Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.1761403_1761441dup | CA5814282 | CTSD | c.98_136dup (p.Asp45_Leu46insArgArgThrMetSerGluValGlyGlySerValGluAsp) c.-8_31dup (p.Asp10_Leu11insArgArgThrMetSerGluValGlyGlySerValGluAsp) n.2526_2564dup c.241_279dup (p.Thr93_Ter94insAlaGlyProCysArgArgLeuGlyAlaLeuTrpArgThr) c.53_91dup (p.Asp30_Leu31insArgArgThrMetSerGluValGlyGlySerValGluAsp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.1761436C>A | CA379099941 | CTSD | c.101G>T (p.Arg34Leu) c.-5G>T (n.-5G>T) n.2529G>T c.244G>T (p.Gly82Ter) c.56G>T (p.Arg19Leu) | |
11 | g.1761436C= | CA1947836827 | CTSD | c.101G= (p.Arg34=) c.-5G= (n.-5G=) n.2529G= c.244G= (p.Gly82=) c.56G= (p.Arg19=) | |
11 | g.1761436C>G | CA379099943 | CTSD | c.101G>C (p.Arg34Pro) c.-5G>C (n.-5G>C) n.2529G>C c.244G>C (p.Gly82Arg) c.56G>C (p.Arg19Pro) | gnomAD v4 |
11 | g.1761436C>T | CA379099945 | CTSD | c.101G>A (p.Arg34Gln) c.-5G>A (n.-5G>A) n.2529G>A c.244G>A (p.Gly82Arg) c.56G>A (p.Arg19Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1761437G>A | CA314338 | CTSD | c.100C>T (p.Arg34Trp) c.-6C>T (n.-6C>T) n.2528C>T c.243C>T (p.Ala81=) c.55C>T (p.Arg19Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.1761437G>C | CA379099948 | CTSD | c.100C>G (p.Arg34Gly) c.-6C>G (n.-6C>G) n.2528C>G c.243C>G (p.Ala81=) c.55C>G (p.Arg19Gly) | |
11 | g.1761437G= | CA1947836834 | CTSD | c.100C= (p.Arg34=) c.-6C= (n.-6C=) n.2528C= c.243C= (p.Ala81=) c.55C= (p.Arg19=) | |
11 | g.1761437G>T | CA471994966 | CTSD | c.100C>A (p.Arg34=) c.-6C>A (n.-6C>A) n.2528C>A c.243C>A (p.Ala81=) c.55C>A (p.Arg19=) | |
11 | g.1761438G>A | CA471994968 | CTSD | c.99C>T (p.Arg33=) c.-7C>T (n.-7C>T) n.2527C>T c.242C>T (p.Ala81Val) c.54C>T (p.Arg18=) | gnomAD v4 |
11 | g.1761438G>C | CA471994969 | CTSD | c.99C>G (p.Arg33=) c.-7C>G (n.-7C>G) n.2527C>G c.242C>G (p.Ala81Gly) c.54C>G (p.Arg18=) | ClinVar dbSNP |
11 | g.1761438G= | CA1947836840 | CTSD | c.99C= (p.Arg33=) c.-7C= (n.-7C=) n.2527C= c.242C= (p.Ala81=) c.54C= (p.Arg18=) | |
11 | g.1761438G>T | CA471994967 | CTSD | c.99C>A (p.Arg33=) c.-7C>A (n.-7C>A) n.2527C>A c.242C>A (p.Ala81Asp) c.54C>A (p.Arg18=) | |
11 | g.1761439C>A | CA379099950 | CTSD | c.98G>T (p.Arg33Leu) c.-8G>T (n.-8G>T) n.2526G>T c.241G>T (p.Ala81Ser) c.53G>T (p.Arg18Leu) | |
11 | g.1761439C= | CA1947836847 | CTSD | c.98G= (p.Arg33=) c.-8G= (n.-8G=) n.2526G= c.241G= (p.Ala81=) c.53G= (p.Arg18=) | |
11 | g.1761439C>G | CA379099954 | CTSD | c.98G>C (p.Arg33Pro) c.-8G>C (n.-8G>C) n.2526G>C c.241G>C (p.Ala81Pro) c.53G>C (p.Arg18Pro) | |
11 | g.1761439C>T | CA5814294 | CTSD | c.98G>A (p.Arg33His) c.-8G>A (n.-8G>A) n.2526G>A c.241G>A (p.Ala81Thr) c.53G>A (p.Arg18His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1761440G>A | CA5814295 | CTSD | c.97C>T (p.Arg33Cys) c.-9C>T (n.-9C>T) n.2525C>T c.240C>T (p.Ser80=) c.52C>T (p.Arg18Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.1761440G>C | CA379099961 | CTSD | c.97C>G (p.Arg33Gly) c.-9C>G (n.-9C>G) n.2525C>G c.240C>G (p.Ser80=) c.52C>G (p.Arg18Gly) | |
11 | g.1761440G= | CA1947836850 | CTSD | c.97C= (p.Arg33=) c.-9C= (n.-9C=) n.2525C= c.240C= (p.Ser80=) c.52C= (p.Arg18=) | |
11 | g.1761440G>T | CA379099963 | CTSD | c.97C>A (p.Arg33Ser) c.-9C>A (n.-9C>A) n.2525C>A c.240C>A (p.Ser80=) c.52C>A (p.Arg18Ser) | |
11 | g.1761441G>A | CA471994970 | CTSD | c.96C>T (p.Ile32=) c.-10C>T (n.-10C>T) n.2524C>T c.239C>T (p.Ser80Phe) c.51C>T (p.Ile17=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.1761441G>C | CA379099967 | CTSD | c.96C>G (p.Ile32Met) c.-10C>G (n.-10C>G) n.2524C>G c.239C>G (p.Ser80Cys) c.51C>G (p.Ile17Met) | |
11 | g.1761441G= | CA1947836855 | CTSD | c.96C= (p.Ile32=) c.-10C= (n.-10C=) n.2524C= c.239C= (p.Ser80=) c.51C= (p.Ile17=) | |
11 | g.1761441G>T | CA471994971 | CTSD | c.96C>A (p.Ile32=) c.-10C>A (n.-10C>A) n.2524C>A c.239C>A (p.Ser80Tyr) c.51C>A (p.Ile17=) | |
11 | g.1761442A>C | CA379099973 | CTSD | c.95T>G (p.Ile32Ser) c.-11T>G (n.-11T>G) n.2523T>G c.238T>G (p.Ser80Ala) c.50T>G (p.Ile17Ser) | |
11 | g.1761442A>G | CA379099977 | CTSD | c.95T>C (p.Ile32Thr) c.-11T>C (n.-11T>C) n.2523T>C c.238T>C (p.Ser80Pro) c.50T>C (p.Ile17Thr) | |
11 | g.1761442A>T | CA379099970 | CTSD | c.95T>A (p.Ile32Asn) c.-11T>A (n.-11T>A) n.2523T>A c.238T>A (p.Ser80Thr) c.50T>A (p.Ile17Asn) | |
11 | g.1761443T>A | CA379099980 | CTSD | c.94A>T (p.Ile32Phe) c.-12A>T (n.-12A>T) n.2522A>T c.237A>T (p.Pro79=) c.49A>T (p.Ile17Phe) | |
11 | g.1761443T>C | CA379099983 | CTSD | c.94A>G (p.Ile32Val) c.-12A>G (n.-12A>G) n.2522A>G c.237A>G (p.Pro79=) c.49A>G (p.Ile17Val) | ClinVar gnomAD v4 |
11 | g.1761443T>G | CA379099985 | CTSD | c.94A>C (p.Ile32Leu) c.-12A>C (n.-12A>C) n.2522A>C c.237A>C (p.Pro79=) c.49A>C (p.Ile17Leu) | |
11 | g.1761444G>A | CA471994972 | CTSD | c.93C>T (p.Ser31=) c.-13C>T (n.-13C>T) n.2521C>T c.236C>T (p.Pro79Leu) c.48C>T (p.Ser16=) | |
11 | g.1761444G>C | CA471994973 | CTSD | c.93C>G (p.Ser31=) c.-13C>G (n.-13C>G) n.2521C>G c.236C>G (p.Pro79Arg) c.48C>G (p.Ser16=) | |
11 | g.1761444G>T | CA471994974 | CTSD | c.93C>A (p.Ser31=) c.-13C>A (n.-13C>A) n.2521C>A c.236C>A (p.Pro79Gln) c.48C>A (p.Ser16=) | |
11 | g.1761445G>A | CA379099989 | CTSD | c.92C>T (p.Ser31Phe) c.-14C>T (n.-14C>T) n.2520C>T c.235C>T (p.Pro79Ser) c.47C>T (p.Ser16Phe) | |
11 | g.1761445G>C | CA379099991 | CTSD | c.92C>G (p.Ser31Cys) c.-14C>G (n.-14C>G) n.2520C>G c.235C>G (p.Pro79Ala) c.47C>G (p.Ser16Cys) | |
11 | g.1761445G>T | CA379099994 | CTSD | c.92C>A (p.Ser31Tyr) c.-14C>A (n.-14C>A) n.2520C>A c.235C>A (p.Pro79Thr) c.47C>A (p.Ser16Tyr) | |
11 | g.1761446A>C | CA379099998 | CTSD | c.91T>G (p.Ser31Ala) c.-15T>G (n.-15T>G) n.2519T>G c.234T>G (p.Arg78=) c.46T>G (p.Ser16Ala) | |
11 | g.1761446A>G | CA379100002 | CTSD | c.91T>C (p.Ser31Pro) c.-15T>C (n.-15T>C) n.2519T>C c.234T>C (p.Arg78=) c.46T>C (p.Ser16Pro) | COSMIC |
11 | g.1761446A>T | CA379099999 | CTSD | c.91T>A (p.Ser31Thr) c.-15T>A (n.-15T>A) n.2519T>A c.234T>A (p.Arg78=) c.46T>A (p.Ser16Thr) | |
11 | g.1761447C>A | CA471994976 | CTSD | c.90G>T (p.Thr30=) c.-16G>T (n.-16G>T) n.2518G>T c.233G>T (p.Arg78Leu) c.45G>T (p.Thr15=) | |
11 | g.1761447C= | CA1947836860 | CTSD | c.90G= (p.Thr30=) c.-16G= (n.-16G=) n.2518G= c.233G= (p.Arg78=) c.45G= (p.Thr15=) | |
11 | g.1761447C>G | CA471994975 | CTSD | c.90G>C (p.Thr30=) c.-16G>C (n.-16G>C) n.2518G>C c.233G>C (p.Arg78Pro) c.45G>C (p.Thr15=) | |
11 | g.1761447C>T | CA5814296 | CTSD | c.90G>A (p.Thr30=) c.-16G>A (n.-16G>A) n.2518G>A c.233G>A (p.Arg78His) c.45G>A (p.Thr15=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.1761448G>A | CA5814297 | CTSD | c.89C>T (p.Thr30Met) c.-17C>T (n.-17C>T) n.2517C>T c.232C>T (p.Arg78Cys) c.44C>T (p.Thr15Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.1761448G>C | CA379100007 | CTSD | c.89C>G (p.Thr30Arg) c.-17C>G (n.-17C>G) n.2517C>G c.232C>G (p.Arg78Gly) c.44C>G (p.Thr15Arg) | |
11 | g.1761448G= | CA1947836866 | CTSD | c.89C= (p.Thr30=) c.-17C= (n.-17C=) n.2517C= c.232C= (p.Arg78=) c.44C= (p.Thr15=) | |
11 | g.1761448G>T | CA379100011 | CTSD | c.89C>A (p.Thr30Lys) c.-17C>A (n.-17C>A) n.2517C>A c.232C>A (p.Arg78Ser) c.44C>A (p.Thr15Lys) | |
11 | g.1761449T>A | CA379100020 | CTSD | c.88A>T (p.Thr30Ser) c.-18A>T (n.-18A>T) n.2516A>T c.231A>T (p.Ser77=) c.43A>T (p.Thr15Ser) | |
11 | g.1761449T>C | CA379100018 | CTSD | c.88A>G (p.Thr30Ala) c.-18A>G (n.-18A>G) n.2516A>G c.231A>G (p.Ser77=) c.43A>G (p.Thr15Ala) | gnomAD v4 |