Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.91234215_91234665delinsCAGTTGAAGCTGGTGAGCAGGAGGGAGAAGTGGTAGGCGTTGAAAACGCCCTTGGCGAAGTCGCAGCTGGCCTCCCAGACGCTGCGCACCAGCAGCAACACGTGGTAGGGCAGGAAGCAGGCCAGGAAGATGACCACGGTGCTGAGCACCAGCCGCTGGATCTGGTCCTTGCGGCTCTTCTGGGTGCCGTGGCTCCGGCGCACGGCGCGCAGGATGCCCTGGTAGGACGCCAGCAGCAGGCAGATGGGGAAGAGGAAGCCCACCAGGAAGCGGTAGTAGTTGATGGCGCGCTGCCATGCCTGGATGGGGTAGTGCTCAAAGCACACGCGGTGCTGGTTCTCGTCCTCGATGACCTCCTCGTGCATCAGGAAGTAGATGCTGGTCAGCAGCTCCTTGGCCCAGATGACCACGCTGACGCCGACGGCCGCCTTCAGGGTCCGGAACTGGTGGA | CA2154863013 | GPR68 | c.386_836delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG (p.Phe129=) c.416_866delinsTCCACCAGTTCCGGACCCTGAAGGCGGCCGTCGGCGTCAGCGTGGTCATCTGGGCCAAGGAGCTGCTGACCAGCATCTACTTCCTGATGCACGAGGAGGTCATCGAGGACGAGAACCAGCACCGCGTGTGCTTTGAGCACTACCCCATCCAGGCATGGCAGCGCGCCATCAACTACTACCGCTTCCTGGTGGGCTTCCTCTTCCCCATCTGCCTGCTGCTGGCGTCCTACCAGGGCATCCTGCGCGCCGTGCGCCGGAGCCACGGCACCCAGAAGAGCCGCAAGGACCAGATCCAGCGGCTGGTGCTCAGCACCGTGGTCATCTTCCTGGCCTGCTTCCTGCCCTACCACGTGTTGCTGCTGGTGCGCAGCGTCTGGGAGGCCAGCTGCGACTTCGCCAAGGGCGTTTTCAACGCCTACCACTTCTCCCTCCTGCTCACCAGCTTCAACTG (p.Phe139=) | |
14 | g.91234218_91234667del | CA16040618 | GPR68 | c.386_835del (p.Phe129_Asn278del) c.416_865del (p.Phe139_Asn288del) | ClinVar dbSNP |
14 | g.91234382_91234384delinsCTT | CA2154863097 | GPR68 | c.667_669delinsAAG (p.Lys223=) c.697_699delinsAAG (p.Lys233=) | |
14 | g.91234383T>A | CA390605874 | GPR68 | c.668A>T (p.Lys223Met) c.698A>T (p.Lys233Met) | |
14 | g.91234383T>C | CA390605876 | GPR68 | c.668A>G (p.Lys223Arg) c.698A>G (p.Lys233Arg) | |
14 | g.91234383T>G | CA390605875 | GPR68 | c.668A>C (p.Lys223Thr) c.698A>C (p.Lys233Thr) | |
14 | g.91234383_91234384del | CA16040619 | GPR68 | c.667_668del (p.Lys223GlyfsTer?) c.697_698del (p.Lys233GlyfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.91234384T>A | CA390605877 | GPR68 | c.667A>T (p.Lys223Ter) c.697A>T (p.Lys233Ter) | |
14 | g.91234384T>C | CA390605878 | GPR68 | c.667A>G (p.Lys223Glu) c.697A>G (p.Lys233Glu) | |
14 | g.91234384T>G | CA390605879 | GPR68 | c.667A>C (p.Lys223Gln) c.697A>C (p.Lys233Gln) | |
14 | g.91234385G>A | CA487828215 | GPR68 | c.666C>T (p.Arg222=) c.696C>T (p.Arg232=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91234385G>C | CA487828216 | GPR68 | c.666C>G (p.Arg222=) c.696C>G (p.Arg232=) | |
14 | g.91234385G= | CA2154863098 | GPR68 | c.666C= (p.Arg222=) c.696C= (p.Arg232=) | |
14 | g.91234385G>T | CA487828217 | GPR68 | c.666C>A (p.Arg222=) c.696C>A (p.Arg232=) | gnomAD v4 |
14 | g.91234387_91234389del | CA2626123429 | GPR68 | c.664_666del (p.Arg222del) c.694_696del (p.Arg232del) | gnomAD v4 |
14 | g.91234386C>A | CA265533499 | GPR68 | c.665G>T (p.Arg222Leu) c.695G>T (p.Arg232Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91234386C= | CA2154863099 | GPR68 | c.665G= (p.Arg222=) c.695G= (p.Arg232=) | |
14 | g.91234386C>G | CA390605880 | GPR68 | c.665G>C (p.Arg222Pro) c.695G>C (p.Arg232Pro) | dbSNP gnomAD v4 |
14 | g.91234386C>T | CA390605881 | GPR68 | c.665G>A (p.Arg222His) c.695G>A (p.Arg232His) | gnomAD v4 |
14 | g.91234387G>A | CA390605882 | GPR68 | c.664C>T (p.Arg222Cys) c.694C>T (p.Arg232Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91234387G>C | CA390605883 | GPR68 | c.664C>G (p.Arg222Gly) c.694C>G (p.Arg232Gly) | |
14 | g.91234387G= | CA2154863100 | GPR68 | c.664C= (p.Arg222=) c.694C= (p.Arg232=) | |
14 | g.91234387G>T | CA390605884 | GPR68 | c.664C>A (p.Arg222Ser) c.694C>A (p.Arg232Ser) | gnomAD v4 |
14 | g.91234388G>A | CA487828223 | GPR68 | c.663C>T (p.Ser221=) c.693C>T (p.Ser231=) | dbSNP gnomAD v4 |
14 | g.91234388G>C | CA390605885 | GPR68 | c.663C>G (p.Ser221Arg) c.693C>G (p.Ser231Arg) | gnomAD v4 |
14 | g.91234388G= | CA2154863101 | GPR68 | c.663C= (p.Ser221=) c.693C= (p.Ser231=) | |
14 | g.91234388G>T | CA390605886 | GPR68 | c.663C>A (p.Ser221Arg) c.693C>A (p.Ser231Arg) | gnomAD v4 |
14 | g.91234389C>A | CA7308315 | GPR68 | c.662G>T (p.Ser221Ile) c.692G>T (p.Ser231Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91234389C= | CA2154863102 | GPR68 | c.662G= (p.Ser221=) c.692G= (p.Ser231=) | |
14 | g.91234389C>G | CA390605888 | GPR68 | c.662G>C (p.Ser221Thr) c.692G>C (p.Ser231Thr) | |
14 | g.91234389C>T | CA390605887 | GPR68 | c.662G>A (p.Ser221Asn) c.692G>A (p.Ser231Asn) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91234390T>A | CA390605890 | GPR68 | c.661A>T (p.Ser221Cys) c.691A>T (p.Ser231Cys) | |
14 | g.91234390T>C | CA390605889 | GPR68 | c.661A>G (p.Ser221Gly) c.691A>G (p.Ser231Gly) | gnomAD v4 |
14 | g.91234390T>G | CA390605891 | GPR68 | c.661A>C (p.Ser221Arg) c.691A>C (p.Ser231Arg) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91234390T= | CA2154863103 | GPR68 | c.661A= (p.Ser221=) c.691A= (p.Ser231=) | |
14 | g.91234391C>A | CA390605892 | GPR68 | c.660G>T (p.Lys220Asn) c.690G>T (p.Lys230Asn) | gnomAD v4 |
14 | g.91234391C= | CA2154863104 | GPR68 | c.660G= (p.Lys220=) c.690G= (p.Lys230=) | |
14 | g.91234391C>G | CA390605893 | GPR68 | c.660G>C (p.Lys220Asn) c.690G>C (p.Lys230Asn) | |
14 | g.91234391C>T | CA7308316 | GPR68 | c.660G>A (p.Lys220=) c.690G>A (p.Lys230=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91234392T>A | CA390605894 | GPR68 | c.659A>T (p.Lys220Met) c.689A>T (p.Lys230Met) | |
14 | g.91234392T>C | CA390605895 | GPR68 | c.659A>G (p.Lys220Arg) c.689A>G (p.Lys230Arg) | |
14 | g.91234392T>G | CA390605896 | GPR68 | c.659A>C (p.Lys220Thr) c.689A>C (p.Lys230Thr) | |
14 | g.91234393T>A | CA390605897 | GPR68 | c.658A>T (p.Lys220Ter) c.688A>T (p.Lys230Ter) | |
14 | g.91234393T>C | CA390605898 | GPR68 | c.658A>G (p.Lys220Glu) c.688A>G (p.Lys230Glu) | |
14 | g.91234393T>G | CA390605899 | GPR68 | c.658A>C (p.Lys220Gln) c.688A>C (p.Lys230Gln) | |
14 | g.91234394C>A | CA390605900 | GPR68 | c.657G>T (p.Gln219His) c.687G>T (p.Gln229His) | dbSNP |
14 | g.91234394C= | CA2154863105 | GPR68 | c.657G= (p.Gln219=) c.687G= (p.Gln229=) | |
14 | g.91234394C>G | CA390605901 | GPR68 | c.657G>C (p.Gln219His) c.687G>C (p.Gln229His) | ClinVar dbSNP gnomAD v4 |
14 | g.91234394C>T | CA487828234 | GPR68 | c.657G>A (p.Gln219=) c.687G>A (p.Gln229=) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91234395T>A | CA390605902 | GPR68 | c.656A>T (p.Gln219Leu) c.686A>T (p.Gln229Leu) |