UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122261606_122261636del | CA2667224705 | CASR | c.571_601del (p.Glu191SerfsTer?) c.88_118del (p.Glu30SerfsTer?) c.-18_13del | gnomAD v4 |
| 3 | g.122261608G>A | CA2569511 | CASR | c.573G>A (p.Glu191=) c.90G>A (p.Glu30=) c.-16G>A (n.-16G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122261608G>C | CA354150874 | CASR | c.573G>C (p.Glu191Asp) c.90G>C (p.Glu30Asp) c.-16G>C (n.-16G>C) | |
| 3 | g.122261608G= | CA1397872905 | CASR | c.573G= (p.Glu191=) c.90G= (p.Glu30=) c.-16G= (n.-16G=) | |
| 3 | g.122261608G>T | CA354150875 | CASR | c.573G>T (p.Glu191Asp) c.90G>T (p.Glu30Asp) c.-16G>T (n.-16G>T) | |
| 3 | g.122261609C>A | CA354150876 | CASR | c.574C>A (p.His192Asn) c.91C>A (p.His31Asn) c.-15C>A (n.-15C>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261609C>G | CA354150877 | CASR | c.574C>G (p.His192Asp) c.91C>G (p.His31Asp) c.-15C>G (n.-15C>G) | |
| 3 | g.122261609C>T | CA354150878 | CASR | c.574C>T (p.His192Tyr) c.91C>T (p.His31Tyr) c.-15C>T (n.-15C>T) | |
| 3 | g.122261610A>C | CA354150879 | CASR | c.575A>C (p.His192Pro) c.92A>C (p.His31Pro) c.-14A>C (n.-14A>C) | |
| 3 | g.122261610A>G | CA354150880 | CASR | c.575A>G (p.His192Arg) c.92A>G (p.His31Arg) c.-14A>G (n.-14A>G) | |
| 3 | g.122261610A>T | CA354150881 | CASR | c.575A>T (p.His192Leu) c.92A>T (p.His31Leu) c.-14A>T (n.-14A>T) | |
| 3 | g.122261611C>A | CA354150882 | CASR | c.576C>A (p.His192Gln) c.93C>A (p.His31Gln) c.-13C>A (n.-13C>A) | |
| 3 | g.122261611C>G | CA354150883 | CASR | c.576C>G (p.His192Gln) c.93C>G (p.His31Gln) c.-13C>G (n.-13C>G) | ClinVar |
| 3 | g.122261611C>T | CA435424354 | CASR | c.576C>T (p.His192=) c.93C>T (p.His31=) c.-13C>T (n.-13C>T) | |
| 3 | g.122261612C>A | CA354150884 | CASR | c.577C>A (p.Gln193Lys) c.94C>A (p.Gln32Lys) c.-12C>A (n.-12C>A) | ClinVar gnomAD v4 |
| 3 | g.122261612C= | CA1397872907 | CASR | c.577C= (p.Gln193=) c.94C= (p.Gln32=) c.-12C= (n.-12C=) | |
| 3 | g.122261612C>G | CA354150885 | CASR | c.577C>G (p.Gln193Glu) c.94C>G (p.Gln32Glu) c.-12C>G (n.-12C>G) | |
| 3 | g.122261612C>T | CA16617814 | CASR | c.577C>T (p.Gln193Ter) c.94C>T (p.Gln32Ter) c.-12C>T (n.-12C>T) | ClinVar dbSNP |
| 3 | g.122261613A= | CA1397872909 | CASR | c.578A= (p.Gln193=) c.95A= (p.Gln32=) c.-11A= (n.-11A=) | |
| 3 | g.122261613A>C | CA354150886 | CASR | c.578A>C (p.Gln193Pro) c.95A>C (p.Gln32Pro) c.-11A>C (n.-11A>C) | |
| 3 | g.122261613A>G | CA354150887 | CASR | c.578A>G (p.Gln193Arg) c.95A>G (p.Gln32Arg) c.-11A>G (n.-11A>G) | |
| 3 | g.122261613A>T | CA354150888 | CASR | c.578A>T (p.Gln193Leu) c.95A>T (p.Gln32Leu) c.-11A>T (n.-11A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122261614G>A | CA82738262 | CASR | c.579G>A (p.Gln193=) c.96G>A (p.Gln32=) c.-10G>A (n.-10G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122261614G>C | CA354150889 | CASR | c.579G>C (p.Gln193His) c.96G>C (p.Gln32His) c.-10G>C (n.-10G>C) | |
| 3 | g.122261614G= | CA1397872912 | CASR | c.579G= (p.Gln193=) c.96G= (p.Gln32=) c.-10G= (n.-10G=) | |
| 3 | g.122261614G>T | CA354150890 | CASR | c.579G>T (p.Gln193His) c.96G>T (p.Gln32His) c.-10G>T (n.-10G>T) | |
| 3 | g.122261615G>A | CA354150893 | CASR | c.580G>A (p.Ala194Thr) c.97G>A (p.Ala33Thr) c.-9G>A (n.-9G>A) | |
| 3 | g.122261615G>C | CA354150892 | CASR | c.580G>C (p.Ala194Pro) c.97G>C (p.Ala33Pro) c.-9G>C (n.-9G>C) | |
| 3 | g.122261615G>T | CA354150891 | CASR | c.580G>T (p.Ala194Ser) c.97G>T (p.Ala33Ser) c.-9G>T (n.-9G>T) | ClinVar |
| 3 | g.122261615_122261616delinsCT | CA2580068631 | CASR | c.580_581delinsCT (p.Ala194Leu) c.97_98delinsCT (p.Ala33Leu) c.-9_-8delinsCT (n.-9_-8delinsCT) | ClinVar |
| 3 | g.122261616C>A | CA354150894 | CASR | c.581C>A (p.Ala194Asp) c.98C>A (p.Ala33Asp) c.-8C>A (n.-8C>A) | |
| 3 | g.122261616C>G | CA354150895 | CASR | c.581C>G (p.Ala194Gly) c.98C>G (p.Ala33Gly) c.-8C>G (n.-8C>G) | |
| 3 | g.122261616C>T | CA354150896 | CASR | c.581C>T (p.Ala194Val) c.98C>T (p.Ala33Val) c.-8C>T (n.-8C>T) | COSMIC |
| 3 | g.122261617del | CA2667224706 | CASR | c.582del (p.Thr195LeufsTer?) c.99del (p.Thr34LeufsTer?) c.-7del (n.-7del) | gnomAD v4 |
| 3 | g.122261617C>A | CA435424360 | CASR | c.582C>A (p.Ala194=) c.99C>A (p.Ala33=) c.-7C>A (n.-7C>A) | |
| 3 | g.122261617C>G | CA435424361 | CASR | c.582C>G (p.Ala194=) c.99C>G (p.Ala33=) c.-7C>G (n.-7C>G) | |
| 3 | g.122261617C>T | CA435424362 | CASR | c.582C>T (p.Ala194=) c.99C>T (p.Ala33=) c.-7C>T (n.-7C>T) | gnomAD v4 |
| 3 | g.122261618A= | CA1397872913 | CASR | c.583A= (p.Thr195=) c.100A= (p.Thr34=) c.-6A= (n.-6A=) | |
| 3 | g.122261618A>C | CA354150897 | CASR | c.583A>C (p.Thr195Pro) c.100A>C (p.Thr34Pro) c.-6A>C (n.-6A>C) | |
| 3 | g.122261618A>G | CA354150898 | CASR | c.583A>G (p.Thr195Ala) c.100A>G (p.Thr34Ala) c.-6A>G (n.-6A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122261618A>T | CA354150899 | CASR | c.583A>T (p.Thr195Ser) c.100A>T (p.Thr34Ser) c.-6A>T (n.-6A>T) | |
| 3 | g.122261619C>A | CA354150900 | CASR | c.584C>A (p.Thr195Asn) c.101C>A (p.Thr34Asn) c.-5C>A (n.-5C>A) | |
| 3 | g.122261619C= | CA1397872915 | CASR | c.584C= (p.Thr195=) c.101C= (p.Thr34=) c.-5C= (n.-5C=) | |
| 3 | g.122261619C>G | CA354150902 | CASR | c.584C>G (p.Thr195Ser) c.101C>G (p.Thr34Ser) c.-5C>G (n.-5C>G) | dbSNP |
| 3 | g.122261619C>T | CA354150901 | CASR | c.584C>T (p.Thr195Ile) c.101C>T (p.Thr34Ile) c.-5C>T (n.-5C>T) | |
| 3 | g.122261620T>A | CA435424367 | CASR | c.585T>A (p.Thr195=) c.102T>A (p.Thr34=) c.-4T>A (n.-4T>A) | |
| 3 | g.122261620T>C | CA435424366 | CASR | c.585T>C (p.Thr195=) c.102T>C (p.Thr34=) c.-4T>C (n.-4T>C) | |
| 3 | g.122261620T>G | CA435424369 | CASR | c.585T>G (p.Thr195=) c.102T>G (p.Thr34=) c.-4T>G (n.-4T>G) | |
| 3 | g.122261621G>A | CA354150903 | CASR | c.586G>A (p.Ala196Thr) c.103G>A (p.Ala35Thr) c.-3G>A (n.-3G>A) | COSMIC |
| 3 | g.122261621G>C | CA354150904 | CASR | c.586G>C (p.Ala196Pro) c.103G>C (p.Ala35Pro) c.-3G>C (n.-3G>C) | |
| 3 | g.122261621G>T | CA354150905 | CASR | c.586G>T (p.Ala196Ser) c.103G>T (p.Ala35Ser) c.-3G>T (n.-3G>T) | |
| 3 | g.122261622C>A | CA354150906 | CASR | c.587C>A (p.Ala196Asp) c.104C>A (p.Ala35Asp) c.-2C>A (n.-2C>A) | ClinVar dbSNP |
| 3 | g.122261622C= | CA1397872917 | CASR | c.587C= (p.Ala196=) c.104C= (p.Ala35=) c.-2C= (n.-2C=) | |
| 3 | g.122261622C>G | CA354150907 | CASR | c.587C>G (p.Ala196Gly) c.104C>G (p.Ala35Gly) c.-2C>G (n.-2C>G) | |
| 3 | g.122261622C>T | CA354150908 | CASR | c.587C>T (p.Ala196Val) c.104C>T (p.Ala35Val) c.-2C>T (n.-2C>T) | ClinVar dbSNP |
| 3 | g.122261623C>A | CA435424371 | CASR | c.588C>A (p.Ala196=) c.105C>A (p.Ala35=) c.-1C>A (n.-1C>A) | |
| 3 | g.122261623C= | CA1397872919 | CASR | c.588C= (p.Ala196=) c.105C= (p.Ala35=) c.-1C= (n.-1C=) | |
| 3 | g.122261623C>G | CA435424373 | CASR | c.588C>G (p.Ala196=) c.105C>G (p.Ala35=) c.-1C>G (n.-1C>G) | |
| 3 | g.122261623C>T | CA2569512 | CASR | c.588C>T (p.Ala196=) c.105C>T (p.Ala35=) c.-1C>T (n.-1C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122261624A>C | CA354150909 | CASR | c.589A>C (p.Met197Leu) c.106A>C (p.Met36Leu) c.1A>C (p.Met1Leu) | ClinVar |
| 3 | g.122261624A>G | CA354150910 | CASR | c.589A>G (p.Met197Val) c.106A>G (p.Met36Val) c.1A>G (p.Met1Val) | dbSNP |
| 3 | g.122261624A>T | CA354150911 | CASR | c.589A>T (p.Met197Leu) c.106A>T (p.Met36Leu) c.1A>T (p.Met1Leu) | |
| 3 | g.122261625T>A | CA354150912 | CASR | c.590T>A (p.Met197Lys) c.107T>A (p.Met36Lys) c.2T>A (p.Met1Lys) | ClinVar dbSNP |
| 3 | g.122261625T>C | CA82738267 | CASR | c.590T>C (p.Met197Thr) c.107T>C (p.Met36Thr) c.2T>C (p.Met1Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261625T>G | CA354150913 | CASR | c.590T>G (p.Met197Arg) c.107T>G (p.Met36Arg) c.2T>G (p.Met1Arg) | ClinVar dbSNP |
| 3 | g.122261625T= | CA1397872921 | CASR | c.590T= (p.Met197=) c.107T= (p.Met36=) c.2T= (p.Met1=) | |
| 3 | g.122261626G>A | CA354150915 | CASR | c.591G>A (p.Met197Ile) c.108G>A (p.Met36Ile) c.3G>A (p.Met1Ile) | ClinVar COSMIC |
| 3 | g.122261626G>C | CA354150916 | CASR | c.591G>C (p.Met197Ile) c.108G>C (p.Met36Ile) c.3G>C (p.Met1Ile) | |
| 3 | g.122261626G>T | CA354150914 | CASR | c.591G>T (p.Met197Ile) c.108G>T (p.Met36Ile) c.3G>T (p.Met1Ile) | |
| 3 | g.122261627G>A | CA354150919 | CASR | c.592G>A (p.Ala198Thr) c.109G>A (p.Ala37Thr) c.4G>A (p.Ala2Thr) | ClinVar |
| 3 | g.122261627G>C | CA354150917 | CASR | c.592G>C (p.Ala198Pro) c.109G>C (p.Ala37Pro) c.4G>C (p.Ala2Pro) | |
| 3 | g.122261627G>T | CA354150918 | CASR | c.592G>T (p.Ala198Ser) c.109G>T (p.Ala37Ser) c.4G>T (p.Ala2Ser) | |
| 3 | g.122261628C>A | CA354150920 | CASR | c.593C>A (p.Ala198Glu) c.110C>A (p.Ala37Glu) c.5C>A (p.Ala2Glu) | |
| 3 | g.122261628C>G | CA354150921 | CASR | c.593C>G (p.Ala198Gly) c.110C>G (p.Ala37Gly) c.5C>G (p.Ala2Gly) | |
| 3 | g.122261628C>T | CA354150922 | CASR | c.593C>T (p.Ala198Val) c.110C>T (p.Ala37Val) c.5C>T (p.Ala2Val) | COSMIC |
| 3 | g.122261629A= | CA1397872923 | CASR | c.594A= (p.Ala198=) c.111A= (p.Ala37=) c.6A= (p.Ala2=) | |
| 3 | g.122261629A>C | CA435424379 | CASR | c.594A>C (p.Ala198=) c.111A>C (p.Ala37=) c.6A>C (p.Ala2=) | |
| 3 | g.122261629A>G | CA435424380 | CASR | c.594A>G (p.Ala198=) c.111A>G (p.Ala37=) c.6A>G (p.Ala2=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122261629A>T | CA435424381 | CASR | c.594A>T (p.Ala198=) c.111A>T (p.Ala37=) c.6A>T (p.Ala2=) | |
| 3 | g.122261630G>A | CA354150923 | CASR | c.595G>A (p.Asp199Asn) c.112G>A (p.Asp38Asn) c.7G>A (p.Asp3Asn) | COSMIC |
| 3 | g.122261630G>C | CA354150924 | CASR | c.595G>C (p.Asp199His) c.112G>C (p.Asp38His) c.7G>C (p.Asp3His) | COSMIC |
| 3 | g.122261630G>T | CA354150925 | CASR | c.595G>T (p.Asp199Tyr) c.112G>T (p.Asp38Tyr) c.7G>T (p.Asp3Tyr) | |
| 3 | g.122261631A>C | CA354150926 | CASR | c.596A>C (p.Asp199Ala) c.113A>C (p.Asp38Ala) c.8A>C (p.Asp3Ala) | |
| 3 | g.122261631A>G | CA354150927 | CASR | c.596A>G (p.Asp199Gly) c.113A>G (p.Asp38Gly) c.8A>G (p.Asp3Gly) | |
| 3 | g.122261631A>T | CA354150928 | CASR | c.596A>T (p.Asp199Val) c.113A>T (p.Asp38Val) c.8A>T (p.Asp3Val) | ClinVar |
| 3 | g.122261632C>A | CA354150929 | CASR | c.597C>A (p.Asp199Glu) c.114C>A (p.Asp38Glu) c.9C>A (p.Asp3Glu) | |
| 3 | g.122261632C= | CA1397872924 | CASR | c.597C= (p.Asp199=) c.114C= (p.Asp38=) c.9C= (p.Asp3=) | |
| 3 | g.122261632C>G | CA354150930 | CASR | c.597C>G (p.Asp199Glu) c.114C>G (p.Asp38Glu) c.9C>G (p.Asp3Glu) | |
| 3 | g.122261632C>T | CA435424386 | CASR | c.597C>T (p.Asp199=) c.114C>T (p.Asp38=) c.9C>T (p.Asp3=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122261633A>C | CA354150933 | CASR | c.598A>C (p.Ile200Leu) c.115A>C (p.Ile39Leu) c.10A>C (p.Ile4Leu) | |
| 3 | g.122261633A>G | CA354150932 | CASR | c.598A>G (p.Ile200Val) c.115A>G (p.Ile39Val) c.10A>G (p.Ile4Val) | |
| 3 | g.122261633A>T | CA354150931 | CASR | c.598A>T (p.Ile200Phe) c.115A>T (p.Ile39Phe) c.10A>T (p.Ile4Phe) | |
| 3 | g.122261634T>A | CA354150934 | CASR | c.599T>A (p.Ile200Asn) c.116T>A (p.Ile39Asn) c.11T>A (p.Ile4Asn) | |
| 3 | g.122261634T>C | CA354150935 | CASR | c.599T>C (p.Ile200Thr) c.116T>C (p.Ile39Thr) c.11T>C (p.Ile4Thr) | |
| 3 | g.122261634T>G | CA354150936 | CASR | c.599T>G (p.Ile200Ser) c.116T>G (p.Ile39Ser) c.11T>G (p.Ile4Ser) | |
| 3 | g.122261635C>A | CA435424391 | CASR | c.600C>A (p.Ile200=) c.117C>A (p.Ile39=) c.12C>A (p.Ile4=) | |
| 3 | g.122261635C= | CA1397872926 | CASR | c.600C= (p.Ile200=) c.117C= (p.Ile39=) c.12C= (p.Ile4=) | |
| 3 | g.122261635C>G | CA354150937 | CASR | c.600C>G (p.Ile200Met) c.117C>G (p.Ile39Met) c.12C>G (p.Ile4Met) | |
| 3 | g.122261635C>T | CA435424393 | CASR | c.600C>T (p.Ile200=) c.117C>T (p.Ile39=) c.12C>T (p.Ile4=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122261636A>C | CA354150938 | CASR | c.601A>C (p.Ile201Leu) c.118A>C (p.Ile40Leu) c.13A>C (p.Ile5Leu) | |
| 3 | g.122261636A>G | CA354150939 | CASR | c.601A>G (p.Ile201Val) c.118A>G (p.Ile40Val) c.13A>G (p.Ile5Val) | gnomAD v4 |
| 3 | g.122261636A>T | CA354150940 | CASR | c.601A>T (p.Ile201Phe) c.118A>T (p.Ile40Phe) c.13A>T (p.Ile5Phe) | |
| 3 | g.122261637T>A | CA354150941 | CASR | c.602T>A (p.Ile201Asn) c.119T>A (p.Ile40Asn) c.14T>A (p.Ile5Asn) | |
| 3 | g.122261637T>C | CA354150942 | CASR | c.602T>C (p.Ile201Thr) c.119T>C (p.Ile40Thr) c.14T>C (p.Ile5Thr) | gnomAD v4 |
| 3 | g.122261637T>G | CA354150943 | CASR | c.602T>G (p.Ile201Ser) c.119T>G (p.Ile40Ser) c.14T>G (p.Ile5Ser) | |
| 3 | g.122261638C>A | CA435424188 | CASR | c.603C>A (p.Ile201=) c.120C>A (p.Ile40=) c.15C>A (p.Ile5=) | gnomAD v4 |
| 3 | g.122261638C= | CA1397872927 | CASR | c.603C= (p.Ile201=) c.120C= (p.Ile40=) c.15C= (p.Ile5=) | |
| 3 | g.122261638C>G | CA2569513 | CASR | c.603C>G (p.Ile201Met) c.120C>G (p.Ile40Met) c.15C>G (p.Ile5Met) | dbSNP ExAC gnomAD v2 |
| 3 | g.122261638C>T | CA435424189 | CASR | c.603C>T (p.Ile201=) c.120C>T (p.Ile40=) c.15C>T (p.Ile5=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122261639G>A | CA354150944 | CASR | c.604G>A (p.Glu202Lys) c.121G>A (p.Glu41Lys) c.16G>A (p.Glu6Lys) | ClinVar dbSNP |
| 3 | g.122261639G>C | CA354150945 | CASR | c.604G>C (p.Glu202Gln) c.121G>C (p.Glu41Gln) c.16G>C (p.Glu6Gln) | dbSNP gnomAD v2 |
| 3 | g.122261639G= | CA1397872929 | CASR | c.604G= (p.Glu202=) c.121G= (p.Glu41=) c.16G= (p.Glu6=) | |
| 3 | g.122261639G>T | CA354150946 | CASR | c.604G>T (p.Glu202Ter) c.121G>T (p.Glu41Ter) c.16G>T (p.Glu6Ter) | |
| 3 | g.122261640A>C | CA354150948 | CASR | c.605A>C (p.Glu202Ala) c.122A>C (p.Glu41Ala) c.17A>C (p.Glu6Ala) | |
| 3 | g.122261640A>G | CA354150949 | CASR | c.605A>G (p.Glu202Gly) c.122A>G (p.Glu41Gly) c.17A>G (p.Glu6Gly) | ClinVar |
| 3 | g.122261640A>T | CA354150947 | CASR | c.605A>T (p.Glu202Val) c.122A>T (p.Glu41Val) c.17A>T (p.Glu6Val) | |
| 3 | g.122261641G>A | CA435424190 | CASR | c.606G>A (p.Glu202=) c.123G>A (p.Glu41=) c.18G>A (p.Glu6=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122261641G>C | CA354150950 | CASR | c.606G>C (p.Glu202Asp) c.123G>C (p.Glu41Asp) c.18G>C (p.Glu6Asp) | |
| 3 | g.122261641G= | CA1397872931 | CASR | c.606G= (p.Glu202=) c.123G= (p.Glu41=) c.18G= (p.Glu6=) | |
| 3 | g.122261641G>T | CA354150951 | CASR | c.606G>T (p.Glu202Asp) c.123G>T (p.Glu41Asp) c.18G>T (p.Glu6Asp) | |
| 3 | g.122261642T>A | CA354150952 | CASR | c.607T>A (p.Tyr203Asn) c.124T>A (p.Tyr42Asn) c.19T>A (p.Tyr7Asn) | |
| 3 | g.122261642T>C | CA354150953 | CASR | c.607T>C (p.Tyr203His) c.124T>C (p.Tyr42His) c.19T>C (p.Tyr7His) | |
| 3 | g.122261642T>G | CA354150954 | CASR | c.607T>G (p.Tyr203Asp) c.124T>G (p.Tyr42Asp) c.19T>G (p.Tyr7Asp) | |
| 3 | g.122261643A>C | CA354150955 | CASR | c.608A>C (p.Tyr203Ser) c.125A>C (p.Tyr42Ser) c.20A>C (p.Tyr7Ser) | |
| 3 | g.122261643A>G | CA354150956 | CASR | c.608A>G (p.Tyr203Cys) c.125A>G (p.Tyr42Cys) c.20A>G (p.Tyr7Cys) | |
| 3 | g.122261643A>T | CA354150957 | CASR | c.608A>T (p.Tyr203Phe) c.125A>T (p.Tyr42Phe) c.20A>T (p.Tyr7Phe) | |
| 3 | g.122261644T>A | CA354150958 | CASR | c.609T>A (p.Tyr203Ter) c.126T>A (p.Tyr42Ter) c.21T>A (p.Tyr7Ter) | |
| 3 | g.122261644T>C | CA435424191 | CASR | c.609T>C (p.Tyr203=) c.126T>C (p.Tyr42=) c.21T>C (p.Tyr7=) | |
| 3 | g.122261644T>G | CA354150959 | CASR | c.609T>G (p.Tyr203Ter) c.126T>G (p.Tyr42Ter) c.21T>G (p.Tyr7Ter) | |
| 3 | g.122261646dup | CA2825001189 | CASR | c.611dup (p.Arg205ProfsTer11) c.128dup (p.Arg44ProfsTer11) c.23dup (p.Arg9ProfsTer11) | ClinVar |
| 3 | g.122261645T>A | CA16609439 | CASR | c.610T>A (p.Phe204Ile) c.127T>A (p.Phe43Ile) c.22T>A (p.Phe8Ile) | ClinVar dbSNP |
| 3 | g.122261645T>C | CA354150960 | CASR | c.610T>C (p.Phe204Leu) c.127T>C (p.Phe43Leu) c.22T>C (p.Phe8Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261645T>G | CA354150961 | CASR | c.610T>G (p.Phe204Val) c.127T>G (p.Phe43Val) c.22T>G (p.Phe8Val) | |
| 3 | g.122261645T= | CA1397872934 | CASR | c.610T= (p.Phe204=) c.127T= (p.Phe43=) c.22T= (p.Phe8=) | |
| 3 | g.122261646T>A | CA354150964 | CASR | c.611T>A (p.Phe204Tyr) c.128T>A (p.Phe43Tyr) c.23T>A (p.Phe8Tyr) | |
| 3 | g.122261646T>C | CA354150962 | CASR | c.611T>C (p.Phe204Ser) c.128T>C (p.Phe43Ser) c.23T>C (p.Phe8Ser) | |
| 3 | g.122261646T>G | CA354150963 | CASR | c.611T>G (p.Phe204Cys) c.128T>G (p.Phe43Cys) c.23T>G (p.Phe8Cys) | |
| 3 | g.122261647C>A | CA354150965 | CASR | c.612C>A (p.Phe204Leu) c.129C>A (p.Phe43Leu) c.24C>A (p.Phe8Leu) | |
| 3 | g.122261647C>G | CA354150966 | CASR | c.612C>G (p.Phe204Leu) c.129C>G (p.Phe43Leu) c.24C>G (p.Phe8Leu) | |
| 3 | g.122261647C>T | CA435424192 | CASR | c.612C>T (p.Phe204=) c.129C>T (p.Phe43=) c.24C>T (p.Phe8=) | gnomAD v4 COSMIC |
| 3 | g.122261648C>A | CA354150967 | CASR | c.613C>A (p.Arg205Ser) c.130C>A (p.Arg44Ser) c.25C>A (p.Arg9Ser) | |
| 3 | g.122261648C= | CA1397872936 | CASR | c.613C= (p.Arg205=) c.130C= (p.Arg44=) c.25C= (p.Arg9=) | |
| 3 | g.122261648C>G | CA354150968 | CASR | c.613C>G (p.Arg205Gly) c.130C>G (p.Arg44Gly) c.25C>G (p.Arg9Gly) | ClinVar dbSNP |
| 3 | g.122261648C>T | CA2569514 | CASR | c.613C>T (p.Arg205Cys) c.130C>T (p.Arg44Cys) c.25C>T (p.Arg9Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122261649G>A | CA2569515 | CASR | c.614G>A (p.Arg205His) c.131G>A (p.Arg44His) c.26G>A (p.Arg9His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122261649G>C | CA354150969 | CASR | c.614G>C (p.Arg205Pro) c.131G>C (p.Arg44Pro) c.26G>C (p.Arg9Pro) | ClinVar dbSNP |
| 3 | g.122261649G= | CA1397872939 | CASR | c.614G= (p.Arg205=) c.131G= (p.Arg44=) c.26G= (p.Arg9=) | |
| 3 | g.122261649G>T | CA354150970 | CASR | c.614G>T (p.Arg205Leu) c.131G>T (p.Arg44Leu) c.26G>T (p.Arg9Leu) | ClinVar dbSNP COSMIC |
| 3 | g.122261650C>A | CA435424193 | CASR | c.615C>A (p.Arg205=) c.132C>A (p.Arg44=) c.27C>A (p.Arg9=) | |
| 3 | g.122261650C>G | CA435424194 | CASR | c.615C>G (p.Arg205=) c.132C>G (p.Arg44=) c.27C>G (p.Arg9=) | |
| 3 | g.122261650C>T | CA435424195 | CASR | c.615C>T (p.Arg205=) c.132C>T (p.Arg44=) c.27C>T (p.Arg9=) | COSMIC |
| 3 | g.122261651T>A | CA354150971 | CASR | c.616T>A (p.Trp206Arg) c.133T>A (p.Trp45Arg) c.28T>A (p.Trp10Arg) | |
| 3 | g.122261651T>C | CA354150972 | CASR | c.616T>C (p.Trp206Arg) c.133T>C (p.Trp45Arg) c.28T>C (p.Trp10Arg) | |
| 3 | g.122261651T>G | CA354150973 | CASR | c.616T>G (p.Trp206Gly) c.133T>G (p.Trp45Gly) c.28T>G (p.Trp10Gly) | |
| 3 | g.122261652G>A | CA354150976 | CASR | c.617G>A (p.Trp206Ter) c.134G>A (p.Trp45Ter) c.29G>A (p.Trp10Ter) | COSMIC |
| 3 | g.122261652G>C | CA354150975 | CASR | c.617G>C (p.Trp206Ser) c.134G>C (p.Trp45Ser) c.29G>C (p.Trp10Ser) | |
| 3 | g.122261652G>T | CA354150974 | CASR | c.617G>T (p.Trp206Leu) c.134G>T (p.Trp45Leu) c.29G>T (p.Trp10Leu) | |
| 3 | g.122261653G>A | CA354150977 | CASR | c.618G>A (p.Trp206Ter) c.135G>A (p.Trp45Ter) c.30G>A (p.Trp10Ter) | |
| 3 | g.122261653G>C | CA354150979 | CASR | c.618G>C (p.Trp206Cys) c.135G>C (p.Trp45Cys) c.30G>C (p.Trp10Cys) | |
| 3 | g.122261653G>T | CA354150978 | CASR | c.618G>T (p.Trp206Cys) c.135G>T (p.Trp45Cys) c.30G>T (p.Trp10Cys) | |
| 3 | g.122261654A>C | CA354150980 | CASR | c.619A>C (p.Asn207His) c.136A>C (p.Asn46His) c.31A>C (p.Asn11His) | |
| 3 | g.122261654A>G | CA354150981 | CASR | c.619A>G (p.Asn207Asp) c.136A>G (p.Asn46Asp) c.31A>G (p.Asn11Asp) | |
| 3 | g.122261654A>T | CA354150982 | CASR | c.619A>T (p.Asn207Tyr) c.136A>T (p.Asn46Tyr) c.31A>T (p.Asn11Tyr) | |
| 3 | g.122261655A>C | CA354150983 | CASR | c.620A>C (p.Asn207Thr) c.137A>C (p.Asn46Thr) c.32A>C (p.Asn11Thr) | |
| 3 | g.122261655A>G | CA354150984 | CASR | c.620A>G (p.Asn207Ser) c.137A>G (p.Asn46Ser) c.32A>G (p.Asn11Ser) | |
| 3 | g.122261655A>T | CA354150985 | CASR | c.620A>T (p.Asn207Ile) c.137A>T (p.Asn46Ile) c.32A>T (p.Asn11Ile) | |
| 3 | g.122261656del | CA2740094558 | CASR | c.621del (p.Trp208GlyfsTer?) c.138del (p.Trp47GlyfsTer?) c.33del (p.Trp12GlyfsTer?) | ClinVar |
| 3 | g.122261656C>A | CA354150986 | CASR | c.621C>A (p.Asn207Lys) c.138C>A (p.Asn46Lys) c.33C>A (p.Asn11Lys) | ClinVar |
| 3 | g.122261656C>G | CA354150987 | CASR | c.621C>G (p.Asn207Lys) c.138C>G (p.Asn46Lys) c.33C>G (p.Asn11Lys) | |
| 3 | g.122261656C>T | CA435424196 | CASR | c.621C>T (p.Asn207=) c.138C>T (p.Asn46=) c.33C>T (p.Asn11=) | ClinVar dbSNP |
| 3 | g.122261657T>A | CA354150988 | CASR | c.622T>A (p.Trp208Arg) c.139T>A (p.Trp47Arg) c.34T>A (p.Trp12Arg) | gnomAD v4 |
| 3 | g.122261657T>C | CA354150989 | CASR | c.622T>C (p.Trp208Arg) c.139T>C (p.Trp47Arg) c.34T>C (p.Trp12Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122261657T>G | CA354150990 | CASR | c.622T>G (p.Trp208Gly) c.139T>G (p.Trp47Gly) c.34T>G (p.Trp12Gly) | |
| 3 | g.122261657T= | CA1397872942 | CASR | c.622T= (p.Trp208=) c.139T= (p.Trp47=) c.34T= (p.Trp12=) | |
| 3 | g.122261658G>A | CA354150993 | CASR | c.623G>A (p.Trp208Ter) c.140G>A (p.Trp47Ter) c.35G>A (p.Trp12Ter) | gnomAD v4 |
| 3 | g.122261658G>C | CA354150992 | CASR | c.623G>C (p.Trp208Ser) c.140G>C (p.Trp47Ser) c.35G>C (p.Trp12Ser) | ClinVar dbSNP |
| 3 | g.122261658G= | CA1397872943 | CASR | c.623G= (p.Trp208=) c.140G= (p.Trp47=) c.35G= (p.Trp12=) | |
| 3 | g.122261658G>T | CA354150991 | CASR | c.623G>T (p.Trp208Leu) c.140G>T (p.Trp47Leu) c.35G>T (p.Trp12Leu) | |
| 3 | g.122261659G>A | CA354150994 | CASR | c.624G>A (p.Trp208Ter) c.141G>A (p.Trp47Ter) c.36G>A (p.Trp12Ter) | |
| 3 | g.122261659G>C | CA354150995 | CASR | c.624G>C (p.Trp208Cys) c.141G>C (p.Trp47Cys) c.36G>C (p.Trp12Cys) | |
| 3 | g.122261659G>T | CA354150996 | CASR | c.624G>T (p.Trp208Cys) c.141G>T (p.Trp47Cys) c.36G>T (p.Trp12Cys) | ClinVar dbSNP |
| 3 | g.122261660G>A | CA354150997 | CASR | c.625G>A (p.Val209Met) c.142G>A (p.Val48Met) c.37G>A (p.Val13Met) | |
| 3 | g.122261660G>C | CA354150998 | CASR | c.625G>C (p.Val209Leu) c.142G>C (p.Val48Leu) c.37G>C (p.Val13Leu) | |
| 3 | g.122261660G>T | CA354150999 | CASR | c.625G>T (p.Val209Leu) c.142G>T (p.Val48Leu) c.37G>T (p.Val13Leu) | |
| 3 | g.122261661T>A | CA354151000 | CASR | c.626T>A (p.Val209Glu) c.143T>A (p.Val48Glu) c.38T>A (p.Val13Glu) | |
| 3 | g.122261661T>C | CA82738292 | CASR | c.626T>C (p.Val209Ala) c.143T>C (p.Val48Ala) c.38T>C (p.Val13Ala) | ClinVar dbSNP |
| 3 | g.122261661T>G | CA354151001 | CASR | c.626T>G (p.Val209Gly) c.143T>G (p.Val48Gly) c.38T>G (p.Val13Gly) | |
| 3 | g.122261661T= | CA1397872944 | CASR | c.626T= (p.Val209=) c.143T= (p.Val48=) c.38T= (p.Val13=) | |
| 3 | g.122261662G>A | CA435424199 | CASR | c.627G>A (p.Val209=) c.144G>A (p.Val48=) c.39G>A (p.Val13=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122261662G>C | CA435424198 | CASR | c.627G>C (p.Val209=) c.144G>C (p.Val48=) c.39G>C (p.Val13=) | |
| 3 | g.122261662G= | CA1397872945 | CASR | c.627G= (p.Val209=) c.144G= (p.Val48=) c.39G= (p.Val13=) | |
| 3 | g.122261662G>T | CA435424197 | CASR | c.627G>T (p.Val209=) c.144G>T (p.Val48=) c.39G>T (p.Val13=) | |
| 3 | g.122261663G>A | CA354151002 | CASR | c.628G>A (p.Gly210Ser) c.145G>A (p.Gly49Ser) c.40G>A (p.Gly14Ser) | |
| 3 | g.122261663G>C | CA354151003 | CASR | c.628G>C (p.Gly210Arg) c.145G>C (p.Gly49Arg) c.40G>C (p.Gly14Arg) | |
| 3 | g.122261663G>T | CA354151004 | CASR | c.628G>T (p.Gly210Cys) c.145G>T (p.Gly49Cys) c.40G>T (p.Gly14Cys) | ClinVar dbSNP |
| 3 | g.122261664G>A | CA82738297 | CASR | c.629G>A (p.Gly210Asp) c.146G>A (p.Gly49Asp) c.41G>A (p.Gly14Asp) | dbSNP |
| 3 | g.122261664G>C | CA354151006 | CASR | c.629G>C (p.Gly210Ala) c.146G>C (p.Gly49Ala) c.41G>C (p.Gly14Ala) | |
| 3 | g.122261664G= | CA1397872946 | CASR | c.629G= (p.Gly210=) c.146G= (p.Gly49=) c.41G= (p.Gly14=) | |
| 3 | g.122261664G>T | CA354151005 | CASR | c.629G>T (p.Gly210Val) c.146G>T (p.Gly49Val) c.41G>T (p.Gly14Val) | |
| 3 | g.122261665C>A | CA435424200 | CASR | c.630C>A (p.Gly210=) c.147C>A (p.Gly49=) c.42C>A (p.Gly14=) | ClinVar |
| 3 | g.122261665C= | CA1397872947 | CASR | c.630C= (p.Gly210=) c.147C= (p.Gly49=) c.42C= (p.Gly14=) | |
| 3 | g.122261665C>G | CA435424201 | CASR | c.630C>G (p.Gly210=) c.147C>G (p.Gly49=) c.42C>G (p.Gly14=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122261665C>T | CA435424202 | CASR | c.630C>T (p.Gly210=) c.147C>T (p.Gly49=) c.42C>T (p.Gly14=) | gnomAD v4 |
| 3 | g.122261666A>C | CA354151007 | CASR | c.631A>C (p.Thr211Pro) c.148A>C (p.Thr50Pro) c.43A>C (p.Thr15Pro) | |
| 3 | g.122261666A>G | CA354151008 | CASR | c.631A>G (p.Thr211Ala) c.148A>G (p.Thr50Ala) c.43A>G (p.Thr15Ala) | ClinVar |
| 3 | g.122261666A>T | CA354151009 | CASR | c.631A>T (p.Thr211Ser) c.148A>T (p.Thr50Ser) c.43A>T (p.Thr15Ser) | |
| 3 | g.122261667C>A | CA354151010 | CASR | c.632C>A (p.Thr211Lys) c.149C>A (p.Thr50Lys) c.44C>A (p.Thr15Lys) | |
| 3 | g.122261667C= | CA1397872949 | CASR | c.632C= (p.Thr211=) c.149C= (p.Thr50=) c.44C= (p.Thr15=) | |
| 3 | g.122261667C>G | CA354151011 | CASR | c.632C>G (p.Thr211Arg) c.149C>G (p.Thr50Arg) c.44C>G (p.Thr15Arg) | |
| 3 | g.122261667C>T | CA354151012 | CASR | c.632C>T (p.Thr211Ile) c.149C>T (p.Thr50Ile) c.44C>T (p.Thr15Ile) | ClinVar dbSNP |
| 3 | g.122261668A>C | CA435424205 | CASR | c.633A>C (p.Thr211=) c.150A>C (p.Thr50=) c.45A>C (p.Thr15=) | |
| 3 | g.122261668A>G | CA435424203 | CASR | c.633A>G (p.Thr211=) c.150A>G (p.Thr50=) c.45A>G (p.Thr15=) | ClinVar dbSNP |
| 3 | g.122261668A>T | CA435424204 | CASR | c.633A>T (p.Thr211=) c.150A>T (p.Thr50=) c.45A>T (p.Thr15=) | |
| 3 | g.122261669A= | CA1397872951 | CASR | c.634A= (p.Ile212=) c.151A= (p.Ile51=) c.46A= (p.Ile16=) | |
| 3 | g.122261669A>C | CA354151013 | CASR | c.634A>C (p.Ile212Leu) c.151A>C (p.Ile51Leu) c.46A>C (p.Ile16Leu) | |
| 3 | g.122261669A>G | CA354151014 | CASR | c.634A>G (p.Ile212Val) c.151A>G (p.Ile51Val) c.46A>G (p.Ile16Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261669A>T | CA354151015 | CASR | c.634A>T (p.Ile212Phe) c.151A>T (p.Ile51Phe) c.46A>T (p.Ile16Phe) | |
| 3 | g.122261670T>A | CA354151016 | CASR | c.635T>A (p.Ile212Asn) c.152T>A (p.Ile51Asn) c.47T>A (p.Ile16Asn) | |
| 3 | g.122261670T>C | CA354151017 | CASR | c.635T>C (p.Ile212Thr) c.152T>C (p.Ile51Thr) c.47T>C (p.Ile16Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261670T>G | CA354151018 | CASR | c.635T>G (p.Ile212Ser) c.152T>G (p.Ile51Ser) c.47T>G (p.Ile16Ser) | |
| 3 | g.122261670T= | CA1397872952 | CASR | c.635T= (p.Ile212=) c.152T= (p.Ile51=) c.47T= (p.Ile16=) | |
| 3 | g.122261671T>A | CA435424206 | CASR | c.636T>A (p.Ile212=) c.153T>A (p.Ile51=) c.48T>A (p.Ile16=) | |
| 3 | g.122261671T>C | CA435424207 | CASR | c.636T>C (p.Ile212=) c.153T>C (p.Ile51=) c.48T>C (p.Ile16=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122261671T>G | CA354151019 | CASR | c.636T>G (p.Ile212Met) c.153T>G (p.Ile51Met) c.48T>G (p.Ile16Met) | |
| 3 | g.122261671T= | CA1397872955 | CASR | c.636T= (p.Ile212=) c.153T= (p.Ile51=) c.48T= (p.Ile16=) | |
| 3 | g.122261672G>A | CA354151022 | CASR | c.637G>A (p.Ala213Thr) c.154G>A (p.Ala52Thr) c.49G>A (p.Ala17Thr) | |
| 3 | g.122261672G>C | CA354151020 | CASR | c.637G>C (p.Ala213Pro) c.154G>C (p.Ala52Pro) c.49G>C (p.Ala17Pro) | ClinVar |
| 3 | g.122261672G>T | CA354151021 | CASR | c.637G>T (p.Ala213Ser) c.154G>T (p.Ala52Ser) c.49G>T (p.Ala17Ser) | |
| 3 | g.122261673C>A | CA354151023 | CASR | c.638C>A (p.Ala213Glu) c.155C>A (p.Ala52Glu) c.50C>A (p.Ala17Glu) | |
| 3 | g.122261673C= | CA1397872957 | CASR | c.638C= (p.Ala213=) c.155C= (p.Ala52=) c.50C= (p.Ala17=) | |
| 3 | g.122261673C>G | CA354151024 | CASR | c.638C>G (p.Ala213Gly) c.155C>G (p.Ala52Gly) c.50C>G (p.Ala17Gly) | |
| 3 | g.122261673C>T | CA354151025 | CASR | c.638C>T (p.Ala213Val) c.155C>T (p.Ala52Val) c.50C>T (p.Ala17Val) | ClinVar dbSNP |
| 3 | g.122261674A>C | CA435424210 | CASR | c.639A>C (p.Ala213=) c.156A>C (p.Ala52=) c.51A>C (p.Ala17=) | |
| 3 | g.122261674A>G | CA435424208 | CASR | c.639A>G (p.Ala213=) c.156A>G (p.Ala52=) c.51A>G (p.Ala17=) | ClinVar gnomAD v4 |
| 3 | g.122261674A>T | CA435424209 | CASR | c.639A>T (p.Ala213=) c.156A>T (p.Ala52=) c.51A>T (p.Ala17=) | |
| 3 | g.122261675G>A | CA354151026 | CASR | c.640G>A (p.Ala214Thr) c.157G>A (p.Ala53Thr) c.52G>A (p.Ala18Thr) | ClinVar |
| 3 | g.122261675G>C | CA354151027 | CASR | c.640G>C (p.Ala214Pro) c.157G>C (p.Ala53Pro) c.52G>C (p.Ala18Pro) | |
| 3 | g.122261675G>T | CA354151028 | CASR | c.640G>T (p.Ala214Ser) c.157G>T (p.Ala53Ser) c.52G>T (p.Ala18Ser) | |
| 3 | g.122261676C>A | CA354151029 | CASR | c.641C>A (p.Ala214Asp) c.158C>A (p.Ala53Asp) c.53C>A (p.Ala18Asp) | |
| 3 | g.122261676C>G | CA354151030 | CASR | c.641C>G (p.Ala214Gly) c.158C>G (p.Ala53Gly) c.53C>G (p.Ala18Gly) | ClinVar |
| 3 | g.122261676C>T | CA354151031 | CASR | c.641C>T (p.Ala214Val) c.158C>T (p.Ala53Val) c.53C>T (p.Ala18Val) | |
| 3 | g.122261677T>A | CA435424211 | CASR | c.642T>A (p.Ala214=) c.159T>A (p.Ala53=) c.54T>A (p.Ala18=) | |
| 3 | g.122261677T>C | CA435424212 | CASR | c.642T>C (p.Ala214=) c.159T>C (p.Ala53=) c.54T>C (p.Ala18=) | |
| 3 | g.122261677T>G | CA435424213 | CASR | c.642T>G (p.Ala214=) c.159T>G (p.Ala53=) c.54T>G (p.Ala18=) | |
| 3 | g.122261678G>A | CA354151032 | CASR | c.643G>A (p.Asp215Asn) c.160G>A (p.Asp54Asn) c.55G>A (p.Asp19Asn) | ClinVar |
| 3 | g.122261678G>C | CA213604 | CASR | c.643G>C (p.Asp215His) c.160G>C (p.Asp54His) c.55G>C (p.Asp19His) | ClinVar dbSNP |
| 3 | g.122261678G= | CA1397872960 | CASR | c.643G= (p.Asp215=) c.160G= (p.Asp54=) c.55G= (p.Asp19=) | |
| 3 | g.122261678G>T | CA354151033 | CASR | c.643G>T (p.Asp215Tyr) c.160G>T (p.Asp54Tyr) c.55G>T (p.Asp19Tyr) | |
| 3 | g.122261679A>C | CA354151036 | CASR | c.644A>C (p.Asp215Ala) c.161A>C (p.Asp54Ala) c.56A>C (p.Asp19Ala) | |
| 3 | g.122261679A>G | CA354151035 | CASR | c.644A>G (p.Asp215Gly) c.161A>G (p.Asp54Gly) c.56A>G (p.Asp19Gly) | |
| 3 | g.122261679A>T | CA354151034 | CASR | c.644A>T (p.Asp215Val) c.161A>T (p.Asp54Val) c.56A>T (p.Asp19Val) | |
| 3 | g.122261680T>A | CA354151037 | CASR | c.645T>A (p.Asp215Glu) c.162T>A (p.Asp54Glu) c.57T>A (p.Asp19Glu) | |
| 3 | g.122261680T>C | CA435424214 | CASR | c.645T>C (p.Asp215=) c.162T>C (p.Asp54=) c.57T>C (p.Asp19=) | |
| 3 | g.122261680T>G | CA354151038 | CASR | c.645T>G (p.Asp215Glu) c.162T>G (p.Asp54Glu) c.57T>G (p.Asp19Glu) | |
| 3 | g.122261681G>A | CA2569516 | CASR | c.646G>A (p.Asp216Asn) c.163G>A (p.Asp55Asn) c.58G>A (p.Asp20Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122261681G>C | CA354151040 | CASR | c.646G>C (p.Asp216His) c.163G>C (p.Asp55His) c.58G>C (p.Asp20His) | |
| 3 | g.122261681G= | CA1397872965 | CASR | c.646G= (p.Asp216=) c.163G= (p.Asp55=) c.58G= (p.Asp20=) | |
| 3 | g.122261681G>T | CA354151039 | CASR | c.646G>T (p.Asp216Tyr) c.163G>T (p.Asp55Tyr) c.58G>T (p.Asp20Tyr) | |
| 3 | g.122261682A= | CA1397872967 | CASR | c.647A= (p.Asp216=) c.164A= (p.Asp55=) c.59A= (p.Asp20=) | |
| 3 | g.122261682A>C | CA354151041 | CASR | c.647A>C (p.Asp216Ala) c.164A>C (p.Asp55Ala) c.59A>C (p.Asp20Ala) | |
| 3 | g.122261682A>G | CA354151043 | CASR | c.647A>G (p.Asp216Gly) c.164A>G (p.Asp55Gly) c.59A>G (p.Asp20Gly) | |
| 3 | g.122261682A>T | CA354151042 | CASR | c.647A>T (p.Asp216Val) c.164A>T (p.Asp55Val) c.59A>T (p.Asp20Val) | dbSNP |
| 3 | g.122261683C>A | CA354151044 | CASR | c.648C>A (p.Asp216Glu) c.165C>A (p.Asp55Glu) c.60C>A (p.Asp20Glu) | |
| 3 | g.122261683C= | CA1397872969 | CASR | c.648C= (p.Asp216=) c.165C= (p.Asp55=) c.60C= (p.Asp20=) | |
| 3 | g.122261683C>G | CA354151045 | CASR | c.648C>G (p.Asp216Glu) c.165C>G (p.Asp55Glu) c.60C>G (p.Asp20Glu) | |
| 3 | g.122261683C>T | CA2569517 | CASR | c.648C>T (p.Asp216=) c.165C>T (p.Asp55=) c.60C>T (p.Asp20=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122261684G>A | CA2569518 | CASR | c.649G>A (p.Asp217Asn) c.166G>A (p.Asp56Asn) c.61G>A (p.Asp21Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122261684G>C | CA354151046 | CASR | c.649G>C (p.Asp217His) c.166G>C (p.Asp56His) c.61G>C (p.Asp21His) | |
| 3 | g.122261684G= | CA1397872974 | CASR | c.649G= (p.Asp217=) c.166G= (p.Asp56=) c.61G= (p.Asp21=) | |
| 3 | g.122261684G>T | CA354151047 | CASR | c.649G>T (p.Asp217Tyr) c.166G>T (p.Asp56Tyr) c.61G>T (p.Asp21Tyr) | ClinVar dbSNP |
| 3 | g.122261685A= | CA1397872976 | CASR | c.650A= (p.Asp217=) c.167A= (p.Asp56=) c.62A= (p.Asp21=) | |
| 3 | g.122261685A>C | CA354151048 | CASR | c.650A>C (p.Asp217Ala) c.167A>C (p.Asp56Ala) c.62A>C (p.Asp21Ala) | |
| 3 | g.122261685A>G | CA10602862 | CASR | c.650A>G (p.Asp217Gly) c.167A>G (p.Asp56Gly) c.62A>G (p.Asp21Gly) | ClinVar dbSNP COSMIC |
| 3 | g.122261685A>T | CA354151049 | CASR | c.650A>T (p.Asp217Val) c.167A>T (p.Asp56Val) c.62A>T (p.Asp21Val) | |
| 3 | g.122261686C>A | CA354151050 | CASR | c.651C>A (p.Asp217Glu) c.168C>A (p.Asp56Glu) c.63C>A (p.Asp21Glu) | |
| 3 | g.122261686C>G | CA354151051 | CASR | c.651C>G (p.Asp217Glu) c.168C>G (p.Asp56Glu) c.63C>G (p.Asp21Glu) | |
| 3 | g.122261686C>T | CA435424215 | CASR | c.651C>T (p.Asp217=) c.168C>T (p.Asp56=) c.63C>T (p.Asp21=) | ClinVar dbSNP |
| 3 | g.122261687T>A | CA354151053 | CASR | c.652T>A (p.Tyr218Asn) c.169T>A (p.Tyr57Asn) c.64T>A (p.Tyr22Asn) | ClinVar |
| 3 | g.122261687T>C | CA354151052 | CASR | c.652T>C (p.Tyr218His) c.169T>C (p.Tyr57His) c.64T>C (p.Tyr22His) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261687T>G | CA16604347 | CASR | c.652T>G (p.Tyr218Asp) c.169T>G (p.Tyr57Asp) c.64T>G (p.Tyr22Asp) | ClinVar dbSNP |
| 3 | g.122261687T= | CA1397872979 | CASR | c.652T= (p.Tyr218=) c.169T= (p.Tyr57=) c.64T= (p.Tyr22=) | |
| 3 | g.122261688A= | CA1397872981 | CASR | c.653A= (p.Tyr218=) c.170A= (p.Tyr57=) c.65A= (p.Tyr22=) | |
| 3 | g.122261688A>C | CA354151054 | CASR | c.653A>C (p.Tyr218Ser) c.170A>C (p.Tyr57Ser) c.65A>C (p.Tyr22Ser) | |
| 3 | g.122261688A>G | CA354151055 | CASR | c.653A>G (p.Tyr218Cys) c.170A>G (p.Tyr57Cys) c.65A>G (p.Tyr22Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261688A>T | CA354151056 | CASR | c.653A>T (p.Tyr218Phe) c.170A>T (p.Tyr57Phe) c.65A>T (p.Tyr22Phe) | |
| 3 | g.122261689T>A | CA354151057 | CASR | c.654T>A (p.Tyr218Ter) c.171T>A (p.Tyr57Ter) c.66T>A (p.Tyr22Ter) | |
| 3 | g.122261689T>C | CA435424216 | CASR | c.654T>C (p.Tyr218=) c.171T>C (p.Tyr57=) c.66T>C (p.Tyr22=) | ClinVar dbSNP |
| 3 | g.122261689T>G | CA354151058 | CASR | c.654T>G (p.Tyr218Ter) c.171T>G (p.Tyr57Ter) c.66T>G (p.Tyr22Ter) | |
| 3 | g.122261689T= | CA1397872984 | CASR | c.654T= (p.Tyr218=) c.171T= (p.Tyr57=) c.66T= (p.Tyr22=) | |
| 3 | g.122261690G>A | CA354151059 | CASR | c.655G>A (p.Gly219Arg) c.172G>A (p.Gly58Arg) c.67G>A (p.Gly23Arg) | |
| 3 | g.122261690G>C | CA354151060 | CASR | c.655G>C (p.Gly219Arg) c.172G>C (p.Gly58Arg) c.67G>C (p.Gly23Arg) | |
| 3 | g.122261690G>T | CA354151061 | CASR | c.655G>T (p.Gly219Trp) c.172G>T (p.Gly58Trp) c.67G>T (p.Gly23Trp) | ClinVar dbSNP |
| 3 | g.122261691G>A | CA354151062 | CASR | c.656G>A (p.Gly219Glu) c.173G>A (p.Gly58Glu) c.68G>A (p.Gly23Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122261691G>C | CA354151063 | CASR | c.656G>C (p.Gly219Ala) c.173G>C (p.Gly58Ala) c.68G>C (p.Gly23Ala) | |
| 3 | g.122261691G= | CA1397872987 | CASR | c.656G= (p.Gly219=) c.173G= (p.Gly58=) c.68G= (p.Gly23=) | |
| 3 | g.122261691G>T | CA354151064 | CASR | c.656G>T (p.Gly219Val) c.173G>T (p.Gly58Val) c.68G>T (p.Gly23Val) | |
| 3 | g.122261692G>A | CA2569519 | CASR | c.657G>A (p.Gly219=) c.174G>A (p.Gly58=) c.69G>A (p.Gly23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122261692G>C | CA435424217 | CASR | c.657G>C (p.Gly219=) c.174G>C (p.Gly58=) c.69G>C (p.Gly23=) | |
| 3 | g.122261692G= | CA1397872989 | CASR | c.657G= (p.Gly219=) c.174G= (p.Gly58=) c.69G= (p.Gly23=) | |
| 3 | g.122261692G>T | CA435424218 | CASR | c.657G>T (p.Gly219=) c.174G>T (p.Gly58=) c.69G>T (p.Gly23=) | ClinVar |
| 3 | g.122261693C>A | CA435424219 | CASR | c.658C>A (p.Arg220=) c.175C>A (p.Arg59=) c.70C>A (p.Arg24=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122261693C= | CA1397872993 | CASR | c.658C= (p.Arg220=) c.175C= (p.Arg59=) c.70C= (p.Arg24=) | |
| 3 | g.122261693C>G | CA354151066 | CASR | c.658C>G (p.Arg220Gly) c.175C>G (p.Arg59Gly) c.70C>G (p.Arg24Gly) | |
| 3 | g.122261693C>T | CA354151065 | CASR | c.658C>T (p.Arg220Trp) c.175C>T (p.Arg59Trp) c.70C>T (p.Arg24Trp) | ClinVar dbSNP gnomAD v2 COSMIC |
| 3 | g.122261694G>A | CA354151067 | CASR | c.659G>A (p.Arg220Gln) c.176G>A (p.Arg59Gln) c.71G>A (p.Arg24Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122261694G>C | CA354151068 | CASR | c.659G>C (p.Arg220Pro) c.176G>C (p.Arg59Pro) c.71G>C (p.Arg24Pro) | ClinVar |
| 3 | g.122261694G= | CA1397872996 | CASR | c.659G= (p.Arg220=) c.176G= (p.Arg59=) c.71G= (p.Arg24=) | |
| 3 | g.122261694G>T | CA354151069 | CASR | c.659G>T (p.Arg220Leu) c.176G>T (p.Arg59Leu) c.71G>T (p.Arg24Leu) | |
| 3 | g.122261695G>A | CA435424220 | CASR | c.660G>A (p.Arg220=) c.177G>A (p.Arg59=) c.72G>A (p.Arg24=) | |
| 3 | g.122261695G>C | CA435424222 | CASR | c.660G>C (p.Arg220=) c.177G>C (p.Arg59=) c.72G>C (p.Arg24=) | |
| 3 | g.122261695G>T | CA435424221 | CASR | c.660G>T (p.Arg220=) c.177G>T (p.Arg59=) c.72G>T (p.Arg24=) | ClinVar gnomAD v4 |
| 3 | g.122261696C>A | CA354151070 | CASR | c.661C>A (p.Pro221Thr) c.178C>A (p.Pro60Thr) c.73C>A (p.Pro25Thr) | |
| 3 | g.122261696C>G | CA354151071 | CASR | c.661C>G (p.Pro221Ala) c.178C>G (p.Pro60Ala) c.73C>G (p.Pro25Ala) | |
| 3 | g.122261696C>T | CA354151072 | CASR | c.661C>T (p.Pro221Ser) c.178C>T (p.Pro60Ser) c.73C>T (p.Pro25Ser) | ClinVar |
| 3 | g.122261697C>A | CA144611 | CASR | c.662C>A (p.Pro221Gln) c.179C>A (p.Pro60Gln) c.74C>A (p.Pro25Gln) | ClinVar dbSNP |
| 3 | g.122261697C= | CA1397872999 | CASR | c.662C= (p.Pro221=) c.179C= (p.Pro60=) c.74C= (p.Pro25=) | |
| 3 | g.122261697C>G | CA354151073 | CASR | c.662C>G (p.Pro221Arg) c.179C>G (p.Pro60Arg) c.74C>G (p.Pro25Arg) | |
| 3 | g.122261697C>T | CA144609 | CASR | c.662C>T (p.Pro221Leu) c.179C>T (p.Pro60Leu) c.74C>T (p.Pro25Leu) | ClinVar dbSNP |
| 3 | g.122261698G>A | CA435424223 | CASR | c.663G>A (p.Pro221=) c.180G>A (p.Pro60=) c.75G>A (p.Pro25=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122261698G>C | CA2569520 | CASR | c.663G>C (p.Pro221=) c.180G>C (p.Pro60=) c.75G>C (p.Pro25=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122261698G= | CA1397873002 | CASR | c.663G= (p.Pro221=) c.180G= (p.Pro60=) c.75G= (p.Pro25=) | |
| 3 | g.122261698G>T | CA435424224 | CASR | c.663G>T (p.Pro221=) c.180G>T (p.Pro60=) c.75G>T (p.Pro25=) | |
| 3 | g.122261701del | CA645532161 | CASR | c.666del (p.Ile223LeufsTer?) c.183del (p.Ile62LeufsTer?) c.78del (p.Ile27LeufsTer?) | ClinVar dbSNP COSMIC |
| 3 | g.122261699G>A | CA354151076 | CASR | c.664G>A (p.Gly222Arg) c.181G>A (p.Gly61Arg) c.76G>A (p.Gly26Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261699G>C | CA354151075 | CASR | c.664G>C (p.Gly222Arg) c.181G>C (p.Gly61Arg) c.76G>C (p.Gly26Arg) | |
| 3 | g.122261699G>T | CA354151074 | CASR | c.664G>T (p.Gly222Trp) c.181G>T (p.Gly61Trp) c.76G>T (p.Gly26Trp) | |
| 3 | g.122261700G>A | CA354151077 | CASR | c.665G>A (p.Gly222Glu) c.182G>A (p.Gly61Glu) c.77G>A (p.Gly26Glu) | ClinVar |
| 3 | g.122261700G>C | CA354151078 | CASR | c.665G>C (p.Gly222Ala) c.182G>C (p.Gly61Ala) c.77G>C (p.Gly26Ala) | |
| 3 | g.122261700G>T | CA354151079 | CASR | c.665G>T (p.Gly222Val) c.182G>T (p.Gly61Val) c.77G>T (p.Gly26Val) | |
| 3 | g.122261701G>A | CA435424225 | CASR | c.666G>A (p.Gly222=) c.183G>A (p.Gly61=) c.78G>A (p.Gly26=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122261701G>C | CA435424226 | CASR | c.666G>C (p.Gly222=) c.183G>C (p.Gly61=) c.78G>C (p.Gly26=) | |
| 3 | g.122261701G>T | CA435424227 | CASR | c.666G>T (p.Gly222=) c.183G>T (p.Gly61=) c.78G>T (p.Gly26=) | gnomAD v4 |
| 3 | g.122261702A>C | CA354151080 | CASR | c.667A>C (p.Ile223Leu) c.184A>C (p.Ile62Leu) c.79A>C (p.Ile27Leu) | |
| 3 | g.122261702A>G | CA354151081 | CASR | c.667A>G (p.Ile223Val) c.184A>G (p.Ile62Val) c.79A>G (p.Ile27Val) | |
| 3 | g.122261702A>T | CA354151082 | CASR | c.667A>T (p.Ile223Phe) c.184A>T (p.Ile62Phe) c.79A>T (p.Ile27Phe) | |
| 3 | g.122261703T>A | CA354151083 | CASR | c.668T>A (p.Ile223Asn) c.185T>A (p.Ile62Asn) c.80T>A (p.Ile27Asn) | |
| 3 | g.122261703T>C | CA354151084 | CASR | c.668T>C (p.Ile223Thr) c.185T>C (p.Ile62Thr) c.80T>C (p.Ile27Thr) | dbSNP |
| 3 | g.122261703T>G | CA354151085 | CASR | c.668T>G (p.Ile223Ser) c.185T>G (p.Ile62Ser) c.80T>G (p.Ile27Ser) | |
| 3 | g.122261703T= | CA1397873004 | CASR | c.668T= (p.Ile223=) c.185T= (p.Ile62=) c.80T= (p.Ile27=) | |
| 3 | g.122261704T>A | CA435424228 | CASR | c.669T>A (p.Ile223=) c.186T>A (p.Ile62=) c.81T>A (p.Ile27=) | |
| 3 | g.122261704T>C | CA435424229 | CASR | c.669T>C (p.Ile223=) c.186T>C (p.Ile62=) c.81T>C (p.Ile27=) | |
| 3 | g.122261704T>G | CA354151086 | CASR | c.669T>G (p.Ile223Met) c.186T>G (p.Ile62Met) c.81T>G (p.Ile27Met) | |
| 3 | g.122261705G>A | CA354151087 | CASR | c.670G>A (p.Glu224Lys) c.187G>A (p.Glu63Lys) c.82G>A (p.Glu28Lys) | |
| 3 | g.122261705G>C | CA354151088 | CASR | c.670G>C (p.Glu224Gln) c.187G>C (p.Glu63Gln) c.82G>C (p.Glu28Gln) | |
| 3 | g.122261705G>T | CA354151089 | CASR | c.670G>T (p.Glu224Ter) c.187G>T (p.Glu63Ter) c.82G>T (p.Glu28Ter) | |
| 3 | g.122261706A>C | CA354151091 | CASR | c.671A>C (p.Glu224Ala) c.188A>C (p.Glu63Ala) c.83A>C (p.Glu28Ala) | |
| 3 | g.122261706A>G | CA354151092 | CASR | c.671A>G (p.Glu224Gly) c.188A>G (p.Glu63Gly) c.83A>G (p.Glu28Gly) | |
| 3 | g.122261706A>T | CA354151090 | CASR | c.671A>T (p.Glu224Val) c.188A>T (p.Glu63Val) c.83A>T (p.Glu28Val) | |
| 3 | g.122261707G>A | CA435424230 | CASR | c.672G>A (p.Glu224=) c.189G>A (p.Glu63=) c.84G>A (p.Glu28=) | |
| 3 | g.122261707G>C | CA354151094 | CASR | c.672G>C (p.Glu224Asp) c.189G>C (p.Glu63Asp) c.84G>C (p.Glu28Asp) | ClinVar |
| 3 | g.122261707G>T | CA354151093 | CASR | c.672G>T (p.Glu224Asp) c.189G>T (p.Glu63Asp) c.84G>T (p.Glu28Asp) | |
| 3 | g.122261708A>C | CA354151095 | CASR | c.673A>C (p.Lys225Gln) c.190A>C (p.Lys64Gln) c.85A>C (p.Lys29Gln) | |
| 3 | g.122261708A>G | CA354151096 | CASR | c.673A>G (p.Lys225Glu) c.190A>G (p.Lys64Glu) c.85A>G (p.Lys29Glu) | |
| 3 | g.122261708A>T | CA354151097 | CASR | c.673A>T (p.Lys225Ter) c.190A>T (p.Lys64Ter) c.85A>T (p.Lys29Ter) |