| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122261606G>A | CA119491 | CASR | c.571G>A (p.Glu191Lys) c.88G>A (p.Glu30Lys) c.-18G>A (n.-18G>A) | ClinVar dbSNP |
| 3 | g.122261606G>C | CA354150870 | CASR | c.571G>C (p.Glu191Gln) c.88G>C (p.Glu30Gln) c.-18G>C (n.-18G>C) | |
| 3 | g.122261606G= | CA1397872899 | CASR | c.571G= (p.Glu191=) c.88G= (p.Glu30=) c.-18G= (n.-18G=) | |
| 3 | g.122261606G>T | CA354150871 | CASR | c.571G>T (p.Glu191Ter) c.88G>T (p.Glu30Ter) c.-18G>T (n.-18G>T) | |
| 3 | g.122261606_122261636del | CA2667224705 | CASR | c.571_601del (p.Glu191SerfsTer?) c.88_118del (p.Glu30SerfsTer?) c.-18_13del | gnomAD v4 |
| 3 | g.122261607A= | CA1397872902 | CASR | c.572A= (p.Glu191=) c.89A= (p.Glu30=) c.-17A= (n.-17A=) | |
| 3 | g.122261607A>C | CA354150873 | CASR | c.572A>C (p.Glu191Ala) c.89A>C (p.Glu30Ala) c.-17A>C (n.-17A>C) | |
| 3 | g.122261607A>G | CA2569510 | CASR | c.572A>G (p.Glu191Gly) c.89A>G (p.Glu30Gly) c.-17A>G (n.-17A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122261607A>T | CA354150872 | CASR | c.572A>T (p.Glu191Val) c.89A>T (p.Glu30Val) c.-17A>T (n.-17A>T) | |
| 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) |