Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.73641644_73641646delCA568118756SLC17A5c.525+47_525+49del (n.525+47_525+49del)
n.291+47_291+49del
c.474+47_474+49del (n.474+47_474+49del)
c.327+47_327+49del (n.327+47_327+49del)
c.294+47_294+49del (n.294+47_294+49del)
c.546+47_546+49del (n.546+47_546+49del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73641645A>CCA2679404884SLC17A5c.525+46T>G (n.525+46T>G)
n.291+46T>G
c.474+46T>G (n.474+46T>G)
c.327+46T>G (n.327+46T>G)
c.294+46T>G (n.294+46T>G)
c.546+46T>G (n.546+46T>G)
 gnomAD v4
6g.73641645A>GCA2679404883SLC17A5c.525+46T>C (n.525+46T>C)
n.291+46T>C
c.474+46T>C (n.474+46T>C)
c.327+46T>C (n.327+46T>C)
c.294+46T>C (n.294+46T>C)
c.546+46T>C (n.546+46T>C)
 gnomAD v4
6g.73641649G>ACA3890516SLC17A5c.525+42C>T (n.525+42C>T)
n.291+42C>T
c.474+42C>T (n.474+42C>T)
c.327+42C>T (n.327+42C>T)
c.294+42C>T (n.294+42C>T)
c.546+42C>T (n.546+42C>T)
 dbSNP ExAC gnomAD v2
6g.73641649G=CA1638222850SLC17A5c.525+42C= (n.525+42C=)
n.291+42C=
c.474+42C= (n.474+42C=)
c.327+42C= (n.327+42C=)
c.294+42C= (n.294+42C=)
c.546+42C= (n.546+42C=)
6g.73641649G>TCA2578669705SLC17A5c.525+42C>A (n.525+42C>A)
n.291+42C>A
c.474+42C>A (n.474+42C>A)
c.327+42C>A (n.327+42C>A)
c.294+42C>A (n.294+42C>A)
c.546+42C>A (n.546+42C>A)
 gnomAD v4
6g.73641650A>GCA2679404885SLC17A5c.525+41T>C (n.525+41T>C)
n.291+41T>C
c.474+41T>C (n.474+41T>C)
c.327+41T>C (n.327+41T>C)
c.294+41T>C (n.294+41T>C)
c.546+41T>C (n.546+41T>C)
 gnomAD v4
6g.73641654_73641655delCA2578669706SLC17A5c.525+40_525+41del (n.525+40_525+41del)
n.291+40_291+41del
c.474+40_474+41del (n.474+40_474+41del)
c.327+40_327+41del (n.327+40_327+41del)
c.294+40_294+41del (n.294+40_294+41del)
c.546+40_546+41del (n.546+40_546+41del)
 gnomAD v4
6g.73641651C>ACA2679404886SLC17A5c.525+40G>T (n.525+40G>T)
n.291+40G>T
c.474+40G>T (n.474+40G>T)
c.327+40G>T (n.327+40G>T)
c.294+40G>T (n.294+40G>T)
c.546+40G>T (n.546+40G>T)
 gnomAD v4
6g.73641651C=CA1638222854SLC17A5c.525+40G= (n.525+40G=)
n.291+40G=
c.474+40G= (n.474+40G=)
c.327+40G= (n.327+40G=)
c.294+40G= (n.294+40G=)
c.546+40G= (n.546+40G=)
6g.73641651C>TCA3890517SLC17A5c.525+40G>A (n.525+40G>A)
n.291+40G>A
c.474+40G>A (n.474+40G>A)
c.327+40G>A (n.327+40G>A)
c.294+40G>A (n.294+40G>A)
c.546+40G>A (n.546+40G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73641654A=CA1638222857SLC17A5c.525+37T= (n.525+37T=)
n.291+37T=
c.474+37T= (n.474+37T=)
c.327+37T= (n.327+37T=)
c.294+37T= (n.294+37T=)
c.546+37T= (n.546+37T=)
6g.73641654A>GCA1090533824SLC17A5c.525+37T>C (n.525+37T>C)
n.291+37T>C
c.474+37T>C (n.474+37T>C)
c.327+37T>C (n.327+37T>C)
c.294+37T>C (n.294+37T>C)
c.546+37T>C (n.546+37T>C)
 dbSNP gnomAD v3 gnomAD v4
6g.73641655C>ACA2581591940SLC17A5c.525+36G>T (n.525+36G>T)
n.291+36G>T
c.474+36G>T (n.474+36G>T)
c.327+36G>T (n.327+36G>T)
c.294+36G>T (n.294+36G>T)
c.546+36G>T (n.546+36G>T)
 gnomAD v4
6g.73641655C=CA1638222859SLC17A5c.525+36G= (n.525+36G=)
n.291+36G=
c.474+36G= (n.474+36G=)
c.327+36G= (n.327+36G=)
c.294+36G= (n.294+36G=)
c.546+36G= (n.546+36G=)
6g.73641655C>GCA3890518SLC17A5c.525+36G>C (n.525+36G>C)
n.291+36G>C
c.474+36G>C (n.474+36G>C)
c.327+36G>C (n.327+36G>C)
c.294+36G>C (n.294+36G>C)
c.546+36G>C (n.546+36G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73641655C>TCA3890519SLC17A5c.525+36G>A (n.525+36G>A)
n.291+36G>A
c.474+36G>A (n.474+36G>A)
c.327+36G>A (n.327+36G>A)
c.294+36G>A (n.294+36G>A)
c.546+36G>A (n.546+36G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73641655_73641656delinsCGCA1638222862SLC17A5c.525+35_525+36delinsCG (n.525+35_525+36delinsCG)
n.291+35_291+36delinsCG
c.474+35_474+36delinsCG (n.474+35_474+36delinsCG)
c.327+35_327+36delinsCG (n.327+35_327+36delinsCG)
c.294+35_294+36delinsCG (n.294+35_294+36delinsCG)
c.546+35_546+36delinsCG (n.546+35_546+36delinsCG)
6g.73641656G>ACA568118757SLC17A5c.525+35C>T (n.525+35C>T)
n.291+35C>T
c.474+35C>T (n.474+35C>T)
c.327+35C>T (n.327+35C>T)
c.294+35C>T (n.294+35C>T)
c.546+35C>T (n.546+35C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73641656G=CA1638222867SLC17A5c.525+35C= (n.525+35C=)
n.291+35C=
c.474+35C= (n.474+35C=)
c.327+35C= (n.327+35C=)
c.294+35C= (n.294+35C=)
c.546+35C= (n.546+35C=)
6g.73641656G>TCA2578669710SLC17A5c.525+35C>A (n.525+35C>A)
n.291+35C>A
c.474+35C>A (n.474+35C>A)
c.327+35C>A (n.327+35C>A)
c.294+35C>A (n.294+35C>A)
c.546+35C>A (n.546+35C>A)
 gnomAD v4
6g.73641657delCA1638222866SLC17A5c.525+35del (n.525+35del)
n.291+35del
c.474+35del (n.474+35del)
c.327+35del (n.327+35del)
c.294+35del (n.294+35del)
c.546+35del (n.546+35del)
 dbSNP gnomAD v4
6g.73641657G>ACA2679404887SLC17A5c.525+34C>T (n.525+34C>T)
n.291+34C>T
c.474+34C>T (n.474+34C>T)
c.327+34C>T (n.327+34C>T)
c.294+34C>T (n.294+34C>T)
c.546+34C>T (n.546+34C>T)
 gnomAD v4
6g.73641657G>TCA2679404888SLC17A5c.525+34C>A (n.525+34C>A)
n.291+34C>A
c.474+34C>A (n.474+34C>A)
c.327+34C>A (n.327+34C>A)
c.294+34C>A (n.294+34C>A)
c.546+34C>A (n.546+34C>A)
 gnomAD v4
6g.73641658T>CCA2679404889SLC17A5c.525+33A>G (n.525+33A>G)
n.291+33A>G
c.474+33A>G (n.474+33A>G)
c.327+33A>G (n.327+33A>G)
c.294+33A>G (n.294+33A>G)
c.546+33A>G (n.546+33A>G)
 gnomAD v4
6g.73641658T>GCA3890520SLC17A5c.525+33A>C (n.525+33A>C)
n.291+33A>C
c.474+33A>C (n.474+33A>C)
c.327+33A>C (n.327+33A>C)
c.294+33A>C (n.294+33A>C)
c.546+33A>C (n.546+33A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641658T=CA1638222869SLC17A5c.525+33A= (n.525+33A=)
n.291+33A=
c.474+33A= (n.474+33A=)
c.327+33A= (n.327+33A=)
c.294+33A= (n.294+33A=)
c.546+33A= (n.546+33A=)
6g.73641659A=CA1638222873SLC17A5c.525+32T= (n.525+32T=)
n.291+32T=
c.474+32T= (n.474+32T=)
c.327+32T= (n.327+32T=)
c.294+32T= (n.294+32T=)
c.546+32T= (n.546+32T=)
6g.73641659A>GCA568118758SLC17A5c.525+32T>C (n.525+32T>C)
n.291+32T>C
c.474+32T>C (n.474+32T>C)
c.327+32T>C (n.327+32T>C)
c.294+32T>C (n.294+32T>C)
c.546+32T>C (n.546+32T>C)
 dbSNP gnomAD v2 gnomAD v4
6g.73641661G>ACA568118759SLC17A5c.525+30C>T (n.525+30C>T)
n.291+30C>T
c.474+30C>T (n.474+30C>T)
c.327+30C>T (n.327+30C>T)
c.294+30C>T (n.294+30C>T)
c.546+30C>T (n.546+30C>T)
 dbSNP gnomAD v2 gnomAD v4
6g.73641661G=CA1638222875SLC17A5c.525+30C= (n.525+30C=)
n.291+30C=
c.474+30C= (n.474+30C=)
c.327+30C= (n.327+30C=)
c.294+30C= (n.294+30C=)
c.546+30C= (n.546+30C=)
6g.73641661G>TCA2679404890SLC17A5c.525+30C>A (n.525+30C>A)
n.291+30C>A
c.474+30C>A (n.474+30C>A)
c.327+30C>A (n.327+30C>A)
c.294+30C>A (n.294+30C>A)
c.546+30C>A (n.546+30C>A)
 gnomAD v4
6g.73641662A>GCA2679404891SLC17A5c.525+29T>C (n.525+29T>C)
n.291+29T>C
c.474+29T>C (n.474+29T>C)
c.327+29T>C (n.327+29T>C)
c.294+29T>C (n.294+29T>C)
c.546+29T>C (n.546+29T>C)
 gnomAD v4
6g.73641663A=CA1638222878SLC17A5c.525+28T= (n.525+28T=)
n.291+28T=
c.474+28T= (n.474+28T=)
c.327+28T= (n.327+28T=)
c.294+28T= (n.294+28T=)
c.546+28T= (n.546+28T=)
6g.73641663A>GCA568118760SLC17A5c.525+28T>C (n.525+28T>C)
n.291+28T>C
c.474+28T>C (n.474+28T>C)
c.327+28T>C (n.327+28T>C)
c.294+28T>C (n.294+28T>C)
c.546+28T>C (n.546+28T>C)
 dbSNP gnomAD v2 gnomAD v4
6g.73641664G>CCA1638222882SLC17A5c.525+27C>G (n.525+27C>G)
n.291+27C>G
c.474+27C>G (n.474+27C>G)
c.327+27C>G (n.327+27C>G)
c.294+27C>G (n.294+27C>G)
c.546+27C>G (n.546+27C>G)
 dbSNP gnomAD v4
6g.73641664G=CA1638222881SLC17A5c.525+27C= (n.525+27C=)
n.291+27C=
c.474+27C= (n.474+27C=)
c.327+27C= (n.327+27C=)
c.294+27C= (n.294+27C=)
c.546+27C= (n.546+27C=)
6g.73641664G>TCA2679404892SLC17A5c.525+27C>A (n.525+27C>A)
n.291+27C>A
c.474+27C>A (n.474+27C>A)
c.327+27C>A (n.327+27C>A)
c.294+27C>A (n.294+27C>A)
c.546+27C>A (n.546+27C>A)
 gnomAD v4
6g.73641669delCA2679404893SLC17A5c.525+25del (n.525+25del)
n.291+25del
c.474+25del (n.474+25del)
c.327+25del (n.327+25del)
c.294+25del (n.294+25del)
c.546+25del (n.546+25del)
 gnomAD v4
6g.73641667_73641670delinsAAACCA1638222883SLC17A5c.525+21_525+24delinsGTTT (n.525+21_525+24delinsGTTT)
n.291+21_291+24delinsGTTT
c.474+21_474+24delinsGTTT (n.474+21_474+24delinsGTTT)
c.327+21_327+24delinsGTTT (n.327+21_327+24delinsGTTT)
c.294+21_294+24delinsGTTT (n.294+21_294+24delinsGTTT)
c.546+21_546+24delinsGTTT (n.546+21_546+24delinsGTTT)
6g.73641670_73641672delCA1090533832SLC17A5c.525+21_525+23del (n.525+21_525+23del)
n.291+21_291+23del
c.474+21_474+23del (n.474+21_474+23del)
c.327+21_327+23del (n.327+21_327+23del)
c.294+21_294+23del (n.294+21_294+23del)
c.546+21_546+23del (n.546+21_546+23del)
 dbSNP gnomAD v3 gnomAD v4
6g.73641669A=CA1638222887SLC17A5c.525+22T= (n.525+22T=)
n.291+22T=
c.474+22T= (n.474+22T=)
c.327+22T= (n.327+22T=)
c.294+22T= (n.294+22T=)
c.546+22T= (n.546+22T=)
6g.73641669A>GCA568118761SLC17A5c.525+22T>C (n.525+22T>C)
n.291+22T>C
c.474+22T>C (n.474+22T>C)
c.327+22T>C (n.327+22T>C)
c.294+22T>C (n.294+22T>C)
c.546+22T>C (n.546+22T>C)
 dbSNP gnomAD v2 gnomAD v4
6g.73641669A>TCA568118762SLC17A5c.525+22T>A (n.525+22T>A)
n.291+22T>A
c.474+22T>A (n.474+22T>A)
c.327+22T>A (n.327+22T>A)
c.294+22T>A (n.294+22T>A)
c.546+22T>A (n.546+22T>A)
 dbSNP gnomAD v2 gnomAD v4
6g.73641669_73641670delinsACCA1638222890SLC17A5c.525+21_525+22delinsGT (n.525+21_525+22delinsGT)
n.291+21_291+22delinsGT
c.474+21_474+22delinsGT (n.474+21_474+22delinsGT)
c.327+21_327+22delinsGT (n.327+21_327+22delinsGT)
c.294+21_294+22delinsGT (n.294+21_294+22delinsGT)
c.546+21_546+22delinsGT (n.546+21_546+22delinsGT)
6g.73641670delCA1638222892SLC17A5c.525+21del (n.525+21del)
n.291+21del
c.474+21del (n.474+21del)
c.327+21del (n.327+21del)
c.294+21del (n.294+21del)
c.546+21del (n.546+21del)
 dbSNP gnomAD v4
6g.73641670C>TCA2679404894SLC17A5c.525+21G>A (n.525+21G>A)
n.291+21G>A
c.474+21G>A (n.474+21G>A)
c.327+21G>A (n.327+21G>A)
c.294+21G>A (n.294+21G>A)
c.546+21G>A (n.546+21G>A)
 gnomAD v4
6g.73641670_73641672delinsCAACA1638222893SLC17A5c.525+19_525+21delinsTTG (n.525+19_525+21delinsTTG)
n.291+19_291+21delinsTTG
c.474+19_474+21delinsTTG (n.474+19_474+21delinsTTG)
c.327+19_327+21delinsTTG (n.327+19_327+21delinsTTG)
c.294+19_294+21delinsTTG (n.294+19_294+21delinsTTG)
c.546+19_546+21delinsTTG (n.546+19_546+21delinsTTG)
6g.73641671A>CCA2697553549SLC17A5c.525+20T>G (n.525+20T>G)
n.291+20T>G
c.474+20T>G (n.474+20T>G)
c.327+20T>G (n.327+20T>G)
c.294+20T>G (n.294+20T>G)
c.546+20T>G (n.546+20T>G)
 ClinVar
6g.73641671A>GCA2679404895SLC17A5c.525+20T>C (n.525+20T>C)
n.291+20T>C
c.474+20T>C (n.474+20T>C)
c.327+20T>C (n.327+20T>C)
c.294+20T>C (n.294+20T>C)
c.546+20T>C (n.546+20T>C)
 gnomAD v4
6g.73641671_73641672delCA568118763SLC17A5c.525+19_525+20del (n.525+19_525+20del)
n.291+19_291+20del
c.474+19_474+20del (n.474+19_474+20del)
c.327+19_327+20del (n.327+19_327+20del)
c.294+19_294+20del (n.294+19_294+20del)
c.546+19_546+20del (n.546+19_546+20del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73641672A>GCA2578669712SLC17A5c.525+19T>C (n.525+19T>C)
n.291+19T>C
c.474+19T>C (n.474+19T>C)
c.327+19T>C (n.327+19T>C)
c.294+19T>C (n.294+19T>C)
c.546+19T>C (n.546+19T>C)
6g.73641677_73641678delCA2679404896SLC17A5c.525+18_525+19del (n.525+18_525+19del)
n.291+18_291+19del
c.474+18_474+19del (n.474+18_474+19del)
c.327+18_327+19del (n.327+18_327+19del)
c.294+18_294+19del (n.294+18_294+19del)
c.546+18_546+19del (n.546+18_546+19del)
 gnomAD v4
6g.73641673G>ACA2771705217SLC17A5c.525+18C>T (n.525+18C>T)
n.291+18C>T
c.474+18C>T (n.474+18C>T)
c.327+18C>T (n.327+18C>T)
c.294+18C>T (n.294+18C>T)
c.546+18C>T (n.546+18C>T)
6g.73641675G>ACA568118764SLC17A5c.525+16C>T (n.525+16C>T)
n.291+16C>T
c.474+16C>T (n.474+16C>T)
c.327+16C>T (n.327+16C>T)
c.294+16C>T (n.294+16C>T)
c.546+16C>T (n.546+16C>T)
 dbSNP gnomAD v2 gnomAD v4
6g.73641675G>CCA2580075786SLC17A5c.525+16C>G (n.525+16C>G)
n.291+16C>G
c.474+16C>G (n.474+16C>G)
c.327+16C>G (n.327+16C>G)
c.294+16C>G (n.294+16C>G)
c.546+16C>G (n.546+16C>G)
 ClinVar
6g.73641675G=CA1638222895SLC17A5c.525+16C= (n.525+16C=)
n.291+16C=
c.474+16C= (n.474+16C=)
c.327+16C= (n.327+16C=)
c.294+16C= (n.294+16C=)
c.546+16C= (n.546+16C=)
6g.73641676A>GCA2679404897SLC17A5c.525+15T>C (n.525+15T>C)
n.291+15T>C
c.474+15T>C (n.474+15T>C)
c.327+15T>C (n.327+15T>C)
c.294+15T>C (n.294+15T>C)
c.546+15T>C (n.546+15T>C)
 gnomAD v4
6g.73641677G>ACA140975592SLC17A5c.525+14C>T (n.525+14C>T)
n.291+14C>T
c.474+14C>T (n.474+14C>T)
c.327+14C>T (n.327+14C>T)
c.294+14C>T (n.294+14C>T)
c.546+14C>T (n.546+14C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73641677G>CCA2771705219SLC17A5c.525+14C>G (n.525+14C>G)
n.291+14C>G
c.474+14C>G (n.474+14C>G)
c.327+14C>G (n.327+14C>G)
c.294+14C>G (n.294+14C>G)
c.546+14C>G (n.546+14C>G)
6g.73641677G=CA1638222898SLC17A5c.525+14C= (n.525+14C=)
n.291+14C=
c.474+14C= (n.474+14C=)
c.327+14C= (n.327+14C=)
c.294+14C= (n.294+14C=)
c.546+14C= (n.546+14C=)
6g.73641677G>TCA2578669713SLC17A5c.525+14C>A (n.525+14C>A)
n.291+14C>A
c.474+14C>A (n.474+14C>A)
c.327+14C>A (n.327+14C>A)
c.294+14C>A (n.294+14C>A)
c.546+14C>A (n.546+14C>A)
6g.73641681A>CCA2578669714SLC17A5c.525+10T>G (n.525+10T>G)
n.291+10T>G
c.474+10T>G (n.474+10T>G)
c.327+10T>G (n.327+10T>G)
c.294+10T>G (n.294+10T>G)
c.546+10T>G (n.546+10T>G)
 gnomAD v4
6g.73641682G>ACA2580075787SLC17A5c.525+9C>T (n.525+9C>T)
n.291+9C>T
c.474+9C>T (n.474+9C>T)
c.327+9C>T (n.327+9C>T)
c.294+9C>T (n.294+9C>T)
c.546+9C>T (n.546+9C>T)
 ClinVar
6g.73641682G>CCA1638222901SLC17A5c.525+9C>G (n.525+9C>G)
n.291+9C>G
c.474+9C>G (n.474+9C>G)
c.327+9C>G (n.327+9C>G)
c.294+9C>G (n.294+9C>G)
c.546+9C>G (n.546+9C>G)
 ClinVar dbSNP gnomAD v4
6g.73641682G=CA1638222900SLC17A5c.525+9C= (n.525+9C=)
n.291+9C=
c.474+9C= (n.474+9C=)
c.327+9C= (n.327+9C=)
c.294+9C= (n.294+9C=)
c.546+9C= (n.546+9C=)
6g.73641683A=CA1638222903SLC17A5c.525+8T= (n.525+8T=)
n.291+8T=
c.474+8T= (n.474+8T=)
c.327+8T= (n.327+8T=)
c.294+8T= (n.294+8T=)
c.546+8T= (n.546+8T=)
6g.73641683A>CCA1638222904SLC17A5c.525+8T>G (n.525+8T>G)
n.291+8T>G
c.474+8T>G (n.474+8T>G)
c.327+8T>G (n.327+8T>G)
c.294+8T>G (n.294+8T>G)
c.546+8T>G (n.546+8T>G)
 dbSNP
6g.73641685A=CA1638222907SLC17A5c.525+6T= (n.525+6T=)
n.291+6T=
c.474+6T= (n.474+6T=)
c.327+6T= (n.327+6T=)
c.294+6T= (n.294+6T=)
c.546+6T= (n.546+6T=)
6g.73641685A>GCA140975593SLC17A5c.525+6T>C (n.525+6T>C)
n.291+6T>C
c.474+6T>C (n.474+6T>C)
c.327+6T>C (n.327+6T>C)
c.294+6T>C (n.294+6T>C)
c.546+6T>C (n.546+6T>C)
 dbSNP gnomAD v2 gnomAD v4
6g.73641687T>CCA3890521SLC17A5c.525+4A>G (n.525+4A>G)
n.291+4A>G
c.474+4A>G (n.474+4A>G)
c.327+4A>G (n.327+4A>G)
c.294+4A>G (n.294+4A>G)
c.546+4A>G (n.546+4A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641687T>GCA2679404898SLC17A5c.525+4A>C (n.525+4A>C)
n.291+4A>C
c.474+4A>C (n.474+4A>C)
c.327+4A>C (n.327+4A>C)
c.294+4A>C (n.294+4A>C)
c.546+4A>C (n.546+4A>C)
 gnomAD v4
6g.73641687T=CA1638222911SLC17A5c.525+4A= (n.525+4A=)
n.291+4A=
c.474+4A= (n.474+4A=)
c.327+4A= (n.327+4A=)
c.294+4A= (n.294+4A=)
c.546+4A= (n.546+4A=)
6g.73641688T>CCA3890522SLC17A5c.525+3A>G (n.525+3A>G)
n.291+3A>G
c.474+3A>G (n.474+3A>G)
c.327+3A>G (n.327+3A>G)
c.294+3A>G (n.294+3A>G)
c.546+3A>G (n.546+3A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641688T=CA1638222913SLC17A5c.525+3A= (n.525+3A=)
n.291+3A=
c.474+3A= (n.474+3A=)
c.327+3A= (n.327+3A=)
c.294+3A= (n.294+3A=)
c.546+3A= (n.546+3A=)
6g.73641689A>CCA364717799SLC17A5c.525+2T>G (n.525+2T>G)
n.291+2T>G
c.474+2T>G (n.474+2T>G)
c.327+2T>G (n.327+2T>G)
c.294+2T>G (n.294+2T>G)
c.546+2T>G (n.546+2T>G)
6g.73641689A>GCA364717800SLC17A5c.525+2T>C (n.525+2T>C)
n.291+2T>C
c.474+2T>C (n.474+2T>C)
c.327+2T>C (n.327+2T>C)
c.294+2T>C (n.294+2T>C)
c.546+2T>C (n.546+2T>C)
6g.73641689A>TCA364717802SLC17A5c.525+2T>A (n.525+2T>A)
n.291+2T>A
c.474+2T>A (n.474+2T>A)
c.327+2T>A (n.327+2T>A)
c.294+2T>A (n.294+2T>A)
c.546+2T>A (n.546+2T>A)
6g.73641690C>ACA364717805SLC17A5c.525+1G>T (n.525+1G>T)
n.291+1G>T
c.474+1G>T (n.474+1G>T)
c.327+1G>T (n.327+1G>T)
c.294+1G>T (n.294+1G>T)
c.546+1G>T (n.546+1G>T)
6g.73641690C=CA1638222919SLC17A5c.525+1G= (n.525+1G=)
n.291+1G=
c.474+1G= (n.474+1G=)
c.327+1G= (n.327+1G=)
c.294+1G= (n.294+1G=)
c.546+1G= (n.546+1G=)
6g.73641690C>GCA364717806SLC17A5c.525+1G>C (n.525+1G>C)
n.291+1G>C
c.474+1G>C (n.474+1G>C)
c.327+1G>C (n.327+1G>C)
c.294+1G>C (n.294+1G>C)
c.546+1G>C (n.546+1G>C)
6g.73641690C>TCA140975601SLC17A5c.525+1G>A (n.525+1G>A)
n.291+1G>A
c.474+1G>A (n.474+1G>A)
c.327+1G>A (n.327+1G>A)
c.294+1G>A (n.294+1G>A)
c.546+1G>A (n.546+1G>A)
 dbSNP
6g.73641691C>ACA364717808SLC17A5c.525G>T (p.Glu175Asp)
n.291G>T
c.474G>T (p.Glu158Asp)
c.327G>T (p.Glu109Asp)
c.294G>T (p.Glu98Asp)
c.546G>T (p.Glu182Asp)
6g.73641691C>GCA364717809SLC17A5c.525G>C (p.Glu175Asp)
n.291G>C
c.474G>C (p.Glu158Asp)
c.327G>C (p.Glu109Asp)
c.294G>C (p.Glu98Asp)
c.546G>C (p.Glu182Asp)
6g.73641691C>TCA450912067SLC17A5c.525G>A (p.Glu175=)
n.291G>A
c.474G>A (p.Glu158=)
c.327G>A (p.Glu109=)
c.294G>A (p.Glu98=)
c.546G>A (p.Glu182=)
 gnomAD v4
6g.73641692T>ACA364717814SLC17A5c.524A>T (p.Glu175Val)
n.290A>T
c.473A>T (p.Glu158Val)
c.326A>T (p.Glu109Val)
c.293A>T (p.Glu98Val)
c.545A>T (p.Glu182Val)
6g.73641692T>CCA364717811SLC17A5c.524A>G (p.Glu175Gly)
n.290A>G
c.473A>G (p.Glu158Gly)
c.326A>G (p.Glu109Gly)
c.293A>G (p.Glu98Gly)
c.545A>G (p.Glu182Gly)
6g.73641692T>GCA364717812SLC17A5c.524A>C (p.Glu175Ala)
n.290A>C
c.473A>C (p.Glu158Ala)
c.326A>C (p.Glu109Ala)
c.293A>C (p.Glu98Ala)
c.545A>C (p.Glu182Ala)
6g.73641693C>ACA364717815SLC17A5c.523G>T (p.Glu175Ter)
n.289G>T
c.472G>T (p.Glu158Ter)
c.325G>T (p.Glu109Ter)
c.292G>T (p.Glu98Ter)
c.544G>T (p.Glu182Ter)
6g.73641693C=CA1638222922SLC17A5c.523G= (p.Glu175=)
n.289G=
c.472G= (p.Glu158=)
c.325G= (p.Glu109=)
c.292G= (p.Glu98=)
c.544G= (p.Glu182=)
6g.73641693C>GCA364717816SLC17A5c.523G>C (p.Glu175Gln)
n.289G>C
c.472G>C (p.Glu158Gln)
c.325G>C (p.Glu109Gln)
c.292G>C (p.Glu98Gln)
c.544G>C (p.Glu182Gln)
6g.73641693C>TCA140975605SLC17A5c.523G>A (p.Glu175Lys)
n.289G>A
c.472G>A (p.Glu158Lys)
c.325G>A (p.Glu109Lys)
c.292G>A (p.Glu98Lys)
c.544G>A (p.Glu182Lys)
 dbSNP gnomAD v4
6g.73641694T>ACA450912068SLC17A5c.522A>T (p.Gly174=)
n.288A>T
c.471A>T (p.Gly157=)
c.324A>T (p.Gly108=)
c.291A>T (p.Gly97=)
c.543A>T (p.Gly181=)
6g.73641694T>CCA450912069SLC17A5c.522A>G (p.Gly174=)
n.288A>G
c.471A>G (p.Gly157=)
c.324A>G (p.Gly108=)
c.291A>G (p.Gly97=)
c.543A>G (p.Gly181=)
6g.73641694T>GCA450912070SLC17A5c.522A>C (p.Gly174=)
n.288A>C
c.471A>C (p.Gly157=)
c.324A>C (p.Gly108=)
c.291A>C (p.Gly97=)
c.543A>C (p.Gly181=)
6g.73641695C>ACA364717818SLC17A5c.521G>T (p.Gly174Val)
n.287G>T
c.470G>T (p.Gly157Val)
c.323G>T (p.Gly108Val)
c.290G>T (p.Gly97Val)
c.542G>T (p.Gly181Val)
 gnomAD v4
6g.73641695C=CA1638222925SLC17A5c.521G= (p.Gly174=)
n.287G=
c.470G= (p.Gly157=)
c.323G= (p.Gly108=)
c.290G= (p.Gly97=)
c.542G= (p.Gly181=)
6g.73641695C>GCA364717820SLC17A5c.521G>C (p.Gly174Ala)
n.287G>C
c.470G>C (p.Gly157Ala)
c.323G>C (p.Gly108Ala)
c.290G>C (p.Gly97Ala)
c.542G>C (p.Gly181Ala)
 gnomAD v4
6g.73641695C>TCA3890523SLC17A5c.521G>A (p.Gly174Glu)
n.287G>A
c.470G>A (p.Gly157Glu)
c.323G>A (p.Gly108Glu)
c.290G>A (p.Gly97Glu)
c.542G>A (p.Gly181Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73641696C>ACA364717827SLC17A5c.520G>T (p.Gly174Ter)
n.286G>T
c.469G>T (p.Gly157Ter)
c.322G>T (p.Gly108Ter)
c.289G>T (p.Gly97Ter)
c.541G>T (p.Gly181Ter)
6g.73641696C=CA1638222927SLC17A5c.520G= (p.Gly174=)
n.286G=
c.469G= (p.Gly157=)
c.322G= (p.Gly108=)
c.289G= (p.Gly97=)
c.541G= (p.Gly181=)
6g.73641696C>GCA364717828SLC17A5c.520G>C (p.Gly174Arg)
n.286G>C
c.469G>C (p.Gly157Arg)
c.322G>C (p.Gly108Arg)
c.289G>C (p.Gly97Arg)
c.541G>C (p.Gly181Arg)
6g.73641696C>TCA364717830SLC17A5c.520G>A (p.Gly174Arg)
n.286G>A
c.469G>A (p.Gly157Arg)
c.322G>A (p.Gly108Arg)
c.289G>A (p.Gly97Arg)
c.541G>A (p.Gly181Arg)
 dbSNP gnomAD v4
6g.73641697T>ACA450912071SLC17A5c.519A>T (p.Leu173=)
n.285A>T
c.468A>T (p.Leu156=)
c.321A>T (p.Leu107=)
c.288A>T (p.Leu96=)
c.540A>T (p.Leu180=)
6g.73641697T>CCA3890524SLC17A5c.519A>G (p.Leu173=)
n.285A>G
c.468A>G (p.Leu156=)
c.321A>G (p.Leu107=)
c.288A>G (p.Leu96=)
c.540A>G (p.Leu180=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641697T>GCA3890525SLC17A5c.519A>C (p.Leu173=)
n.285A>C
c.468A>C (p.Leu156=)
c.321A>C (p.Leu107=)
c.288A>C (p.Leu96=)
c.540A>C (p.Leu180=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73641697T=CA1638222932SLC17A5c.519A= (p.Leu173=)
n.285A=
c.468A= (p.Leu156=)
c.321A= (p.Leu107=)
c.288A= (p.Leu96=)
c.540A= (p.Leu180=)
6g.73641698A=CA1638222936SLC17A5c.518T= (p.Leu173=)
n.284T=
c.467T= (p.Leu156=)
c.320T= (p.Leu107=)
c.287T= (p.Leu96=)
c.539T= (p.Leu180=)
6g.73641698A>CCA364717836SLC17A5c.518T>G (p.Leu173Arg)
n.284T>G
c.467T>G (p.Leu156Arg)
c.320T>G (p.Leu107Arg)
c.287T>G (p.Leu96Arg)
c.539T>G (p.Leu180Arg)
6g.73641698A>GCA364717834SLC17A5c.518T>C (p.Leu173Pro)
n.284T>C
c.467T>C (p.Leu156Pro)
c.320T>C (p.Leu107Pro)
c.287T>C (p.Leu96Pro)
c.539T>C (p.Leu180Pro)
 dbSNP
6g.73641698A>TCA364717832SLC17A5c.518T>A (p.Leu173Gln)
n.284T>A
c.467T>A (p.Leu156Gln)
c.320T>A (p.Leu107Gln)
c.287T>A (p.Leu96Gln)
c.539T>A (p.Leu180Gln)
6g.73641699G>ACA450912072SLC17A5c.517C>T (p.Leu173=)
n.283C>T
c.466C>T (p.Leu156=)
c.319C>T (p.Leu107=)
c.286C>T (p.Leu96=)
c.538C>T (p.Leu180=)
 ClinVar dbSNP gnomAD v4
6g.73641699G>CCA364717838SLC17A5c.517C>G (p.Leu173Val)
n.283C>G
c.466C>G (p.Leu156Val)
c.319C>G (p.Leu107Val)
c.286C>G (p.Leu96Val)
c.538C>G (p.Leu180Val)
6g.73641699G>TCA364717839SLC17A5c.517C>A (p.Leu173Ile)
n.283C>A
c.466C>A (p.Leu156Ile)
c.319C>A (p.Leu107Ile)
c.286C>A (p.Leu96Ile)
c.538C>A (p.Leu180Ile)
6g.73641700T>ACA450912073SLC17A5c.516A>T (p.Gly172=)
n.282A>T
c.465A>T (p.Gly155=)
c.318A>T (p.Gly106=)
c.285A>T (p.Gly95=)
c.537A>T (p.Gly179=)
6g.73641700T>CCA450912074SLC17A5c.516A>G (p.Gly172=)
n.282A>G
c.465A>G (p.Gly155=)
c.318A>G (p.Gly106=)
c.285A>G (p.Gly95=)
c.537A>G (p.Gly179=)
6g.73641700T>GCA450912075SLC17A5c.516A>C (p.Gly172=)
n.282A>C
c.465A>C (p.Gly155=)
c.318A>C (p.Gly106=)
c.285A>C (p.Gly95=)
c.537A>C (p.Gly179=)
6g.73641701C>ACA364717840SLC17A5c.515G>T (p.Gly172Val)
n.281G>T
c.464G>T (p.Gly155Val)
c.317G>T (p.Gly106Val)
c.284G>T (p.Gly95Val)
c.536G>T (p.Gly179Val)
6g.73641701C>GCA364717842SLC17A5c.515G>C (p.Gly172Ala)
n.281G>C
c.464G>C (p.Gly155Ala)
c.317G>C (p.Gly106Ala)
c.284G>C (p.Gly95Ala)
c.536G>C (p.Gly179Ala)
6g.73641701C>TCA364717844SLC17A5c.515G>A (p.Gly172Glu)
n.281G>A
c.464G>A (p.Gly155Glu)
c.317G>A (p.Gly106Glu)
c.284G>A (p.Gly95Glu)
c.536G>A (p.Gly179Glu)
6g.73641702C>ACA364717845SLC17A5c.514G>T (p.Gly172Ter)
n.280G>T
c.463G>T (p.Gly155Ter)
c.316G>T (p.Gly106Ter)
c.283G>T (p.Gly95Ter)
c.535G>T (p.Gly179Ter)
6g.73641702C>GCA364717847SLC17A5c.514G>C (p.Gly172Arg)
n.280G>C
c.463G>C (p.Gly155Arg)
c.316G>C (p.Gly106Arg)
c.283G>C (p.Gly95Arg)
c.535G>C (p.Gly179Arg)
6g.73641702C>TCA364717849SLC17A5c.514G>A (p.Gly172Arg)
n.280G>A
c.463G>A (p.Gly155Arg)
c.316G>A (p.Gly106Arg)
c.283G>A (p.Gly95Arg)
c.535G>A (p.Gly179Arg)
 gnomAD v4
6g.73641704_73641706delCA2573141129SLC17A5c.512_514del (p.Glu171del)
n.278_280del
c.461_463del (p.Glu154del)
c.314_316del (p.Glu105del)
c.281_283del (p.Glu94del)
c.533_535del (p.Glu178del)
 ClinVar dbSNP
6g.73641703T>ACA364717851SLC17A5c.513A>T (p.Glu171Asp)
n.279A>T
c.462A>T (p.Glu154Asp)
c.315A>T (p.Glu105Asp)
c.282A>T (p.Glu94Asp)
c.534A>T (p.Glu178Asp)
6g.73641703T>CCA450912076SLC17A5c.513A>G (p.Glu171=)
n.279A>G
c.462A>G (p.Glu154=)
c.315A>G (p.Glu105=)
c.282A>G (p.Glu94=)
c.534A>G (p.Glu178=)
6g.73641703T>GCA364717854SLC17A5c.513A>C (p.Glu171Asp)
n.279A>C
c.462A>C (p.Glu154Asp)
c.315A>C (p.Glu105Asp)
c.282A>C (p.Glu94Asp)
c.534A>C (p.Glu178Asp)
6g.73641704T>ACA364717856SLC17A5c.512A>T (p.Glu171Val)
n.278A>T
c.461A>T (p.Glu154Val)
c.314A>T (p.Glu105Val)
c.281A>T (p.Glu94Val)
c.533A>T (p.Glu178Val)
6g.73641704T>CCA364717857SLC17A5c.512A>G (p.Glu171Gly)
n.278A>G
c.461A>G (p.Glu154Gly)
c.314A>G (p.Glu105Gly)
c.281A>G (p.Glu94Gly)
c.533A>G (p.Glu178Gly)
6g.73641704T>GCA364717859SLC17A5c.512A>C (p.Glu171Ala)
n.278A>C
c.461A>C (p.Glu154Ala)
c.314A>C (p.Glu105Ala)
c.281A>C (p.Glu94Ala)
c.533A>C (p.Glu178Ala)
6g.73641705C>ACA364717865SLC17A5c.511G>T (p.Glu171Ter)
n.277G>T
c.460G>T (p.Glu154Ter)
c.313G>T (p.Glu105Ter)
c.280G>T (p.Glu94Ter)
c.532G>T (p.Glu178Ter)
6g.73641705C>GCA364717861SLC17A5c.511G>C (p.Glu171Gln)
n.277G>C
c.460G>C (p.Glu154Gln)
c.313G>C (p.Glu105Gln)
c.280G>C (p.Glu94Gln)
c.532G>C (p.Glu178Gln)
6g.73641705C>TCA364717863SLC17A5c.511G>A (p.Glu171Lys)
n.277G>A
c.460G>A (p.Glu154Lys)
c.313G>A (p.Glu105Lys)
c.280G>A (p.Glu94Lys)
c.532G>A (p.Glu178Lys)
 ClinVar
6g.[73641705C>T;73641707A>G]CA2580573348SLC17A5c.[509T>C;511G>A] (p.[Leu170Pro;Glu171Lys])
n.[275T>C;277G>A]
c.[458T>C;460G>A] (p.[Leu153Pro;Glu154Lys])
c.[311T>C;313G>A] (p.[Leu104Pro;Glu105Lys])
c.[278T>C;280G>A] (p.[Leu93Pro;Glu94Lys])
c.[530T>C;532G>A] (p.[Leu177Pro;Glu178Lys])
 ClinVar
6g.73641706T>ACA450912077SLC17A5c.510A>T (p.Leu170=)
n.276A>T
c.459A>T (p.Leu153=)
c.312A>T (p.Leu104=)
c.279A>T (p.Leu93=)
c.531A>T (p.Leu177=)
6g.73641706T>CCA450912078SLC17A5c.510A>G (p.Leu170=)
n.276A>G
c.459A>G (p.Leu153=)
c.312A>G (p.Leu104=)
c.279A>G (p.Leu93=)
c.531A>G (p.Leu177=)
6g.73641706T>GCA140975626SLC17A5c.510A>C (p.Leu170=)
n.276A>C
c.459A>C (p.Leu153=)
c.312A>C (p.Leu104=)
c.279A>C (p.Leu93=)
c.531A>C (p.Leu177=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73641706T=CA1638222940SLC17A5c.510A= (p.Leu170=)
n.276A=
c.459A= (p.Leu153=)
c.312A= (p.Leu104=)
c.279A= (p.Leu93=)
c.531A= (p.Leu177=)
6g.73641707A>CCA364717866SLC17A5c.509T>G (p.Leu170Arg)
n.275T>G
c.458T>G (p.Leu153Arg)
c.311T>G (p.Leu104Arg)
c.278T>G (p.Leu93Arg)
c.530T>G (p.Leu177Arg)
6g.73641707A>GCA364717867SLC17A5c.509T>C (p.Leu170Pro)
n.275T>C
c.458T>C (p.Leu153Pro)
c.311T>C (p.Leu104Pro)
c.278T>C (p.Leu93Pro)
c.530T>C (p.Leu177Pro)
 ClinVar
6g.73641707A>TCA364717869SLC17A5c.509T>A (p.Leu170Gln)
n.275T>A
c.458T>A (p.Leu153Gln)
c.311T>A (p.Leu104Gln)
c.278T>A (p.Leu93Gln)
c.530T>A (p.Leu177Gln)
6g.73641708G>ACA450912079SLC17A5c.508C>T (p.Leu170=)
n.274C>T
c.457C>T (p.Leu153=)
c.310C>T (p.Leu104=)
c.277C>T (p.Leu93=)
c.529C>T (p.Leu177=)
 dbSNP
6g.73641708G>CCA364717870SLC17A5c.508C>G (p.Leu170Val)
n.274C>G
c.457C>G (p.Leu153Val)
c.310C>G (p.Leu104Val)
c.277C>G (p.Leu93Val)
c.529C>G (p.Leu177Val)
6g.73641708G=CA1638222945SLC17A5c.508C= (p.Leu170=)
n.274C=
c.457C= (p.Leu153=)
c.310C= (p.Leu104=)
c.277C= (p.Leu93=)
c.529C= (p.Leu177=)
6g.73641708G>TCA364717871SLC17A5c.508C>A (p.Leu170Ile)
n.274C>A
c.457C>A (p.Leu153Ile)
c.310C>A (p.Leu104Ile)
c.277C>A (p.Leu93Ile)
c.529C>A (p.Leu177Ile)
6g.73641708_73641709delinsGTCA1638222944SLC17A5c.507_508delinsAC (p.Ala169=)
n.273_274delinsAC
c.456_457delinsAC (p.Ala152=)
c.309_310delinsAC (p.Ala103=)
c.276_277delinsAC (p.Ala92=)
c.528_529delinsAC (p.Ala176=)
6g.73641709delCA263927SLC17A5c.507del (p.Leu170Ter)
n.273del
c.456del (p.Leu153Ter)
c.309del (p.Leu104Ter)
c.276del (p.Leu93Ter)
c.528del (p.Leu177Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.73641709T>ACA450912080SLC17A5c.507A>T (p.Ala169=)
n.273A>T
c.456A>T (p.Ala152=)
c.309A>T (p.Ala103=)
c.276A>T (p.Ala92=)
c.528A>T (p.Ala176=)
 ClinVar
6g.73641709T>CCA3890527SLC17A5c.507A>G (p.Ala169=)
n.273A>G
c.456A>G (p.Ala152=)
c.309A>G (p.Ala103=)
c.276A>G (p.Ala92=)
c.528A>G (p.Ala176=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641709T>GCA3890526SLC17A5c.507A>C (p.Ala169=)
n.273A>C
c.456A>C (p.Ala152=)
c.309A>C (p.Ala103=)
c.276A>C (p.Ala92=)
c.528A>C (p.Ala176=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641709T=CA1638222953SLC17A5c.507A= (p.Ala169=)
n.273A=
c.456A= (p.Ala152=)
c.309A= (p.Ala103=)
c.276A= (p.Ala92=)
c.528A= (p.Ala176=)
6g.73641710G>ACA364717876SLC17A5c.506C>T (p.Ala169Val)
n.272C>T
c.455C>T (p.Ala152Val)
c.308C>T (p.Ala103Val)
c.275C>T (p.Ala92Val)
c.527C>T (p.Ala176Val)
 gnomAD v4
6g.73641710G>CCA364717877SLC17A5c.506C>G (p.Ala169Gly)
n.272C>G
c.455C>G (p.Ala152Gly)
c.308C>G (p.Ala103Gly)
c.275C>G (p.Ala92Gly)
c.527C>G (p.Ala176Gly)
6g.73641710G>TCA364717879SLC17A5c.506C>A (p.Ala169Glu)
n.272C>A
c.455C>A (p.Ala152Glu)
c.308C>A (p.Ala103Glu)
c.275C>A (p.Ala92Glu)
c.527C>A (p.Ala176Glu)
6g.73641711C>ACA364717882SLC17A5c.505G>T (p.Ala169Ser)
n.271G>T
c.454G>T (p.Ala152Ser)
c.307G>T (p.Ala103Ser)
c.274G>T (p.Ala92Ser)
c.526G>T (p.Ala176Ser)
 gnomAD v4
6g.73641711C=CA1638222958SLC17A5c.505G= (p.Ala169=)
n.271G=
c.454G= (p.Ala152=)
c.307G= (p.Ala103=)
c.274G= (p.Ala92=)
c.526G= (p.Ala176=)
6g.73641711C>GCA364717883SLC17A5c.505G>C (p.Ala169Pro)
n.271G>C
c.454G>C (p.Ala152Pro)
c.307G>C (p.Ala103Pro)
c.274G>C (p.Ala92Pro)
c.526G>C (p.Ala176Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73641711C>TCA364717880SLC17A5c.505G>A (p.Ala169Thr)
n.271G>A
c.454G>A (p.Ala152Thr)
c.307G>A (p.Ala103Thr)
c.274G>A (p.Ala92Thr)
c.526G>A (p.Ala176Thr)
6g.73641712T>ACA364717885SLC17A5c.504A>T (p.Arg168Ser)
n.270A>T
c.453A>T (p.Arg151Ser)
c.306A>T (p.Arg102Ser)
c.273A>T (p.Arg91Ser)
c.525A>T (p.Arg175Ser)
6g.73641712T>CCA450912081SLC17A5c.504A>G (p.Arg168=)
n.270A>G
c.453A>G (p.Arg151=)
c.306A>G (p.Arg102=)
c.273A>G (p.Arg91=)
c.525A>G (p.Arg175=)
6g.73641712T>GCA364717887SLC17A5c.504A>C (p.Arg168Ser)
n.270A>C
c.453A>C (p.Arg151Ser)
c.306A>C (p.Arg102Ser)
c.273A>C (p.Arg91Ser)
c.525A>C (p.Arg175Ser)
6g.73641713C>ACA364717888SLC17A5c.503G>T (p.Arg168Ile)
n.269G>T
c.452G>T (p.Arg151Ile)
c.305G>T (p.Arg102Ile)
c.272G>T (p.Arg91Ile)
c.524G>T (p.Arg175Ile)
6g.73641713C>GCA364717890SLC17A5c.503G>C (p.Arg168Thr)
n.269G>C
c.452G>C (p.Arg151Thr)
c.305G>C (p.Arg102Thr)
c.272G>C (p.Arg91Thr)
c.524G>C (p.Arg175Thr)
6g.73641713C>TCA364717891SLC17A5c.503G>A (p.Arg168Lys)
n.269G>A
c.452G>A (p.Arg151Lys)
c.305G>A (p.Arg102Lys)
c.272G>A (p.Arg91Lys)
c.524G>A (p.Arg175Lys)
6g.73641714T>ACA364717892SLC17A5c.502A>T (p.Arg168Ter)
n.268A>T
c.451A>T (p.Arg151Ter)
c.304A>T (p.Arg102Ter)
c.271A>T (p.Arg91Ter)
c.523A>T (p.Arg175Ter)
6g.73641714T>CCA364717893SLC17A5c.502A>G (p.Arg168Gly)
n.268A>G
c.451A>G (p.Arg151Gly)
c.304A>G (p.Arg102Gly)
c.271A>G (p.Arg91Gly)
c.523A>G (p.Arg175Gly)
 gnomAD v4
6g.73641714T>GCA450912082SLC17A5c.502A>C (p.Arg168=)
n.268A>C
c.451A>C (p.Arg151=)
c.304A>C (p.Arg102=)
c.271A>C (p.Arg91=)
c.523A>C (p.Arg175=)
6g.73641715G>ACA450912083SLC17A5c.501C>T (p.Leu167=)
n.267C>T
c.450C>T (p.Leu150=)
c.303C>T (p.Leu101=)
c.270C>T (p.Leu90=)
c.522C>T (p.Leu174=)
6g.73641715G>CCA450912084SLC17A5c.501C>G (p.Leu167=)
n.267C>G
c.450C>G (p.Leu150=)
c.303C>G (p.Leu101=)
c.270C>G (p.Leu90=)
c.522C>G (p.Leu174=)
6g.73641715G>TCA450912085SLC17A5c.501C>A (p.Leu167=)
n.267C>A
c.450C>A (p.Leu150=)
c.303C>A (p.Leu101=)
c.270C>A (p.Leu90=)
c.522C>A (p.Leu174=)
6g.73641716A=CA1638222966SLC17A5c.500T= (p.Leu167=)
n.266T=
c.449T= (p.Leu150=)
c.302T= (p.Leu101=)
c.269T= (p.Leu90=)
c.521T= (p.Leu174=)
6g.73641716A>CCA364717894SLC17A5c.500T>G (p.Leu167Arg)
n.266T>G
c.449T>G (p.Leu150Arg)
c.302T>G (p.Leu101Arg)
c.269T>G (p.Leu90Arg)
c.521T>G (p.Leu174Arg)
6g.73641716A>GCA267594SLC17A5c.500T>C (p.Leu167Pro)
n.266T>C
c.449T>C (p.Leu150Pro)
c.302T>C (p.Leu101Pro)
c.269T>C (p.Leu90Pro)
c.521T>C (p.Leu174Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73641716A>TCA364717895SLC17A5c.500T>A (p.Leu167His)
n.266T>A
c.449T>A (p.Leu150His)
c.302T>A (p.Leu101His)
c.269T>A (p.Leu90His)
c.521T>A (p.Leu174His)
6g.73641717G>ACA364717896SLC17A5c.499C>T (p.Leu167Phe)
n.265C>T
c.448C>T (p.Leu150Phe)
c.301C>T (p.Leu101Phe)
c.268C>T (p.Leu90Phe)
c.520C>T (p.Leu174Phe)
 gnomAD v4 COSMIC
6g.73641717G>CCA364717899SLC17A5c.499C>G (p.Leu167Val)
n.265C>G
c.448C>G (p.Leu150Val)
c.301C>G (p.Leu101Val)
c.268C>G (p.Leu90Val)
c.520C>G (p.Leu174Val)
6g.73641717G>TCA364717901SLC17A5c.499C>A (p.Leu167Ile)
n.265C>A
c.448C>A (p.Leu150Ile)
c.301C>A (p.Leu101Ile)
c.268C>A (p.Leu90Ile)
c.520C>A (p.Leu174Ile)
6g.73641718T>ACA450912086SLC17A5c.498A>T (p.Val166=)
n.264A>T
c.447A>T (p.Val149=)
c.300A>T (p.Val100=)
c.267A>T (p.Val89=)
c.519A>T (p.Val173=)
6g.73641718T>CCA450912087SLC17A5c.498A>G (p.Val166=)
n.264A>G
c.447A>G (p.Val149=)
c.300A>G (p.Val100=)
c.267A>G (p.Val89=)
c.519A>G (p.Val173=)
 dbSNP gnomAD v4
6g.73641718T>GCA450912088SLC17A5c.498A>C (p.Val166=)
n.264A>C
c.447A>C (p.Val149=)
c.300A>C (p.Val100=)
c.267A>C (p.Val89=)
c.519A>C (p.Val173=)
 gnomAD v4
6g.73641718T=CA1638222974SLC17A5c.498A= (p.Val166=)
n.264A=
c.447A= (p.Val149=)
c.300A= (p.Val100=)
c.267A= (p.Val89=)
c.519A= (p.Val173=)
6g.73641719A=CA1638222976SLC17A5c.497T= (p.Val166=)
n.263T=
c.446T= (p.Val149=)
c.299T= (p.Val100=)
c.266T= (p.Val89=)
c.518T= (p.Val173=)
6g.73641719A>CCA364717907SLC17A5c.497T>G (p.Val166Gly)
n.263T>G
c.446T>G (p.Val149Gly)
c.299T>G (p.Val100Gly)
c.266T>G (p.Val89Gly)
c.518T>G (p.Val173Gly)
6g.73641719A>GCA364717905SLC17A5c.497T>C (p.Val166Ala)
n.263T>C
c.446T>C (p.Val149Ala)
c.299T>C (p.Val100Ala)
c.266T>C (p.Val89Ala)
c.518T>C (p.Val173Ala)
 dbSNP gnomAD v4
6g.73641719A>TCA364717903SLC17A5c.497T>A (p.Val166Glu)
n.263T>A
c.446T>A (p.Val149Glu)
c.299T>A (p.Val100Glu)
c.266T>A (p.Val89Glu)
c.518T>A (p.Val173Glu)
6g.73641720C>ACA364717910SLC17A5c.496G>T (p.Val166Leu)
n.262G>T
c.445G>T (p.Val149Leu)
c.298G>T (p.Val100Leu)
c.265G>T (p.Val89Leu)
c.517G>T (p.Val173Leu)
6g.73641720C>GCA364717912SLC17A5c.496G>C (p.Val166Leu)
n.262G>C
c.445G>C (p.Val149Leu)
c.298G>C (p.Val100Leu)
c.265G>C (p.Val89Leu)
c.517G>C (p.Val173Leu)
6g.73641720C>TCA364717914SLC17A5c.496G>A (p.Val166Ile)
n.262G>A
c.445G>A (p.Val149Ile)
c.298G>A (p.Val100Ile)
c.265G>A (p.Val89Ile)
c.517G>A (p.Val173Ile)
6g.73641721A>CCA364717916SLC17A5c.495T>G (p.Ile165Met)
n.261T>G
c.444T>G (p.Ile148Met)
c.297T>G (p.Ile99Met)
c.264T>G (p.Ile88Met)
c.516T>G (p.Ile172Met)
 gnomAD v4
6g.73641721A>GCA450912089SLC17A5c.495T>C (p.Ile165=)
n.261T>C
c.444T>C (p.Ile148=)
c.297T>C (p.Ile99=)
c.264T>C (p.Ile88=)
c.516T>C (p.Ile172=)
6g.73641721A>TCA450912090SLC17A5c.495T>A (p.Ile165=)
n.261T>A
c.444T>A (p.Ile148=)
c.297T>A (p.Ile99=)
c.264T>A (p.Ile88=)
c.516T>A (p.Ile172=)
6g.73641722A=CA1638222980SLC17A5c.494T= (p.Ile165=)
n.260T=
c.443T= (p.Ile148=)
c.296T= (p.Ile99=)
c.263T= (p.Ile88=)
c.515T= (p.Ile172=)
6g.73641722A>CCA364717918SLC17A5c.494T>G (p.Ile165Ser)
n.260T>G
c.443T>G (p.Ile148Ser)
c.296T>G (p.Ile99Ser)
c.263T>G (p.Ile88Ser)
c.515T>G (p.Ile172Ser)
6g.73641722A>GCA364717919SLC17A5c.494T>C (p.Ile165Thr)
n.260T>C
c.443T>C (p.Ile148Thr)
c.296T>C (p.Ile99Thr)
c.263T>C (p.Ile88Thr)
c.515T>C (p.Ile172Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73641722A>TCA3890528SLC17A5c.494T>A (p.Ile165Asn)
n.260T>A
c.443T>A (p.Ile148Asn)
c.296T>A (p.Ile99Asn)
c.263T>A (p.Ile88Asn)
c.515T>A (p.Ile172Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641723T>ACA364717921SLC17A5c.493A>T (p.Ile165Phe)
n.259A>T
c.442A>T (p.Ile148Phe)
c.295A>T (p.Ile99Phe)
c.262A>T (p.Ile88Phe)
c.514A>T (p.Ile172Phe)
6g.73641723T>CCA364717923SLC17A5c.493A>G (p.Ile165Val)
n.259A>G
c.442A>G (p.Ile148Val)
c.295A>G (p.Ile99Val)
c.262A>G (p.Ile88Val)
c.514A>G (p.Ile172Val)
6g.73641723T>GCA364717925SLC17A5c.493A>C (p.Ile165Leu)
n.259A>C
c.442A>C (p.Ile148Leu)
c.295A>C (p.Ile99Leu)
c.262A>C (p.Ile88Leu)
c.514A>C (p.Ile172Leu)
6g.73641724G>ACA450912091SLC17A5c.492C>T (p.Leu164=)
n.258C>T
c.441C>T (p.Leu147=)
c.294C>T (p.Leu98=)
c.261C>T (p.Leu87=)
c.513C>T (p.Leu171=)
 ClinVar dbSNP
6g.73641724G>CCA450912092SLC17A5c.492C>G (p.Leu164=)
n.258C>G
c.441C>G (p.Leu147=)
c.294C>G (p.Leu98=)
c.261C>G (p.Leu87=)
c.513C>G (p.Leu171=)
6g.73641724G>TCA450912093SLC17A5c.492C>A (p.Leu164=)
n.258C>A
c.441C>A (p.Leu147=)
c.294C>A (p.Leu98=)
c.261C>A (p.Leu87=)
c.513C>A (p.Leu171=)
6g.73641725A>CCA364717927SLC17A5c.491T>G (p.Leu164Arg)
n.257T>G
c.440T>G (p.Leu147Arg)
c.293T>G (p.Leu98Arg)
c.260T>G (p.Leu87Arg)
c.512T>G (p.Leu171Arg)
6g.73641725A>GCA364717928SLC17A5c.491T>C (p.Leu164Pro)
n.257T>C
c.440T>C (p.Leu147Pro)
c.293T>C (p.Leu98Pro)
c.260T>C (p.Leu87Pro)
c.512T>C (p.Leu171Pro)
6g.73641725A>TCA364717930SLC17A5c.491T>A (p.Leu164His)
n.257T>A
c.440T>A (p.Leu147His)
c.293T>A (p.Leu98His)
c.260T>A (p.Leu87His)
c.512T>A (p.Leu171His)
6g.73641726G>ACA364717934SLC17A5c.490C>T (p.Leu164Phe)
n.256C>T
c.439C>T (p.Leu147Phe)
c.292C>T (p.Leu98Phe)
c.259C>T (p.Leu87Phe)
c.511C>T (p.Leu171Phe)
 gnomAD v4
6g.73641726G>CCA364717936SLC17A5c.490C>G (p.Leu164Val)
n.256C>G
c.439C>G (p.Leu147Val)
c.292C>G (p.Leu98Val)
c.259C>G (p.Leu87Val)
c.511C>G (p.Leu171Val)
 gnomAD v4
6g.73641726G>TCA364717932SLC17A5c.490C>A (p.Leu164Ile)
n.256C>A
c.439C>A (p.Leu147Ile)
c.292C>A (p.Leu98Ile)
c.259C>A (p.Leu87Ile)
c.511C>A (p.Leu171Ile)
6g.73641727T>ACA450912095SLC17A5c.489A>T (p.Pro163=)
n.255A>T
c.438A>T (p.Pro146=)
c.291A>T (p.Pro97=)
c.258A>T (p.Pro86=)
c.510A>T (p.Pro170=)
6g.73641727T>CCA450912094SLC17A5c.489A>G (p.Pro163=)
n.255A>G
c.438A>G (p.Pro146=)
c.291A>G (p.Pro97=)
c.258A>G (p.Pro86=)
c.510A>G (p.Pro170=)
 ClinVar dbSNP
6g.73641727T>GCA450912096SLC17A5c.489A>C (p.Pro163=)
n.255A>C
c.438A>C (p.Pro146=)
c.291A>C (p.Pro97=)
c.258A>C (p.Pro86=)
c.510A>C (p.Pro170=)
6g.73641727T=CA1638222986SLC17A5c.489A= (p.Pro163=)
n.255A=
c.438A= (p.Pro146=)
c.291A= (p.Pro97=)
c.258A= (p.Pro86=)
c.510A= (p.Pro170=)
6g.73641728G>ACA364717939SLC17A5c.488C>T (p.Pro163Leu)
n.254C>T
c.437C>T (p.Pro146Leu)
c.290C>T (p.Pro97Leu)
c.257C>T (p.Pro86Leu)
c.509C>T (p.Pro170Leu)
6g.73641728G>CCA364717938SLC17A5c.488C>G (p.Pro163Arg)
n.254C>G
c.437C>G (p.Pro146Arg)
c.290C>G (p.Pro97Arg)
c.257C>G (p.Pro86Arg)
c.509C>G (p.Pro170Arg)
6g.73641728G>TCA364717941SLC17A5c.488C>A (p.Pro163Gln)
n.254C>A
c.437C>A (p.Pro146Gln)
c.290C>A (p.Pro97Gln)
c.257C>A (p.Pro86Gln)
c.509C>A (p.Pro170Gln)
6g.73641729G>ACA364717943SLC17A5c.487C>T (p.Pro163Ser)
n.253C>T
c.436C>T (p.Pro146Ser)
c.289C>T (p.Pro97Ser)
c.256C>T (p.Pro86Ser)
c.508C>T (p.Pro170Ser)
 COSMIC
6g.73641729G>CCA364717945SLC17A5c.487C>G (p.Pro163Ala)
n.253C>G
c.436C>G (p.Pro146Ala)
c.289C>G (p.Pro97Ala)
c.256C>G (p.Pro86Ala)
c.508C>G (p.Pro170Ala)
6g.73641729G>TCA364717947SLC17A5c.487C>A (p.Pro163Thr)
n.253C>A
c.436C>A (p.Pro146Thr)
c.289C>A (p.Pro97Thr)
c.256C>A (p.Pro86Thr)
c.508C>A (p.Pro170Thr)
6g.73641730T>ACA450912097SLC17A5c.486A>T (p.Gly162=)
n.252A>T
c.435A>T (p.Gly145=)
c.288A>T (p.Gly96=)
c.255A>T (p.Gly85=)
c.507A>T (p.Gly169=)
6g.73641730T>CCA450912098SLC17A5c.486A>G (p.Gly162=)
n.252A>G
c.435A>G (p.Gly145=)
c.288A>G (p.Gly96=)
c.255A>G (p.Gly85=)
c.507A>G (p.Gly169=)
6g.73641730T>GCA450912099SLC17A5c.486A>C (p.Gly162=)
n.252A>C
c.435A>C (p.Gly145=)
c.288A>C (p.Gly96=)
c.255A>C (p.Gly85=)
c.507A>C (p.Gly169=)
6g.73641730_73641731insGTATTTTGCTCTCTTGCA2580075791SLC17A5c.485_486insCAAGAGAGCAAAATAC (p.Pro163LysfsTer?)
n.251_252insCAAGAGAGCAAAATAC
c.434_435insCAAGAGAGCAAAATAC (p.Pro146LysfsTer?)
c.287_288insCAAGAGAGCAAAATAC (p.Pro97LysfsTer?)
c.254_255insCAAGAGAGCAAAATAC (p.Pro86LysfsTer?)
c.506_507insCAAGAGAGCAAAATAC (p.Pro170LysfsTer?)
 ClinVar
6g.73641731C>ACA364717949SLC17A5c.485G>T (p.Gly162Val)
n.251G>T
c.434G>T (p.Gly145Val)
c.287G>T (p.Gly96Val)
c.254G>T (p.Gly85Val)
c.506G>T (p.Gly169Val)
6g.73641731C>GCA364717951SLC17A5c.485G>C (p.Gly162Ala)
n.251G>C
c.434G>C (p.Gly145Ala)
c.287G>C (p.Gly96Ala)
c.254G>C (p.Gly85Ala)
c.506G>C (p.Gly169Ala)
6g.73641731C>TCA364717953SLC17A5c.485G>A (p.Gly162Glu)
n.251G>A
c.434G>A (p.Gly145Glu)
c.287G>A (p.Gly96Glu)
c.254G>A (p.Gly85Glu)
c.506G>A (p.Gly169Glu)
6g.73641732C>ACA364717955SLC17A5c.484G>T (p.Gly162Ter)
n.250G>T
c.433G>T (p.Gly145Ter)
c.286G>T (p.Gly96Ter)
c.253G>T (p.Gly85Ter)
c.505G>T (p.Gly169Ter)
6g.73641732C>GCA364717957SLC17A5c.484G>C (p.Gly162Arg)
n.250G>C
c.433G>C (p.Gly145Arg)
c.286G>C (p.Gly96Arg)
c.253G>C (p.Gly85Arg)
c.505G>C (p.Gly169Arg)
6g.73641732C>TCA364717959SLC17A5c.484G>A (p.Gly162Arg)
n.250G>A
c.433G>A (p.Gly145Arg)
c.286G>A (p.Gly96Arg)
c.253G>A (p.Gly85Arg)
c.505G>A (p.Gly169Arg)
6g.73641733A>CCA450912100SLC17A5c.483T>G (p.Val161=)
n.249T>G
c.432T>G (p.Val144=)
c.285T>G (p.Val95=)
c.252T>G (p.Val84=)
c.504T>G (p.Val168=)
 gnomAD v4
6g.73641733A>GCA450912101SLC17A5c.483T>C (p.Val161=)
n.249T>C
c.432T>C (p.Val144=)
c.285T>C (p.Val95=)
c.252T>C (p.Val84=)
c.504T>C (p.Val168=)
6g.73641733A>TCA450912102SLC17A5c.483T>A (p.Val161=)
n.249T>A
c.432T>A (p.Val144=)
c.285T>A (p.Val95=)
c.252T>A (p.Val84=)
c.504T>A (p.Val168=)
6g.73641734A=CA1638222989SLC17A5c.482T= (p.Val161=)
n.248T=
c.431T= (p.Val144=)
c.284T= (p.Val95=)
c.251T= (p.Val84=)
c.503T= (p.Val168=)
6g.73641734A>CCA364717961SLC17A5c.482T>G (p.Val161Gly)
n.248T>G
c.431T>G (p.Val144Gly)
c.284T>G (p.Val95Gly)
c.251T>G (p.Val84Gly)
c.503T>G (p.Val168Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.73641734A>GCA364717962SLC17A5c.482T>C (p.Val161Ala)
n.248T>C
c.431T>C (p.Val144Ala)
c.284T>C (p.Val95Ala)
c.251T>C (p.Val84Ala)
c.503T>C (p.Val168Ala)
6g.73641734A>TCA364717964SLC17A5c.482T>A (p.Val161Asp)
n.248T>A
c.431T>A (p.Val144Asp)
c.284T>A (p.Val95Asp)
c.251T>A (p.Val84Asp)
c.503T>A (p.Val168Asp)
6g.73641735C>ACA364717969SLC17A5c.481G>T (p.Val161Phe)
n.247G>T
c.430G>T (p.Val144Phe)
c.283G>T (p.Val95Phe)
c.250G>T (p.Val84Phe)
c.502G>T (p.Val168Phe)
6g.73641735C=CA1638222993SLC17A5c.481G= (p.Val161=)
n.247G=
c.430G= (p.Val144=)
c.283G= (p.Val95=)
c.250G= (p.Val84=)
c.502G= (p.Val168=)
6g.73641735C>GCA364717967SLC17A5c.481G>C (p.Val161Leu)
n.247G>C
c.430G>C (p.Val144Leu)
c.283G>C (p.Val95Leu)
c.250G>C (p.Val84Leu)
c.502G>C (p.Val168Leu)
 gnomAD v4
6g.73641735C>TCA3890529SLC17A5c.481G>A (p.Val161Ile)
n.247G>A
c.430G>A (p.Val144Ile)
c.283G>A (p.Val95Ile)
c.250G>A (p.Val84Ile)
c.502G>A (p.Val168Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.73641736T>ACA450912103SLC17A5c.480A>T (p.Gly160=)
n.246A>T
c.429A>T (p.Gly143=)
c.282A>T (p.Gly94=)
c.249A>T (p.Gly83=)
c.501A>T (p.Gly167=)
6g.73641736T>CCA450912104SLC17A5c.480A>G (p.Gly160=)
n.246A>G
c.429A>G (p.Gly143=)
c.282A>G (p.Gly94=)
c.249A>G (p.Gly83=)
c.501A>G (p.Gly167=)
 gnomAD v4
6g.73641736T>GCA450912105SLC17A5c.480A>C (p.Gly160=)
n.246A>C
c.429A>C (p.Gly143=)
c.282A>C (p.Gly94=)
c.249A>C (p.Gly83=)
c.501A>C (p.Gly167=)
6g.73641737C>ACA364717971SLC17A5c.479G>T (p.Gly160Val)
n.245G>T
c.428G>T (p.Gly143Val)
c.281G>T (p.Gly94Val)
c.248G>T (p.Gly83Val)
c.500G>T (p.Gly167Val)
6g.73641737C>GCA364717972SLC17A5c.479G>C (p.Gly160Ala)
n.245G>C
c.428G>C (p.Gly143Ala)
c.281G>C (p.Gly94Ala)
c.248G>C (p.Gly83Ala)
c.500G>C (p.Gly167Ala)
6g.73641737C>TCA364717973SLC17A5c.479G>A (p.Gly160Glu)
n.245G>A
c.428G>A (p.Gly143Glu)
c.281G>A (p.Gly94Glu)
c.248G>A (p.Gly83Glu)
c.500G>A (p.Gly167Glu)
6g.73641738delCA2580075793SLC17A5c.479del (p.Gly160GlufsTer11)
n.245del
c.428del (p.Gly143GlufsTer11)
c.281del (p.Gly94GlufsTer11)
c.248del (p.Gly83GlufsTer11)
c.500del (p.Gly167GlufsTer11)
 ClinVar
6g.73641738C>ACA364717974SLC17A5c.478G>T (p.Gly160Ter)
n.244G>T
c.427G>T (p.Gly143Ter)
c.280G>T (p.Gly94Ter)
c.247G>T (p.Gly83Ter)
c.499G>T (p.Gly167Ter)
6g.73641738C>GCA364717975SLC17A5c.478G>C (p.Gly160Arg)
n.244G>C
c.427G>C (p.Gly143Arg)
c.280G>C (p.Gly94Arg)
c.247G>C (p.Gly83Arg)
c.499G>C (p.Gly167Arg)
6g.73641738C>TCA364717976SLC17A5c.478G>A (p.Gly160Arg)
n.244G>A
c.427G>A (p.Gly143Arg)
c.280G>A (p.Gly94Arg)
c.247G>A (p.Gly83Arg)
c.499G>A (p.Gly167Arg)
6g.73641739T>ACA364717979SLC17A5c.477A>T (p.Leu159Phe)
n.243A>T
c.426A>T (p.Leu142Phe)
c.279A>T (p.Leu93Phe)
c.246A>T (p.Leu82Phe)
c.498A>T (p.Leu166Phe)
6g.73641739T>CCA450912106SLC17A5c.477A>G (p.Leu159=)
n.243A>G
c.426A>G (p.Leu142=)
c.279A>G (p.Leu93=)
c.246A>G (p.Leu82=)
c.498A>G (p.Leu166=)
6g.73641739T>GCA364717980SLC17A5c.477A>C (p.Leu159Phe)
n.243A>C
c.426A>C (p.Leu142Phe)
c.279A>C (p.Leu93Phe)
c.246A>C (p.Leu82Phe)
c.498A>C (p.Leu166Phe)
6g.73641740A>CCA364717984SLC17A5c.476T>G (p.Leu159Ter)
n.242T>G
c.425T>G (p.Leu142Ter)
c.278T>G (p.Leu93Ter)
c.245T>G (p.Leu82Ter)
c.497T>G (p.Leu166Ter)
 COSMIC
6g.73641740A>GCA364717985SLC17A5c.476T>C (p.Leu159Ser)
n.242T>C
c.425T>C (p.Leu142Ser)
c.278T>C (p.Leu93Ser)
c.245T>C (p.Leu82Ser)
c.497T>C (p.Leu166Ser)
6g.73641740A>TCA364717987SLC17A5c.476T>A (p.Leu159Ter)
n.242T>A
c.425T>A (p.Leu142Ter)
c.278T>A (p.Leu93Ter)
c.245T>A (p.Leu82Ter)
c.497T>A (p.Leu166Ter)
6g.73641741A>CCA364717990SLC17A5c.475T>G (p.Leu159Val)
n.241T>G
c.424T>G (p.Leu142Val)
c.277T>G (p.Leu93Val)
c.244T>G (p.Leu82Val)
c.496T>G (p.Leu166Val)
6g.73641741A>GCA450912107SLC17A5c.475T>C (p.Leu159=)
n.241T>C
c.424T>C (p.Leu142=)
c.277T>C (p.Leu93=)
c.244T>C (p.Leu82=)
c.496T>C (p.Leu166=)
6g.73641741A>TCA364717991SLC17A5c.475T>A (p.Leu159Ile)
n.241T>A
c.424T>A (p.Leu142Ile)
c.277T>A (p.Leu93Ile)
c.244T>A (p.Leu82Ile)
c.496T>A (p.Leu166Ile)
6g.73641742A>CCA364717993SLC17A5c.474T>G (p.Asp158Glu)
n.240T>G
c.423T>G (p.Asp141Glu)
c.276T>G (p.Asp92Glu)
c.243T>G (p.Asp81Glu)
c.495T>G (p.Asp165Glu)
6g.73641742A>GCA450912108SLC17A5c.474T>C (p.Asp158=)
n.240T>C
c.423T>C (p.Asp141=)
c.276T>C (p.Asp92=)
c.243T>C (p.Asp81=)
c.495T>C (p.Asp165=)
6g.73641742A>TCA364717995SLC17A5c.474T>A (p.Asp158Glu)
n.240T>A
c.423T>A (p.Asp141Glu)
c.276T>A (p.Asp92Glu)
c.243T>A (p.Asp81Glu)
c.495T>A (p.Asp165Glu)
6g.73641743T>ACA364717997SLC17A5c.473A>T (p.Asp158Val)
n.239A>T
c.422A>T (p.Asp141Val)
c.275A>T (p.Asp92Val)
c.242A>T (p.Asp81Val)
c.494A>T (p.Asp165Val)
6g.73641743T>CCA364717999SLC17A5c.473A>G (p.Asp158Gly)
n.239A>G
c.422A>G (p.Asp141Gly)
c.275A>G (p.Asp92Gly)
c.242A>G (p.Asp81Gly)
c.494A>G (p.Asp165Gly)
6g.73641743T>GCA364718001SLC17A5c.473A>C (p.Asp158Ala)
n.239A>C
c.422A>C (p.Asp141Ala)
c.275A>C (p.Asp92Ala)
c.242A>C (p.Asp81Ala)
c.494A>C (p.Asp165Ala)
6g.73641744C>ACA364718003SLC17A5c.472G>T (p.Asp158Tyr)
n.238G>T
c.421G>T (p.Asp141Tyr)
c.274G>T (p.Asp92Tyr)
c.241G>T (p.Asp81Tyr)
c.493G>T (p.Asp165Tyr)
6g.73641744C=CA1638222995SLC17A5c.472G= (p.Asp158=)
n.238G=
c.421G= (p.Asp141=)
c.274G= (p.Asp92=)
c.241G= (p.Asp81=)
c.493G= (p.Asp165=)
6g.73641744C>GCA364718005SLC17A5c.472G>C (p.Asp158His)
n.238G>C
c.421G>C (p.Asp141His)
c.274G>C (p.Asp92His)
c.241G>C (p.Asp81His)
c.493G>C (p.Asp165His)
 dbSNP gnomAD v2 gnomAD v4
6g.73641744C>TCA364718007SLC17A5c.472G>A (p.Asp158Asn)
n.238G>A
c.421G>A (p.Asp141Asn)
c.274G>A (p.Asp92Asn)
c.241G>A (p.Asp81Asn)
c.493G>A (p.Asp165Asn)
6g.73641745T>ACA450912109SLC17A5c.471A>T (p.Ala157=)
n.237A>T
c.420A>T (p.Ala140=)
c.273A>T (p.Ala91=)
c.240A>T (p.Ala80=)
c.492A>T (p.Ala164=)
6g.73641745T>CCA450912110SLC17A5c.471A>G (p.Ala157=)
n.237A>G
c.420A>G (p.Ala140=)
c.273A>G (p.Ala91=)
c.240A>G (p.Ala80=)
c.492A>G (p.Ala164=)
6g.73641745T>GCA450912111SLC17A5c.471A>C (p.Ala157=)
n.237A>C
c.420A>C (p.Ala140=)
c.273A>C (p.Ala91=)
c.240A>C (p.Ala80=)
c.492A>C (p.Ala164=)

Number of alleles fetched