c.120C>G (p.Pro40=) | gnomAD v4 |
15 | g.31070190G>T | CA489644950 | TRPM1 | c.54C>A (p.Pro18=) c.171C>A (p.Pro57=) c.120C>A (p.Pro40=) | |
15 | g.31070191G>A | CA391537577 | TRPM1 | c.53C>T (p.Pro18Leu) c.170C>T (p.Pro57Leu) c.119C>T (p.Pro40Leu) | |
15 | g.31070191G>C | CA391537580 | TRPM1 | c.53C>G (p.Pro18Arg) c.170C>G (p.Pro57Arg) c.119C>G (p.Pro40Arg) | gnomAD v4 |
15 | g.31070191G= | CA2167784187 | TRPM1 | c.53C= (p.Pro18=) c.170C= (p.Pro57=) c.119C= (p.Pro40=) | |
15 | g.31070191G>T | CA391537582 | TRPM1 | c.53C>A (p.Pro18His) c.170C>A (p.Pro57His) c.119C>A (p.Pro40His) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070192G>A | CA391537587 | TRPM1 | c.52C>T (p.Pro18Ser) c.169C>T (p.Pro57Ser) c.118C>T (p.Pro40Ser) | dbSNP gnomAD v4 |
15 | g.31070192G>C | CA391537589 | TRPM1 | c.52C>G (p.Pro18Ala) c.169C>G (p.Pro57Ala) c.118C>G (p.Pro40Ala) | |
15 | g.31070192G= | CA2167784188 | TRPM1 | c.52C= (p.Pro18=) c.169C= (p.Pro57=) c.118C= (p.Pro40=) | |
15 | g.31070192G>T | CA391537592 | TRPM1 | c.52C>A (p.Pro18Thr) c.169C>A (p.Pro57Thr) c.118C>A (p.Pro40Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070193G>A | CA7453075 | TRPM1 | c.51C>T (p.Ile17=) c.168C>T (p.Ile56=) c.117C>T (p.Ile39=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070193G>C | CA391537596 | TRPM1 | c.51C>G (p.Ile17Met) c.168C>G (p.Ile56Met) c.117C>G (p.Ile39Met) | |
15 | g.31070193G= | CA2167784189 | TRPM1 | c.51C= (p.Ile17=) c.168C= (p.Ile56=) c.117C= (p.Ile39=) | |
15 | g.31070193G>T | CA489644953 | TRPM1 | c.51C>A (p.Ile17=) c.168C>A (p.Ile56=) c.117C>A (p.Ile39=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070194A>C | CA391537600 | TRPM1 | c.50T>G (p.Ile17Ser) c.167T>G (p.Ile56Ser) c.116T>G (p.Ile39Ser) | |
15 | g.31070194A>G | CA391537603 | TRPM1 | c.50T>C (p.Ile17Thr) c.167T>C (p.Ile56Thr) c.116T>C (p.Ile39Thr) | |
15 | g.31070194A>T | CA391537606 | TRPM1 | c.50T>A (p.Ile17Asn) c.167T>A (p.Ile56Asn) c.116T>A (p.Ile39Asn) | |
15 | g.31070194dup | CA2627517267 | TRPM1 | c.50dup (p.Leu20SerfsTer10) c.167dup (p.Leu59SerfsTer10) c.116dup (p.Leu42SerfsTer10) | gnomAD v4 |
15 | g.31070196_31070197del | CA2505780669 | TRPM1 | c.49_50del (p.Ile17ProfsTer12) c.166_167del (p.Ile56ProfsTer12) c.115_116del (p.Ile39ProfsTer12) | gnomAD v4 |
15 | g.31070195T>A | CA391537615 | TRPM1 | c.49A>T (p.Ile17Phe) c.166A>T (p.Ile56Phe) c.115A>T (p.Ile39Phe) | |
15 | g.31070195T>C | CA391537610 | TRPM1 | c.49A>G (p.Ile17Val) c.166A>G (p.Ile56Val) c.115A>G (p.Ile39Val) | dbSNP |
15 | g.31070195T>G | CA391537612 | TRPM1 | c.49A>C (p.Ile17Leu) c.166A>C (p.Ile56Leu) c.115A>C (p.Ile39Leu) | |
15 | g.31070195T= | CA2167784190 | TRPM1 | c.49A= (p.Ile17=) c.166A= (p.Ile56=) c.115A= (p.Ile39=) | |
15 | g.31070196A>C | CA391537618 | TRPM1 | c.48T>G (p.His16Gln) c.165T>G (p.His55Gln) c.114T>G (p.His38Gln) | |
15 | g.31070196A>G | CA489644954 | TRPM1 | c.48T>C (p.His16=) c.165T>C (p.His55=) c.114T>C (p.His38=) | |
15 | g.31070196A>T | CA391537621 | TRPM1 | c.48T>A (p.His16Gln) c.165T>A (p.His55Gln) c.114T>A (p.His38Gln) | |
15 | g.31070197T>A | CA391537626 | TRPM1 | c.47A>T (p.His16Leu) c.164A>T (p.His55Leu) c.113A>T (p.His38Leu) | |
15 | g.31070197T>C | CA391537627 | TRPM1 | c.47A>G (p.His16Arg) c.164A>G (p.His55Arg) c.113A>G (p.His38Arg) | dbSNP gnomAD v4 |
15 | g.31070197T>G | CA391537630 | TRPM1 | c.47A>C (p.His16Pro) c.164A>C (p.His55Pro) c.113A>C (p.His38Pro) | gnomAD v4 |
15 | g.31070197T= | CA2167784191 | TRPM1 | c.47A= (p.His16=) c.164A= (p.His55=) c.113A= (p.His38=) | |
15 | g.31070198G>A | CA391537634 | TRPM1 | c.46C>T (p.His16Tyr) c.163C>T (p.His55Tyr) c.112C>T (p.His38Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070198G>C | CA391537637 | TRPM1 | c.46C>G (p.His16Asp) c.163C>G (p.His55Asp) c.112C>G (p.His38Asp) | dbSNP |
15 | g.31070198G= | CA2167784192 | TRPM1 | c.46C= (p.His16=) c.163C= (p.His55=) c.112C= (p.His38=) | |
15 | g.31070198G>T | CA391537640 | TRPM1 | c.46C>A (p.His16Asn) c.163C>A (p.His55Asn) c.112C>A (p.His38Asn) | |
15 | g.31070199C>A | CA391537644 | TRPM1 | c.45G>T (p.Gln15His) c.162G>T (p.Gln54His) c.111G>T (p.Gln37His) | ClinVar dbSNP |
15 | g.31070199C= | CA2167784193 | TRPM1 | c.45G= (p.Gln15=) c.162G= (p.Gln54=) c.111G= (p.Gln37=) | |
15 | g.31070199C>G | CA391537647 | TRPM1 | c.45G>C (p.Gln15His) c.162G>C (p.Gln54His) c.111G>C (p.Gln37His) | |
15 | g.31070199C>T | CA489644955 | TRPM1 | c.45G>A (p.Gln15=) c.162G>A (p.Gln54=) c.111G>A (p.Gln37=) | |
15 | g.31070200T>A | CA391537650 | TRPM1 | c.44A>T (p.Gln15Leu) c.161A>T (p.Gln54Leu) c.110A>T (p.Gln37Leu) | |
15 | g.31070200T>C | CA391537653 | TRPM1 | c.44A>G (p.Gln15Arg) c.161A>G (p.Gln54Arg) c.110A>G (p.Gln37Arg) | |
15 | g.31070200T>G | CA391537657 | TRPM1 | c.44A>C (p.Gln15Pro) c.161A>C (p.Gln54Pro) c.110A>C (p.Gln37Pro) | |
15 | g.31070201G>A | CA7453076 | TRPM1 | c.43C>T (p.Gln15Ter) c.160C>T (p.Gln54Ter) c.109C>T (p.Gln37Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070201G>C | CA391537666 | TRPM1 | c.43C>G (p.Gln15Glu) c.160C>G (p.Gln54Glu) c.109C>G (p.Gln37Glu) | |
15 | g.31070201G= | CA2167784194 | TRPM1 | c.43C= (p.Gln15=) c.160C= (p.Gln54=) c.109C= (p.Gln37=) | |
15 | g.31070201G>T | CA391537662 | TRPM1 | c.43C>A (p.Gln15Lys) c.160C>A (p.Gln54Lys) c.109C>A (p.Gln37Lys) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070202G>A | CA489644956 | TRPM1 | c.42C>T (p.Asn14=) c.159C>T (p.Asn53=) c.108C>T (p.Asn36=) | |
15 | g.31070202G>C | CA391537669 | TRPM1 | c.42C>G (p.Asn14Lys) c.159C>G (p.Asn53Lys) c.108C>G (p.Asn36Lys) | |
15 | g.31070202G= | CA2167784195 | TRPM1 | c.42C= (p.Asn14=) c.159C= (p.Asn53=) c.108C= (p.Asn36=) | |
15 | g.31070202G>T | CA10635766 | TRPM1 | c.42C>A (p.Asn14Lys) c.159C>A (p.Asn53Lys) c.108C>A (p.Asn36Lys) | ClinVar dbSNP |
15 | g.31070203T>A | CA391537676 | TRPM1 | c.41A>T (p.Asn14Ile) c.158A>T (p.Asn53Ile) c.107A>T (p.Asn36Ile) | |
15 | g.31070203T>C | CA391537678 | TRPM1 | c.41A>G (p.Asn14Ser) c.158A>G (p.Asn53Ser) c.107A>G (p.Asn36Ser) | |
15 | g.31070203T>G | CA391537682 | TRPM1 | c.41A>C (p.Asn14Thr) c.158A>C (p.Asn53Thr) c.107A>C (p.Asn36Thr) | |
15 | g.31070204T>A | CA391537686 | TRPM1 | c.40A>T (p.Asn14Tyr) c.157A>T (p.Asn53Tyr) c.106A>T (p.Asn36Tyr) | |
15 | g.31070204T>C | CA391537688 | TRPM1 | c.40A>G (p.Asn14Asp) c.157A>G (p.Asn53Asp) c.106A>G (p.Asn36Asp) | |
15 | g.31070204T>G | CA391537690 | TRPM1 | c.40A>C (p.Asn14His) c.157A>C (p.Asn53His) c.106A>C (p.Asn36His) | |
15 | g.31070205G>A | CA489644958 | TRPM1 | c.39C>T (p.Thr13=) c.156C>T (p.Thr52=) c.105C>T (p.Thr35=) | |
15 | g.31070205G>C | CA489644957 | TRPM1 | c.39C>G (p.Thr13=) c.156C>G (p.Thr52=) c.105C>G (p.Thr35=) | |
15 | g.31070205G= | CA2167784196 | TRPM1 | c.39C= (p.Thr13=) c.156C= (p.Thr52=) c.105C= (p.Thr35=) | |
15 | g.31070205G>T | CA489644959 | TRPM1 | c.39C>A (p.Thr13=) c.156C>A (p.Thr52=) c.105C>A (p.Thr35=) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070206G>A | CA391537694 | TRPM1 | c.38C>T (p.Thr13Ile) c.155C>T (p.Thr52Ile) c.104C>T (p.Thr35Ile) | |
15 | g.31070206G>C | CA391537697 | TRPM1 | c.38C>G (p.Thr13Ser) c.155C>G (p.Thr52Ser) c.104C>G (p.Thr35Ser) | |
15 | g.31070206G>T | CA391537700 | TRPM1 | c.38C>A (p.Thr13Asn) c.155C>A (p.Thr52Asn) c.104C>A (p.Thr35Asn) | |
15 | g.31070206_31070207delinsGT | CA2167784197 | TRPM1 | c.37_38delinsAC (p.Thr13=) c.154_155delinsAC (p.Thr52=) c.103_104delinsAC (p.Thr35=) | |
15 | g.31070207del | CA617553147 | TRPM1 | c.37del (p.Thr13ProfsTer?) c.154del (p.Thr52ProfsTer?) c.103del (p.Thr35ProfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070207T>A | CA391537703 | TRPM1 | c.37A>T (p.Thr13Ser) c.154A>T (p.Thr52Ser) c.103A>T (p.Thr35Ser) | |
15 | g.31070207T>C | CA391537705 | TRPM1 | c.37A>G (p.Thr13Ala) c.154A>G (p.Thr52Ala) c.103A>G (p.Thr35Ala) | |
15 | g.31070207T>G | CA391537709 | TRPM1 | c.37A>C (p.Thr13Pro) c.154A>C (p.Thr52Pro) c.103A>C (p.Thr35Pro) | |
15 | g.31070208G>A | CA489644960 | TRPM1 | c.36C>T (p.Phe12=) c.153C>T (p.Phe51=) c.102C>T (p.Phe34=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070208G>C | CA391537720 | TRPM1 | c.36C>G (p.Phe12Leu) c.153C>G (p.Phe51Leu) c.102C>G (p.Phe34Leu) | |
15 | g.31070208G= | CA2167784198 | TRPM1 | c.36C= (p.Phe12=) c.153C= (p.Phe51=) c.102C= (p.Phe34=) | |
15 | g.31070208G>T | CA391537713 | TRPM1 | c.36C>A (p.Phe12Leu) c.153C>A (p.Phe51Leu) c.102C>A (p.Phe34Leu) | dbSNP |
15 | g.31070209A>C | CA391537725 | TRPM1 | c.35T>G (p.Phe12Cys) c.152T>G (p.Phe51Cys) c.101T>G (p.Phe34Cys) | |
15 | g.31070209A>G | CA391537727 | TRPM1 | c.35T>C (p.Phe12Ser) c.152T>C (p.Phe51Ser) c.101T>C (p.Phe34Ser) | |
15 | g.31070209A>T | CA391537730 | TRPM1 | c.35T>A (p.Phe12Tyr) c.152T>A (p.Phe51Tyr) c.101T>A (p.Phe34Tyr) | |
15 | g.31070210A= | CA2167784199 | TRPM1 | c.34T= (p.Phe12=) c.151T= (p.Phe51=) c.100T= (p.Phe34=) | |
15 | g.31070210A>C | CA391537735 | TRPM1 | c.34T>G (p.Phe12Val) c.151T>G (p.Phe51Val) c.100T>G (p.Phe34Val) | |
15 | g.31070210A>G | CA391537738 | TRPM1 | c.34T>C (p.Phe12Leu) c.151T>C (p.Phe51Leu) c.100T>C (p.Phe34Leu) | gnomAD v4 |
15 | g.31070210A>T | CA391537740 | TRPM1 | c.34T>A (p.Phe12Ile) c.151T>A (p.Phe51Ile) c.100T>A (p.Phe34Ile) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070210_31070214delinsACTGG | CA2167784200 | TRPM1 | c.30_34delinsCCAGT (p.Gly10=) c.147_151delinsCCAGT (p.Gly49=) c.96_100delinsCCAGT (p.Gly32=) | |
15 | g.31070211C>A | CA391537743 | TRPM1 | c.33G>T (p.Gln11His) c.150G>T (p.Gln50His) c.99G>T (p.Gln33His) | dbSNP |
15 | g.31070211C= | CA2167784201 | TRPM1 | c.33G= (p.Gln11=) c.150G= (p.Gln50=) c.99G= (p.Gln33=) | |
15 | g.31070211C>G | CA391537745 | TRPM1 | c.33G>C (p.Gln11His) c.150G>C (p.Gln50His) c.99G>C (p.Gln33His) | |
15 | g.31070211C>T | CA489644961 | TRPM1 | c.33G>A (p.Gln11=) c.150G>A (p.Gln50=) c.99G>A (p.Gln33=) | |
15 | g.31070212_31070215del | CA617553148 | TRPM1 | c.30_33del (p.Gln11SerfsTer?) c.147_150del (p.Gln50SerfsTer?) c.96_99del (p.Gln33SerfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070211_31070212insCAACCAGTAAGCCAGCGTTATTAGGGACAGAAATGCCCCATCTGA | CA7453077 | TRPM1 | c.32_33insTCAGATGGGGCATTTCTGTCCCTAATAACGCTGGCTTACTGGTTG (p.Gln11HisfsTer9) c.149_150insTCAGATGGGGCATTTCTGTCCCTAATAACGCTGGCTTACTGGTTG (p.Gln50HisfsTer9) c.98_99insTCAGATGGGGCATTTCTGTCCCTAATAACGCTGGCTTACTGGTTG (p.Gln33HisfsTer9) | dbSNP ExAC |
15 | g.31070212T>A | CA391537750 | TRPM1 | c.32A>T (p.Gln11Leu) c.149A>T (p.Gln50Leu) c.98A>T (p.Gln33Leu) | |
15 | g.31070212T>C | CA391537753 | TRPM1 | c.32A>G (p.Gln11Arg) c.149A>G (p.Gln50Arg) c.98A>G (p.Gln33Arg) | |
15 | g.31070212T>G | CA391537756 | TRPM1 | c.32A>C (p.Gln11Pro) c.149A>C (p.Gln50Pro) c.98A>C (p.Gln33Pro) | |
15 | g.31070212_31070344delinsCAAC | CA2580089226 | TRPM1 | c.18-118_32delinsGTTG c.135-118_149delinsGTTG c.84-118_98delinsGTTG | ClinVar |
15 | g.31070213G>A | CA118067 | TRPM1 | c.31C>T (p.Gln11Ter) c.148C>T (p.Gln50Ter) c.97C>T (p.Gln33Ter) | ClinVar dbSNP gnomAD v4 |
15 | g.31070213G>C | CA391537764 | TRPM1 | c.31C>G (p.Gln11Glu) c.148C>G (p.Gln50Glu) c.97C>G (p.Gln33Glu) | |
15 | g.31070213G= | CA2167784202 | TRPM1 | c.31C= (p.Gln11=) c.148C= (p.Gln50=) c.97C= (p.Gln33=) | |
15 | g.31070213G>T | CA391537759 | TRPM1 | c.31C>A (p.Gln11Lys) c.148C>A (p.Gln50Lys) c.97C>A (p.Gln33Lys) | |
15 | g.31070214G>A | CA489644963 | TRPM1 | c.30C>T (p.Gly10=) c.147C>T (p.Gly49=) c.96C>T (p.Gly32=) | |
15 | g.31070214G>C | CA489644964 | TRPM1 | c.30C>G (p.Gly10=) c.147C>G (p.Gly49=) c.96C>G (p.Gly32=) | |
15 | g.31070214G>T | CA489644962 | TRPM1 | c.30C>A (p.Gly10=) c.147C>A (p.Gly49=) c.96C>A (p.Gly32=) | ClinVar |
15 | g.31070215C>A | CA391537767 | TRPM1 | c.29G>T (p.Gly10Val) c.146G>T (p.Gly49Val) c.95G>T (p.Gly32Val) | |
15 | g.31070215C>G | CA391537771 | TRPM1 | c.29G>C (p.Gly10Ala) c.146G>C (p.Gly49Ala) c.95G>C (p.Gly32Ala) | |
15 | g.31070215C>T | CA391537773 | TRPM1 | c.29G>A (p.Gly10Asp) c.146G>A (p.Gly49Asp) c.95G>A (p.Gly32Asp) | |
15 | g.31070216C>A | CA391537778 | TRPM1 | c.28G>T (p.Gly10Cys) c.145G>T (p.Gly49Cys) c.94G>T (p.Gly32Cys) | |
15 | g.31070216C= | CA2167784203 | TRPM1 | c.28G= (p.Gly10=) c.145G= (p.Gly49=) c.94G= (p.Gly32=) | |
15 | g.31070216C>G | CA391537779 | TRPM1 | c.28G>C (p.Gly10Arg) c.145G>C (p.Gly49Arg) c.94G>C (p.Gly32Arg) | |
15 | g.31070216C>T | CA391537782 | TRPM1 | c.28G>A (p.Gly10Ser) c.145G>A (p.Gly49Ser) c.94G>A (p.Gly32Ser) | dbSNP |
15 | g.31070217A>C | CA391537788 | TRPM1 | c.27T>G (p.Cys9Trp) c.144T>G (p.Cys48Trp) c.93T>G (p.Cys31Trp) | |
15 | g.31070217A>G | CA489644617 | TRPM1 | c.27T>C (p.Cys9=) c.144T>C (p.Cys48=) c.93T>C (p.Cys31=) | |
15 | g.31070217A>T | CA391537786 | TRPM1 | c.27T>A (p.Cys9Ter) c.144T>A (p.Cys48Ter) c.93T>A (p.Cys31Ter) | |
15 | g.31070218C>A | CA391537793 | TRPM1 | c.26G>T (p.Cys9Phe) c.143G>T (p.Cys48Phe) c.92G>T (p.Cys31Phe) | |
15 | g.31070218C= | CA2167784204 | TRPM1 | c.26G= (p.Cys9=) c.143G= (p.Cys48=) c.92G= (p.Cys31=) | |
15 | g.31070218C>G | CA391537796 | TRPM1 | c.26G>C (p.Cys9Ser) c.143G>C (p.Cys48Ser) c.92G>C (p.Cys31Ser) | |
15 | g.31070218C>T | CA391537799 | TRPM1 | c.26G>A (p.Cys9Tyr) c.143G>A (p.Cys48Tyr) c.92G>A (p.Cys31Tyr) | dbSNP gnomAD v4 |
15 | g.31070219A>C | CA391537803 | TRPM1 | c.25T>G (p.Cys9Gly) c.142T>G (p.Cys48Gly) c.91T>G (p.Cys31Gly) | |
15 | g.31070219A>G | CA391537805 | TRPM1 | c.25T>C (p.Cys9Arg) c.142T>C (p.Cys48Arg) c.91T>C (p.Cys31Arg) | |
15 | g.31070219A>T | CA391537807 | TRPM1 | c.25T>A (p.Cys9Ser) c.142T>A (p.Cys48Ser) c.91T>A (p.Cys31Ser) | gnomAD v4 |
15 | g.31070220G>A | CA7453078 | TRPM1 | c.24C>T (p.Cys8=) c.141C>T (p.Cys47=) c.90C>T (p.Cys30=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070220G>C | CA391537818 | TRPM1 | c.24C>G (p.Cys8Trp) c.141C>G (p.Cys47Trp) c.90C>G (p.Cys30Trp) | |
15 | g.31070220G= | CA2167784205 | TRPM1 | c.24C= (p.Cys8=) c.141C= (p.Cys47=) c.90C= (p.Cys30=) | |
15 | g.31070220G>T | CA391537815 | TRPM1 | c.24C>A (p.Cys8Ter) c.141C>A (p.Cys47Ter) c.90C>A (p.Cys30Ter) | |
15 | g.31070221C>A | CA391537822 | TRPM1 | c.23G>T (p.Cys8Phe) c.140G>T (p.Cys47Phe) c.89G>T (p.Cys30Phe) | COSMIC |
15 | g.31070221C>G | CA391537825 | TRPM1 | c.23G>C (p.Cys8Ser) c.140G>C (p.Cys47Ser) c.89G>C (p.Cys30Ser) | |
15 | g.31070221C>T | CA391537827 | TRPM1 | c.23G>A (p.Cys8Tyr) c.140G>A (p.Cys47Tyr) c.89G>A (p.Cys30Tyr) | |
15 | g.31070221dup | CA2167784206 | TRPM1 | c.23dup (p.Cys8TrpfsTer22) c.140dup (p.Cys47TrpfsTer22) c.89dup (p.Cys30TrpfsTer22) | dbSNP |
15 | g.31070222A= | CA2167784207 | TRPM1 | c.22T= (p.Cys8=) c.139T= (p.Cys47=) c.88T= (p.Cys30=) | |
15 | g.31070222A>C | CA391537833 | TRPM1 | c.22T>G (p.Cys8Gly) c.139T>G (p.Cys47Gly) c.88T>G (p.Cys30Gly) | |
15 | g.31070222A>G | CA7453079 | TRPM1 | c.22T>C (p.Cys8Arg) c.139T>C (p.Cys47Arg) c.88T>C (p.Cys30Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070222A>T | CA391537838 | TRPM1 | c.22T>A (p.Cys8Ser) c.139T>A (p.Cys47Ser) c.88T>A (p.Cys30Ser) | |
15 | g.31070223A= | CA2167784208 | TRPM1 | c.21T= (p.Cys7=) c.138T= (p.Cys46=) c.87T= (p.Cys29=) | |
15 | g.31070223A>C | CA391537843 | TRPM1 | c.21T>G (p.Cys7Trp) c.138T>G (p.Cys46Trp) c.87T>G (p.Cys29Trp) | |
15 | g.31070223A>G | CA489644625 | TRPM1 | c.21T>C (p.Cys7=) c.138T>C (p.Cys46=) c.87T>C (p.Cys29=) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070223A>T | CA391537845 | TRPM1 | c.21T>A (p.Cys7Ter) c.138T>A (p.Cys46Ter) c.87T>A (p.Cys29Ter) | |
15 | g.31070224C>A | CA391537849 | TRPM1 | c.20G>T (p.Cys7Phe) c.137G>T (p.Cys46Phe) c.86G>T (p.Cys29Phe) | |
15 | g.31070224C>G | CA391537852 | TRPM1 | c.20G>C (p.Cys7Ser) c.137G>C (p.Cys46Ser) c.86G>C (p.Cys29Ser) | |
15 | g.31070224C>T | CA391537853 | TRPM1 | c.20G>A (p.Cys7Tyr) c.137G>A (p.Cys46Tyr) c.86G>A (p.Cys29Tyr) | gnomAD v4 |
15 | g.31070225A= | CA2167784209 | TRPM1 | c.19T= (p.Cys7=) c.136T= (p.Cys46=) c.85T= (p.Cys29=) | |
15 | g.31070225A>C | CA267502167 | TRPM1 | c.19T>G (p.Cys7Gly) c.136T>G (p.Cys46Gly) c.85T>G (p.Cys29Gly) | dbSNP |
15 | g.31070225A>G | CA391537860 | TRPM1 | c.19T>C (p.Cys7Arg) c.136T>C (p.Cys46Arg) c.85T>C (p.Cys29Arg) | |
15 | g.31070225A>T | CA391537858 | TRPM1 | c.19T>A (p.Cys7Ser) c.136T>A (p.Cys46Ser) c.85T>A (p.Cys29Ser) | |
15 | g.31070226C>A | CA391537863 | TRPM1 | c.18G>T (p.Arg6Ser) c.135G>T (p.Arg45Ser) c.84G>T (p.Arg28Ser) | |
15 | g.31070226C>G | CA391537866 | TRPM1 | c.18G>C (p.Arg6Ser) c.135G>C (p.Arg45Ser) c.84G>C (p.Arg28Ser) | |
15 | g.31070226C>T | CA489644631 | TRPM1 | c.18G>A (p.Arg6=) c.135G>A (p.Arg45=) c.84G>A (p.Arg28=) | |
15 | g.31070227C>A | CA391537869 | TRPM1 | c.18-1G>T (n.18-1G>T) c.135-1G>T (n.135-1G>T) c.84-1G>T (n.84-1G>T) | |
15 | g.31070227C>G | CA391537875 | TRPM1 | c.18-1G>C (n.18-1G>C) c.135-1G>C (n.135-1G>C) c.84-1G>C (n.84-1G>C) | |
15 | g.31070227C>T | CA391537871 | TRPM1 | c.18-1G>A (n.18-1G>A) c.135-1G>A (n.135-1G>A) c.84-1G>A (n.84-1G>A) | |
15 | g.31070228T>A | CA391537879 | TRPM1 | c.18-2A>T (n.18-2A>T) c.135-2A>T (n.135-2A>T) c.84-2A>T (n.84-2A>T) | |
15 | g.31070228T>C | CA391537883 | TRPM1 | c.18-2A>G (n.18-2A>G) c.135-2A>G (n.135-2A>G) c.84-2A>G (n.84-2A>G) | |
15 | g.31070228T>G | CA391537881 | TRPM1 | c.18-2A>C (n.18-2A>C) c.135-2A>C (n.135-2A>C) c.84-2A>C (n.84-2A>C) | gnomAD v4 |
15 | g.31070229G>A | CA711978858 | TRPM1 | c.18-3C>T (n.18-3C>T) c.135-3C>T (n.135-3C>T) c.84-3C>T (n.84-3C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070229G>C | CA7453080 | TRPM1 | c.18-3C>G (n.18-3C>G) c.135-3C>G (n.135-3C>G) c.84-3C>G (n.84-3C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070229G= | CA2167784210 | TRPM1 | c.18-3C= (n.18-3C=) c.135-3C= (n.135-3C=) c.84-3C= (n.84-3C=) | |
15 | g.31070230A= | CA2167784211 | TRPM1 | c.18-4T= (n.18-4T=) c.135-4T= (n.135-4T=) c.84-4T= (n.84-4T=) | |
15 | g.31070230A>C | CA968313794 | TRPM1 | c.18-4T>G (n.18-4T>G) c.135-4T>G (n.135-4T>G) c.84-4T>G (n.84-4T>G) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070231A>G | CA2575744335 | TRPM1 | c.18-5T>C (n.18-5T>C) c.135-5T>C (n.135-5T>C) c.84-5T>C (n.84-5T>C) | |
15 | g.31070234C= | CA2167784212 | TRPM1 | c.18-8G= (n.18-8G=) c.135-8G= (n.135-8G=) c.84-8G= (n.84-8G=) | |
15 | g.31070234C>G | CA2167784213 | TRPM1 | c.18-8G>C (n.18-8G>C) c.135-8G>C (n.135-8G>C) c.84-8G>C (n.84-8G>C) | dbSNP |
15 | g.31070234C>T | CA7453081 | TRPM1 | c.18-8G>A (n.18-8G>A) c.135-8G>A (n.135-8G>A) c.84-8G>A (n.84-8G>A) | dbSNP ExAC gnomAD v2 |
15 | g.31070235A= | CA2167784214 | TRPM1 | c.18-9T= (n.18-9T=) c.135-9T= (n.135-9T=) c.84-9T= (n.84-9T=) | |
15 | g.31070235A>G | CA2167784215 | TRPM1 | c.18-9T>C (n.18-9T>C) c.135-9T>C (n.135-9T>C) c.84-9T>C (n.84-9T>C) | dbSNP |
15 | g.31070238G>C | CA2627517268 | TRPM1 | c.18-12C>G (n.18-12C>G) c.135-12C>G (n.135-12C>G) c.84-12C>G (n.84-12C>G) | gnomAD v4 |
15 | g.31070239G>A | CA711978864 | TRPM1 | c.18-13C>T (n.18-13C>T) c.135-13C>T (n.135-13C>T) c.84-13C>T (n.84-13C>T) | dbSNP gnomAD v4 |
15 | g.31070239G= | CA2167784216 | TRPM1 | c.18-13C= (n.18-13C=) c.135-13C= (n.135-13C=) c.84-13C= (n.84-13C=) | |
15 | g.31070240C>A | CA7453082 | TRPM1 | c.18-14G>T (n.18-14G>T) c.135-14G>T (n.135-14G>T) c.84-14G>T (n.84-14G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070240C= | CA2167784217 | TRPM1 | c.18-14G= (n.18-14G=) c.135-14G= (n.135-14G=) c.84-14G= (n.84-14G=) | |
15 | g.31070241A= | CA2167784218 | TRPM1 | c.18-15T= (n.18-15T=) c.135-15T= (n.135-15T=) c.84-15T= (n.84-15T=) | |
15 | g.31070241_31070242insCCC | CA7453086 | TRPM1 | c.18-16_18-15insGGG (n.18-16_18-15insGGG) c.135-16_135-15insGGG (n.135-16_135-15insGGG) c.84-16_84-15insGGG (n.84-16_84-15insGGG) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGT | CA617553149 | TRPM1 | c.18-16_18-15insACGAACATGGG (n.18-16_18-15insACGAACATGGG) c.135-16_135-15insACGAACATGGG (n.135-16_135-15insACGAACATGGG) c.84-16_84-15insACGAACATGGG (n.84-16_84-15insACGAACATGGG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAAT | CA2627517269 | TRPM1 | c.18-16_18-15insATTACGAACATGGG (n.18-16_18-15insATTACGAACATGGG) c.135-16_135-15insATTACGAACATGGG (n.135-16_135-15insATTACGAACATGGG) c.84-16_84-15insATTACGAACATGGG (n.84-16_84-15insATTACGAACATGGG) | gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAG | CA2627517271 | TRPM1 | c.18-16_18-15insCTATTACGAACATGGG (n.18-16_18-15insCTATTACGAACATGGG) c.135-16_135-15insCTATTACGAACATGGG (n.135-16_135-15insCTATTACGAACATGGG) c.84-16_84-15insCTATTACGAACATGGG (n.84-16_84-15insCTATTACGAACATGGG) | gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGAT | CA2627517270 | TRPM1 | c.18-16_18-15insATCTATTACGAACATGGG (n.18-16_18-15insATCTATTACGAACATGGG) c.135-16_135-15insATCTATTACGAACATGGG (n.135-16_135-15insATCTATTACGAACATGGG) c.84-16_84-15insATCTATTACGAACATGGG (n.84-16_84-15insATCTATTACGAACATGGG) | gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATAT | CA2741417398 | TRPM1 | c.18-16_18-15insATATCTATTACGAACATGGG (n.18-16_18-15insATATCTATTACGAACATGGG) c.135-16_135-15insATATCTATTACGAACATGGG (n.135-16_135-15insATATCTATTACGAACATGGG) c.84-16_84-15insATATCTATTACGAACATGGG (n.84-16_84-15insATATCTATTACGAACATGGG) | |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCT | CA2627517273 | TRPM1 | c.18-16_18-15insAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insAGAACAATATCTATTACGAACATGGG) | gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTAT | CA2627517272 | TRPM1 | c.18-16_18-15insATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insATAGAACAATATCTATTACGAACATGGG) | gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTG | CA7453083 | TRPM1 | c.18-16_18-15insCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGAT | CA7453084 | TRPM1 | c.18-16_18-15insATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCT | CA617553154 | TRPM1 | c.18-16_18-15insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | gnomAD v2 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGG | CA2580089227 | TRPM1 | c.18-16_18-15insCCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insCCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insCCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insCCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insCCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insCCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | ClinVar |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGT | CA7453088 | TRPM1 | c.18-16_18-15insACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | dbSNP ExAC gnomAD v3 gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGT | CA7453085 | TRPM1 | c.18-16_18-15insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | ExAC gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGTAGT | CA7453087 | TRPM1 | c.18-16_18-15insACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | dbSNP ExAC gnomAD v3 gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGTAGTACTGGCCTC | CA617553150 | TRPM1 | c.18-16_18-15insGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGTAGTACTGGCCTCATT | CA617553151 | TRPM1 | c.18-16_18-15insAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGTAGTACTGGCCTCATTAAATG | CA968313807 | TRPM1 | c.18-16_18-15insCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGTAGTACTGGCCTCATTAAATGAGTTGGG | CA968313802 | TRPM1 | c.18-16_18-15insCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | gnomAD v3 gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGTAGTACTGGCCTCATTAAATGAGTTGGGAAATGTTCCCTTCTCTGCT | CA617553152 | TRPM1 | c.18-16_18-15insAGCAGAGAAGGGAACATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insAGCAGAGAAGGGAACATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insAGCAGAGAAGGGAACATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insAGCAGAGAAGGGAACATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insAGCAGAGAAGGGAACATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insAGCAGAGAAGGGAACATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGTAGTACTGGCCTCATTAAATGAGTTGGGAAATGTTCCCTTCTCTGCTATTTTCTTG | CA617553153 | TRPM1 | c.18-16_18-15insCAAGAAAATAGCAGAGAAGGGAACATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.18-16_18-15insCAAGAAAATAGCAGAGAAGGGAACATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.135-16_135-15insCAAGAAAATAGCAGAGAAGGGAACATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.135-16_135-15insCAAGAAAATAGCAGAGAAGGGAACATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) c.84-16_84-15insCAAGAAAATAGCAGAGAAGGGAACATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG (n.84-16_84-15insCAAGAAAATAGCAGAGAAGGGAACATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG) | dbSNP gnomAD v2 |
15 | g.31070242A= | CA2167784219 | TRPM1 | c.18-16T= (n.18-16T=) c.135-16T= (n.135-16T=) c.84-16T= (n.84-16T=) | |
15 | g.31070242A>C | CA2575744336 | TRPM1 | c.18-16T>G (n.18-16T>G) c.135-16T>G (n.135-16T>G) c.84-16T>G (n.84-16T>G) | |
15 | g.31070242A>G | CA2580089228 | TRPM1 | c.18-16T>C (n.18-16T>C) c.135-16T>C (n.135-16T>C) c.84-16T>C (n.84-16T>C) | ClinVar |
15 | g.31070242A>T | CA2573150618 | TRPM1 | c.18-16T>A (n.18-16T>A) c.135-16T>A (n.135-16T>A) c.84-16T>A (n.84-16T>A) | ClinVar dbSNP gnomAD v4 |
15 | g.31070242_31070243insTGTTCGTAAT | CA7453089 | TRPM1 | c.18-17_18-16insATTACGAACA (n.18-17_18-16insATTACGAACA) c.135-17_135-16insATTACGAACA (n.135-17_135-16insATTACGAACA) c.84-17_84-16insATTACGAACA (n.84-17_84-16insATTACGAACA) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070242_31070243insTGTTCGTAATAGATATTGTTCTAT | CA617553155 | TRPM1 | c.18-17_18-16insATAGAACAATATCTATTACGAACA (n.18-17_18-16insATAGAACAATATCTATTACGAACA) c.135-17_135-16insATAGAACAATATCTATTACGAACA (n.135-17_135-16insATAGAACAATATCTATTACGAACA) c.84-17_84-16insATAGAACAATATCTATTACGAACA (n.84-17_84-16insATAGAACAATATCTATTACGAACA) | dbSNP gnomAD v2 gnomAD v4 |
15 | g.31070242_31070243insTGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCT | CA617553156 | TRPM1 | c.18-17_18-16insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACA (n.18-17_18-16insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACA) c.135-17_135-16insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACA (n.135-17_135-16insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACA) c.84-17_84-16insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACA (n.84-17_84-16insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACA) | gnomAD v2 gnomAD v4 |
15 | g.31070242_31070243insTGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGT | CA617553157 | TRPM1 | c.18-17_18-16insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACA (n.18-17_18-16insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACA) c.135-17_135-16insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACA (n.135-17_135-16insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACA) c.84-17_84-16insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACA (n.84-17_84-16insACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070243A= | CA2167784220 | TRPM1 | c.18-17T= (n.18-17T=) c.135-17T= (n.135-17T=) c.84-17T= (n.84-17T=) | |
15 | g.31070243_31070244insTAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGTAGTACTG | CA617553160 | TRPM1 | c.18-18_18-17insCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA (n.18-18_18-17insCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA) c.135-18_135-17insCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA (n.135-18_135-17insCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA) c.84-18_84-17insCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA (n.84-18_84-17insCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA) | gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070243_31070244insTAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGTAGTACTGGCCTCATTAAAT | CA617553158 | TRPM1 | c.18-18_18-17insATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA (n.18-18_18-17insATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA) c.135-18_135-17insATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA (n.135-18_135-17insATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA) c.84-18_84-17insATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA (n.84-18_84-17insATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070243_31070244insTAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGTAGTACTGGCCTCATTAAATGAGTTGGGAAAT | CA617553159 | TRPM1 | c.18-18_18-17insATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA (n.18-18_18-17insATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA) c.135-18_135-17insATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA (n.135-18_135-17insATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA) c.84-18_84-17insATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA (n.84-18_84-17insATTTCCCAACTCATTTAATGAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070244del | CA2627517274 | TRPM1 | c.18-18del (n.18-18del) c.135-18del (n.135-18del) c.84-18del (n.84-18del) | gnomAD v4 |
15 | g.31070244G>A | CA711978941 | TRPM1 | c.18-18C>T (n.18-18C>T) c.135-18C>T (n.135-18C>T) c.84-18C>T (n.84-18C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070244G>C | CA2580089230 | TRPM1 | c.18-18C>G (n.18-18C>G) c.135-18C>G (n.135-18C>G) c.84-18C>G (n.84-18C>G) | ClinVar |
15 | g.31070244G= | CA2167784221 | TRPM1 | c.18-18C= (n.18-18C=) c.135-18C= (n.135-18C=) c.84-18C= (n.84-18C=) | |
15 | g.31070244_31070245insATATTGTT | CA7453090 | TRPM1 | c.18-19_18-18insAACAATAT (n.18-19_18-18insAACAATAT) c.135-19_135-18insAACAATAT (n.135-19_135-18insAACAATAT) c.84-19_84-18insAACAATAT (n.84-19_84-18insAACAATAT) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070244_31070245insATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTAT | CA7453091 | TRPM1 | c.18-19_18-18insATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATAT (n.18-19_18-18insATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATAT) c.135-19_135-18insATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATAT (n.135-19_135-18insATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATAT) c.84-19_84-18insATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATAT (n.84-19_84-18insATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATAT) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070244_31070245insATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCTAGTTTGGTATCTGGGTAGTACTGGCCT | CA617553161 | TRPM1 | c.18-19_18-18insAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATAT (n.18-19_18-18insAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATAT) c.135-19_135-18insAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATAT (n.135-19_135-18insAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATAT) c.84-19_84-18insAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATAT (n.84-19_84-18insAGGCCAGTACTACCCAGATACCAAACTAGACAAAGATATCACAAGATAGAAAACTATAGAACAATAT) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070245C>A | CA267502221 | TRPM1 | c.18-19G>T (n.18-19G>T) c.135-19G>T (n.135-19G>T) c.84-19G>T (n.84-19G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.31070245C= | CA2167784222 | TRPM1 | c.18-19G= (n.18-19G=) c.135-19G= (n.135-19G=) c.84-19G= (n.84-19G=) | |
15 | g.31070245C>T | CA2627517275 | TRPM1 | c.18-19G>A (n.18-19G>A) c.135-19G>A (n.135-19G>A) c.84-19G>A (n.84-19G>A) | gnomAD v4 |
15 | g.31070245_31070246insTAT | CA7453092 | TRPM1 | c.18-20_18-19insATA (n.18-20_18-19insATA) c.135-20_135-19insATA (n.135-20_135-19insATA) c.84-20_84-19insATA (n.84-20_84-19insATA) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070245_31070246insCTCATTAAATG | CA617553162 | TRPM1 | c.18-20_18-19insCATTTAATGAG (n.18-20_18-19insCATTTAATGAG) c.135-20_135-19insCATTTAATGAG (n.135-20_135-19insCATTTAATGAG) c.84-20_84-19insCATTTAATGAG (n.84-20_84-19insCATTTAATGAG) | gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.31070246A= | CA2167784223 | TRPM1 | c.18-20T= (n.18-20T=) c.135-20T= (n.135-20T=) c.84-20T= (n.84-20T=) | |
15 | g.31070246A>G | CA2573150619 | TRPM1 | c.18-20T>C (n.18-20T>C) c.135-20T>C (n.135-20T>C) c.84-20T>C (n.84-20T>C) | ClinVar dbSNP |
15 | g.31070246A>T | CA7453093 | TRPM1 | c.18-20T>A (n.18-20T>A) c.135-20T>A (n.135-20T>A) c.84-20T>A (n.84-20T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |