Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.107245499T>CCA2679875422PDSS2c.702+49A>G (n.702+49A>G)
c.567+49A>G (n.567+49A>G)
c.294+49A>G (n.294+49A>G)
 gnomAD v4
6g.107245499_107245502delinsTACCCA1653773666PDSS2c.702+46_702+49delinsGGTA (n.702+46_702+49delinsGGTA)
c.567+46_567+49delinsGGTA (n.567+46_567+49delinsGGTA)
c.294+46_294+49delinsGGTA (n.294+46_294+49delinsGGTA)
6g.107245500A=CA1653773669PDSS2c.702+48T= (n.702+48T=)
c.567+48T= (n.567+48T=)
c.294+48T= (n.294+48T=)
6g.107245500A>GCA2679875423PDSS2c.702+48T>C (n.702+48T>C)
c.567+48T>C (n.567+48T>C)
c.294+48T>C (n.294+48T>C)
 gnomAD v4
6g.107245500A>TCA1653773670PDSS2c.702+48T>A (n.702+48T>A)
c.567+48T>A (n.567+48T>A)
c.294+48T>A (n.294+48T>A)
 dbSNP gnomAD v4
6g.107245502_107245504delCA3946037PDSS2c.702+46_702+48del (n.702+46_702+48del)
c.567+46_567+48del (n.567+46_567+48del)
c.294+46_294+48del (n.294+46_294+48del)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.107245501C>ACA1092900051PDSS2c.702+47G>T (n.702+47G>T)
c.567+47G>T (n.567+47G>T)
c.294+47G>T (n.294+47G>T)
 dbSNP gnomAD v3 gnomAD v4
6g.107245501C=CA1653773672PDSS2c.702+47G= (n.702+47G=)
c.567+47G= (n.567+47G=)
c.294+47G= (n.294+47G=)
6g.107245501C>GCA1653773675PDSS2c.702+47G>C (n.702+47G>C)
c.567+47G>C (n.567+47G>C)
c.294+47G>C (n.294+47G>C)
 dbSNP gnomAD v4
6g.107245501C>TCA2679875424PDSS2c.702+47G>A (n.702+47G>A)
c.567+47G>A (n.567+47G>A)
c.294+47G>A (n.294+47G>A)
 gnomAD v4
6g.107245502C>ACA2679875425PDSS2c.702+46G>T (n.702+46G>T)
c.567+46G>T (n.567+46G>T)
c.294+46G>T (n.294+46G>T)
 gnomAD v4
6g.107245502C>GCA2679875426PDSS2c.702+46G>C (n.702+46G>C)
c.567+46G>C (n.567+46G>C)
c.294+46G>C (n.294+46G>C)
 gnomAD v4
6g.107245502C>TCA2578825647PDSS2c.702+46G>A (n.702+46G>A)
c.567+46G>A (n.567+46G>A)
c.294+46G>A (n.294+46G>A)
 gnomAD v4
6g.107245503A=CA1653773678PDSS2c.702+45T= (n.702+45T=)
c.567+45T= (n.567+45T=)
c.294+45T= (n.294+45T=)
6g.107245503A>GCA2679875427PDSS2c.702+45T>C (n.702+45T>C)
c.567+45T>C (n.567+45T>C)
c.294+45T>C (n.294+45T>C)
 dbSNP gnomAD v4
6g.107245503A>TCA145601462PDSS2c.702+45T>A (n.702+45T>A)
c.567+45T>A (n.567+45T>A)
c.294+45T>A (n.294+45T>A)
 dbSNP gnomAD v4
6g.107245504C>ACA2679875428PDSS2c.702+44G>T (n.702+44G>T)
c.567+44G>T (n.567+44G>T)
c.294+44G>T (n.294+44G>T)
 gnomAD v4
6g.107245504C=CA1653773682PDSS2c.702+44G= (n.702+44G=)
c.567+44G= (n.567+44G=)
c.294+44G= (n.294+44G=)
6g.107245504C>GCA816881550PDSS2c.702+44G>C (n.702+44G>C)
c.567+44G>C (n.567+44G>C)
c.294+44G>C (n.294+44G>C)
 dbSNP gnomAD v3 gnomAD v4
6g.107245504C>TCA3946038PDSS2c.702+44G>A (n.702+44G>A)
c.567+44G>A (n.567+44G>A)
c.294+44G>A (n.294+44G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107245505G>ACA3946039PDSS2c.702+43C>T (n.702+43C>T)
c.567+43C>T (n.567+43C>T)
c.294+43C>T (n.294+43C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107245505G=CA1653773683PDSS2c.702+43C= (n.702+43C=)
c.567+43C= (n.567+43C=)
c.294+43C= (n.294+43C=)
6g.107245505G>TCA2679875429PDSS2c.702+43C>A (n.702+43C>A)
c.567+43C>A (n.567+43C>A)
c.294+43C>A (n.294+43C>A)
 gnomAD v4
6g.107245507C>ACA2679875430PDSS2c.702+41G>T (n.702+41G>T)
c.567+41G>T (n.567+41G>T)
c.294+41G>T (n.294+41G>T)
 gnomAD v4
6g.107245507C=CA1653773686PDSS2c.702+41G= (n.702+41G=)
c.567+41G= (n.567+41G=)
c.294+41G= (n.294+41G=)
6g.107245507C>TCA3946040PDSS2c.702+41G>A (n.702+41G>A)
c.567+41G>A (n.567+41G>A)
c.294+41G>A (n.294+41G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107245508G>ACA3946042PDSS2c.702+40C>T (n.702+40C>T)
c.567+40C>T (n.567+40C>T)
c.294+40C>T (n.294+40C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107245508G=CA1653773687PDSS2c.702+40C= (n.702+40C=)
c.567+40C= (n.567+40C=)
c.294+40C= (n.294+40C=)
6g.107245508G>TCA3946041PDSS2c.702+40C>A (n.702+40C>A)
c.567+40C>A (n.567+40C>A)
c.294+40C>A (n.294+40C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107245509G>ACA2679875431PDSS2c.702+39C>T (n.702+39C>T)
c.567+39C>T (n.567+39C>T)
c.294+39C>T (n.294+39C>T)
 gnomAD v4
6g.107245509G>TCA2578825648PDSS2c.702+39C>A (n.702+39C>A)
c.567+39C>A (n.567+39C>A)
c.294+39C>A (n.294+39C>A)
 gnomAD v4
6g.107245510T>CCA2679875432PDSS2c.702+38A>G (n.702+38A>G)
c.567+38A>G (n.567+38A>G)
c.294+38A>G (n.294+38A>G)
 gnomAD v4
6g.107245510T>GCA1653773689PDSS2c.702+38A>C (n.702+38A>C)
c.567+38A>C (n.567+38A>C)
c.294+38A>C (n.294+38A>C)
 dbSNP gnomAD v4
6g.107245510T=CA1653773688PDSS2c.702+38A= (n.702+38A=)
c.567+38A= (n.567+38A=)
c.294+38A= (n.294+38A=)
6g.107245511T>GCA1092900057PDSS2c.702+37A>C (n.702+37A>C)
c.567+37A>C (n.567+37A>C)
c.294+37A>C (n.294+37A>C)
 dbSNP gnomAD v3 gnomAD v4
6g.107245511T=CA1653773690PDSS2c.702+37A= (n.702+37A=)
c.567+37A= (n.567+37A=)
c.294+37A= (n.294+37A=)
6g.107245512T>GCA569507490PDSS2c.702+36A>C (n.702+36A>C)
c.567+36A>C (n.567+36A>C)
c.294+36A>C (n.294+36A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245512T=CA1653773692PDSS2c.702+36A= (n.702+36A=)
c.567+36A= (n.567+36A=)
c.294+36A= (n.294+36A=)
6g.107245520_107245524delCA2679875433PDSS2c.702+31_702+35del (n.702+31_702+35del)
c.567+31_567+35del (n.567+31_567+35del)
c.294+31_294+35del (n.294+31_294+35del)
 gnomAD v4
6g.107245514T>CCA145601463PDSS2c.702+34A>G (n.702+34A>G)
c.567+34A>G (n.567+34A>G)
c.294+34A>G (n.294+34A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245514T>GCA1653773697PDSS2c.702+34A>C (n.702+34A>C)
c.567+34A>C (n.567+34A>C)
c.294+34A>C (n.294+34A>C)
 dbSNP gnomAD v4
6g.107245514T=CA1653773695PDSS2c.702+34A= (n.702+34A=)
c.567+34A= (n.567+34A=)
c.294+34A= (n.294+34A=)
6g.107245515A=CA1653773699PDSS2c.702+33T= (n.702+33T=)
c.567+33T= (n.567+33T=)
c.294+33T= (n.294+33T=)
6g.107245515A>GCA569507491PDSS2c.702+33T>C (n.702+33T>C)
c.567+33T>C (n.567+33T>C)
c.294+33T>C (n.294+33T>C)
 dbSNP gnomAD v2 gnomAD v4
6g.107245515A>TCA3946043PDSS2c.702+33T>A (n.702+33T>A)
c.567+33T>A (n.567+33T>A)
c.294+33T>A (n.294+33T>A)
 dbSNP ExAC gnomAD v4
6g.107245516A=CA1653773700PDSS2c.702+32T= (n.702+32T=)
c.567+32T= (n.567+32T=)
c.294+32T= (n.294+32T=)
6g.107245516A>CCA569507492PDSS2c.702+32T>G (n.702+32T>G)
c.567+32T>G (n.567+32T>G)
c.294+32T>G (n.294+32T>G)
 dbSNP gnomAD v2 gnomAD v4
6g.107245517C>ACA2679875434PDSS2c.702+31G>T (n.702+31G>T)
c.567+31G>T (n.567+31G>T)
c.294+31G>T (n.294+31G>T)
 gnomAD v4
6g.107245517C=CA1653773702PDSS2c.702+31G= (n.702+31G=)
c.567+31G= (n.567+31G=)
c.294+31G= (n.294+31G=)
6g.107245517C>TCA816881563PDSS2c.702+31G>A (n.702+31G>A)
c.567+31G>A (n.567+31G>A)
c.294+31G>A (n.294+31G>A)
 dbSNP gnomAD v3 gnomAD v4
6g.107245518A>GCA2679875435PDSS2c.702+30T>C (n.702+30T>C)
c.567+30T>C (n.567+30T>C)
c.294+30T>C (n.294+30T>C)
 gnomAD v4
6g.107245519T>CCA2679875436PDSS2c.702+29A>G (n.702+29A>G)
c.567+29A>G (n.567+29A>G)
c.294+29A>G (n.294+29A>G)
 gnomAD v4
6g.107245520A=CA1653773705PDSS2c.702+28T= (n.702+28T=)
c.567+28T= (n.567+28T=)
c.294+28T= (n.294+28T=)
6g.107245520A>GCA3946044PDSS2c.702+28T>C (n.702+28T>C)
c.567+28T>C (n.567+28T>C)
c.294+28T>C (n.294+28T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107245521A>GCA2679875437PDSS2c.702+27T>C (n.702+27T>C)
c.567+27T>C (n.567+27T>C)
c.294+27T>C (n.294+27T>C)
 gnomAD v4
6g.107245522C>ACA2679875438PDSS2c.702+26G>T (n.702+26G>T)
c.567+26G>T (n.567+26G>T)
c.294+26G>T (n.294+26G>T)
 gnomAD v4
6g.107245522C>TCA2679875439PDSS2c.702+26G>A (n.702+26G>A)
c.567+26G>A (n.567+26G>A)
c.294+26G>A (n.294+26G>A)
 gnomAD v4
6g.107245523A=CA1653773706PDSS2c.702+25T= (n.702+25T=)
c.567+25T= (n.567+25T=)
c.294+25T= (n.294+25T=)
6g.107245523A>GCA1653773707PDSS2c.702+25T>C (n.702+25T>C)
c.567+25T>C (n.567+25T>C)
c.294+25T>C (n.294+25T>C)
 dbSNP gnomAD v4
6g.107245524T>CCA2679875440PDSS2c.702+24A>G (n.702+24A>G)
c.567+24A>G (n.567+24A>G)
c.294+24A>G (n.294+24A>G)
 gnomAD v4
6g.107245525T>CCA2679875441PDSS2c.702+23A>G (n.702+23A>G)
c.567+23A>G (n.567+23A>G)
c.294+23A>G (n.294+23A>G)
 gnomAD v4
6g.107245525T>GCA1653773710PDSS2c.702+23A>C (n.702+23A>C)
c.567+23A>C (n.567+23A>C)
c.294+23A>C (n.294+23A>C)
 dbSNP
6g.107245525T=CA1653773709PDSS2c.702+23A= (n.702+23A=)
c.567+23A= (n.567+23A=)
c.294+23A= (n.294+23A=)
6g.107245526T>ACA3946045PDSS2c.702+22A>T (n.702+22A>T)
c.567+22A>T (n.567+22A>T)
c.294+22A>T (n.294+22A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.107245526T=CA1653773711PDSS2c.702+22A= (n.702+22A=)
c.567+22A= (n.567+22A=)
c.294+22A= (n.294+22A=)
6g.107245527T>CCA145601464PDSS2c.702+21A>G (n.702+21A>G)
c.567+21A>G (n.567+21A>G)
c.294+21A>G (n.294+21A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245527T=CA1653773712PDSS2c.702+21A= (n.702+21A=)
c.567+21A= (n.567+21A=)
c.294+21A= (n.294+21A=)
6g.107245528A=CA1653773713PDSS2c.702+20T= (n.702+20T=)
c.567+20T= (n.567+20T=)
c.294+20T= (n.294+20T=)
6g.107245528A>CCA816881567PDSS2c.702+20T>G (n.702+20T>G)
c.567+20T>G (n.567+20T>G)
c.294+20T>G (n.294+20T>G)
 dbSNP gnomAD v3 gnomAD v4
6g.107245528A>GCA2679875442PDSS2c.702+20T>C (n.702+20T>C)
c.567+20T>C (n.567+20T>C)
c.294+20T>C (n.294+20T>C)
 gnomAD v4
6g.107245530G>TCA2578825649PDSS2c.702+18C>A (n.702+18C>A)
c.567+18C>A (n.567+18C>A)
c.294+18C>A (n.294+18C>A)
 gnomAD v4
6g.107245531A=CA1653773714PDSS2c.702+17T= (n.702+17T=)
c.567+17T= (n.567+17T=)
c.294+17T= (n.294+17T=)
6g.107245531A>GCA3946046PDSS2c.702+17T>C (n.702+17T>C)
c.567+17T>C (n.567+17T>C)
c.294+17T>C (n.294+17T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.107245532C>ACA2679875443PDSS2c.702+16G>T (n.702+16G>T)
c.567+16G>T (n.567+16G>T)
c.294+16G>T (n.294+16G>T)
 gnomAD v4
6g.107245532C=CA1653773715PDSS2c.702+16G= (n.702+16G=)
c.567+16G= (n.567+16G=)
c.294+16G= (n.294+16G=)
6g.107245532C>GCA3946048PDSS2c.702+16G>C (n.702+16G>C)
c.567+16G>C (n.567+16G>C)
c.294+16G>C (n.294+16G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.107245532C>TCA3946047PDSS2c.702+16G>A (n.702+16G>A)
c.567+16G>A (n.567+16G>A)
c.294+16G>A (n.294+16G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107245533T>CCA2679875444PDSS2c.702+15A>G (n.702+15A>G)
c.567+15A>G (n.567+15A>G)
c.294+15A>G (n.294+15A>G)
 gnomAD v4
6g.107245534C>ACA2679875445PDSS2c.702+14G>T (n.702+14G>T)
c.567+14G>T (n.567+14G>T)
c.294+14G>T (n.294+14G>T)
 gnomAD v4
6g.107245534C>GCA2679875446PDSS2c.702+14G>C (n.702+14G>C)
c.567+14G>C (n.567+14G>C)
c.294+14G>C (n.294+14G>C)
 gnomAD v4
6g.107245535T>CCA2679875447PDSS2c.702+13A>G (n.702+13A>G)
c.567+13A>G (n.567+13A>G)
c.294+13A>G (n.294+13A>G)
 gnomAD v4
6g.107245536G>ACA3946049PDSS2c.702+12C>T (n.702+12C>T)
c.567+12C>T (n.567+12C>T)
c.294+12C>T (n.294+12C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.107245536G=CA1653773716PDSS2c.702+12C= (n.702+12C=)
c.567+12C= (n.567+12C=)
c.294+12C= (n.294+12C=)
6g.107245536G>TCA2679875448PDSS2c.702+12C>A (n.702+12C>A)
c.567+12C>A (n.567+12C>A)
c.294+12C>A (n.294+12C>A)
 gnomAD v4
6g.107245537A>GCA2679875449PDSS2c.702+11T>C (n.702+11T>C)
c.567+11T>C (n.567+11T>C)
c.294+11T>C (n.294+11T>C)
 gnomAD v4
6g.107245538A>GCA2679875450PDSS2c.702+10T>C (n.702+10T>C)
c.567+10T>C (n.567+10T>C)
c.294+10T>C (n.294+10T>C)
 gnomAD v4
6g.107245539A=CA1653773717PDSS2c.702+9T= (n.702+9T=)
c.567+9T= (n.567+9T=)
c.294+9T= (n.294+9T=)
6g.107245539A>GCA145601465PDSS2c.702+9T>C (n.702+9T>C)
c.567+9T>C (n.567+9T>C)
c.294+9T>C (n.294+9T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245540T>CCA2679875451PDSS2c.702+8A>G (n.702+8A>G)
c.567+8A>G (n.567+8A>G)
c.294+8A>G (n.294+8A>G)
 gnomAD v4
6g.107245540_107245541delinsTCCA1653773719PDSS2c.702+7_702+8delinsGA (n.702+7_702+8delinsGA)
c.567+7_567+8delinsGA (n.567+7_567+8delinsGA)
c.294+7_294+8delinsGA (n.294+7_294+8delinsGA)
6g.107245541C>ACA2679875452PDSS2c.702+7G>T (n.702+7G>T)
c.567+7G>T (n.567+7G>T)
c.294+7G>T (n.294+7G>T)
 gnomAD v4
6g.107245541C>TCA2679875453PDSS2c.702+7G>A (n.702+7G>A)
c.567+7G>A (n.567+7G>A)
c.294+7G>A (n.294+7G>A)
 gnomAD v4
6g.107245542delCA1653773720PDSS2c.702+7del (n.702+7del)
c.567+7del (n.567+7del)
c.294+7del (n.294+7del)
 dbSNP
6g.107245542C>ACA2679875454PDSS2c.702+6G>T (n.702+6G>T)
c.567+6G>T (n.567+6G>T)
c.294+6G>T (n.294+6G>T)
 gnomAD v4
6g.107245542C=CA1653773721PDSS2c.702+6G= (n.702+6G=)
c.567+6G= (n.567+6G=)
c.294+6G= (n.294+6G=)
6g.107245542C>GCA1092900066PDSS2c.702+6G>C (n.702+6G>C)
c.567+6G>C (n.567+6G>C)
c.294+6G>C (n.294+6G>C)
 dbSNP gnomAD v3 gnomAD v4
6g.107245543T>ACA2679875455PDSS2c.702+5A>T (n.702+5A>T)
c.567+5A>T (n.567+5A>T)
c.294+5A>T (n.294+5A>T)
 gnomAD v4
6g.107245543T>CCA3946050PDSS2c.702+5A>G (n.702+5A>G)
c.567+5A>G (n.567+5A>G)
c.294+5A>G (n.294+5A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.107245543T=CA1653773723PDSS2c.702+5A= (n.702+5A=)
c.567+5A= (n.567+5A=)
c.294+5A= (n.294+5A=)
6g.107245544T>CCA2679875456PDSS2c.702+4A>G (n.702+4A>G)
c.567+4A>G (n.567+4A>G)
c.294+4A>G (n.294+4A>G)
 gnomAD v4
6g.107245545T>CCA2679875457PDSS2c.702+3A>G (n.702+3A>G)
c.567+3A>G (n.567+3A>G)
c.294+3A>G (n.294+3A>G)
 gnomAD v4
6g.107245546A>CCA365323010PDSS2c.702+2T>G (n.702+2T>G)
c.567+2T>G (n.567+2T>G)
c.294+2T>G (n.294+2T>G)
6g.107245546A>GCA365323011PDSS2c.702+2T>C (n.702+2T>C)
c.567+2T>C (n.567+2T>C)
c.294+2T>C (n.294+2T>C)
 gnomAD v4
6g.107245546A>TCA365323012PDSS2c.702+2T>A (n.702+2T>A)
c.567+2T>A (n.567+2T>A)
c.294+2T>A (n.294+2T>A)
 gnomAD v4
6g.107245547C>ACA365323015PDSS2c.702+1G>T (n.702+1G>T)
c.567+1G>T (n.567+1G>T)
c.294+1G>T (n.294+1G>T)
6g.107245547C=CA1653773724PDSS2c.702+1G= (n.702+1G=)
c.567+1G= (n.567+1G=)
c.294+1G= (n.294+1G=)
6g.107245547C>GCA365323013PDSS2c.702+1G>C (n.702+1G>C)
c.567+1G>C (n.567+1G>C)
c.294+1G>C (n.294+1G>C)
6g.107245547C>TCA365323014PDSS2c.702+1G>A (n.702+1G>A)
c.567+1G>A (n.567+1G>A)
c.294+1G>A (n.294+1G>A)
 dbSNP gnomAD v2 gnomAD v4
6g.107245548C>ACA365323016PDSS2c.702G>T (p.Lys234Asn)
c.567G>T (p.Lys189Asn)
c.294G>T (p.Lys98Asn)
 gnomAD v4
6g.107245548C>GCA365323017PDSS2c.702G>C (p.Lys234Asn)
c.567G>C (p.Lys189Asn)
c.294G>C (p.Lys98Asn)
6g.107245548C>TCA451564082PDSS2c.702G>A (p.Lys234=)
c.567G>A (p.Lys189=)
c.294G>A (p.Lys98=)
 gnomAD v4
6g.107245549T>ACA365323018PDSS2c.701A>T (p.Lys234Met)
c.566A>T (p.Lys189Met)
c.293A>T (p.Lys98Met)
6g.107245549T>CCA365323019PDSS2c.701A>G (p.Lys234Arg)
c.566A>G (p.Lys189Arg)
c.293A>G (p.Lys98Arg)
 gnomAD v4
6g.107245549T>GCA145601466PDSS2c.701A>C (p.Lys234Thr)
c.566A>C (p.Lys189Thr)
c.293A>C (p.Lys98Thr)
 dbSNP
6g.107245549T=CA1653773727PDSS2c.701A= (p.Lys234=)
c.566A= (p.Lys189=)
c.293A= (p.Lys98=)
6g.107245550T>ACA365323020PDSS2c.700A>T (p.Lys234Ter)
c.565A>T (p.Lys189Ter)
c.292A>T (p.Lys98Ter)
6g.107245550T>CCA324643PDSS2c.700A>G (p.Lys234Glu)
c.565A>G (p.Lys189Glu)
c.292A>G (p.Lys98Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245550T>GCA365323021PDSS2c.700A>C (p.Lys234Gln)
c.565A>C (p.Lys189Gln)
c.292A>C (p.Lys98Gln)
6g.107245550T=CA1653773730PDSS2c.700A= (p.Lys234=)
c.565A= (p.Lys189=)
c.292A= (p.Lys98=)
6g.107245551T>ACA451564096PDSS2c.699A>T (p.Ser233=)
c.564A>T (p.Ser188=)
c.291A>T (p.Ser97=)
6g.107245551T>CCA451564098PDSS2c.699A>G (p.Ser233=)
c.564A>G (p.Ser188=)
c.291A>G (p.Ser97=)
 gnomAD v4
6g.107245551T>GCA451564101PDSS2c.699A>C (p.Ser233=)
c.564A>C (p.Ser188=)
c.291A>C (p.Ser97=)
6g.107245551_107245552delCA2578825650PDSS2c.698_699del (p.Ser233Ter)
c.563_564del (p.Ser188Ter)
c.290_291del (p.Ser97Ter)
6g.107245552G>ACA365323022PDSS2c.698C>T (p.Ser233Leu)
c.563C>T (p.Ser188Leu)
c.290C>T (p.Ser97Leu)
6g.107245552G>CCA365323023PDSS2c.698C>G (p.Ser233Ter)
c.563C>G (p.Ser188Ter)
c.290C>G (p.Ser97Ter)
6g.107245552G>TCA365323024PDSS2c.698C>A (p.Ser233Ter)
c.563C>A (p.Ser188Ter)
c.290C>A (p.Ser97Ter)
 gnomAD v4
6g.107245553A>CCA365323025PDSS2c.697T>G (p.Ser233Ala)
c.562T>G (p.Ser188Ala)
c.289T>G (p.Ser97Ala)
6g.107245553A>GCA365323026PDSS2c.697T>C (p.Ser233Pro)
c.562T>C (p.Ser188Pro)
c.289T>C (p.Ser97Pro)
 gnomAD v4
6g.107245553A>TCA365323027PDSS2c.697T>A (p.Ser233Thr)
c.562T>A (p.Ser188Thr)
c.289T>A (p.Ser97Thr)
6g.107245554A=CA1653773734PDSS2c.696T= (p.Thr232=)
c.561T= (p.Thr187=)
c.288T= (p.Thr96=)
6g.107245554A>CCA451564116PDSS2c.696T>G (p.Thr232=)
c.561T>G (p.Thr187=)
c.288T>G (p.Thr96=)
6g.107245554A>GCA3946051PDSS2c.696T>C (p.Thr232=)
c.561T>C (p.Thr187=)
c.288T>C (p.Thr96=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.107245554A>TCA451564121PDSS2c.696T>A (p.Thr232=)
c.561T>A (p.Thr187=)
c.288T>A (p.Thr96=)
6g.107245555G>ACA365323028PDSS2c.695C>T (p.Thr232Ile)
c.560C>T (p.Thr187Ile)
c.287C>T (p.Thr96Ile)
 dbSNP
6g.107245555G>CCA365323029PDSS2c.695C>G (p.Thr232Ser)
c.560C>G (p.Thr187Ser)
c.287C>G (p.Thr96Ser)
6g.107245555G=CA1653773737PDSS2c.695C= (p.Thr232=)
c.560C= (p.Thr187=)
c.287C= (p.Thr96=)
6g.107245555G>TCA365323030PDSS2c.695C>A (p.Thr232Asn)
c.560C>A (p.Thr187Asn)
c.287C>A (p.Thr96Asn)
 gnomAD v4
6g.107245556T>ACA365323031PDSS2c.694A>T (p.Thr232Ser)
c.559A>T (p.Thr187Ser)
c.286A>T (p.Thr96Ser)
6g.107245556T>CCA365323032PDSS2c.694A>G (p.Thr232Ala)
c.559A>G (p.Thr187Ala)
c.286A>G (p.Thr96Ala)
 gnomAD v4
6g.107245556T>GCA365323033PDSS2c.694A>C (p.Thr232Pro)
c.559A>C (p.Thr187Pro)
c.286A>C (p.Thr96Pro)
6g.107245557A>CCA451564133PDSS2c.693T>G (p.Ser231=)
c.558T>G (p.Ser186=)
c.285T>G (p.Ser95=)
6g.107245557A>GCA451564137PDSS2c.693T>C (p.Ser231=)
c.558T>C (p.Ser186=)
c.285T>C (p.Ser95=)
 gnomAD v4
6g.107245557A>TCA451564135PDSS2c.693T>A (p.Ser231=)
c.558T>A (p.Ser186=)
c.285T>A (p.Ser95=)
6g.107245558G>ACA365323034PDSS2c.692C>T (p.Ser231Phe)
c.557C>T (p.Ser186Phe)
c.284C>T (p.Ser95Phe)
6g.107245558G>CCA365323036PDSS2c.692C>G (p.Ser231Cys)
c.557C>G (p.Ser186Cys)
c.284C>G (p.Ser95Cys)
6g.107245558G>TCA365323035PDSS2c.692C>A (p.Ser231Tyr)
c.557C>A (p.Ser186Tyr)
c.284C>A (p.Ser95Tyr)
 gnomAD v4 COSMIC
6g.107245559A>CCA365323037PDSS2c.691T>G (p.Ser231Ala)
c.556T>G (p.Ser186Ala)
c.283T>G (p.Ser95Ala)
6g.107245559A>GCA365323038PDSS2c.691T>C (p.Ser231Pro)
c.556T>C (p.Ser186Pro)
c.283T>C (p.Ser95Pro)
6g.107245559A>TCA365323039PDSS2c.691T>A (p.Ser231Thr)
c.556T>A (p.Ser186Thr)
c.283T>A (p.Ser95Thr)
6g.107245560A>CCA365323040PDSS2c.690T>G (p.Asn230Lys)
c.555T>G (p.Asn185Lys)
c.282T>G (p.Asn94Lys)
6g.107245560A>GCA451564155PDSS2c.690T>C (p.Asn230=)
c.555T>C (p.Asn185=)
c.282T>C (p.Asn94=)
 gnomAD v4
6g.107245560A>TCA365323041PDSS2c.690T>A (p.Asn230Lys)
c.555T>A (p.Asn185Lys)
c.282T>A (p.Asn94Lys)
6g.107245561T>ACA365323042PDSS2c.689A>T (p.Asn230Ile)
c.554A>T (p.Asn185Ile)
c.281A>T (p.Asn94Ile)
6g.107245561T>CCA365323043PDSS2c.689A>G (p.Asn230Ser)
c.554A>G (p.Asn185Ser)
c.281A>G (p.Asn94Ser)
6g.107245561T>GCA365323044PDSS2c.689A>C (p.Asn230Thr)
c.554A>C (p.Asn185Thr)
c.281A>C (p.Asn94Thr)
6g.107245562T>ACA365323045PDSS2c.688A>T (p.Asn230Tyr)
c.553A>T (p.Asn185Tyr)
c.280A>T (p.Asn94Tyr)
6g.107245562T>CCA365323046PDSS2c.688A>G (p.Asn230Asp)
c.553A>G (p.Asn185Asp)
c.280A>G (p.Asn94Asp)
6g.107245562T>GCA365323047PDSS2c.688A>C (p.Asn230His)
c.553A>C (p.Asn185His)
c.280A>C (p.Asn94His)
6g.107245563T>ACA365323049PDSS2c.687A>T (p.Glu229Asp)
c.552A>T (p.Glu184Asp)
c.279A>T (p.Glu93Asp)
6g.107245563T>CCA451564190PDSS2c.687A>G (p.Glu229=)
c.552A>G (p.Glu184=)
c.279A>G (p.Glu93=)
6g.107245563T>GCA365323048PDSS2c.687A>C (p.Glu229Asp)
c.552A>C (p.Glu184Asp)
c.279A>C (p.Glu93Asp)
6g.107245564T>ACA365323050PDSS2c.686A>T (p.Glu229Val)
c.551A>T (p.Glu184Val)
c.278A>T (p.Glu93Val)
6g.107245564T>CCA365323052PDSS2c.686A>G (p.Glu229Gly)
c.551A>G (p.Glu184Gly)
c.278A>G (p.Glu93Gly)
 dbSNP
6g.107245564T>GCA365323051PDSS2c.686A>C (p.Glu229Ala)
c.551A>C (p.Glu184Ala)
c.278A>C (p.Glu93Ala)
6g.107245564T=CA1653773739PDSS2c.686A= (p.Glu229=)
c.551A= (p.Glu184=)
c.278A= (p.Glu93=)
6g.107245565C>ACA365323053PDSS2c.685G>T (p.Glu229Ter)
c.550G>T (p.Glu184Ter)
c.277G>T (p.Glu93Ter)
 gnomAD v4
6g.107245565C>GCA365323054PDSS2c.685G>C (p.Glu229Gln)
c.550G>C (p.Glu184Gln)
c.277G>C (p.Glu93Gln)
6g.107245565C>TCA365323055PDSS2c.685G>A (p.Glu229Lys)
c.550G>A (p.Glu184Lys)
c.277G>A (p.Glu93Lys)
6g.107245566A>CCA365323056PDSS2c.684T>G (p.His228Gln)
c.549T>G (p.His183Gln)
c.276T>G (p.His92Gln)
6g.107245566A>GCA451564203PDSS2c.684T>C (p.His228=)
c.549T>C (p.His183=)
c.276T>C (p.His92=)
 gnomAD v4
6g.107245566A>TCA365323057PDSS2c.684T>A (p.His228Gln)
c.549T>A (p.His183Gln)
c.276T>A (p.His92Gln)
6g.107245567T>ACA365323058PDSS2c.683A>T (p.His228Leu)
c.548A>T (p.His183Leu)
c.275A>T (p.His92Leu)
6g.107245567T>CCA365323059PDSS2c.683A>G (p.His228Arg)
c.548A>G (p.His183Arg)
c.275A>G (p.His92Arg)
6g.107245567T>GCA365323060PDSS2c.683A>C (p.His228Pro)
c.548A>C (p.His183Pro)
c.275A>C (p.His92Pro)
6g.107245568G>ACA365323061PDSS2c.682C>T (p.His228Tyr)
c.547C>T (p.His183Tyr)
c.274C>T (p.His92Tyr)
6g.107245568G>CCA365323062PDSS2c.682C>G (p.His228Asp)
c.547C>G (p.His183Asp)
c.274C>G (p.His92Asp)
6g.107245568G>TCA365323063PDSS2c.682C>A (p.His228Asn)
c.547C>A (p.His183Asn)
c.274C>A (p.His92Asn)
 gnomAD v4
6g.107245569A>CCA365323064PDSS2c.681T>G (p.Tyr227Ter)
c.546T>G (p.Tyr182Ter)
c.273T>G (p.Tyr91Ter)
6g.107245569A>GCA451564217PDSS2c.681T>C (p.Tyr227=)
c.546T>C (p.Tyr182=)
c.273T>C (p.Tyr91=)
 gnomAD v4
6g.107245569A>TCA365323065PDSS2c.681T>A (p.Tyr227Ter)
c.546T>A (p.Tyr182Ter)
c.273T>A (p.Tyr91Ter)
 gnomAD v4
6g.107245570T>ACA365323066PDSS2c.680A>T (p.Tyr227Phe)
c.545A>T (p.Tyr182Phe)
c.272A>T (p.Tyr91Phe)
6g.107245570T>CCA365323068PDSS2c.680A>G (p.Tyr227Cys)
c.545A>G (p.Tyr182Cys)
c.272A>G (p.Tyr91Cys)
 gnomAD v4
6g.107245570T>GCA365323067PDSS2c.680A>C (p.Tyr227Ser)
c.545A>C (p.Tyr182Ser)
c.272A>C (p.Tyr91Ser)
6g.107245571A>CCA365323069PDSS2c.679T>G (p.Tyr227Asp)
c.544T>G (p.Tyr182Asp)
c.271T>G (p.Tyr91Asp)
6g.107245571A>GCA365323070PDSS2c.679T>C (p.Tyr227His)
c.544T>C (p.Tyr182His)
c.271T>C (p.Tyr91His)
 gnomAD v4
6g.107245571A>TCA365323071PDSS2c.679T>A (p.Tyr227Asn)
c.544T>A (p.Tyr182Asn)
c.271T>A (p.Tyr91Asn)
6g.107245572T>ACA451564224PDSS2c.678A>T (p.Val226=)
c.543A>T (p.Val181=)
c.270A>T (p.Val90=)
6g.107245572T>CCA3946052PDSS2c.678A>G (p.Val226=)
c.543A>G (p.Val181=)
c.270A>G (p.Val90=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107245572T>GCA451564228PDSS2c.678A>C (p.Val226=)
c.543A>C (p.Val181=)
c.270A>C (p.Val90=)
6g.107245572T=CA1653773744PDSS2c.678A= (p.Val226=)
c.543A= (p.Val181=)
c.270A= (p.Val90=)
6g.107245573A>CCA365323072PDSS2c.677T>G (p.Val226Gly)
c.542T>G (p.Val181Gly)
c.269T>G (p.Val90Gly)
6g.107245573A>GCA365323073PDSS2c.677T>C (p.Val226Ala)
c.542T>C (p.Val181Ala)
c.269T>C (p.Val90Ala)
6g.107245573A>TCA365323074PDSS2c.677T>A (p.Val226Glu)
c.542T>A (p.Val181Glu)
c.269T>A (p.Val90Glu)
 gnomAD v4
6g.107245574C>ACA365323075PDSS2c.676G>T (p.Val226Leu)
c.541G>T (p.Val181Leu)
c.268G>T (p.Val90Leu)
6g.107245574C=CA1653773749PDSS2c.676G= (p.Val226=)
c.541G= (p.Val181=)
c.268G= (p.Val90=)
6g.107245574C>GCA365323076PDSS2c.676G>C (p.Val226Leu)
c.541G>C (p.Val181Leu)
c.268G>C (p.Val90Leu)
6g.107245574C>TCA3946053PDSS2c.676G>A (p.Val226Ile)
c.541G>A (p.Val181Ile)
c.268G>A (p.Val90Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107245575T>ACA451564241PDSS2c.675A>T (p.Gly225=)
c.540A>T (p.Gly180=)
c.267A>T (p.Gly89=)
6g.107245575T>CCA451564243PDSS2c.675A>G (p.Gly225=)
c.540A>G (p.Gly180=)
c.267A>G (p.Gly89=)
 gnomAD v4
6g.107245575T>GCA451564246PDSS2c.675A>C (p.Gly225=)
c.540A>C (p.Gly180=)
c.267A>C (p.Gly89=)
6g.107245576C>ACA365323079PDSS2c.674G>T (p.Gly225Val)
c.539G>T (p.Gly180Val)
c.266G>T (p.Gly89Val)
6g.107245576C>GCA365323078PDSS2c.674G>C (p.Gly225Ala)
c.539G>C (p.Gly180Ala)
c.266G>C (p.Gly89Ala)
6g.107245576C>TCA365323077PDSS2c.674G>A (p.Gly225Glu)
c.539G>A (p.Gly180Glu)
c.266G>A (p.Gly89Glu)
6g.107245577C>ACA365323082PDSS2c.673G>T (p.Gly225Ter)
c.538G>T (p.Gly180Ter)
c.265G>T (p.Gly89Ter)
6g.107245577C>GCA365323080PDSS2c.673G>C (p.Gly225Arg)
c.538G>C (p.Gly180Arg)
c.265G>C (p.Gly89Arg)
 gnomAD v4
6g.107245577C>TCA365323081PDSS2c.673G>A (p.Gly225Arg)
c.538G>A (p.Gly180Arg)
c.265G>A (p.Gly89Arg)
6g.107245578T>ACA365323083PDSS2c.672A>T (p.Gln224His)
c.537A>T (p.Gln179His)
c.264A>T (p.Gln88His)
6g.107245578T>CCA3946054PDSS2c.672A>G (p.Gln224=)
c.537A>G (p.Gln179=)
c.264A>G (p.Gln88=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107245578T>GCA365323084PDSS2c.672A>C (p.Gln224His)
c.537A>C (p.Gln179His)
c.264A>C (p.Gln88His)
6g.107245578T=CA1653773751PDSS2c.672A= (p.Gln224=)
c.537A= (p.Gln179=)
c.264A= (p.Gln88=)
6g.107245579T>ACA365323087PDSS2c.671A>T (p.Gln224Leu)
c.536A>T (p.Gln179Leu)
c.263A>T (p.Gln88Leu)
6g.107245579T>CCA365323086PDSS2c.671A>G (p.Gln224Arg)
c.536A>G (p.Gln179Arg)
c.263A>G (p.Gln88Arg)
6g.107245579T>GCA365323085PDSS2c.671A>C (p.Gln224Pro)
c.536A>C (p.Gln179Pro)
c.263A>C (p.Gln88Pro)
6g.107245580G>ACA365323088PDSS2c.670C>T (p.Gln224Ter)
c.535C>T (p.Gln179Ter)
c.262C>T (p.Gln88Ter)
 gnomAD v4
6g.107245580G>CCA365323089PDSS2c.670C>G (p.Gln224Glu)
c.535C>G (p.Gln179Glu)
c.262C>G (p.Gln88Glu)
6g.107245580G>TCA365323090PDSS2c.670C>A (p.Gln224Lys)
c.535C>A (p.Gln179Lys)
c.262C>A (p.Gln88Lys)
 gnomAD v4
6g.107245581T>ACA451564265PDSS2c.669A>T (p.Val223=)
c.534A>T (p.Val178=)
c.261A>T (p.Val87=)
6g.107245581T>CCA451564266PDSS2c.669A>G (p.Val223=)
c.534A>G (p.Val178=)
c.261A>G (p.Val87=)
6g.107245581T>GCA451564268PDSS2c.669A>C (p.Val223=)
c.534A>C (p.Val178=)
c.261A>C (p.Val87=)
6g.107245582A=CA1653773752PDSS2c.668T= (p.Val223=)
c.533T= (p.Val178=)
c.260T= (p.Val87=)
6g.107245582A>CCA365323091PDSS2c.668T>G (p.Val223Gly)
c.533T>G (p.Val178Gly)
c.260T>G (p.Val87Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107245582A>GCA365323092PDSS2c.668T>C (p.Val223Ala)
c.533T>C (p.Val178Ala)
c.260T>C (p.Val87Ala)
6g.107245582A>TCA365323093PDSS2c.668T>A (p.Val223Glu)
c.533T>A (p.Val178Glu)
c.260T>A (p.Val87Glu)
6g.107245583C>ACA365323094PDSS2c.667G>T (p.Val223Leu)
c.532G>T (p.Val178Leu)
c.259G>T (p.Val87Leu)
 gnomAD v4
6g.107245583C=CA1653773757PDSS2c.667G= (p.Val223=)
c.532G= (p.Val178=)
c.259G= (p.Val87=)
6g.107245583C>GCA365323095PDSS2c.667G>C (p.Val223Leu)
c.532G>C (p.Val178Leu)
c.259G>C (p.Val87Leu)
 COSMIC
6g.107245583C>TCA321989PDSS2c.667G>A (p.Val223Ile)
c.532G>A (p.Val178Ile)
c.259G>A (p.Val87Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107245584C>ACA365323096PDSS2c.666G>T (p.Leu222Phe)
c.531G>T (p.Leu177Phe)
c.258G>T (p.Leu86Phe)
6g.107245584C>GCA365323097PDSS2c.666G>C (p.Leu222Phe)
c.531G>C (p.Leu177Phe)
c.258G>C (p.Leu86Phe)
6g.107245584C>TCA451564280PDSS2c.666G>A (p.Leu222=)
c.531G>A (p.Leu177=)
c.258G>A (p.Leu86=)
 gnomAD v4
6g.107245585A>CCA365323098PDSS2c.665T>G (p.Leu222Trp)
c.530T>G (p.Leu177Trp)
c.257T>G (p.Leu86Trp)
6g.107245585A>GCA365323099PDSS2c.665T>C (p.Leu222Ser)
c.530T>C (p.Leu177Ser)
c.257T>C (p.Leu86Ser)
 gnomAD v4
6g.107245585A>TCA365323100PDSS2c.665T>A (p.Leu222Ter)
c.530T>A (p.Leu177Ter)
c.257T>A (p.Leu86Ter)
6g.107245586A>CCA365323101PDSS2c.664T>G (p.Leu222Val)
c.529T>G (p.Leu177Val)
c.256T>G (p.Leu86Val)
6g.107245586A>GCA451564288PDSS2c.664T>C (p.Leu222=)
c.529T>C (p.Leu177=)
c.256T>C (p.Leu86=)
6g.107245586A>TCA365323102PDSS2c.664T>A (p.Leu222Met)
c.529T>A (p.Leu177Met)
c.256T>A (p.Leu86Met)
6g.107245587G>ACA451564294PDSS2c.663C>T (p.Asp221=)
c.528C>T (p.Asp176=)
c.255C>T (p.Asp85=)
 gnomAD v4
6g.107245587G>CCA365323103PDSS2c.663C>G (p.Asp221Glu)
c.528C>G (p.Asp176Glu)
c.255C>G (p.Asp85Glu)
 gnomAD v4
6g.107245587G>TCA365323104PDSS2c.663C>A (p.Asp221Glu)
c.528C>A (p.Asp176Glu)
c.255C>A (p.Asp85Glu)
 gnomAD v4
6g.107245588T>ACA365323105PDSS2c.662A>T (p.Asp221Val)
c.527A>T (p.Asp176Val)
c.254A>T (p.Asp85Val)
6g.107245588T>CCA365323106PDSS2c.662A>G (p.Asp221Gly)
c.527A>G (p.Asp176Gly)
c.254A>G (p.Asp85Gly)
 gnomAD v4
6g.107245588T>GCA365323107PDSS2c.662A>C (p.Asp221Ala)
c.527A>C (p.Asp176Ala)
c.254A>C (p.Asp85Ala)
6g.107245589C>ACA365323108PDSS2c.661G>T (p.Asp221Tyr)
c.526G>T (p.Asp176Tyr)
c.253G>T (p.Asp85Tyr)
6g.107245589C=CA1653773760PDSS2c.661G= (p.Asp221=)
c.526G= (p.Asp176=)
c.253G= (p.Asp85=)
6g.107245589C>GCA365323109PDSS2c.661G>C (p.Asp221His)
c.526G>C (p.Asp176His)
c.253G>C (p.Asp85His)
6g.107245589C>TCA3946055PDSS2c.661G>A (p.Asp221Asn)
c.526G>A (p.Asp176Asn)
c.253G>A (p.Asp85Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107245590C>ACA365323110PDSS2c.660G>T (p.Met220Ile)
c.525G>T (p.Met175Ile)
c.252G>T (p.Met84Ile)
6g.107245590C>GCA365323112PDSS2c.660G>C (p.Met220Ile)
c.525G>C (p.Met175Ile)
c.252G>C (p.Met84Ile)
6g.107245590C>TCA365323111PDSS2c.660G>A (p.Met220Ile)
c.525G>A (p.Met175Ile)
c.252G>A (p.Met84Ile)
 gnomAD v4
6g.107245591A=CA1653773762PDSS2c.659T= (p.Met220=)
c.524T= (p.Met175=)
c.251T= (p.Met84=)
6g.107245591A>CCA365323113PDSS2c.659T>G (p.Met220Arg)
c.524T>G (p.Met175Arg)
c.251T>G (p.Met84Arg)
6g.107245591A>GCA365323114PDSS2c.659T>C (p.Met220Thr)
c.524T>C (p.Met175Thr)
c.251T>C (p.Met84Thr)
 dbSNP gnomAD v4
6g.107245591A>TCA365323115PDSS2c.659T>A (p.Met220Lys)
c.524T>A (p.Met175Lys)
c.251T>A (p.Met84Lys)
 gnomAD v4
6g.107245592T>ACA365323116PDSS2c.658A>T (p.Met220Leu)
c.523A>T (p.Met175Leu)
c.250A>T (p.Met84Leu)
6g.107245592T>CCA365323117PDSS2c.658A>G (p.Met220Val)
c.523A>G (p.Met175Val)
c.250A>G (p.Met84Val)
6g.107245592T>GCA365323118PDSS2c.658A>C (p.Met220Leu)
c.523A>C (p.Met175Leu)
c.250A>C (p.Met84Leu)
6g.107245593A>CCA451564312PDSS2c.657T>G (p.Leu219=)
c.522T>G (p.Leu174=)
c.249T>G (p.Leu83=)
6g.107245593A>GCA451564315PDSS2c.657T>C (p.Leu219=)
c.522T>C (p.Leu174=)
c.249T>C (p.Leu83=)
 gnomAD v4
6g.107245593A>TCA451564317PDSS2c.657T>A (p.Leu219=)
c.522T>A (p.Leu174=)
c.249T>A (p.Leu83=)
6g.107245594A>CCA365323119PDSS2c.656T>G (p.Leu219Arg)
c.521T>G (p.Leu174Arg)
c.248T>G (p.Leu83Arg)
6g.107245594A>GCA365323120PDSS2c.656T>C (p.Leu219Pro)
c.521T>C (p.Leu174Pro)
c.248T>C (p.Leu83Pro)
 gnomAD v4
6g.107245594A>TCA365323121PDSS2c.656T>A (p.Leu219His)
c.521T>A (p.Leu174His)
c.248T>A (p.Leu83His)
6g.107245595G>ACA365323122PDSS2c.655C>T (p.Leu219Phe)
c.520C>T (p.Leu174Phe)
c.247C>T (p.Leu83Phe)
 gnomAD v4
6g.107245595G>CCA365323123PDSS2c.655C>G (p.Leu219Val)
c.520C>G (p.Leu174Val)
c.247C>G (p.Leu83Val)
 gnomAD v4
6g.107245595G>TCA365323124PDSS2c.655C>A (p.Leu219Ile)
c.520C>A (p.Leu174Ile)
c.247C>A (p.Leu83Ile)
6g.107245596A>CCA451564322PDSS2c.654T>G (p.Ala218=)
c.519T>G (p.Ala173=)
c.246T>G (p.Ala82=)
6g.107245596A>GCA451564324PDSS2c.654T>C (p.Ala218=)
c.519T>C (p.Ala173=)
c.246T>C (p.Ala82=)
 gnomAD v4
6g.107245596A>TCA451564325PDSS2c.654T>A (p.Ala218=)
c.519T>A (p.Ala173=)
c.246T>A (p.Ala82=)
6g.107245597G>ACA365323127PDSS2c.653C>T (p.Ala218Val)
c.518C>T (p.Ala173Val)
c.245C>T (p.Ala82Val)
 gnomAD v4
6g.107245597G>CCA365323125PDSS2c.653C>G (p.Ala218Gly)
c.518C>G (p.Ala173Gly)
c.245C>G (p.Ala82Gly)
6g.107245597G>TCA365323126PDSS2c.653C>A (p.Ala218Asp)
c.518C>A (p.Ala173Asp)
c.245C>A (p.Ala82Asp)
 gnomAD v4
6g.107245598C>ACA365323128PDSS2c.652G>T (p.Ala218Ser)
c.517G>T (p.Ala173Ser)
c.244G>T (p.Ala82Ser)
6g.107245598C=CA1653773765PDSS2c.652G= (p.Ala218=)
c.517G= (p.Ala173=)
c.244G= (p.Ala82=)
6g.107245598C>GCA365323129PDSS2c.652G>C (p.Ala218Pro)
c.517G>C (p.Ala173Pro)
c.244G>C (p.Ala82Pro)
6g.107245598C>TCA365323130PDSS2c.652G>A (p.Ala218Thr)
c.517G>A (p.Ala173Thr)
c.244G>A (p.Ala82Thr)
 dbSNP gnomAD v3 gnomAD v4
6g.107245599A>CCA365323131PDSS2c.651T>G (p.Ser217Arg)
c.516T>G (p.Ser172Arg)
c.243T>G (p.Ser81Arg)
6g.107245599A>GCA451564330PDSS2c.651T>C (p.Ser217=)
c.516T>C (p.Ser172=)
c.243T>C (p.Ser81=)
 gnomAD v4
6g.107245599A>TCA365323132PDSS2c.651T>A (p.Ser217Arg)
c.516T>A (p.Ser172Arg)
c.243T>A (p.Ser81Arg)

Number of alleles fetched