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.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 |