Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51806282G>ACA384880253SCN8Ac.4796G>A (p.Gly1599Glu)
c.2860G>A
c.4673G>A (p.Gly1558Glu)
c.4829G>A (p.Gly1610Glu)
12g.51806282G>CCA384880255SCN8Ac.4796G>C (p.Gly1599Ala)
c.2860G>C
c.4673G>C (p.Gly1558Ala)
c.4829G>C (p.Gly1610Ala)
12g.51806282G>TCA384880254SCN8Ac.4796G>T (p.Gly1599Val)
c.2860G>T
c.4673G>T (p.Gly1558Val)
c.4829G>T (p.Gly1610Val)
 gnomAD v4
12g.51806283A>CCA479787987SCN8Ac.4797A>C (p.Gly1599=)
c.2861A>C
c.4674A>C (p.Gly1558=)
c.4830A>C (p.Gly1610=)
12g.51806283A>GCA479787988SCN8Ac.4797A>G (p.Gly1599=)
c.2861A>G
c.4674A>G (p.Gly1558=)
c.4830A>G (p.Gly1610=)
12g.51806283A>TCA479787989SCN8Ac.4797A>T (p.Gly1599=)
c.2861A>T
c.4674A>T (p.Gly1558=)
c.4830A>T (p.Gly1610=)
12g.51806284A=CA2036192673SCN8Ac.4798A= (p.Met1600=)
c.2862A=
c.4675A= (p.Met1559=)
c.4831A= (p.Met1611=)
12g.51806284A>CCA384880256SCN8Ac.4798A>C (p.Met1600Leu)
c.2862A>C
c.4675A>C (p.Met1559Leu)
c.4831A>C (p.Met1611Leu)
12g.51806284A>GCA318286SCN8Ac.4798A>G (p.Met1600Val)
c.2862A>G
c.4675A>G (p.Met1559Val)
c.4831A>G (p.Met1611Val)
 ClinVar dbSNP
12g.51806284A>TCA384880257SCN8Ac.4798A>T (p.Met1600Leu)
c.2862A>T
c.4675A>T (p.Met1559Leu)
c.4831A>T (p.Met1611Leu)
12g.51806285T>ACA384880258SCN8Ac.4799T>A (p.Met1600Lys)
c.2863T>A
c.4676T>A (p.Met1559Lys)
c.4832T>A (p.Met1611Lys)
12g.51806285T>CCA384880259SCN8Ac.4799T>C (p.Met1600Thr)
c.2863T>C
c.4676T>C (p.Met1559Thr)
c.4832T>C (p.Met1611Thr)
12g.51806285T>GCA384880260SCN8Ac.4799T>G (p.Met1600Arg)
c.2863T>G
c.4676T>G (p.Met1559Arg)
c.4832T>G (p.Met1611Arg)
12g.51806286G>ACA384880261SCN8Ac.4800G>A (p.Met1600Ile)
c.2864G>A
c.4677G>A (p.Met1559Ile)
c.4833G>A (p.Met1611Ile)
 ClinVar dbSNP
12g.51806286G>CCA384880262SCN8Ac.4800G>C (p.Met1600Ile)
c.2864G>C
c.4677G>C (p.Met1559Ile)
c.4833G>C (p.Met1611Ile)
12g.51806286G=CA2036192686SCN8Ac.4800G= (p.Met1600=)
c.2864G=
c.4677G= (p.Met1559=)
c.4833G= (p.Met1611=)
12g.51806286G>TCA384880263SCN8Ac.4800G>T (p.Met1600Ile)
c.2864G>T
c.4677G>T (p.Met1559Ile)
c.4833G>T (p.Met1611Ile)
12g.51806287T>ACA384880264SCN8Ac.4801T>A (p.Phe1601Ile)
c.2865T>A
c.4678T>A (p.Phe1560Ile)
c.4834T>A (p.Phe1612Ile)
12g.51806287T>CCA384880265SCN8Ac.4801T>C (p.Phe1601Leu)
c.2865T>C
c.4678T>C (p.Phe1560Leu)
c.4834T>C (p.Phe1612Leu)
12g.51806287T>GCA384880266SCN8Ac.4801T>G (p.Phe1601Val)
c.2865T>G
c.4678T>G (p.Phe1560Val)
c.4834T>G (p.Phe1612Val)
12g.51806288T>ACA384880267SCN8Ac.4802T>A (p.Phe1601Tyr)
c.2866T>A
c.4679T>A (p.Phe1560Tyr)
c.4835T>A (p.Phe1612Tyr)
12g.51806288T>CCA384880268SCN8Ac.4802T>C (p.Phe1601Ser)
c.2866T>C
c.4679T>C (p.Phe1560Ser)
c.4835T>C (p.Phe1612Ser)
12g.51806288T>GCA384880269SCN8Ac.4802T>G (p.Phe1601Cys)
c.2866T>G
c.4679T>G (p.Phe1560Cys)
c.4835T>G (p.Phe1612Cys)
12g.51806289C>ACA384880271SCN8Ac.4803C>A (p.Phe1601Leu)
c.2867C>A
c.4680C>A (p.Phe1560Leu)
c.4836C>A (p.Phe1612Leu)
12g.51806289C>GCA384880270SCN8Ac.4803C>G (p.Phe1601Leu)
c.2867C>G
c.4680C>G (p.Phe1560Leu)
c.4836C>G (p.Phe1612Leu)
12g.51806289C>TCA479787990SCN8Ac.4803C>T (p.Phe1601=)
c.2867C>T
c.4680C>T (p.Phe1560=)
c.4836C>T (p.Phe1612=)
12g.51806290C>ACA384880272SCN8Ac.4804C>A (p.Leu1602Met)
c.2868C>A
c.4681C>A (p.Leu1561Met)
c.4837C>A (p.Leu1613Met)
12g.51806290C>GCA384880273SCN8Ac.4804C>G (p.Leu1602Val)
c.2868C>G
c.4681C>G (p.Leu1561Val)
c.4837C>G (p.Leu1613Val)
12g.51806290C>TCA479787991SCN8Ac.4804C>T (p.Leu1602=)
c.2868C>T
c.4681C>T (p.Leu1561=)
c.4837C>T (p.Leu1613=)
12g.51806291T>ACA384880274SCN8Ac.4805T>A (p.Leu1602Gln)
c.2869T>A
c.4682T>A (p.Leu1561Gln)
c.4838T>A (p.Leu1613Gln)
12g.51806291T>CCA384880275SCN8Ac.4805T>C (p.Leu1602Pro)
c.2869T>C
c.4682T>C (p.Leu1561Pro)
c.4838T>C (p.Leu1613Pro)
12g.51806291T>GCA384880276SCN8Ac.4805T>G (p.Leu1602Arg)
c.2869T>G
c.4682T>G (p.Leu1561Arg)
c.4838T>G (p.Leu1613Arg)
12g.51806292G>ACA6571872SCN8Ac.4806G>A (p.Leu1602=)
c.2870G>A
c.4683G>A (p.Leu1561=)
c.4839G>A (p.Leu1613=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806292G>CCA479787992SCN8Ac.4806G>C (p.Leu1602=)
c.2870G>C
c.4683G>C (p.Leu1561=)
c.4839G>C (p.Leu1613=)
12g.51806292G=CA2036192691SCN8Ac.4806G= (p.Leu1602=)
c.2870G=
c.4683G= (p.Leu1561=)
c.4839G= (p.Leu1613=)
12g.51806292G>TCA479787993SCN8Ac.4806G>T (p.Leu1602=)
c.2870G>T
c.4683G>T (p.Leu1561=)
c.4839G>T (p.Leu1613=)
12g.51806293G>ACA384880277SCN8Ac.4807G>A (p.Ala1603Thr)
c.2871G>A
c.4684G>A (p.Ala1562Thr)
c.4840G>A (p.Ala1614Thr)
12g.51806293G>CCA384880278SCN8Ac.4807G>C (p.Ala1603Pro)
c.2871G>C
c.4684G>C (p.Ala1562Pro)
c.4840G>C (p.Ala1614Pro)
12g.51806293G>TCA384880279SCN8Ac.4807G>T (p.Ala1603Ser)
c.2871G>T
c.4684G>T (p.Ala1562Ser)
c.4840G>T (p.Ala1614Ser)
12g.51806294C>ACA384880280SCN8Ac.4808C>A (p.Ala1603Glu)
c.2872C>A
c.4685C>A (p.Ala1562Glu)
c.4841C>A (p.Ala1614Glu)
 gnomAD v4
12g.51806294C>GCA384880281SCN8Ac.4808C>G (p.Ala1603Gly)
c.2872C>G
c.4685C>G (p.Ala1562Gly)
c.4841C>G (p.Ala1614Gly)
12g.51806294C>TCA384880282SCN8Ac.4808C>T (p.Ala1603Val)
c.2872C>T
c.4685C>T (p.Ala1562Val)
c.4841C>T (p.Ala1614Val)
 gnomAD v4
12g.51806295A>CCA479787994SCN8Ac.4809A>C (p.Ala1603=)
c.2873A>C
c.4686A>C (p.Ala1562=)
c.4842A>C (p.Ala1614=)
12g.51806295A>GCA479787995SCN8Ac.4809A>G (p.Ala1603=)
c.2873A>G
c.4686A>G (p.Ala1562=)
c.4842A>G (p.Ala1614=)
 COSMIC COSMIC
12g.51806295A>TCA479787996SCN8Ac.4809A>T (p.Ala1603=)
c.2873A>T
c.4686A>T (p.Ala1562=)
c.4842A>T (p.Ala1614=)
12g.51806296G>ACA384880285SCN8Ac.4810G>A (p.Asp1604Asn)
c.2874G>A
c.4687G>A (p.Asp1563Asn)
c.4843G>A (p.Asp1615Asn)
12g.51806296G>CCA384880284SCN8Ac.4810G>C (p.Asp1604His)
c.2874G>C
c.4687G>C (p.Asp1563His)
c.4843G>C (p.Asp1615His)
12g.51806296G>TCA384880283SCN8Ac.4810G>T (p.Asp1604Tyr)
c.2874G>T
c.4687G>T (p.Asp1563Tyr)
c.4843G>T (p.Asp1615Tyr)
12g.51806297A>CCA384880288SCN8Ac.4811A>C (p.Asp1604Ala)
c.2875A>C
c.4688A>C (p.Asp1563Ala)
c.4844A>C (p.Asp1615Ala)
12g.51806297A>GCA384880286SCN8Ac.4811A>G (p.Asp1604Gly)
c.2875A>G
c.4688A>G (p.Asp1563Gly)
c.4844A>G (p.Asp1615Gly)
12g.51806297A>TCA384880287SCN8Ac.4811A>T (p.Asp1604Val)
c.2875A>T
c.4688A>T (p.Asp1563Val)
c.4844A>T (p.Asp1615Val)
12g.51806298T>ACA384880289SCN8Ac.4812T>A (p.Asp1604Glu)
c.2876T>A
c.4689T>A (p.Asp1563Glu)
c.4845T>A (p.Asp1615Glu)
12g.51806298T>CCA479787997SCN8Ac.4812T>C (p.Asp1604=)
c.2876T>C
c.4689T>C (p.Asp1563=)
c.4845T>C (p.Asp1615=)
 dbSNP
12g.51806298T>GCA384880290SCN8Ac.4812T>G (p.Asp1604Glu)
c.2876T>G
c.4689T>G (p.Asp1563Glu)
c.4845T>G (p.Asp1615Glu)
12g.51806298T=CA2036192701SCN8Ac.4812T= (p.Asp1604=)
c.2876T=
c.4689T= (p.Asp1563=)
c.4845T= (p.Asp1615=)
12g.51806299A=CA2036192710SCN8Ac.4813A= (p.Ile1605=)
c.2877A=
c.4690A= (p.Ile1564=)
c.4846A= (p.Ile1616=)
12g.51806299A>CCA384880291SCN8Ac.4813A>C (p.Ile1605Leu)
c.2877A>C
c.4690A>C (p.Ile1564Leu)
c.4846A>C (p.Ile1616Leu)
12g.51806299A>GCA10586304SCN8Ac.4813A>G (p.Ile1605Val)
c.2877A>G
c.4690A>G (p.Ile1564Val)
c.4846A>G (p.Ile1616Val)
 ClinVar dbSNP
12g.51806299A>TCA384880292SCN8Ac.4813A>T (p.Ile1605Leu)
c.2877A>T
c.4690A>T (p.Ile1564Leu)
c.4846A>T (p.Ile1616Leu)
12g.51806300T>ACA384880293SCN8Ac.4814T>A (p.Ile1605Lys)
c.2878T>A
c.4691T>A (p.Ile1564Lys)
c.4847T>A (p.Ile1616Lys)
12g.51806300T>CCA384880295SCN8Ac.4814T>C (p.Ile1605Thr)
c.2878T>C
c.4691T>C (p.Ile1564Thr)
c.4847T>C (p.Ile1616Thr)
 ClinVar dbSNP
12g.51806300T>GCA384880294SCN8Ac.4814T>G (p.Ile1605Arg)
c.2878T>G
c.4691T>G (p.Ile1564Arg)
c.4847T>G (p.Ile1616Arg)
12g.51806301A>CCA479787998SCN8Ac.4815A>C (p.Ile1605=)
c.2879A>C
c.4692A>C (p.Ile1564=)
c.4848A>C (p.Ile1616=)
12g.51806301A>GCA384880296SCN8Ac.4815A>G (p.Ile1605Met)
c.2879A>G
c.4692A>G (p.Ile1564Met)
c.4848A>G (p.Ile1616Met)
12g.51806301A>TCA479787999SCN8Ac.4815A>T (p.Ile1605=)
c.2879A>T
c.4692A>T (p.Ile1564=)
c.4848A>T (p.Ile1616=)
12g.51806302A>CCA384880297SCN8Ac.4816A>C (p.Ile1606Leu)
c.2880A>C
c.4693A>C (p.Ile1565Leu)
c.4849A>C (p.Ile1617Leu)
12g.51806302A>GCA384880298SCN8Ac.4816A>G (p.Ile1606Val)
c.2880A>G
c.4693A>G (p.Ile1565Val)
c.4849A>G (p.Ile1617Val)
12g.51806302A>TCA384880299SCN8Ac.4816A>T (p.Ile1606Phe)
c.2880A>T
c.4693A>T (p.Ile1565Phe)
c.4849A>T (p.Ile1617Phe)
12g.51806303T>ACA384880300SCN8Ac.4817T>A (p.Ile1606Asn)
c.2881T>A
c.4694T>A (p.Ile1565Asn)
c.4850T>A (p.Ile1617Asn)
12g.51806303T>CCA384880302SCN8Ac.4817T>C (p.Ile1606Thr)
c.2881T>C
c.4694T>C (p.Ile1565Thr)
c.4850T>C (p.Ile1617Thr)
 ClinVar dbSNP
12g.51806303T>GCA384880301SCN8Ac.4817T>G (p.Ile1606Ser)
c.2881T>G
c.4694T>G (p.Ile1565Ser)
c.4850T>G (p.Ile1617Ser)
12g.51806304T>ACA479788000SCN8Ac.4818T>A (p.Ile1606=)
c.2882T>A
c.4695T>A (p.Ile1565=)
c.4851T>A (p.Ile1617=)
12g.51806304T>CCA479788001SCN8Ac.4818T>C (p.Ile1606=)
c.2882T>C
c.4695T>C (p.Ile1565=)
c.4851T>C (p.Ile1617=)
12g.51806304T>GCA384880303SCN8Ac.4818T>G (p.Ile1606Met)
c.2882T>G
c.4695T>G (p.Ile1565Met)
c.4851T>G (p.Ile1617Met)
12g.51806305G>ACA384880304SCN8Ac.4819G>A (p.Glu1607Lys)
c.2883G>A
c.4696G>A (p.Glu1566Lys)
c.4852G>A (p.Glu1618Lys)
 ClinVar dbSNP COSMIC COSMIC
12g.51806305G>CCA384880305SCN8Ac.4819G>C (p.Glu1607Gln)
c.2883G>C
c.4696G>C (p.Glu1566Gln)
c.4852G>C (p.Glu1618Gln)
 COSMIC COSMIC
12g.51806305G=CA2036192718SCN8Ac.4819G= (p.Glu1607=)
c.2883G=
c.4696G= (p.Glu1566=)
c.4852G= (p.Glu1618=)
12g.51806305G>TCA384880306SCN8Ac.4819G>T (p.Glu1607Ter)
c.2883G>T
c.4696G>T (p.Glu1566Ter)
c.4852G>T (p.Glu1618Ter)
 dbSNP
12g.51806306A>CCA384880307SCN8Ac.4820A>C (p.Glu1607Ala)
c.2884A>C
c.4697A>C (p.Glu1566Ala)
c.4853A>C (p.Glu1618Ala)
12g.51806306A>GCA384880308SCN8Ac.4820A>G (p.Glu1607Gly)
c.2884A>G
c.4697A>G (p.Glu1566Gly)
c.4853A>G (p.Glu1618Gly)
12g.51806306A>TCA384880309SCN8Ac.4820A>T (p.Glu1607Val)
c.2884A>T
c.4697A>T (p.Glu1566Val)
c.4853A>T (p.Glu1618Val)
12g.51806307G>ACA479788003SCN8Ac.4821G>A (p.Glu1607=)
c.2885G>A
c.4698G>A (p.Glu1566=)
c.4854G>A (p.Glu1618=)
12g.51806307G>CCA384880310SCN8Ac.4821G>C (p.Glu1607Asp)
c.2885G>C
c.4698G>C (p.Glu1566Asp)
c.4854G>C (p.Glu1618Asp)
12g.51806307G>TCA384880311SCN8Ac.4821G>T (p.Glu1607Asp)
c.2885G>T
c.4698G>T (p.Glu1566Asp)
c.4854G>T (p.Glu1618Asp)
12g.51806308A>CCA384880312SCN8Ac.4822A>C (p.Lys1608Gln)
c.2886A>C
c.4699A>C (p.Lys1567Gln)
c.4855A>C (p.Lys1619Gln)
12g.51806308A>GCA384880313SCN8Ac.4822A>G (p.Lys1608Glu)
c.2886A>G
c.4699A>G (p.Lys1567Glu)
c.4855A>G (p.Lys1619Glu)
12g.51806308A>TCA384880314SCN8Ac.4822A>T (p.Lys1608Ter)
c.2886A>T
c.4699A>T (p.Lys1567Ter)
c.4855A>T (p.Lys1619Ter)
12g.51806309A>CCA384880317SCN8Ac.4823A>C (p.Lys1608Thr)
c.2887A>C
c.4700A>C (p.Lys1567Thr)
c.4856A>C (p.Lys1619Thr)
 gnomAD v4
12g.51806309A>GCA384880316SCN8Ac.4823A>G (p.Lys1608Arg)
c.2887A>G
c.4700A>G (p.Lys1567Arg)
c.4856A>G (p.Lys1619Arg)
12g.51806309A>TCA384880315SCN8Ac.4823A>T (p.Lys1608Ile)
c.2887A>T
c.4700A>T (p.Lys1567Ile)
c.4856A>T (p.Lys1619Ile)
12g.51806310A=CA2036192728SCN8Ac.4824A= (p.Lys1608=)
c.2888A=
c.4701A= (p.Lys1567=)
c.4857A= (p.Lys1619=)
12g.51806310A>CCA384880318SCN8Ac.4824A>C (p.Lys1608Asn)
c.2888A>C
c.4701A>C (p.Lys1567Asn)
c.4857A>C (p.Lys1619Asn)
12g.51806310A>GCA479788004SCN8Ac.4824A>G (p.Lys1608=)
c.2888A>G
c.4701A>G (p.Lys1567=)
c.4857A>G (p.Lys1619=)
 dbSNP gnomAD v4
12g.51806310A>TCA384880319SCN8Ac.4824A>T (p.Lys1608Asn)
c.2888A>T
c.4701A>T (p.Lys1567Asn)
c.4857A>T (p.Lys1619Asn)
12g.51806311T>ACA384880320SCN8Ac.4825T>A (p.Tyr1609Asn)
c.2889T>A
c.4702T>A (p.Tyr1568Asn)
c.4858T>A (p.Tyr1620Asn)
12g.51806311T>CCA384880321SCN8Ac.4825T>C (p.Tyr1609His)
c.2889T>C
c.4702T>C (p.Tyr1568His)
c.4858T>C (p.Tyr1620His)
 ClinVar dbSNP
12g.51806311T>GCA384880322SCN8Ac.4825T>G (p.Tyr1609Asp)
c.2889T>G
c.4702T>G (p.Tyr1568Asp)
c.4858T>G (p.Tyr1620Asp)
12g.51806312A>CCA384880323SCN8Ac.4826A>C (p.Tyr1609Ser)
c.2890A>C
c.4703A>C (p.Tyr1568Ser)
c.4859A>C (p.Tyr1620Ser)
 ClinVar
12g.51806312A>GCA384880324SCN8Ac.4826A>G (p.Tyr1609Cys)
c.2890A>G
c.4703A>G (p.Tyr1568Cys)
c.4859A>G (p.Tyr1620Cys)
12g.51806312A>TCA384880325SCN8Ac.4826A>T (p.Tyr1609Phe)
c.2890A>T
c.4703A>T (p.Tyr1568Phe)
c.4859A>T (p.Tyr1620Phe)
12g.51806313C>ACA384880326SCN8Ac.4827C>A (p.Tyr1609Ter)
c.2891C>A
c.4704C>A (p.Tyr1568Ter)
c.4860C>A (p.Tyr1620Ter)
 gnomAD v4
12g.51806313C>GCA384880327SCN8Ac.4827C>G (p.Tyr1609Ter)
c.2891C>G
c.4704C>G (p.Tyr1568Ter)
c.4860C>G (p.Tyr1620Ter)
12g.51806313C>TCA479788005SCN8Ac.4827C>T (p.Tyr1609=)
c.2891C>T
c.4704C>T (p.Tyr1568=)
c.4860C>T (p.Tyr1620=)
12g.51806314T>ACA384880328SCN8Ac.4828T>A (p.Phe1610Ile)
c.2892T>A
c.4705T>A (p.Phe1569Ile)
c.4861T>A (p.Phe1621Ile)
12g.51806314T>CCA384880329SCN8Ac.4828T>C (p.Phe1610Leu)
c.2892T>C
c.4705T>C (p.Phe1569Leu)
c.4861T>C (p.Phe1621Leu)
12g.51806314T>GCA384880330SCN8Ac.4828T>G (p.Phe1610Val)
c.2892T>G
c.4705T>G (p.Phe1569Val)
c.4861T>G (p.Phe1621Val)
12g.51806315T>ACA384880331SCN8Ac.4829T>A (p.Phe1610Tyr)
c.2893T>A
c.4706T>A (p.Phe1569Tyr)
c.4862T>A (p.Phe1621Tyr)
12g.51806315T>CCA384880332SCN8Ac.4829T>C (p.Phe1610Ser)
c.2893T>C
c.4706T>C (p.Phe1569Ser)
c.4862T>C (p.Phe1621Ser)
12g.51806315T>GCA384880333SCN8Ac.4829T>G (p.Phe1610Cys)
c.2893T>G
c.4706T>G (p.Phe1569Cys)
c.4862T>G (p.Phe1621Cys)
12g.51806316T>ACA384880334SCN8Ac.4830T>A (p.Phe1610Leu)
c.2894T>A
c.4707T>A (p.Phe1569Leu)
c.4863T>A (p.Phe1621Leu)
12g.51806316T>CCA6571873SCN8Ac.4830T>C (p.Phe1610=)
c.2894T>C
c.4707T>C (p.Phe1569=)
c.4863T>C (p.Phe1621=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806316T>GCA384880335SCN8Ac.4830T>G (p.Phe1610Leu)
c.2894T>G
c.4707T>G (p.Phe1569Leu)
c.4863T>G (p.Phe1621Leu)
12g.51806316T=CA2036192739SCN8Ac.4830T= (p.Phe1610=)
c.2894T=
c.4707T= (p.Phe1569=)
c.4863T= (p.Phe1621=)
12g.51806317G>ACA384880336SCN8Ac.4831G>A (p.Val1611Ile)
c.2895G>A
c.4708G>A (p.Val1570Ile)
c.4864G>A (p.Val1622Ile)
12g.51806317G>CCA384880337SCN8Ac.4831G>C (p.Val1611Leu)
c.2895G>C
c.4708G>C (p.Val1570Leu)
c.4864G>C (p.Val1622Leu)
12g.51806317G>TCA384880338SCN8Ac.4831G>T (p.Val1611Phe)
c.2895G>T
c.4708G>T (p.Val1570Phe)
c.4864G>T (p.Val1622Phe)
12g.51806318T>ACA384880339SCN8Ac.4832T>A (p.Val1611Asp)
c.2896T>A
c.4709T>A (p.Val1570Asp)
c.4865T>A (p.Val1622Asp)
12g.51806318T>CCA384880340SCN8Ac.4832T>C (p.Val1611Ala)
c.2896T>C
c.4709T>C (p.Val1570Ala)
c.4865T>C (p.Val1622Ala)
12g.51806318T>GCA384880341SCN8Ac.4832T>G (p.Val1611Gly)
c.2896T>G
c.4709T>G (p.Val1570Gly)
c.4865T>G (p.Val1622Gly)
12g.51806319T>ACA479788008SCN8Ac.4833T>A (p.Val1611=)
c.2897T>A
c.4710T>A (p.Val1570=)
c.4866T>A (p.Val1622=)
12g.51806319T>CCA479788009SCN8Ac.4833T>C (p.Val1611=)
c.2897T>C
c.4710T>C (p.Val1570=)
c.4866T>C (p.Val1622=)
 gnomAD v4
12g.51806319T>GCA479788010SCN8Ac.4833T>G (p.Val1611=)
c.2897T>G
c.4710T>G (p.Val1570=)
c.4866T>G (p.Val1622=)
12g.51806320T>ACA384880342SCN8Ac.4834T>A (p.Ser1612Thr)
c.2898T>A
c.4711T>A (p.Ser1571Thr)
c.4867T>A (p.Ser1623Thr)
12g.51806320T>CCA384880343SCN8Ac.4834T>C (p.Ser1612Pro)
c.2898T>C
c.4711T>C (p.Ser1571Pro)
c.4867T>C (p.Ser1623Pro)
12g.51806320T>GCA384880344SCN8Ac.4834T>G (p.Ser1612Ala)
c.2898T>G
c.4711T>G (p.Ser1571Ala)
c.4867T>G (p.Ser1623Ala)
12g.51806321C>ACA384880346SCN8Ac.4835C>A (p.Ser1612Tyr)
c.2899C>A
c.4712C>A (p.Ser1571Tyr)
c.4868C>A (p.Ser1623Tyr)
12g.51806321C>GCA384880347SCN8Ac.4835C>G (p.Ser1612Cys)
c.2899C>G
c.4712C>G (p.Ser1571Cys)
c.4868C>G (p.Ser1623Cys)
12g.51806321C>TCA384880348SCN8Ac.4835C>T (p.Ser1612Phe)
c.2899C>T
c.4712C>T (p.Ser1571Phe)
c.4868C>T (p.Ser1623Phe)
12g.51806322C>ACA479788012SCN8Ac.4836C>A (p.Ser1612=)
c.2900C>A
c.4713C>A (p.Ser1571=)
c.4869C>A (p.Ser1623=)
12g.51806322C>GCA479788013SCN8Ac.4836C>G (p.Ser1612=)
c.2900C>G
c.4713C>G (p.Ser1571=)
c.4869C>G (p.Ser1623=)
12g.51806322C>TCA479788014SCN8Ac.4836C>T (p.Ser1612=)
c.2900C>T
c.4713C>T (p.Ser1571=)
c.4869C>T (p.Ser1623=)
 ClinVar dbSNP gnomAD v4
12g.51806323C>ACA384880349SCN8Ac.4837C>A (p.Pro1613Thr)
c.2901C>A
c.4714C>A (p.Pro1572Thr)
c.4870C>A (p.Pro1624Thr)
 gnomAD v4
12g.51806323C=CA2036192749SCN8Ac.4837C= (p.Pro1613=)
c.2901C=
c.4714C= (p.Pro1572=)
c.4870C= (p.Pro1624=)
12g.51806323C>GCA236327317SCN8Ac.4837C>G (p.Pro1613Ala)
c.2901C>G
c.4714C>G (p.Pro1572Ala)
c.4870C>G (p.Pro1624Ala)
 dbSNP
12g.51806323C>TCA384880350SCN8Ac.4837C>T (p.Pro1613Ser)
c.2901C>T
c.4714C>T (p.Pro1572Ser)
c.4870C>T (p.Pro1624Ser)
 COSMIC COSMIC
12g.51806324C>ACA384880351SCN8Ac.4838C>A (p.Pro1613Gln)
c.2902C>A
c.4715C>A (p.Pro1572Gln)
c.4871C>A (p.Pro1624Gln)
 gnomAD v4
12g.51806324C>GCA384880352SCN8Ac.4838C>G (p.Pro1613Arg)
c.2902C>G
c.4715C>G (p.Pro1572Arg)
c.4871C>G (p.Pro1624Arg)
12g.51806324C>TCA384880353SCN8Ac.4838C>T (p.Pro1613Leu)
c.2902C>T
c.4715C>T (p.Pro1572Leu)
c.4871C>T (p.Pro1624Leu)
12g.51806325A=CA2036192753SCN8Ac.4839A= (p.Pro1613=)
c.2903A=
c.4716A= (p.Pro1572=)
c.4872A= (p.Pro1624=)
12g.51806325A>CCA479788015SCN8Ac.4839A>C (p.Pro1613=)
c.2903A>C
c.4716A>C (p.Pro1572=)
c.4872A>C (p.Pro1624=)
12g.51806325A>GCA479788016SCN8Ac.4839A>G (p.Pro1613=)
c.2903A>G
c.4716A>G (p.Pro1572=)
c.4872A>G (p.Pro1624=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51806325A>TCA479788017SCN8Ac.4839A>T (p.Pro1613=)
c.2903A>T
c.4716A>T (p.Pro1572=)
c.4872A>T (p.Pro1624=)
12g.51806326A=CA2036192756SCN8Ac.4840A= (p.Thr1614=)
c.2904A=
c.4717A= (p.Thr1573=)
c.4873A= (p.Thr1625=)
12g.51806326A>CCA384880354SCN8Ac.4840A>C (p.Thr1614Pro)
c.2904A>C
c.4717A>C (p.Thr1573Pro)
c.4873A>C (p.Thr1625Pro)
12g.51806326A>GCA384880355SCN8Ac.4840A>G (p.Thr1614Ala)
c.2904A>G
c.4717A>G (p.Thr1573Ala)
c.4873A>G (p.Thr1625Ala)
 ClinVar dbSNP
12g.51806326A>TCA384880356SCN8Ac.4840A>T (p.Thr1614Ser)
c.2904A>T
c.4717A>T (p.Thr1573Ser)
c.4873A>T (p.Thr1625Ser)
12g.51806327C>ACA384880359SCN8Ac.4841C>A (p.Thr1614Asn)
c.2905C>A
c.4718C>A (p.Thr1573Asn)
c.4874C>A (p.Thr1625Asn)
 ClinVar
12g.51806327C>GCA384880357SCN8Ac.4841C>G (p.Thr1614Ser)
c.2905C>G
c.4718C>G (p.Thr1573Ser)
c.4874C>G (p.Thr1625Ser)
12g.51806327C>TCA384880358SCN8Ac.4841C>T (p.Thr1614Ile)
c.2905C>T
c.4718C>T (p.Thr1573Ile)
c.4874C>T (p.Thr1625Ile)
12g.51806328C>ACA479788019SCN8Ac.4842C>A (p.Thr1614=)
c.2906C>A
c.4719C>A (p.Thr1573=)
c.4875C>A (p.Thr1625=)
12g.51806328C>GCA479788021SCN8Ac.4842C>G (p.Thr1614=)
c.2906C>G
c.4719C>G (p.Thr1573=)
c.4875C>G (p.Thr1625=)
12g.51806328C>TCA479788022SCN8Ac.4842C>T (p.Thr1614=)
c.2906C>T
c.4719C>T (p.Thr1573=)
c.4875C>T (p.Thr1625=)
 ClinVar dbSNP
12g.51806329C>ACA384880360SCN8Ac.4843C>A (p.Leu1615Ile)
c.2907C>A
c.4720C>A (p.Leu1574Ile)
c.4876C>A (p.Leu1626Ile)
12g.51806329C>GCA384880361SCN8Ac.4843C>G (p.Leu1615Val)
c.2907C>G
c.4720C>G (p.Leu1574Val)
c.4876C>G (p.Leu1626Val)
12g.51806329C>TCA479788023SCN8Ac.4843C>T (p.Leu1615=)
c.2907C>T
c.4720C>T (p.Leu1574=)
c.4876C>T (p.Leu1626=)
 gnomAD v4
12g.51806330T>ACA384880362SCN8Ac.4844T>A (p.Leu1615Gln)
c.2908T>A
c.4721T>A (p.Leu1574Gln)
c.4877T>A (p.Leu1626Gln)
12g.51806330T>CCA384880363SCN8Ac.4844T>C (p.Leu1615Pro)
c.2908T>C
c.4721T>C (p.Leu1574Pro)
c.4877T>C (p.Leu1626Pro)
12g.51806330T>GCA384880364SCN8Ac.4844T>G (p.Leu1615Arg)
c.2908T>G
c.4721T>G (p.Leu1574Arg)
c.4877T>G (p.Leu1626Arg)
12g.51806331A>CCA479788027SCN8Ac.4845A>C (p.Leu1615=)
c.2909A>C
c.4722A>C (p.Leu1574=)
c.4878A>C (p.Leu1626=)
12g.51806331A>GCA479788028SCN8Ac.4845A>G (p.Leu1615=)
c.2909A>G
c.4722A>G (p.Leu1574=)
c.4878A>G (p.Leu1626=)
12g.51806331A>TCA479788029SCN8Ac.4845A>T (p.Leu1615=)
c.2909A>T
c.4722A>T (p.Leu1574=)
c.4878A>T (p.Leu1626=)
12g.51806332T>ACA384880365SCN8Ac.4846T>A (p.Phe1616Ile)
c.2910T>A
c.4723T>A (p.Phe1575Ile)
c.4879T>A (p.Phe1627Ile)
12g.51806332T>CCA384880367SCN8Ac.4846T>C (p.Phe1616Leu)
c.2910T>C
c.4723T>C (p.Phe1575Leu)
c.4879T>C (p.Phe1627Leu)
12g.51806332T>GCA384880366SCN8Ac.4846T>G (p.Phe1616Val)
c.2910T>G
c.4723T>G (p.Phe1575Val)
c.4879T>G (p.Phe1627Val)
12g.51806333T>ACA384880368SCN8Ac.4847T>A (p.Phe1616Tyr)
c.2911T>A
c.4724T>A (p.Phe1575Tyr)
c.4880T>A (p.Phe1627Tyr)
12g.51806333T>CCA384880369SCN8Ac.4847T>C (p.Phe1616Ser)
c.2911T>C
c.4724T>C (p.Phe1575Ser)
c.4880T>C (p.Phe1627Ser)
12g.51806333T>GCA384880370SCN8Ac.4847T>G (p.Phe1616Cys)
c.2911T>G
c.4724T>G (p.Phe1575Cys)
c.4880T>G (p.Phe1627Cys)
12g.51806334C>ACA384880371SCN8Ac.4848C>A (p.Phe1616Leu)
c.2912C>A
c.4725C>A (p.Phe1575Leu)
c.4881C>A (p.Phe1627Leu)
12g.51806334C>GCA384880372SCN8Ac.4848C>G (p.Phe1616Leu)
c.2912C>G
c.4725C>G (p.Phe1575Leu)
c.4881C>G (p.Phe1627Leu)
12g.51806334C>TCA479788030SCN8Ac.4848C>T (p.Phe1616=)
c.2912C>T
c.4725C>T (p.Phe1575=)
c.4881C>T (p.Phe1627=)
12g.51806334_51806338delCA2739291672SCN8Ac.4848_4852del (p.Arg1617HisfsTer?)
c.2912_2916del
c.4725_4729del (p.Arg1576HisfsTer?)
c.4881_4885del (p.Arg1628HisfsTer?)
12g.51806335C>ACA479788032SCN8Ac.4849C>A (p.Arg1617=)
c.2913C>A
c.4726C>A (p.Arg1576=)
c.4882C>A (p.Arg1628=)
12g.51806335C=CA2036192768SCN8Ac.4849C= (p.Arg1617=)
c.2913C=
c.4726C= (p.Arg1576=)
c.4882C= (p.Arg1628=)
12g.51806335C>GCA384880373SCN8Ac.4849C>G (p.Arg1617Gly)
c.2913C>G
c.4726C>G (p.Arg1576Gly)
c.4882C>G (p.Arg1628Gly)
12g.51806335C>TCA6571874SCN8Ac.4849C>T (p.Arg1617Ter)
c.2913C>T
c.4726C>T (p.Arg1576Ter)
c.4882C>T (p.Arg1628Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806336G>ACA170757SCN8Ac.4850G>A (p.Arg1617Gln)
c.2914G>A
c.4727G>A (p.Arg1576Gln)
c.4883G>A (p.Arg1628Gln)
 ClinVar dbSNP
12g.51806336G>CCA384880374SCN8Ac.4850G>C (p.Arg1617Pro)
c.2914G>C
c.4727G>C (p.Arg1576Pro)
c.4883G>C (p.Arg1628Pro)
12g.51806336G=CA2036192779SCN8Ac.4850G= (p.Arg1617=)
c.2914G=
c.4727G= (p.Arg1576=)
c.4883G= (p.Arg1628=)
12g.51806336G>TCA384880375SCN8Ac.4850G>T (p.Arg1617Leu)
c.2914G>T
c.4727G>T (p.Arg1576Leu)
c.4883G>T (p.Arg1628Leu)
 ClinVar dbSNP
12g.51806337A>CCA479788035SCN8Ac.4851A>C (p.Arg1617=)
c.2915A>C
c.4728A>C (p.Arg1576=)
c.4884A>C (p.Arg1628=)
12g.51806337A>GCA479788033SCN8Ac.4851A>G (p.Arg1617=)
c.2915A>G
c.4728A>G (p.Arg1576=)
c.4884A>G (p.Arg1628=)
 gnomAD v4
12g.51806337A>TCA479788034SCN8Ac.4851A>T (p.Arg1617=)
c.2915A>T
c.4728A>T (p.Arg1576=)
c.4884A>T (p.Arg1628=)
12g.51806338G>ACA384880376SCN8Ac.4852G>A (p.Val1618Ile)
c.2916G>A
c.4729G>A (p.Val1577Ile)
c.4885G>A (p.Val1629Ile)
 COSMIC COSMIC
12g.51806338G>CCA384880378SCN8Ac.4852G>C (p.Val1618Leu)
c.2916G>C
c.4729G>C (p.Val1577Leu)
c.4885G>C (p.Val1629Leu)
12g.51806338G>TCA384880377SCN8Ac.4852G>T (p.Val1618Phe)
c.2916G>T
c.4729G>T (p.Val1577Phe)
c.4885G>T (p.Val1629Phe)
12g.51806339T>ACA384880379SCN8Ac.4853T>A (p.Val1618Asp)
c.2917T>A
c.4730T>A (p.Val1577Asp)
c.4886T>A (p.Val1629Asp)
12g.51806339T>CCA384880381SCN8Ac.4853T>C (p.Val1618Ala)
c.2917T>C
c.4730T>C (p.Val1577Ala)
c.4886T>C (p.Val1629Ala)
12g.51806339T>GCA384880380SCN8Ac.4853T>G (p.Val1618Gly)
c.2917T>G
c.4730T>G (p.Val1577Gly)
c.4886T>G (p.Val1629Gly)
12g.51806340C>ACA479788037SCN8Ac.4854C>A (p.Val1618=)
c.2918C>A
c.4731C>A (p.Val1577=)
c.4887C>A (p.Val1629=)
12g.51806340C>GCA479788040SCN8Ac.4854C>G (p.Val1618=)
c.2918C>G
c.4731C>G (p.Val1577=)
c.4887C>G (p.Val1629=)
12g.51806340C>TCA479788038SCN8Ac.4854C>T (p.Val1618=)
c.2918C>T
c.4731C>T (p.Val1577=)
c.4887C>T (p.Val1629=)
12g.51806341A=CA2036192790SCN8Ac.4855A= (p.Ile1619=)
c.2919A=
c.4732A= (p.Ile1578=)
c.4888A= (p.Ile1630=)
12g.51806341A>CCA384880382SCN8Ac.4855A>C (p.Ile1619Leu)
c.2919A>C
c.4732A>C (p.Ile1578Leu)
c.4888A>C (p.Ile1630Leu)
 dbSNP gnomAD v3 gnomAD v4
12g.51806341A>GCA384880384SCN8Ac.4855A>G (p.Ile1619Val)
c.2919A>G
c.4732A>G (p.Ile1578Val)
c.4888A>G (p.Ile1630Val)
12g.51806341A>TCA384880383SCN8Ac.4855A>T (p.Ile1619Phe)
c.2919A>T
c.4732A>T (p.Ile1578Phe)
c.4888A>T (p.Ile1630Phe)
12g.51806342T>ACA384880385SCN8Ac.4856T>A (p.Ile1619Asn)
c.2920T>A
c.4733T>A (p.Ile1578Asn)
c.4889T>A (p.Ile1630Asn)
12g.51806342T>CCA384880386SCN8Ac.4856T>C (p.Ile1619Thr)
c.2920T>C
c.4733T>C (p.Ile1578Thr)
c.4889T>C (p.Ile1630Thr)
12g.51806342T>GCA384880387SCN8Ac.4856T>G (p.Ile1619Ser)
c.2920T>G
c.4733T>G (p.Ile1578Ser)
c.4889T>G (p.Ile1630Ser)
12g.51806343C>ACA479788042SCN8Ac.4857C>A (p.Ile1619=)
c.2921C>A
c.4734C>A (p.Ile1578=)
c.4890C>A (p.Ile1630=)
 gnomAD v4
12g.51806343C=CA2036192795SCN8Ac.4857C= (p.Ile1619=)
c.2921C=
c.4734C= (p.Ile1578=)
c.4890C= (p.Ile1630=)
12g.51806343C>GCA384880388SCN8Ac.4857C>G (p.Ile1619Met)
c.2921C>G
c.4734C>G (p.Ile1578Met)
c.4890C>G (p.Ile1630Met)
12g.51806343C>TCA479788044SCN8Ac.4857C>T (p.Ile1619=)
c.2921C>T
c.4734C>T (p.Ile1578=)
c.4890C>T (p.Ile1630=)
 dbSNP gnomAD v3 gnomAD v4
12g.51806344C>ACA479788045SCN8Ac.4858C>A (p.Arg1620=)
c.2922C>A
c.4735C>A (p.Arg1579=)
c.4891C>A (p.Arg1631=)
 gnomAD v4
12g.51806344C=CA2036192798SCN8Ac.4858C= (p.Arg1620=)
c.2922C=
c.4735C= (p.Arg1579=)
c.4891C= (p.Arg1631=)
12g.51806344C>GCA384880389SCN8Ac.4858C>G (p.Arg1620Gly)
c.2922C>G
c.4735C>G (p.Arg1579Gly)
c.4891C>G (p.Arg1631Gly)
12g.51806344C>TCA384880390SCN8Ac.4858C>T (p.Arg1620Ter)
c.2922C>T
c.4735C>T (p.Arg1579Ter)
c.4891C>T (p.Arg1631Ter)
 ClinVar dbSNP COSMIC COSMIC
12g.51806345G>ACA384880391SCN8Ac.4859G>A (p.Arg1620Gln)
c.2923G>A
c.4736G>A (p.Arg1579Gln)
c.4892G>A (p.Arg1631Gln)
 gnomAD v4
12g.51806345G>CCA384880392SCN8Ac.4859G>C (p.Arg1620Pro)
c.2923G>C
c.4736G>C (p.Arg1579Pro)
c.4892G>C (p.Arg1631Pro)
12g.51806345G=CA2036192803SCN8Ac.4859G= (p.Arg1620=)
c.2923G=
c.4736G= (p.Arg1579=)
c.4892G= (p.Arg1631=)
12g.51806345G>TCA358166SCN8Ac.4859G>T (p.Arg1620Leu)
c.2923G>T
c.4736G>T (p.Arg1579Leu)
c.4892G>T (p.Arg1631Leu)
 ClinVar dbSNP
12g.51806346_51806349dupCA2695216870SCN8Ac.4860_4863dup (p.Ala1622IlefsTer?)
c.2924_2927dup
c.4737_4740dup (p.Ala1581IlefsTer?)
c.4893_4896dup (p.Ala1633IlefsTer?)
12g.51806346A>CCA479788052SCN8Ac.4860A>C (p.Arg1620=)
c.2924A>C
c.4737A>C (p.Arg1579=)
c.4893A>C (p.Arg1631=)
12g.51806346A>GCA479788054SCN8Ac.4860A>G (p.Arg1620=)
c.2924A>G
c.4737A>G (p.Arg1579=)
c.4893A>G (p.Arg1631=)
 gnomAD v4
12g.51806346A>TCA479788055SCN8Ac.4860A>T (p.Arg1620=)
c.2924A>T
c.4737A>T (p.Arg1579=)
c.4893A>T (p.Arg1631=)
12g.51806347T>ACA384880393SCN8Ac.4861T>A (p.Leu1621Met)
c.2925T>A
c.4738T>A (p.Leu1580Met)
c.4894T>A (p.Leu1632Met)
12g.51806347T>CCA479788056SCN8Ac.4861T>C (p.Leu1621=)
c.2925T>C
c.4738T>C (p.Leu1580=)
c.4894T>C (p.Leu1632=)
 ClinVar dbSNP gnomAD v4
12g.51806347T>GCA384880394SCN8Ac.4861T>G (p.Leu1621Val)
c.2925T>G
c.4738T>G (p.Leu1580Val)
c.4894T>G (p.Leu1632Val)
12g.51806348T>ACA384880396SCN8Ac.4862T>A (p.Leu1621Ter)
c.2926T>A
c.4739T>A (p.Leu1580Ter)
c.4895T>A (p.Leu1632Ter)
 dbSNP
12g.51806348T>CCA384880395SCN8Ac.4862T>C (p.Leu1621Ser)
c.2926T>C
c.4739T>C (p.Leu1580Ser)
c.4895T>C (p.Leu1632Ser)
12g.51806348T>GCA10586297SCN8Ac.4862T>G (p.Leu1621Trp)
c.2926T>G
c.4739T>G (p.Leu1580Trp)
c.4895T>G (p.Leu1632Trp)
 ClinVar dbSNP
12g.51806348T=CA2036192806SCN8Ac.4862T= (p.Leu1621=)
c.2926T=
c.4739T= (p.Leu1580=)
c.4895T= (p.Leu1632=)
12g.51806349G>ACA479788057SCN8Ac.4863G>A (p.Leu1621=)
c.2927G>A
c.4740G>A (p.Leu1580=)
c.4896G>A (p.Leu1632=)
12g.51806349G>CCA384880397SCN8Ac.4863G>C (p.Leu1621Phe)
c.2927G>C
c.4740G>C (p.Leu1580Phe)
c.4896G>C (p.Leu1632Phe)
12g.51806349G>TCA384880398SCN8Ac.4863G>T (p.Leu1621Phe)
c.2927G>T
c.4740G>T (p.Leu1580Phe)
c.4896G>T (p.Leu1632Phe)
 gnomAD v4
12g.51806350G>ACA384880399SCN8Ac.4864G>A (p.Ala1622Thr)
c.2928G>A
c.4741G>A (p.Ala1581Thr)
c.4897G>A (p.Ala1633Thr)
12g.51806350G>CCA384880400SCN8Ac.4864G>C (p.Ala1622Pro)
c.2928G>C
c.4741G>C (p.Ala1581Pro)
c.4897G>C (p.Ala1633Pro)
12g.51806350G>TCA384880401SCN8Ac.4864G>T (p.Ala1622Ser)
c.2928G>T
c.4741G>T (p.Ala1581Ser)
c.4897G>T (p.Ala1633Ser)
12g.51806351C>ACA384880402SCN8Ac.4865C>A (p.Ala1622Asp)
c.2929C>A
c.4742C>A (p.Ala1581Asp)
c.4898C>A (p.Ala1633Asp)
 ClinVar dbSNP gnomAD v4
12g.51806351C=CA2036192815SCN8Ac.4865C= (p.Ala1622=)
c.2929C=
c.4742C= (p.Ala1581=)
c.4898C= (p.Ala1633=)
12g.51806351C>GCA384880403SCN8Ac.4865C>G (p.Ala1622Gly)
c.2929C>G
c.4742C>G (p.Ala1581Gly)
c.4898C>G (p.Ala1633Gly)
12g.51806351C>TCA384880404SCN8Ac.4865C>T (p.Ala1622Val)
c.2929C>T
c.4742C>T (p.Ala1581Val)
c.4898C>T (p.Ala1633Val)
12g.51806352C>ACA479788060SCN8Ac.4866C>A (p.Ala1622=)
c.2930C>A
c.4743C>A (p.Ala1581=)
c.4899C>A (p.Ala1633=)
 gnomAD v4
12g.51806352C>GCA479788061SCN8Ac.4866C>G (p.Ala1622=)
c.2930C>G
c.4743C>G (p.Ala1581=)
c.4899C>G (p.Ala1633=)
12g.51806352C>TCA479788062SCN8Ac.4866C>T (p.Ala1622=)
c.2930C>T
c.4743C>T (p.Ala1581=)
c.4899C>T (p.Ala1633=)
12g.51806353C>ACA384880405SCN8Ac.4867C>A (p.Arg1623Ser)
c.2931C>A
c.4744C>A (p.Arg1582Ser)
c.4900C>A (p.Arg1634Ser)
12g.51806353C=CA2036192818SCN8Ac.4867C= (p.Arg1623=)
c.2931C=
c.4744C= (p.Arg1582=)
c.4900C= (p.Arg1634=)
12g.51806353C>GCA384880406SCN8Ac.4867C>G (p.Arg1623Gly)
c.2931C>G
c.4744C>G (p.Arg1582Gly)
c.4900C>G (p.Arg1634Gly)
12g.51806353C>TCA236327337SCN8Ac.4867C>T (p.Arg1623Cys)
c.2931C>T
c.4744C>T (p.Arg1582Cys)
c.4900C>T (p.Arg1634Cys)
 ClinVar dbSNP
12g.51806354G>ACA384880409SCN8Ac.4868G>A (p.Arg1623His)
c.2932G>A
c.4745G>A (p.Arg1582His)
c.4901G>A (p.Arg1634His)
12g.51806354G>CCA384880408SCN8Ac.4868G>C (p.Arg1623Pro)
c.2932G>C
c.4745G>C (p.Arg1582Pro)
c.4901G>C (p.Arg1634Pro)
12g.51806354G>TCA384880407SCN8Ac.4868G>T (p.Arg1623Leu)
c.2932G>T
c.4745G>T (p.Arg1582Leu)
c.4901G>T (p.Arg1634Leu)
12g.51806355T>ACA479788066SCN8Ac.4869T>A (p.Arg1623=)
c.2933T>A
c.4746T>A (p.Arg1582=)
c.4902T>A (p.Arg1634=)
 dbSNP gnomAD v3 gnomAD v4
12g.51806355T>CCA479788064SCN8Ac.4869T>C (p.Arg1623=)
c.2933T>C
c.4746T>C (p.Arg1582=)
c.4902T>C (p.Arg1634=)
 dbSNP gnomAD v3 gnomAD v4
12g.51806355T>GCA479788063SCN8Ac.4869T>G (p.Arg1623=)
c.2933T>G
c.4746T>G (p.Arg1582=)
c.4902T>G (p.Arg1634=)
12g.51806355T=CA2036192822SCN8Ac.4869T= (p.Arg1623=)
c.2933T=
c.4746T= (p.Arg1582=)
c.4902T= (p.Arg1634=)
12g.51806356A>CCA384880410SCN8Ac.4870A>C (p.Ile1624Leu)
c.2934A>C
c.4747A>C (p.Ile1583Leu)
c.4903A>C (p.Ile1635Leu)
12g.51806356A>GCA384880411SCN8Ac.4870A>G (p.Ile1624Val)
c.2934A>G
c.4747A>G (p.Ile1583Val)
c.4903A>G (p.Ile1635Val)
 ClinVar dbSNP
12g.51806356A>TCA384880412SCN8Ac.4870A>T (p.Ile1624Phe)
c.2934A>T
c.4747A>T (p.Ile1583Phe)
c.4903A>T (p.Ile1635Phe)
12g.51806357T>ACA384880413SCN8Ac.4871T>A (p.Ile1624Asn)
c.2935T>A
c.4748T>A (p.Ile1583Asn)
c.4904T>A (p.Ile1635Asn)
12g.51806357T>CCA384880414SCN8Ac.4871T>C (p.Ile1624Thr)
c.2935T>C
c.4748T>C (p.Ile1583Thr)
c.4904T>C (p.Ile1635Thr)
12g.51806357T>GCA384880415SCN8Ac.4871T>G (p.Ile1624Ser)
c.2935T>G
c.4748T>G (p.Ile1583Ser)
c.4904T>G (p.Ile1635Ser)
 ClinVar
12g.51806358T>ACA479788071SCN8Ac.4872T>A (p.Ile1624=)
c.2936T>A
c.4749T>A (p.Ile1583=)
c.4905T>A (p.Ile1635=)
12g.51806358T>CCA479788073SCN8Ac.4872T>C (p.Ile1624=)
c.2936T>C
c.4749T>C (p.Ile1583=)
c.4905T>C (p.Ile1635=)
12g.51806358T>GCA384880416SCN8Ac.4872T>G (p.Ile1624Met)
c.2936T>G
c.4749T>G (p.Ile1583Met)
c.4905T>G (p.Ile1635Met)
12g.51806359G>ACA10586298SCN8Ac.4873G>A (p.Gly1625Arg)
c.2937G>A
c.4750G>A (p.Gly1584Arg)
c.4906G>A (p.Gly1636Arg)
 ClinVar dbSNP
12g.51806359G>CCA384880417SCN8Ac.4873G>C (p.Gly1625Arg)
c.2937G>C
c.4750G>C (p.Gly1584Arg)
c.4906G>C (p.Gly1636Arg)
12g.51806359G=CA2036192835SCN8Ac.4873G= (p.Gly1625=)
c.2937G=
c.4750G= (p.Gly1584=)
c.4906G= (p.Gly1636=)
12g.51806359G>TCA16606656SCN8Ac.4873G>T (p.Gly1625Trp)
c.2937G>T
c.4750G>T (p.Gly1584Trp)
c.4906G>T (p.Gly1636Trp)
 ClinVar dbSNP
12g.51806359_51806367dupCA2695216871SCN8Ac.4873_4881dup (p.Ile1627_Leu1628insGlyArgIle)
c.2937_2945dup
c.4750_4758dup (p.Ile1586_Leu1587insGlyArgIle)
c.4906_4914dup (p.Ile1638_Leu1639insGlyArgIle)
12g.51806360G>ACA384880418SCN8Ac.4874G>A (p.Gly1625Glu)
c.2938G>A
c.4751G>A (p.Gly1584Glu)
c.4907G>A (p.Gly1636Glu)
12g.51806360G>CCA384880419SCN8Ac.4874G>C (p.Gly1625Ala)
c.2938G>C
c.4751G>C (p.Gly1584Ala)
c.4907G>C (p.Gly1636Ala)
12g.51806360G>TCA384880420SCN8Ac.4874G>T (p.Gly1625Val)
c.2938G>T
c.4751G>T (p.Gly1584Val)
c.4907G>T (p.Gly1636Val)
12g.51806361G>ACA6571875SCN8Ac.4875G>A (p.Gly1625=)
c.2939G>A
c.4752G>A (p.Gly1584=)
c.4908G>A (p.Gly1636=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806361G>CCA479788080SCN8Ac.4875G>C (p.Gly1625=)
c.2939G>C
c.4752G>C (p.Gly1584=)
c.4908G>C (p.Gly1636=)
12g.51806361G=CA2036192843SCN8Ac.4875G= (p.Gly1625=)
c.2939G=
c.4752G= (p.Gly1584=)
c.4908G= (p.Gly1636=)
12g.51806361G>TCA479788082SCN8Ac.4875G>T (p.Gly1625=)
c.2939G>T
c.4752G>T (p.Gly1584=)
c.4908G>T (p.Gly1636=)
12g.51806362C>ACA384880421SCN8Ac.4876C>A (p.Arg1626Ser)
c.2940C>A
c.4753C>A (p.Arg1585Ser)
c.4909C>A (p.Arg1637Ser)
 gnomAD v4
12g.51806362C>GCA384880422SCN8Ac.4876C>G (p.Arg1626Gly)
c.2940C>G
c.4753C>G (p.Arg1585Gly)
c.4909C>G (p.Arg1637Gly)
12g.51806362C>TCA384880423SCN8Ac.4876C>T (p.Arg1626Cys)
c.2940C>T
c.4753C>T (p.Arg1585Cys)
c.4909C>T (p.Arg1637Cys)
 ClinVar dbSNP
12g.51806363G>ACA10606625SCN8Ac.4877G>A (p.Arg1626His)
c.2941G>A
c.4754G>A (p.Arg1585His)
c.4910G>A (p.Arg1637His)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
12g.51806363G>CCA384880424SCN8Ac.4877G>C (p.Arg1626Pro)
c.2941G>C
c.4754G>C (p.Arg1585Pro)
c.4910G>C (p.Arg1637Pro)
12g.51806363G=CA2036192853SCN8Ac.4877G= (p.Arg1626=)
c.2941G=
c.4754G= (p.Arg1585=)
c.4910G= (p.Arg1637=)
12g.51806363G>TCA384880425SCN8Ac.4877G>T (p.Arg1626Leu)
c.2941G>T
c.4754G>T (p.Arg1585Leu)
c.4910G>T (p.Arg1637Leu)
 ClinVar dbSNP
12g.51806364C>ACA479788087SCN8Ac.4878C>A (p.Arg1626=)
c.2942C>A
c.4755C>A (p.Arg1585=)
c.4911C>A (p.Arg1637=)
12g.51806364C>GCA479788088SCN8Ac.4878C>G (p.Arg1626=)
c.2942C>G
c.4755C>G (p.Arg1585=)
c.4911C>G (p.Arg1637=)
12g.51806364C>TCA479788089SCN8Ac.4878C>T (p.Arg1626=)
c.2942C>T
c.4755C>T (p.Arg1585=)
c.4911C>T (p.Arg1637=)
12g.51806365A=CA2036192866SCN8Ac.4879A= (p.Ile1627=)
c.2943A=
c.4756A= (p.Ile1586=)
c.4912A= (p.Ile1638=)
12g.51806365A>CCA384880426SCN8Ac.4879A>C (p.Ile1627Leu)
c.2943A>C
c.4756A>C (p.Ile1586Leu)
c.4912A>C (p.Ile1638Leu)
 ClinVar dbSNP
12g.51806365A>GCA384880427SCN8Ac.4879A>G (p.Ile1627Val)
c.2943A>G
c.4756A>G (p.Ile1586Val)
c.4912A>G (p.Ile1638Val)
12g.51806365A>TCA384880428SCN8Ac.4879A>T (p.Ile1627Phe)
c.2943A>T
c.4756A>T (p.Ile1586Phe)
c.4912A>T (p.Ile1638Phe)
12g.51806366T>ACA384880429SCN8Ac.4880T>A (p.Ile1627Asn)
c.2944T>A
c.4757T>A (p.Ile1586Asn)
c.4913T>A (p.Ile1638Asn)
 ClinVar dbSNP
12g.51806366T>CCA384880430SCN8Ac.4880T>C (p.Ile1627Thr)
c.2944T>C
c.4757T>C (p.Ile1586Thr)
c.4913T>C (p.Ile1638Thr)
 ClinVar
12g.51806366T>GCA384880431SCN8Ac.4880T>G (p.Ile1627Ser)
c.2944T>G
c.4757T>G (p.Ile1586Ser)
c.4913T>G (p.Ile1638Ser)
12g.51806366T=CA2036192873SCN8Ac.4880T= (p.Ile1627=)
c.2944T=
c.4757T= (p.Ile1586=)
c.4913T= (p.Ile1638=)
12g.51806367C>ACA479788090SCN8Ac.4881C>A (p.Ile1627=)
c.2945C>A
c.4758C>A (p.Ile1586=)
c.4914C>A (p.Ile1638=)
12g.51806367C=CA2036192879SCN8Ac.4881C= (p.Ile1627=)
c.2945C=
c.4758C= (p.Ile1586=)
c.4914C= (p.Ile1638=)
12g.51806367C>GCA384880432SCN8Ac.4881C>G (p.Ile1627Met)
c.2945C>G
c.4758C>G (p.Ile1586Met)
c.4914C>G (p.Ile1638Met)
12g.51806367C>TCA479788093SCN8Ac.4881C>T (p.Ile1627=)
c.2945C>T
c.4758C>T (p.Ile1586=)
c.4914C>T (p.Ile1638=)
 dbSNP
12g.51806368T>ACA384880434SCN8Ac.4882T>A (p.Leu1628Met)
c.2946T>A
c.4759T>A (p.Leu1587Met)
c.4915T>A (p.Leu1639Met)
12g.51806368T>CCA479788094SCN8Ac.4882T>C (p.Leu1628=)
c.2946T>C
c.4759T>C (p.Leu1587=)
c.4915T>C (p.Leu1639=)
12g.51806368T>GCA384880433SCN8Ac.4882T>G (p.Leu1628Val)
c.2946T>G
c.4759T>G (p.Leu1587Val)
c.4915T>G (p.Leu1639Val)
12g.51806369T>ACA384880435SCN8Ac.4883T>A (p.Leu1628Ter)
c.2947T>A
c.4760T>A (p.Leu1587Ter)
c.4916T>A (p.Leu1639Ter)
 dbSNP
12g.51806369T>CCA384880437SCN8Ac.4883T>C (p.Leu1628Ser)
c.2947T>C
c.4760T>C (p.Leu1587Ser)
c.4916T>C (p.Leu1639Ser)
 ClinVar dbSNP
12g.51806369T>GCA384880436SCN8Ac.4883T>G (p.Leu1628Trp)
c.2947T>G
c.4760T>G (p.Leu1587Trp)
c.4916T>G (p.Leu1639Trp)
 ClinVar dbSNP
12g.51806369T=CA2036192891SCN8Ac.4883T= (p.Leu1628=)
c.2947T=
c.4760T= (p.Leu1587=)
c.4916T= (p.Leu1639=)
12g.51806370G>ACA6571876SCN8Ac.4884G>A (p.Leu1628=)
c.2948G>A
c.4761G>A (p.Leu1587=)
c.4917G>A (p.Leu1639=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51806370G>CCA384880438SCN8Ac.4884G>C (p.Leu1628Phe)
c.2948G>C
c.4761G>C (p.Leu1587Phe)
c.4917G>C (p.Leu1639Phe)
12g.51806370G=CA2036192902SCN8Ac.4884G= (p.Leu1628=)
c.2948G=
c.4761G= (p.Leu1587=)
c.4917G= (p.Leu1639=)
12g.51806370G>TCA384880439SCN8Ac.4884G>T (p.Leu1628Phe)
c.2948G>T
c.4761G>T (p.Leu1587Phe)
c.4917G>T (p.Leu1639Phe)
12g.51806371C>ACA384880440SCN8Ac.4885C>A (p.Arg1629Ser)
c.2949C>A
c.4762C>A (p.Arg1588Ser)
c.4918C>A (p.Arg1640Ser)
12g.51806371C=CA2036192915SCN8Ac.4885C= (p.Arg1629=)
c.2949C=
c.4762C= (p.Arg1588=)
c.4918C= (p.Arg1640=)
12g.51806371C>GCA384880441SCN8Ac.4885C>G (p.Arg1629Gly)
c.2949C>G
c.4762C>G (p.Arg1588Gly)
c.4918C>G (p.Arg1640Gly)
12g.51806371C>TCA384880442SCN8Ac.4885C>T (p.Arg1629Cys)
c.2949C>T
c.4762C>T (p.Arg1588Cys)
c.4918C>T (p.Arg1640Cys)
 ClinVar dbSNP gnomAD v4
12g.51806372G>ACA6571877SCN8Ac.4886G>A (p.Arg1629His)
c.2950G>A
c.4763G>A (p.Arg1588His)
c.4919G>A (p.Arg1640His)
 ClinVar dbSNP ExAC
12g.51806372G>CCA384880443SCN8Ac.4886G>C (p.Arg1629Pro)
c.2950G>C
c.4763G>C (p.Arg1588Pro)
c.4919G>C (p.Arg1640Pro)
 ClinVar
12g.51806372G=CA2036192922SCN8Ac.4886G= (p.Arg1629=)
c.2950G=
c.4763G= (p.Arg1588=)
c.4919G= (p.Arg1640=)
12g.51806372G>TCA384880444SCN8Ac.4886G>T (p.Arg1629Leu)
c.2950G>T
c.4763G>T (p.Arg1588Leu)
c.4919G>T (p.Arg1640Leu)
12g.51806373T>ACA479788100SCN8Ac.4887T>A (p.Arg1629=)
c.2951T>A
c.4764T>A (p.Arg1588=)
c.4920T>A (p.Arg1640=)
12g.51806373T>CCA479788101SCN8Ac.4887T>C (p.Arg1629=)
c.2951T>C
c.4764T>C (p.Arg1588=)
c.4920T>C (p.Arg1640=)
12g.51806373T>GCA6571878SCN8Ac.4887T>G (p.Arg1629=)
c.2951T>G
c.4764T>G (p.Arg1588=)
c.4920T>G (p.Arg1640=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51806373T=CA2036192932SCN8Ac.4887T= (p.Arg1629=)
c.2951T=
c.4764T= (p.Arg1588=)
c.4920T= (p.Arg1640=)
12g.51806374C>ACA384880445SCN8Ac.4888C>A (p.Leu1630Met)
c.2952C>A
c.4765C>A (p.Leu1589Met)
c.4921C>A (p.Leu1641Met)
12g.51806374C>GCA384880446SCN8Ac.4888C>G (p.Leu1630Val)
c.2952C>G
c.4765C>G (p.Leu1589Val)
c.4921C>G (p.Leu1641Val)
12g.51806374C>TCA479788102SCN8Ac.4888C>T (p.Leu1630=)
c.2952C>T
c.4765C>T (p.Leu1589=)
c.4921C>T (p.Leu1641=)
12g.51806375T>ACA384880447SCN8Ac.4889T>A (p.Leu1630Gln)
c.2953T>A
c.4766T>A (p.Leu1589Gln)
c.4922T>A (p.Leu1641Gln)
12g.51806375T>CCA318288SCN8Ac.4889T>C (p.Leu1630Pro)
c.2953T>C
c.4766T>C (p.Leu1589Pro)
c.4922T>C (p.Leu1641Pro)
 ClinVar dbSNP
12g.51806375T>GCA384880448SCN8Ac.4889T>G (p.Leu1630Arg)
c.2953T>G
c.4766T>G (p.Leu1589Arg)
c.4922T>G (p.Leu1641Arg)
12g.51806375T=CA2036192935SCN8Ac.4889T= (p.Leu1630=)
c.2953T=
c.4766T= (p.Leu1589=)
c.4922T= (p.Leu1641=)
12g.51806376G>ACA479788105SCN8Ac.4890G>A (p.Leu1630=)
c.2954G>A
c.4767G>A (p.Leu1589=)
c.4923G>A (p.Leu1641=)
 dbSNP gnomAD v3 gnomAD v4
12g.51806376G>CCA479788106SCN8Ac.4890G>C (p.Leu1630=)
c.2954G>C
c.4767G>C (p.Leu1589=)
c.4923G>C (p.Leu1641=)
12g.51806376G=CA2036192939SCN8Ac.4890G= (p.Leu1630=)
c.2954G=
c.4767G= (p.Leu1589=)
c.4923G= (p.Leu1641=)
12g.51806376G>TCA479788104SCN8Ac.4890G>T (p.Leu1630=)
c.2954G>T
c.4767G>T (p.Leu1589=)
c.4923G>T (p.Leu1641=)
12g.51806377A>CCA384880449SCN8Ac.4891A>C (p.Ile1631Leu)
c.2955A>C
c.4768A>C (p.Ile1590Leu)
c.4924A>C (p.Ile1642Leu)
12g.51806377A>GCA384880450SCN8Ac.4891A>G (p.Ile1631Val)
c.2955A>G
c.4768A>G (p.Ile1590Val)
c.4924A>G (p.Ile1642Val)
12g.51806377A>TCA384880451SCN8Ac.4891A>T (p.Ile1631Phe)
c.2955A>T
c.4768A>T (p.Ile1590Phe)
c.4924A>T (p.Ile1642Phe)
12g.51806378T>ACA384880452SCN8Ac.4892T>A (p.Ile1631Asn)
c.2956T>A
c.4769T>A (p.Ile1590Asn)
c.4925T>A (p.Ile1642Asn)
 ClinVar dbSNP
12g.51806378T>CCA384880453SCN8Ac.4892T>C (p.Ile1631Thr)
c.2956T>C
c.4769T>C (p.Ile1590Thr)
c.4925T>C (p.Ile1642Thr)
 ClinVar dbSNP
12g.51806378T>GCA384880454SCN8Ac.4892T>G (p.Ile1631Ser)
c.2956T>G
c.4769T>G (p.Ile1590Ser)
c.4925T>G (p.Ile1642Ser)
12g.51806378T=CA2036192947SCN8Ac.4892T= (p.Ile1631=)
c.2956T=
c.4769T= (p.Ile1590=)
c.4925T= (p.Ile1642=)
12g.51806379C>ACA479788112SCN8Ac.4893C>A (p.Ile1631=)
c.2957C>A
c.4770C>A (p.Ile1590=)
c.4926C>A (p.Ile1642=)
12g.51806379C>GCA384880455SCN8Ac.4893C>G (p.Ile1631Met)
c.2957C>G
c.4770C>G (p.Ile1590Met)
c.4926C>G (p.Ile1642Met)
 COSMIC COSMIC
12g.51806379C>TCA479788111SCN8Ac.4893C>T (p.Ile1631=)
c.2957C>T
c.4770C>T (p.Ile1590=)
c.4926C>T (p.Ile1642=)
 gnomAD v4
12g.51806380A=CA2036192963SCN8Ac.4894A= (p.Lys1632=)
c.2958A=
c.4771A= (p.Lys1591=)
c.4927A= (p.Lys1643=)
12g.51806380A>CCA384880456SCN8Ac.4894A>C (p.Lys1632Gln)
c.2958A>C
c.4771A>C (p.Lys1591Gln)
c.4927A>C (p.Lys1643Gln)
12g.51806380A>GCA384880457SCN8Ac.4894A>G (p.Lys1632Glu)
c.2958A>G
c.4771A>G (p.Lys1591Glu)
c.4927A>G (p.Lys1643Glu)
12g.51806380A>TCA384880458SCN8Ac.4894A>T (p.Lys1632Ter)
c.2958A>T
c.4771A>T (p.Lys1591Ter)
c.4927A>T (p.Lys1643Ter)
 dbSNP
12g.51806381A>CCA384880460SCN8Ac.4895A>C (p.Lys1632Thr)
c.2959A>C
c.4772A>C (p.Lys1591Thr)
c.4928A>C (p.Lys1643Thr)
12g.51806381A>GCA384880461SCN8Ac.4895A>G (p.Lys1632Arg)
c.2959A>G
c.4772A>G (p.Lys1591Arg)
c.4928A>G (p.Lys1643Arg)
 gnomAD v4
12g.51806381A>TCA384880459SCN8Ac.4895A>T (p.Lys1632Ile)
c.2959A>T
c.4772A>T (p.Lys1591Ile)
c.4928A>T (p.Lys1643Ile)
12g.51806382A>CCA384880462SCN8Ac.4896A>C (p.Lys1632Asn)
c.2960A>C
c.4773A>C (p.Lys1591Asn)
c.4929A>C (p.Lys1643Asn)
12g.51806382A>GCA479788114SCN8Ac.4896A>G (p.Lys1632=)
c.2960A>G
c.4773A>G (p.Lys1591=)
c.4929A>G (p.Lys1643=)
12g.51806382A>TCA384880463SCN8Ac.4896A>T (p.Lys1632Asn)
c.2960A>T
c.4773A>T (p.Lys1591Asn)
c.4929A>T (p.Lys1643Asn)
 ClinVar

Number of alleles fetched