Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.33438744_33438813delCA2652477972SNTA1c.496+37_496+106del (n.496+37_496+106del)
n.729+37_729+106del
c.169+37_169+106del (n.169+37_169+106del)
gnomAD v4
20g.33438785G>ACA2514230442SNTA1c.496+56C>T (n.496+56C>T)
n.729+56C>T
c.169+56C>T (n.169+56C>T)
20g.33438785G>CCA2652478017SNTA1c.496+56C>G (n.496+56C>G)
n.729+56C>G
c.169+56C>G (n.169+56C>G)
gnomAD v4
20g.33438787A=CA2360753039SNTA1c.496+54T= (n.496+54T=)
n.729+54T=
c.169+54T= (n.169+54T=)
20g.33438787A>CCA2360753040SNTA1c.496+54T>G (n.496+54T>G)
n.729+54T>G
c.169+54T>G (n.169+54T>G)
dbSNP gnomAD v4
20g.33438788G>TCA2577372651SNTA1c.496+53C>A (n.496+53C>A)
n.729+53C>A
c.169+53C>A (n.169+53C>A)
gnomAD v4
20g.33438791G>TCA2577372652SNTA1c.496+50C>A (n.496+50C>A)
n.729+50C>A
c.169+50C>A (n.169+50C>A)
gnomAD v4
20g.33438792T>ACA2652478018SNTA1c.496+49A>T (n.496+49A>T)
n.729+49A>T
c.169+49A>T (n.169+49A>T)
gnomAD v4
20g.33438793G>TCA2652478019SNTA1c.496+48C>A (n.496+48C>A)
n.729+48C>A
c.169+48C>A (n.169+48C>A)
gnomAD v4
20g.33438794G>TCA2652478020SNTA1c.496+47C>A (n.496+47C>A)
n.729+47C>A
c.169+47C>A (n.169+47C>A)
gnomAD v4
20g.33438797C>TCA2652478021SNTA1c.496+44G>A (n.496+44G>A)
n.729+44G>A
c.169+44G>A (n.169+44G>A)
gnomAD v4
20g.33438798A=CA2360753041SNTA1c.496+43T= (n.496+43T=)
n.729+43T=
c.169+43T= (n.169+43T=)
20g.33438798A>CCA2360753042SNTA1c.496+43T>G (n.496+43T>G)
n.729+43T>G
c.169+43T>G (n.169+43T>G)
dbSNP
20g.33438799C>TCA2577372653SNTA1c.496+42G>A (n.496+42G>A)
n.729+42G>A
c.169+42G>A (n.169+42G>A)
gnomAD v4
20g.33438800C=CA2360753043SNTA1c.496+41G= (n.496+41G=)
n.729+41G=
c.169+41G= (n.169+41G=)
20g.33438800C>GCA9817216SNTA1c.496+41G>C (n.496+41G>C)
n.729+41G>C
c.169+41G>C (n.169+41G>C)
dbSNP ExAC gnomAD v3 gnomAD v4
20g.33438801T>GCA2577372654SNTA1c.496+40A>C (n.496+40A>C)
n.729+40A>C
c.169+40A>C (n.169+40A>C)
20g.33438802C>ACA2652478023SNTA1c.496+39G>T (n.496+39G>T)
n.729+39G>T
c.169+39G>T (n.169+39G>T)
gnomAD v4
20g.33438802C>TCA2652478022SNTA1c.496+39G>A (n.496+39G>A)
n.729+39G>A
c.169+39G>A (n.169+39G>A)
gnomAD v4
20g.33438803C=CA2360753044SNTA1c.496+38G= (n.496+38G=)
n.729+38G=
c.169+38G= (n.169+38G=)
20g.33438803C>TCA9817217SNTA1c.496+38G>A (n.496+38G>A)
n.729+38G>A
c.169+38G>A (n.169+38G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.33438805C>TCA2652478024SNTA1c.496+36G>A (n.496+36G>A)
n.729+36G>A
c.169+36G>A (n.169+36G>A)
gnomAD v4
20g.33438806C>TCA2652478025SNTA1c.496+35G>A (n.496+35G>A)
n.729+35G>A
c.169+35G>A (n.169+35G>A)
gnomAD v4
20g.33438807C=CA2360753045SNTA1c.496+34G= (n.496+34G=)
n.729+34G=
c.169+34G= (n.169+34G=)
20g.33438807C>TCA743727023SNTA1c.496+34G>A (n.496+34G>A)
n.729+34G>A
c.169+34G>A (n.169+34G>A)
dbSNP gnomAD v3 gnomAD v4
20g.33438808A>TCA2652478026SNTA1c.496+33T>A (n.496+33T>A)
n.729+33T>A
c.169+33T>A (n.169+33T>A)
gnomAD v4
20g.33438809G>ACA2652478027SNTA1c.496+32C>T (n.496+32C>T)
n.729+32C>T
c.169+32C>T (n.169+32C>T)
gnomAD v4
20g.33438809G>TCA2652478028SNTA1c.496+32C>A (n.496+32C>A)
n.729+32C>A
c.169+32C>A (n.169+32C>A)
gnomAD v4
20g.33438810C>ACA635719739SNTA1c.496+31G>T (n.496+31G>T)
n.729+31G>T
c.169+31G>T (n.169+31G>T)
dbSNP gnomAD v2 gnomAD v4
20g.33438810C=CA2360753046SNTA1c.496+31G= (n.496+31G=)
n.729+31G=
c.169+31G= (n.169+31G=)
20g.33438810C>TCA2652478029SNTA1c.496+31G>A (n.496+31G>A)
n.729+31G>A
c.169+31G>A (n.169+31G>A)
gnomAD v4
20g.33438811C>ACA2360753048SNTA1c.496+30G>T (n.496+30G>T)
n.729+30G>T
c.169+30G>T (n.169+30G>T)
dbSNP gnomAD v4
20g.33438811C=CA2360753047SNTA1c.496+30G= (n.496+30G=)
n.729+30G=
c.169+30G= (n.169+30G=)
20g.33438812C>TCA2652478030SNTA1c.496+29G>A (n.496+29G>A)
n.729+29G>A
c.169+29G>A (n.169+29G>A)
gnomAD v4
20g.33438813C>GCA2652478031SNTA1c.496+28G>C (n.496+28G>C)
n.729+28G>C
c.169+28G>C (n.169+28G>C)
gnomAD v4
20g.33438814T>CCA2652478032SNTA1c.496+27A>G (n.496+27A>G)
n.729+27A>G
c.169+27A>G (n.169+27A>G)
gnomAD v4
20g.33438816T>CCA2652478033SNTA1c.496+25A>G (n.496+25A>G)
n.729+25A>G
c.169+25A>G (n.169+25A>G)
gnomAD v4
20g.33438819A>GCA2577372655SNTA1c.496+22T>C (n.496+22T>C)
n.729+22T>C
c.169+22T>C (n.169+22T>C)
20g.33438820C=CA2360753049SNTA1c.496+21G= (n.496+21G=)
n.729+21G=
c.169+21G= (n.169+21G=)
20g.33438820C>TCA313275579SNTA1c.496+21G>A (n.496+21G>A)
n.729+21G>A
c.169+21G>A (n.169+21G>A)
dbSNP gnomAD v4
20g.33438821C>ACA635719740SNTA1c.496+20G>T (n.496+20G>T)
n.729+20G>T
c.169+20G>T (n.169+20G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.33438821C=CA2360753050SNTA1c.496+20G= (n.496+20G=)
n.729+20G=
c.169+20G= (n.169+20G=)
20g.33438821C>GCA2577372656SNTA1c.496+20G>C (n.496+20G>C)
n.729+20G>C
c.169+20G>C (n.169+20G>C)
20g.33438822C>GCA2816180426SNTA1c.496+19G>C (n.496+19G>C)
n.729+19G>C
c.169+19G>C (n.169+19G>C)
20g.33438823T>GCA2652478034SNTA1c.496+18A>C (n.496+18A>C)
n.729+18A>C
c.169+18A>C (n.169+18A>C)
gnomAD v4
20g.33438824G>ACA9817218SNTA1c.496+17C>T (n.496+17C>T)
n.729+17C>T
c.169+17C>T (n.169+17C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33438824G=CA2360753051SNTA1c.496+17C= (n.496+17C=)
n.729+17C=
c.169+17C= (n.169+17C=)
20g.33438824G>TCA2577372657SNTA1c.496+17C>A (n.496+17C>A)
n.729+17C>A
c.169+17C>A (n.169+17C>A)
20g.33438825G>ACA2652478035SNTA1c.496+16C>T (n.496+16C>T)
n.729+16C>T
c.169+16C>T (n.169+16C>T)
gnomAD v4
20g.33438825G>TCA2652478036SNTA1c.496+16C>A (n.496+16C>A)
n.729+16C>A
c.169+16C>A (n.169+16C>A)
gnomAD v4
20g.33438826A>GCA2652478037SNTA1c.496+15T>C (n.496+15T>C)
n.729+15T>C
c.169+15T>C (n.169+15T>C)
gnomAD v4
20g.33438828C>ACA743727044SNTA1c.496+13G>T (n.496+13G>T)
n.729+13G>T
c.169+13G>T (n.169+13G>T)
dbSNP gnomAD v3 gnomAD v4
20g.33438828C=CA2360753052SNTA1c.496+13G= (n.496+13G=)
n.729+13G=
c.169+13G= (n.169+13G=)
20g.33438828C>TCA9817219SNTA1c.496+13G>A (n.496+13G>A)
n.729+13G>A
c.169+13G>A (n.169+13G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
20g.33438829G>ACA9817220SNTA1c.496+12C>T (n.496+12C>T)
n.729+12C>T
c.169+12C>T (n.169+12C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33438829G=CA2360753053SNTA1c.496+12C= (n.496+12C=)
n.729+12C=
c.169+12C= (n.169+12C=)
20g.33438834T>CCA2360753055SNTA1c.496+7A>G (n.496+7A>G)
n.729+7A>G
c.169+7A>G (n.169+7A>G)
ClinVar dbSNP
20g.33438834T=CA2360753054SNTA1c.496+7A= (n.496+7A=)
n.729+7A=
c.169+7A= (n.169+7A=)
20g.33438835G>ACA2577372658SNTA1c.496+6C>T (n.496+6C>T)
n.729+6C>T
c.169+6C>T (n.169+6C>T)
gnomAD v4
20g.33438836C>ACA2652478038SNTA1c.496+5G>T (n.496+5G>T)
n.729+5G>T
c.169+5G>T (n.169+5G>T)
gnomAD v4
20g.33438838T>CCA9817221SNTA1c.496+3A>G (n.496+3A>G)
n.729+3A>G
c.169+3A>G (n.169+3A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.33438838T=CA2360753056SNTA1c.496+3A= (n.496+3A=)
n.729+3A=
c.169+3A= (n.169+3A=)
20g.33438839A=CA2360753057SNTA1c.496+2T= (n.496+2T=)
n.729+2T=
c.169+2T= (n.169+2T=)
20g.33438839A>CCA408633283SNTA1c.496+2T>G (n.496+2T>G)
n.729+2T>G
c.169+2T>G (n.169+2T>G)
dbSNP
20g.33438839A>GCA408633284SNTA1c.496+2T>C (n.496+2T>C)
n.729+2T>C
c.169+2T>C (n.169+2T>C)
20g.33438839A>TCA408633285SNTA1c.496+2T>A (n.496+2T>A)
n.729+2T>A
c.169+2T>A (n.169+2T>A)
20g.33438840C>ACA408633286SNTA1c.496+1G>T (n.496+1G>T)
n.729+1G>T
c.169+1G>T (n.169+1G>T)
20g.33438840C>GCA408633287SNTA1c.496+1G>C (n.496+1G>C)
n.729+1G>C
c.169+1G>C (n.169+1G>C)
20g.33438840C>TCA408633288SNTA1c.496+1G>A (n.496+1G>A)
n.729+1G>A
c.169+1G>A (n.169+1G>A)
20g.33438841C>ACA9817222SNTA1c.496G>T (p.Val166Phe)
n.729G>T
c.169G>T (p.Val57Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.33438841C=CA2360753058SNTA1c.496G= (p.Val166=)
n.729G=
c.169G= (p.Val57=)
20g.33438841C>GCA408633289SNTA1c.496G>C (p.Val166Leu)
n.729G>C
c.169G>C (p.Val57Leu)
20g.33438841C>TCA408633290SNTA1c.496G>A (p.Val166Ile)
n.729G>A
c.169G>A (p.Val57Ile)
20g.33438842C>ACA408633291SNTA1c.495G>T (p.Glu165Asp)
n.728G>T
c.168G>T (p.Glu56Asp)
20g.33438842C>GCA408633292SNTA1c.495G>C (p.Glu165Asp)
n.728G>C
c.168G>C (p.Glu56Asp)
20g.33438842C>TCA510252140SNTA1c.495G>A (p.Glu165=)
n.728G>A
c.168G>A (p.Glu56=)
gnomAD v4
20g.33438843T>ACA408633295SNTA1c.494A>T (p.Glu165Val)
n.727A>T
c.167A>T (p.Glu56Val)
20g.33438843T>CCA408633294SNTA1c.494A>G (p.Glu165Gly)
n.727A>G
c.167A>G (p.Glu56Gly)
20g.33438843T>GCA408633293SNTA1c.494A>C (p.Glu165Ala)
n.727A>C
c.167A>C (p.Glu56Ala)
20g.33438844C>ACA408633296SNTA1c.493G>T (p.Glu165Ter)
n.726G>T
c.166G>T (p.Glu56Ter)
20g.33438844C>GCA408633297SNTA1c.493G>C (p.Glu165Gln)
n.726G>C
c.166G>C (p.Glu56Gln)
20g.33438844C>TCA408633298SNTA1c.493G>A (p.Glu165Lys)
n.726G>A
c.166G>A (p.Glu56Lys)
20g.33438847_33438945delCA2652478039SNTA1c.395_493del (p.Gly132_Leu164del)
n.628_726del
c.68_166del (p.Gly23_Leu55del)
gnomAD v4
20g.33438845C>ACA510252144SNTA1c.492G>T (p.Leu164=)
n.725G>T
c.165G>T (p.Leu55=)
20g.33438845C=CA2360753059SNTA1c.492G= (p.Leu164=)
n.725G=
c.165G= (p.Leu55=)
20g.33438845C>GCA510252146SNTA1c.492G>C (p.Leu164=)
n.725G>C
c.165G>C (p.Leu55=)
20g.33438845C>TCA313275601SNTA1c.492G>A (p.Leu164=)
n.725G>A
c.165G>A (p.Leu55=)
dbSNP gnomAD v4
20g.33438846A>CCA408633299SNTA1c.491T>G (p.Leu164Arg)
n.724T>G
c.164T>G (p.Leu55Arg)
20g.33438846A>GCA408633300SNTA1c.491T>C (p.Leu164Pro)
n.724T>C
c.164T>C (p.Leu55Pro)
20g.33438846A>TCA408633301SNTA1c.491T>A (p.Leu164Gln)
n.724T>A
c.164T>A (p.Leu55Gln)
20g.33438847G>ACA510252147SNTA1c.490C>T (p.Leu164=)
n.723C>T
c.163C>T (p.Leu55=)
20g.33438847G>CCA408633302SNTA1c.490C>G (p.Leu164Val)
n.723C>G
c.163C>G (p.Leu55Val)
20g.33438847G>TCA408633303SNTA1c.490C>A (p.Leu164Met)
n.723C>A
c.163C>A (p.Leu55Met)
20g.33438848C>ACA510252148SNTA1c.489G>T (p.Val163=)
n.722G>T
c.162G>T (p.Val54=)
20g.33438848C>GCA510252149SNTA1c.489G>C (p.Val163=)
n.722G>C
c.162G>C (p.Val54=)
20g.33438848C>TCA510252150SNTA1c.489G>A (p.Val163=)
n.722G>A
c.162G>A (p.Val54=)
gnomAD v4
20g.33438849A>CCA408633304SNTA1c.488T>G (p.Val163Gly)
n.721T>G
c.161T>G (p.Val54Gly)
20g.33438849A>GCA408633305SNTA1c.488T>C (p.Val163Ala)
n.721T>C
c.161T>C (p.Val54Ala)
20g.33438849A>TCA408633306SNTA1c.488T>A (p.Val163Glu)
n.721T>A
c.161T>A (p.Val54Glu)
20g.33438850C>ACA408633308SNTA1c.487G>T (p.Val163Leu)
n.720G>T
c.160G>T (p.Val54Leu)
20g.33438850C>GCA408633309SNTA1c.487G>C (p.Val163Leu)
n.720G>C
c.160G>C (p.Val54Leu)
20g.33438850C>TCA408633307SNTA1c.487G>A (p.Val163Met)
n.720G>A
c.160G>A (p.Val54Met)
20g.33438851C>ACA510252152SNTA1c.486G>T (p.Val162=)
n.719G>T
c.159G>T (p.Val53=)
20g.33438851C>GCA510252153SNTA1c.486G>C (p.Val162=)
n.719G>C
c.159G>C (p.Val53=)
20g.33438851C>TCA510252154SNTA1c.486G>A (p.Val162=)
n.719G>A
c.159G>A (p.Val53=)
20g.33438852A=CA2360753060SNTA1c.485T= (p.Val162=)
n.718T=
c.158T= (p.Val53=)
20g.33438852A>CCA408633310SNTA1c.485T>G (p.Val162Gly)
n.718T>G
c.158T>G (p.Val53Gly)
dbSNP
20g.33438852A>GCA408633311SNTA1c.485T>C (p.Val162Ala)
n.718T>C
c.158T>C (p.Val53Ala)
20g.33438852A>TCA408633312SNTA1c.485T>A (p.Val162Glu)
n.718T>A
c.158T>A (p.Val53Glu)
20g.33438853C>ACA408633313SNTA1c.484G>T (p.Val162Leu)
n.717G>T
c.157G>T (p.Val53Leu)
gnomAD v4
20g.33438853C=CA2360753061SNTA1c.484G= (p.Val162=)
n.717G=
c.157G= (p.Val53=)
20g.33438853C>GCA408633314SNTA1c.484G>C (p.Val162Leu)
n.717G>C
c.157G>C (p.Val53Leu)
20g.33438853C>TCA408633315SNTA1c.484G>A (p.Val162Met)
n.717G>A
c.157G>A (p.Val53Met)
dbSNP gnomAD v2 gnomAD v4
20g.33438854C>ACA408633316SNTA1c.483G>T (p.Glu161Asp)
n.716G>T
c.156G>T (p.Glu52Asp)
gnomAD v4
20g.33438854C>GCA408633317SNTA1c.483G>C (p.Glu161Asp)
n.716G>C
c.156G>C (p.Glu52Asp)
20g.33438854C>TCA510252156SNTA1c.483G>A (p.Glu161=)
n.716G>A
c.156G>A (p.Glu52=)
gnomAD v4
20g.33438855T>ACA408633318SNTA1c.482A>T (p.Glu161Val)
n.715A>T
c.155A>T (p.Glu52Val)
20g.33438855T>CCA408633319SNTA1c.482A>G (p.Glu161Gly)
n.715A>G
c.155A>G (p.Glu52Gly)
20g.33438855T>GCA408633320SNTA1c.482A>C (p.Glu161Ala)
n.715A>C
c.155A>C (p.Glu52Ala)
20g.33438856C>ACA408633321SNTA1c.481G>T (p.Glu161Ter)
n.714G>T
c.154G>T (p.Glu52Ter)
20g.33438856C>GCA408633322SNTA1c.481G>C (p.Glu161Gln)
n.714G>C
c.154G>C (p.Glu52Gln)
20g.33438856C>TCA408633323SNTA1c.481G>A (p.Glu161Lys)
n.714G>A
c.154G>A (p.Glu52Lys)
20g.33438857C>ACA408633324SNTA1c.480G>T (p.Lys160Asn)
n.713G>T
c.153G>T (p.Lys51Asn)
20g.33438857C=CA2360753062SNTA1c.480G= (p.Lys160=)
n.713G=
c.153G= (p.Lys51=)
20g.33438857C>GCA408633325SNTA1c.480G>C (p.Lys160Asn)
n.713G>C
c.153G>C (p.Lys51Asn)
20g.33438857C>TCA510252160SNTA1c.480G>A (p.Lys160=)
n.713G>A
c.153G>A (p.Lys51=)
dbSNP gnomAD v2 gnomAD v4
20g.33438858T>ACA408633326SNTA1c.479A>T (p.Lys160Met)
n.712A>T
c.152A>T (p.Lys51Met)
20g.33438858T>CCA408633327SNTA1c.479A>G (p.Lys160Arg)
n.712A>G
c.152A>G (p.Lys51Arg)
20g.33438858T>GCA408633328SNTA1c.479A>C (p.Lys160Thr)
n.712A>C
c.152A>C (p.Lys51Thr)
20g.33438859T>ACA408633329SNTA1c.478A>T (p.Lys160Ter)
n.711A>T
c.151A>T (p.Lys51Ter)
20g.33438859T>CCA313275606SNTA1c.478A>G (p.Lys160Glu)
n.711A>G
c.151A>G (p.Lys51Glu)
dbSNP gnomAD v3 gnomAD v4
20g.33438859T>GCA408633330SNTA1c.478A>C (p.Lys160Gln)
n.711A>C
c.151A>C (p.Lys51Gln)
20g.33438859T=CA2360753063SNTA1c.478A= (p.Lys160=)
n.711A=
c.151A= (p.Lys51=)
20g.33438860G>ACA510252163SNTA1c.477C>T (p.Gly159=)
n.710C>T
c.150C>T (p.Gly50=)
20g.33438860G>CCA510252164SNTA1c.477C>G (p.Gly159=)
n.710C>G
c.150C>G (p.Gly50=)
20g.33438860G=CA2360753064SNTA1c.477C= (p.Gly159=)
n.710C=
c.150C= (p.Gly50=)
20g.33438860G>TCA510252165SNTA1c.477C>A (p.Gly159=)
n.710C>A
c.150C>A (p.Gly50=)
dbSNP gnomAD v2 gnomAD v4
20g.33438861C>ACA408633331SNTA1c.476G>T (p.Gly159Val)
n.709G>T
c.149G>T (p.Gly50Val)
dbSNP gnomAD v2
20g.33438861C=CA2360753065SNTA1c.476G= (p.Gly159=)
n.709G=
c.149G= (p.Gly50=)
20g.33438861C>GCA408633332SNTA1c.476G>C (p.Gly159Ala)
n.709G>C
c.149G>C (p.Gly50Ala)
gnomAD v4
20g.33438861C>TCA408633333SNTA1c.476G>A (p.Gly159Asp)
n.709G>A
c.149G>A (p.Gly50Asp)
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.33438862C>ACA408633334SNTA1c.475G>T (p.Gly159Cys)
n.708G>T
c.148G>T (p.Gly50Cys)
20g.33438862C>GCA408633335SNTA1c.475G>C (p.Gly159Arg)
n.708G>C
c.148G>C (p.Gly50Arg)
20g.33438862C>TCA408633336SNTA1c.475G>A (p.Gly159Ser)
n.708G>A
c.148G>A (p.Gly50Ser)
20g.33438863T>ACA510252168SNTA1c.474A>T (p.Thr158=)
n.707A>T
c.147A>T (p.Thr49=)
20g.33438863T>CCA510252169SNTA1c.474A>G (p.Thr158=)
n.707A>G
c.147A>G (p.Thr49=)
20g.33438863T>GCA510252170SNTA1c.474A>C (p.Thr158=)
n.707A>C
c.147A>C (p.Thr49=)
gnomAD v4
20g.33438864G>ACA313275610SNTA1c.473C>T (p.Thr158Ile)
n.706C>T
c.146C>T (p.Thr49Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.33438864G>CCA408633338SNTA1c.473C>G (p.Thr158Arg)
n.706C>G
c.146C>G (p.Thr49Arg)
20g.33438864G=CA2360753066SNTA1c.473C= (p.Thr158=)
n.706C=
c.146C= (p.Thr49=)
20g.33438864G>TCA408633337SNTA1c.473C>A (p.Thr158Lys)
n.706C>A
c.146C>A (p.Thr49Lys)
20g.33438865T>ACA408633339SNTA1c.472A>T (p.Thr158Ser)
n.705A>T
c.145A>T (p.Thr49Ser)
20g.33438865T>CCA408633341SNTA1c.472A>G (p.Thr158Ala)
n.705A>G
c.145A>G (p.Thr49Ala)
20g.33438865T>GCA408633340SNTA1c.472A>C (p.Thr158Pro)
n.705A>C
c.145A>C (p.Thr49Pro)
20g.33438866C>ACA408633342SNTA1c.471G>T (p.Lys157Asn)
n.704G>T
c.144G>T (p.Lys48Asn)
20g.33438866C>GCA408633343SNTA1c.471G>C (p.Lys157Asn)
n.704G>C
c.144G>C (p.Lys48Asn)
20g.33438866C>TCA510252172SNTA1c.471G>A (p.Lys157=)
n.704G>A
c.144G>A (p.Lys48=)
20g.33438867T>ACA9817223SNTA1c.470A>T (p.Lys157Met)
n.703A>T
c.143A>T (p.Lys48Met)
dbSNP ExAC gnomAD v2 gnomAD v4
20g.33438867T>CCA408633344SNTA1c.470A>G (p.Lys157Arg)
n.703A>G
c.143A>G (p.Lys48Arg)
20g.33438867T>GCA408633345SNTA1c.470A>C (p.Lys157Thr)
n.703A>C
c.143A>C (p.Lys48Thr)
20g.33438867T=CA2360753067SNTA1c.470A= (p.Lys157=)
n.703A=
c.143A= (p.Lys48=)
20g.33438868T>ACA408633346SNTA1c.469A>T (p.Lys157Ter)
n.702A>T
c.142A>T (p.Lys48Ter)
20g.33438868T>CCA408633347SNTA1c.469A>G (p.Lys157Glu)
n.702A>G
c.142A>G (p.Lys48Glu)
dbSNP gnomAD v4
20g.33438868T>GCA408633348SNTA1c.469A>C (p.Lys157Gln)
n.702A>C
c.142A>C (p.Lys48Gln)
20g.33438868T=CA2360753068SNTA1c.469A= (p.Lys157=)
n.702A=
c.142A= (p.Lys48=)
20g.33438869C>ACA408633349SNTA1c.468G>T (p.Lys156Asn)
n.701G>T
c.141G>T (p.Lys47Asn)
20g.33438869C>GCA408633350SNTA1c.468G>C (p.Lys156Asn)
n.701G>C
c.141G>C (p.Lys47Asn)
20g.33438869C>TCA510252175SNTA1c.468G>A (p.Lys156=)
n.701G>A
c.141G>A (p.Lys47=)
20g.33438870T>ACA408633351SNTA1c.467A>T (p.Lys156Met)
n.700A>T
c.140A>T (p.Lys47Met)
20g.33438870T>CCA9817224SNTA1c.467A>G (p.Lys156Arg)
n.700A>G
c.140A>G (p.Lys47Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33438870T>GCA408633352SNTA1c.467A>C (p.Lys156Thr)
n.700A>C
c.140A>C (p.Lys47Thr)
20g.33438870T=CA2360753069SNTA1c.467A= (p.Lys156=)
n.700A=
c.140A= (p.Lys47=)
20g.33438871T>ACA408633355SNTA1c.466A>T (p.Lys156Ter)
n.699A>T
c.139A>T (p.Lys47Ter)
20g.33438871T>CCA408633353SNTA1c.466A>G (p.Lys156Glu)
n.699A>G
c.139A>G (p.Lys47Glu)
20g.33438871T>GCA408633354SNTA1c.466A>C (p.Lys156Gln)
n.699A>C
c.139A>C (p.Lys47Gln)
20g.33438872G>ACA510252178SNTA1c.465C>T (p.Leu155=)
n.698C>T
c.138C>T (p.Leu46=)
20g.33438872G>CCA510252179SNTA1c.465C>G (p.Leu155=)
n.698C>G
c.138C>G (p.Leu46=)
20g.33438872G>TCA510252180SNTA1c.465C>A (p.Leu155=)
n.698C>A
c.138C>A (p.Leu46=)
20g.33438873A>CCA408633356SNTA1c.464T>G (p.Leu155Arg)
n.697T>G
c.137T>G (p.Leu46Arg)
20g.33438873A>GCA408633357SNTA1c.464T>C (p.Leu155Pro)
n.697T>C
c.137T>C (p.Leu46Pro)
20g.33438873A>TCA408633358SNTA1c.464T>A (p.Leu155His)
n.697T>A
c.137T>A (p.Leu46His)
gnomAD v4 COSMIC
20g.33438874G>ACA408633359SNTA1c.463C>T (p.Leu155Phe)
n.696C>T
c.136C>T (p.Leu46Phe)
20g.33438874G>CCA408633360SNTA1c.463C>G (p.Leu155Val)
n.696C>G
c.136C>G (p.Leu46Val)
20g.33438874G>TCA408633361SNTA1c.463C>A (p.Leu155Ile)
n.696C>A
c.136C>A (p.Leu46Ile)
20g.33438875G>ACA510252184SNTA1c.462C>T (p.Val154=)
n.695C>T
c.135C>T (p.Val45=)
20g.33438875G>CCA510252185SNTA1c.462C>G (p.Val154=)
n.695C>G
c.135C>G (p.Val45=)
20g.33438875G>TCA510252183SNTA1c.462C>A (p.Val154=)
n.695C>A
c.135C>A (p.Val45=)
20g.33438876A=CA2360753070SNTA1c.461T= (p.Val154=)
n.694T=
c.134T= (p.Val45=)
20g.33438876A>CCA408633362SNTA1c.461T>G (p.Val154Gly)
n.694T>G
c.134T>G (p.Val45Gly)
dbSNP
20g.33438876A>GCA408633363SNTA1c.461T>C (p.Val154Ala)
n.694T>C
c.134T>C (p.Val45Ala)
20g.33438876A>TCA408633364SNTA1c.461T>A (p.Val154Asp)
n.694T>A
c.134T>A (p.Val45Asp)
20g.33438877C>ACA408633365SNTA1c.460G>T (p.Val154Phe)
n.693G>T
c.133G>T (p.Val45Phe)
gnomAD v4
20g.33438877C=CA2360753071SNTA1c.460G= (p.Val154=)
n.693G=
c.133G= (p.Val45=)
20g.33438877C>GCA408633366SNTA1c.460G>C (p.Val154Leu)
n.693G>C
c.133G>C (p.Val45Leu)
20g.33438877C>TCA236846SNTA1c.460G>A (p.Val154Ile)
n.693G>A
c.133G>A (p.Val45Ile)
ClinVar dbSNP gnomAD v4
20g.33438878C>ACA408633367SNTA1c.459G>T (p.Gln153His)
n.692G>T
c.132G>T (p.Gln44His)
ClinVar dbSNP gnomAD v3 gnomAD v4
20g.33438878C=CA2360753072SNTA1c.459G= (p.Gln153=)
n.692G=
c.132G= (p.Gln44=)
20g.33438878C>GCA408633368SNTA1c.459G>C (p.Gln153His)
n.692G>C
c.132G>C (p.Gln44His)
20g.33438878C>TCA510252187SNTA1c.459G>A (p.Gln153=)
n.692G>A
c.132G>A (p.Gln44=)
dbSNP
20g.33438879T>ACA408633369SNTA1c.458A>T (p.Gln153Leu)
n.691A>T
c.131A>T (p.Gln44Leu)
20g.33438879T>CCA408633370SNTA1c.458A>G (p.Gln153Arg)
n.691A>G
c.131A>G (p.Gln44Arg)
20g.33438879T>GCA408633371SNTA1c.458A>C (p.Gln153Pro)
n.691A>C
c.131A>C (p.Gln44Pro)
dbSNP
20g.33438879T=CA2360753073SNTA1c.458A= (p.Gln153=)
n.691A=
c.131A= (p.Gln44=)
20g.33438880G>ACA408633372SNTA1c.457C>T (p.Gln153Ter)
n.690C>T
c.130C>T (p.Gln44Ter)
20g.33438880G>CCA408633373SNTA1c.457C>G (p.Gln153Glu)
n.690C>G
c.130C>G (p.Gln44Glu)
20g.33438880G>TCA408633374SNTA1c.457C>A (p.Gln153Lys)
n.690C>A
c.130C>A (p.Gln44Lys)
20g.33438881C>ACA510252188SNTA1c.456G>T (p.Val152=)
n.689G>T
c.129G>T (p.Val43=)
20g.33438881C=CA2360753074SNTA1c.456G= (p.Val152=)
n.689G=
c.129G= (p.Val43=)
20g.33438881C>GCA510252190SNTA1c.456G>C (p.Val152=)
n.689G>C
c.129G>C (p.Val43=)
20g.33438881C>TCA510252189SNTA1c.456G>A (p.Val152=)
n.689G>A
c.129G>A (p.Val43=)
ClinVar dbSNP gnomAD v4
20g.33438882A=CA2360753075SNTA1c.455T= (p.Val152=)
n.688T=
c.128T= (p.Val43=)
20g.33438882A>CCA408633377SNTA1c.455T>G (p.Val152Gly)
n.688T>G
c.128T>G (p.Val43Gly)
dbSNP
20g.33438882A>GCA408633376SNTA1c.455T>C (p.Val152Ala)
n.688T>C
c.128T>C (p.Val43Ala)
20g.33438882A>TCA408633375SNTA1c.455T>A (p.Val152Glu)
n.688T>A
c.128T>A (p.Val43Glu)
20g.33438883C>ACA408633378SNTA1c.454G>T (p.Val152Leu)
n.687G>T
c.127G>T (p.Val43Leu)
20g.33438883C>GCA408633379SNTA1c.454G>C (p.Val152Leu)
n.687G>C
c.127G>C (p.Val43Leu)
20g.33438883C>TCA408633380SNTA1c.454G>A (p.Val152Met)
n.687G>A
c.127G>A (p.Val43Met)
ClinVar
20g.33438884C>ACA510252191SNTA1c.453G>T (p.Ala151=)
n.686G>T
c.126G>T (p.Ala42=)
20g.33438884C=CA2360753076SNTA1c.453G= (p.Ala151=)
n.686G=
c.126G= (p.Ala42=)
20g.33438884C>GCA510252192SNTA1c.453G>C (p.Ala151=)
n.686G>C
c.126G>C (p.Ala42=)
20g.33438884C>TCA313275623SNTA1c.453G>A (p.Ala151=)
n.686G>A
c.126G>A (p.Ala42=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.33438885G>ACA354880SNTA1c.452C>T (p.Ala151Val)
n.685C>T
c.125C>T (p.Ala42Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.33438885G>CCA408633381SNTA1c.452C>G (p.Ala151Gly)
n.685C>G
c.125C>G (p.Ala42Gly)
20g.33438885G=CA2360753077SNTA1c.452C= (p.Ala151=)
n.685C=
c.125C= (p.Ala42=)
20g.33438885G>TCA408633382SNTA1c.452C>A (p.Ala151Glu)
n.685C>A
c.125C>A (p.Ala42Glu)

Number of alleles fetched