Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.73490190G>A | CA347267935 | ALMS1 | c.7850G>A (p.Gly2617Glu) c.1242G>A c.5302G>A c.2297G>A (p.Gly766Glu) c.8231G>A (p.Gly2744Glu) c.896-29585G>A c.3030+32G>A (n.3030+32G>A) c.8105G>A (p.Gly2702Glu) n.2034G>A c.8234G>A (p.Gly2745Glu) | |
2 | g.73490190G>C | CA347267937 | ALMS1 | c.7850G>C (p.Gly2617Ala) c.1242G>C c.5302G>C c.2297G>C (p.Gly766Ala) c.8231G>C (p.Gly2744Ala) c.896-29585G>C c.3030+32G>C (n.3030+32G>C) c.8105G>C (p.Gly2702Ala) n.2034G>C c.8234G>C (p.Gly2745Ala) | |
2 | g.73490190G>T | CA347267938 | ALMS1 | c.7850G>T (p.Gly2617Val) c.1242G>T c.5302G>T c.2297G>T (p.Gly766Val) c.8231G>T (p.Gly2744Val) c.896-29585G>T c.3030+32G>T (n.3030+32G>T) c.8105G>T (p.Gly2702Val) n.2034G>T c.8234G>T (p.Gly2745Val) | |
2 | g.73490191A>C | CA427001218 | ALMS1 | c.7851A>C (p.Gly2617=) c.1243A>C c.5303A>C c.2298A>C (p.Gly766=) c.8232A>C (p.Gly2744=) c.896-29584A>C c.3030+33A>C (n.3030+33A>C) c.8106A>C (p.Gly2702=) n.2035A>C c.8235A>C (p.Gly2745=) | |
2 | g.73490191A>G | CA427001217 | ALMS1 | c.7851A>G (p.Gly2617=) c.1243A>G c.5303A>G c.2298A>G (p.Gly766=) c.8232A>G (p.Gly2744=) c.896-29584A>G c.3030+33A>G (n.3030+33A>G) c.8106A>G (p.Gly2702=) n.2035A>G c.8235A>G (p.Gly2745=) | |
2 | g.73490191A>T | CA427001215 | ALMS1 | c.7851A>T (p.Gly2617=) c.1243A>T c.5303A>T c.2298A>T (p.Gly766=) c.8232A>T (p.Gly2744=) c.896-29584A>T c.3030+33A>T (n.3030+33A>T) c.8106A>T (p.Gly2702=) n.2035A>T c.8235A>T (p.Gly2745=) | gnomAD v4 |
2 | g.73490192G>A | CA347267942 | ALMS1 | c.7852G>A (p.Ala2618Thr) c.1244G>A c.5304G>A c.2299G>A (p.Ala767Thr) c.8233G>A (p.Ala2745Thr) c.896-29583G>A c.3030+34G>A (n.3030+34G>A) c.8107G>A (p.Ala2703Thr) n.2036G>A c.8236G>A (p.Ala2746Thr) | gnomAD v4 |
2 | g.73490192G>C | CA347267941 | ALMS1 | c.7852G>C (p.Ala2618Pro) c.1244G>C c.5304G>C c.2299G>C (p.Ala767Pro) c.8233G>C (p.Ala2745Pro) c.896-29583G>C c.3030+34G>C (n.3030+34G>C) c.8107G>C (p.Ala2703Pro) n.2036G>C c.8236G>C (p.Ala2746Pro) | |
2 | g.73490192G>T | CA347267940 | ALMS1 | c.7852G>T (p.Ala2618Ser) c.1244G>T c.5304G>T c.2299G>T (p.Ala767Ser) c.8233G>T (p.Ala2745Ser) c.896-29583G>T c.3030+34G>T (n.3030+34G>T) c.8107G>T (p.Ala2703Ser) n.2036G>T c.8236G>T (p.Ala2746Ser) | gnomAD v4 |
2 | g.73490193C>A | CA347267946 | ALMS1 | c.7853C>A (p.Ala2618Glu) c.1245C>A c.5305C>A c.2300C>A (p.Ala767Glu) c.8234C>A (p.Ala2745Glu) c.896-29582C>A c.3030+35C>A (n.3030+35C>A) c.8108C>A (p.Ala2703Glu) n.2037C>A c.8237C>A (p.Ala2746Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490193C= | CA1260981652 | ALMS1 | c.7853C= (p.Ala2618=) c.1245C= c.5305C= c.2300C= (p.Ala767=) c.8234C= (p.Ala2745=) c.896-29582C= c.3030+35C= (n.3030+35C=) c.8108C= (p.Ala2703=) n.2037C= c.8237C= (p.Ala2746=) | |
2 | g.73490193C>G | CA347267944 | ALMS1 | c.7853C>G (p.Ala2618Gly) c.1245C>G c.5305C>G c.2300C>G (p.Ala767Gly) c.8234C>G (p.Ala2745Gly) c.896-29582C>G c.3030+35C>G (n.3030+35C>G) c.8108C>G (p.Ala2703Gly) n.2037C>G c.8237C>G (p.Ala2746Gly) | |
2 | g.73490193C>T | CA347267945 | ALMS1 | c.7853C>T (p.Ala2618Val) c.1245C>T c.5305C>T c.2300C>T (p.Ala767Val) c.8234C>T (p.Ala2745Val) c.896-29582C>T c.3030+35C>T (n.3030+35C>T) c.8108C>T (p.Ala2703Val) n.2037C>T c.8237C>T (p.Ala2746Val) | gnomAD v4 |
2 | g.73490194A= | CA1260981654 | ALMS1 | c.7854A= (p.Ala2618=) c.1246A= c.5306A= c.2301A= (p.Ala767=) c.8235A= (p.Ala2745=) c.896-29581A= c.3030+36A= (n.3030+36A=) c.8109A= (p.Ala2703=) n.2038A= c.8238A= (p.Ala2746=) | |
2 | g.73490194A>C | CA427001225 | ALMS1 | c.7854A>C (p.Ala2618=) c.1246A>C c.5306A>C c.2301A>C (p.Ala767=) c.8235A>C (p.Ala2745=) c.896-29581A>C c.3030+36A>C (n.3030+36A>C) c.8109A>C (p.Ala2703=) n.2038A>C c.8238A>C (p.Ala2746=) | |
2 | g.73490194A>G | CA1714429 | ALMS1 | c.7854A>G (p.Ala2618=) c.1246A>G c.5306A>G c.2301A>G (p.Ala767=) c.8235A>G (p.Ala2745=) c.896-29581A>G c.3030+36A>G (n.3030+36A>G) c.8109A>G (p.Ala2703=) n.2038A>G c.8238A>G (p.Ala2746=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490194A>T | CA427001226 | ALMS1 | c.7854A>T (p.Ala2618=) c.1246A>T c.5306A>T c.2301A>T (p.Ala767=) c.8235A>T (p.Ala2745=) c.896-29581A>T c.3030+36A>T (n.3030+36A>T) c.8109A>T (p.Ala2703=) n.2038A>T c.8238A>T (p.Ala2746=) | |
2 | g.73490195T>A | CA347267947 | ALMS1 | c.7855T>A (p.Ser2619Thr) c.1247T>A c.5307T>A c.2302T>A (p.Ser768Thr) c.8236T>A (p.Ser2746Thr) c.896-29580T>A c.3030+37T>A (n.3030+37T>A) c.8110T>A (p.Ser2704Thr) n.2039T>A c.8239T>A (p.Ser2747Thr) | |
2 | g.73490195T>C | CA347267948 | ALMS1 | c.7855T>C (p.Ser2619Pro) c.1247T>C c.5307T>C c.2302T>C (p.Ser768Pro) c.8236T>C (p.Ser2746Pro) c.896-29580T>C c.3030+37T>C (n.3030+37T>C) c.8110T>C (p.Ser2704Pro) n.2039T>C c.8239T>C (p.Ser2747Pro) | |
2 | g.73490195T>G | CA347267949 | ALMS1 | c.7855T>G (p.Ser2619Ala) c.1247T>G c.5307T>G c.2302T>G (p.Ser768Ala) c.8236T>G (p.Ser2746Ala) c.896-29580T>G c.3030+37T>G (n.3030+37T>G) c.8110T>G (p.Ser2704Ala) n.2039T>G c.8239T>G (p.Ser2747Ala) | |
2 | g.73490196C>A | CA347267951 | ALMS1 | c.7856C>A (p.Ser2619Tyr) c.1248C>A c.5308C>A c.2303C>A (p.Ser768Tyr) c.8237C>A (p.Ser2746Tyr) c.896-29579C>A c.3030+38C>A (n.3030+38C>A) c.8111C>A (p.Ser2704Tyr) n.2040C>A c.8240C>A (p.Ser2747Tyr) | |
2 | g.73490196C>G | CA347267952 | ALMS1 | c.7856C>G (p.Ser2619Cys) c.1248C>G c.5308C>G c.2303C>G (p.Ser768Cys) c.8237C>G (p.Ser2746Cys) c.896-29579C>G c.3030+38C>G (n.3030+38C>G) c.8111C>G (p.Ser2704Cys) n.2040C>G c.8240C>G (p.Ser2747Cys) | |
2 | g.73490196C>T | CA347267954 | ALMS1 | c.7856C>T (p.Ser2619Phe) c.1248C>T c.5308C>T c.2303C>T (p.Ser768Phe) c.8237C>T (p.Ser2746Phe) c.896-29579C>T c.3030+38C>T (n.3030+38C>T) c.8111C>T (p.Ser2704Phe) n.2040C>T c.8240C>T (p.Ser2747Phe) | |
2 | g.73490197T>A | CA427001235 | ALMS1 | c.7857T>A (p.Ser2619=) c.1249T>A c.5309T>A c.2304T>A (p.Ser768=) c.8238T>A (p.Ser2746=) c.896-29578T>A c.3030+39T>A (n.3030+39T>A) c.8112T>A (p.Ser2704=) n.2041T>A c.8241T>A (p.Ser2747=) | |
2 | g.73490197T>C | CA427001236 | ALMS1 | c.7857T>C (p.Ser2619=) c.1249T>C c.5309T>C c.2304T>C (p.Ser768=) c.8238T>C (p.Ser2746=) c.896-29578T>C c.3030+39T>C (n.3030+39T>C) c.8112T>C (p.Ser2704=) n.2041T>C c.8241T>C (p.Ser2747=) | |
2 | g.73490197T>G | CA427001238 | ALMS1 | c.7857T>G (p.Ser2619=) c.1249T>G c.5309T>G c.2304T>G (p.Ser768=) c.8238T>G (p.Ser2746=) c.896-29578T>G c.3030+39T>G (n.3030+39T>G) c.8112T>G (p.Ser2704=) n.2041T>G c.8241T>G (p.Ser2747=) | |
2 | g.73490198G>A | CA347267955 | ALMS1 | c.7858G>A (p.Val2620Met) c.1250G>A c.5310G>A c.2305G>A (p.Val769Met) c.8239G>A (p.Val2747Met) c.896-29577G>A c.3030+40G>A (n.3030+40G>A) c.8113G>A (p.Val2705Met) n.2042G>A c.8242G>A (p.Val2748Met) | |
2 | g.73490198G>C | CA347267956 | ALMS1 | c.7858G>C (p.Val2620Leu) c.1250G>C c.5310G>C c.2305G>C (p.Val769Leu) c.8239G>C (p.Val2747Leu) c.896-29577G>C c.3030+40G>C (n.3030+40G>C) c.8113G>C (p.Val2705Leu) n.2042G>C c.8242G>C (p.Val2748Leu) | dbSNP |
2 | g.73490198G= | CA1260981659 | ALMS1 | c.7858G= (p.Val2620=) c.1250G= c.5310G= c.2305G= (p.Val769=) c.8239G= (p.Val2747=) c.896-29577G= c.3030+40G= (n.3030+40G=) c.8113G= (p.Val2705=) n.2042G= c.8242G= (p.Val2748=) | |
2 | g.73490198G>T | CA10582103 | ALMS1 | c.7858G>T (p.Val2620Leu) c.1250G>T c.5310G>T c.2305G>T (p.Val769Leu) c.8239G>T (p.Val2747Leu) c.896-29577G>T c.3030+40G>T (n.3030+40G>T) c.8113G>T (p.Val2705Leu) n.2042G>T c.8242G>T (p.Val2748Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490199T>A | CA347267960 | ALMS1 | c.7859T>A (p.Val2620Glu) c.1251T>A c.5311T>A c.2306T>A (p.Val769Glu) c.8240T>A (p.Val2747Glu) c.896-29576T>A c.3030+41T>A (n.3030+41T>A) c.8114T>A (p.Val2705Glu) n.2043T>A c.8243T>A (p.Val2748Glu) | |
2 | g.73490199T>C | CA347267959 | ALMS1 | c.7859T>C (p.Val2620Ala) c.1251T>C c.5311T>C c.2306T>C (p.Val769Ala) c.8240T>C (p.Val2747Ala) c.896-29576T>C c.3030+41T>C (n.3030+41T>C) c.8114T>C (p.Val2705Ala) n.2043T>C c.8243T>C (p.Val2748Ala) | |
2 | g.73490199T>G | CA1714430 | ALMS1 | c.7859T>G (p.Val2620Gly) c.1251T>G c.5311T>G c.2306T>G (p.Val769Gly) c.8240T>G (p.Val2747Gly) c.896-29576T>G c.3030+41T>G (n.3030+41T>G) c.8114T>G (p.Val2705Gly) n.2043T>G c.8243T>G (p.Val2748Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490199T= | CA1260981669 | ALMS1 | c.7859T= (p.Val2620=) c.1251T= c.5311T= c.2306T= (p.Val769=) c.8240T= (p.Val2747=) c.896-29576T= c.3030+41T= (n.3030+41T=) c.8114T= (p.Val2705=) n.2043T= c.8243T= (p.Val2748=) | |
2 | g.73490199_73490200insA | CA2659619851 | ALMS1 | c.7859_7860insA (p.Val2622GlyfsTer3) c.1251_1252insA c.5311_5312insA c.2306_2307insA (p.Val771GlyfsTer3) c.8240_8241insA (p.Val2749GlyfsTer3) c.896-29576_896-29575insA c.3030+41_3030+42insA (n.3030+41_3030+42insA) c.8114_8115insA (p.Val2707GlyfsTer3) n.2043_2044insA c.8243_8244insA (p.Val2750GlyfsTer3) | gnomAD v4 |
2 | g.73490200G>A | CA427001248 | ALMS1 | c.7860G>A (p.Val2620=) c.1252G>A c.5312G>A c.2307G>A (p.Val769=) c.8241G>A (p.Val2747=) c.896-29575G>A c.3030+42G>A (n.3030+42G>A) c.8115G>A (p.Val2705=) n.2044G>A c.8244G>A (p.Val2748=) | ClinVar |
2 | g.73490200G>C | CA427001250 | ALMS1 | c.7860G>C (p.Val2620=) c.1252G>C c.5312G>C c.2307G>C (p.Val769=) c.8241G>C (p.Val2747=) c.896-29575G>C c.3030+42G>C (n.3030+42G>C) c.8115G>C (p.Val2705=) n.2044G>C c.8244G>C (p.Val2748=) | |
2 | g.73490200G>T | CA427001252 | ALMS1 | c.7860G>T (p.Val2620=) c.1252G>T c.5312G>T c.2307G>T (p.Val769=) c.8241G>T (p.Val2747=) c.896-29575G>T c.3030+42G>T (n.3030+42G>T) c.8115G>T (p.Val2705=) n.2044G>T c.8244G>T (p.Val2748=) | |
2 | g.73490204dup | CA1714431 | ALMS1 | c.7864dup (p.Val2622GlyfsTer3) c.1256dup c.5316dup c.2311dup (p.Val771GlyfsTer3) c.8245dup (p.Val2749GlyfsTer3) c.896-29571dup c.3030+46dup (n.3030+46dup) c.8119dup (p.Val2707GlyfsTer3) n.2048dup c.8248dup (p.Val2750GlyfsTer3) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490201G>A | CA347267962 | ALMS1 | c.7861G>A (p.Gly2621Arg) c.1253G>A c.5313G>A c.2308G>A (p.Gly770Arg) c.8242G>A (p.Gly2748Arg) c.896-29574G>A c.3030+43G>A (n.3030+43G>A) c.8116G>A (p.Gly2706Arg) n.2045G>A c.8245G>A (p.Gly2749Arg) | gnomAD v4 |
2 | g.73490201G>C | CA347267963 | ALMS1 | c.7861G>C (p.Gly2621Arg) c.1253G>C c.5313G>C c.2308G>C (p.Gly770Arg) c.8242G>C (p.Gly2748Arg) c.896-29574G>C c.3030+43G>C (n.3030+43G>C) c.8116G>C (p.Gly2706Arg) n.2045G>C c.8245G>C (p.Gly2749Arg) | ClinVar dbSNP |
2 | g.73490201G= | CA1260981677 | ALMS1 | c.7861G= (p.Gly2621=) c.1253G= c.5313G= c.2308G= (p.Gly770=) c.8242G= (p.Gly2748=) c.896-29574G= c.3030+43G= (n.3030+43G=) c.8116G= (p.Gly2706=) n.2045G= c.8245G= (p.Gly2749=) | |
2 | g.73490201G>T | CA347267965 | ALMS1 | c.7861G>T (p.Gly2621Trp) c.1253G>T c.5313G>T c.2308G>T (p.Gly770Trp) c.8242G>T (p.Gly2748Trp) c.896-29574G>T c.3030+43G>T (n.3030+43G>T) c.8116G>T (p.Gly2706Trp) n.2045G>T c.8245G>T (p.Gly2749Trp) | gnomAD v4 |
2 | g.73490202G>A | CA347267967 | ALMS1 | c.7862G>A (p.Gly2621Glu) c.1254G>A c.5314G>A c.2309G>A (p.Gly770Glu) c.8243G>A (p.Gly2748Glu) c.896-29573G>A c.3030+44G>A (n.3030+44G>A) c.8117G>A (p.Gly2706Glu) n.2046G>A c.8246G>A (p.Gly2749Glu) | |
2 | g.73490202G>C | CA347267968 | ALMS1 | c.7862G>C (p.Gly2621Ala) c.1254G>C c.5314G>C c.2309G>C (p.Gly770Ala) c.8243G>C (p.Gly2748Ala) c.896-29573G>C c.3030+44G>C (n.3030+44G>C) c.8117G>C (p.Gly2706Ala) n.2046G>C c.8246G>C (p.Gly2749Ala) | |
2 | g.73490202G>T | CA347267969 | ALMS1 | c.7862G>T (p.Gly2621Val) c.1254G>T c.5314G>T c.2309G>T (p.Gly770Val) c.8243G>T (p.Gly2748Val) c.896-29573G>T c.3030+44G>T (n.3030+44G>T) c.8117G>T (p.Gly2706Val) n.2046G>T c.8246G>T (p.Gly2749Val) | |
2 | g.73490203G>A | CA427001258 | ALMS1 | c.7863G>A (p.Gly2621=) c.1255G>A c.5315G>A c.2310G>A (p.Gly770=) c.8244G>A (p.Gly2748=) c.896-29572G>A c.3030+45G>A (n.3030+45G>A) c.8118G>A (p.Gly2706=) n.2047G>A c.8247G>A (p.Gly2749=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490203G>C | CA427001260 | ALMS1 | c.7863G>C (p.Gly2621=) c.1255G>C c.5315G>C c.2310G>C (p.Gly770=) c.8244G>C (p.Gly2748=) c.896-29572G>C c.3030+45G>C (n.3030+45G>C) c.8118G>C (p.Gly2706=) n.2047G>C c.8247G>C (p.Gly2749=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490203G= | CA1260981681 | ALMS1 | c.7863G= (p.Gly2621=) c.1255G= c.5315G= c.2310G= (p.Gly770=) c.8244G= (p.Gly2748=) c.896-29572G= c.3030+45G= (n.3030+45G=) c.8118G= (p.Gly2706=) n.2047G= c.8247G= (p.Gly2749=) | |
2 | g.73490203G>T | CA427001262 | ALMS1 | c.7863G>T (p.Gly2621=) c.1255G>T c.5315G>T c.2310G>T (p.Gly770=) c.8244G>T (p.Gly2748=) c.896-29572G>T c.3030+45G>T (n.3030+45G>T) c.8118G>T (p.Gly2706=) n.2047G>T c.8247G>T (p.Gly2749=) | gnomAD v4 |
2 | g.73490204G>A | CA50378333 | ALMS1 | c.7864G>A (p.Val2622Ile) c.1256G>A c.5316G>A c.2311G>A (p.Val771Ile) c.8245G>A (p.Val2749Ile) c.896-29571G>A c.3030+46G>A (n.3030+46G>A) c.8119G>A (p.Val2707Ile) n.2048G>A c.8248G>A (p.Val2750Ile) | ClinVar dbSNP gnomAD v4 |
2 | g.73490204G>C | CA347267970 | ALMS1 | c.7864G>C (p.Val2622Leu) c.1256G>C c.5316G>C c.2311G>C (p.Val771Leu) c.8245G>C (p.Val2749Leu) c.896-29571G>C c.3030+46G>C (n.3030+46G>C) c.8119G>C (p.Val2707Leu) n.2048G>C c.8248G>C (p.Val2750Leu) | |
2 | g.73490204G= | CA1260981684 | ALMS1 | c.7864G= (p.Val2622=) c.1256G= c.5316G= c.2311G= (p.Val771=) c.8245G= (p.Val2749=) c.896-29571G= c.3030+46G= (n.3030+46G=) c.8119G= (p.Val2707=) n.2048G= c.8248G= (p.Val2750=) | |
2 | g.73490204G>T | CA347267971 | ALMS1 | c.7864G>T (p.Val2622Leu) c.1256G>T c.5316G>T c.2311G>T (p.Val771Leu) c.8245G>T (p.Val2749Leu) c.896-29571G>T c.3030+46G>T (n.3030+46G>T) c.8119G>T (p.Val2707Leu) n.2048G>T c.8248G>T (p.Val2750Leu) | gnomAD v4 |
2 | g.73490205T>A | CA347267973 | ALMS1 | c.7865T>A (p.Val2622Glu) c.1257T>A c.5317T>A c.2312T>A (p.Val771Glu) c.8246T>A (p.Val2749Glu) c.896-29570T>A c.3030+47T>A (n.3030+47T>A) c.8120T>A (p.Val2707Glu) n.2049T>A c.8249T>A (p.Val2750Glu) | |
2 | g.73490205T>C | CA347267974 | ALMS1 | c.7865T>C (p.Val2622Ala) c.1257T>C c.5317T>C c.2312T>C (p.Val771Ala) c.8246T>C (p.Val2749Ala) c.896-29570T>C c.3030+47T>C (n.3030+47T>C) c.8120T>C (p.Val2707Ala) n.2049T>C c.8249T>C (p.Val2750Ala) | ClinVar dbSNP gnomAD v4 |
2 | g.73490205T>G | CA347267975 | ALMS1 | c.7865T>G (p.Val2622Gly) c.1257T>G c.5317T>G c.2312T>G (p.Val771Gly) c.8246T>G (p.Val2749Gly) c.896-29570T>G c.3030+47T>G (n.3030+47T>G) c.8120T>G (p.Val2707Gly) n.2049T>G c.8249T>G (p.Val2750Gly) | |
2 | g.73490206A>C | CA427001281 | ALMS1 | c.7866A>C (p.Val2622=) c.1258A>C c.5318A>C c.2313A>C (p.Val771=) c.8247A>C (p.Val2749=) c.896-29569A>C c.3030+48A>C (n.3030+48A>C) c.8121A>C (p.Val2707=) n.2050A>C c.8250A>C (p.Val2750=) | |
2 | g.73490206A>G | CA427001283 | ALMS1 | c.7866A>G (p.Val2622=) c.1258A>G c.5318A>G c.2313A>G (p.Val771=) c.8247A>G (p.Val2749=) c.896-29569A>G c.3030+48A>G (n.3030+48A>G) c.8121A>G (p.Val2707=) n.2050A>G c.8250A>G (p.Val2750=) | |
2 | g.73490206A>T | CA427001285 | ALMS1 | c.7866A>T (p.Val2622=) c.1258A>T c.5318A>T c.2313A>T (p.Val771=) c.8247A>T (p.Val2749=) c.896-29569A>T c.3030+48A>T (n.3030+48A>T) c.8121A>T (p.Val2707=) n.2050A>T c.8250A>T (p.Val2750=) | |
2 | g.73490209_73490213del | CA2573135761 | ALMS1 | c.7869_7873del (p.Asn2624SerfsTer4) c.1261_1265del c.5321_5325del c.2316_2320del (p.Asn773SerfsTer4) c.8250_8254del (p.Asn2751SerfsTer4) c.896-29566_896-29562del c.3030+51_3030+55del (n.3030+51_3030+55del) c.8124_8128del (p.Asn2709SerfsTer4) n.2053_2057del c.8253_8257del (p.Asn2752SerfsTer4) | ClinVar dbSNP |
2 | g.73490207T>A | CA347267979 | ALMS1 | c.7867T>A (p.Phe2623Ile) c.1259T>A c.5319T>A c.2314T>A (p.Phe772Ile) c.8248T>A (p.Phe2750Ile) c.896-29568T>A c.3030+49T>A (n.3030+49T>A) c.8122T>A (p.Phe2708Ile) n.2051T>A c.8251T>A (p.Phe2751Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490207T>C | CA347267980 | ALMS1 | c.7867T>C (p.Phe2623Leu) c.1259T>C c.5319T>C c.2314T>C (p.Phe772Leu) c.8248T>C (p.Phe2750Leu) c.896-29568T>C c.3030+49T>C (n.3030+49T>C) c.8122T>C (p.Phe2708Leu) n.2051T>C c.8251T>C (p.Phe2751Leu) | |
2 | g.73490207T>G | CA347267978 | ALMS1 | c.7867T>G (p.Phe2623Val) c.1259T>G c.5319T>G c.2314T>G (p.Phe772Val) c.8248T>G (p.Phe2750Val) c.896-29568T>G c.3030+49T>G (n.3030+49T>G) c.8122T>G (p.Phe2708Val) n.2051T>G c.8251T>G (p.Phe2751Val) | |
2 | g.73490207T= | CA1260981687 | ALMS1 | c.7867T= (p.Phe2623=) c.1259T= c.5319T= c.2314T= (p.Phe772=) c.8248T= (p.Phe2750=) c.896-29568T= c.3030+49T= (n.3030+49T=) c.8122T= (p.Phe2708=) n.2051T= c.8251T= (p.Phe2751=) | |
2 | g.73490208T>A | CA347267982 | ALMS1 | c.7868T>A (p.Phe2623Tyr) c.1260T>A c.5320T>A c.2315T>A (p.Phe772Tyr) c.8249T>A (p.Phe2750Tyr) c.896-29567T>A c.3030+50T>A (n.3030+50T>A) c.8123T>A (p.Phe2708Tyr) n.2052T>A c.8252T>A (p.Phe2751Tyr) | |
2 | g.73490208T>C | CA347267985 | ALMS1 | c.7868T>C (p.Phe2623Ser) c.1260T>C c.5320T>C c.2315T>C (p.Phe772Ser) c.8249T>C (p.Phe2750Ser) c.896-29567T>C c.3030+50T>C (n.3030+50T>C) c.8123T>C (p.Phe2708Ser) n.2052T>C c.8252T>C (p.Phe2751Ser) | |
2 | g.73490208T>G | CA347267984 | ALMS1 | c.7868T>G (p.Phe2623Cys) c.1260T>G c.5320T>G c.2315T>G (p.Phe772Cys) c.8249T>G (p.Phe2750Cys) c.896-29567T>G c.3030+50T>G (n.3030+50T>G) c.8123T>G (p.Phe2708Cys) n.2052T>G c.8252T>G (p.Phe2751Cys) | |
2 | g.73490209T>A | CA347267987 | ALMS1 | c.7869T>A (p.Phe2623Leu) c.1261T>A c.5321T>A c.2316T>A (p.Phe772Leu) c.8250T>A (p.Phe2750Leu) c.896-29566T>A c.3030+51T>A (n.3030+51T>A) c.8124T>A (p.Phe2708Leu) n.2053T>A c.8253T>A (p.Phe2751Leu) | |
2 | g.73490209T>C | CA427001292 | ALMS1 | c.7869T>C (p.Phe2623=) c.1261T>C c.5321T>C c.2316T>C (p.Phe772=) c.8250T>C (p.Phe2750=) c.896-29566T>C c.3030+51T>C (n.3030+51T>C) c.8124T>C (p.Phe2708=) n.2053T>C c.8253T>C (p.Phe2751=) | ClinVar gnomAD v4 |
2 | g.73490209T>G | CA347267988 | ALMS1 | c.7869T>G (p.Phe2623Leu) c.1261T>G c.5321T>G c.2316T>G (p.Phe772Leu) c.8250T>G (p.Phe2750Leu) c.896-29566T>G c.3030+51T>G (n.3030+51T>G) c.8124T>G (p.Phe2708Leu) n.2053T>G c.8253T>G (p.Phe2751Leu) | |
2 | g.73490210A= | CA1260981692 | ALMS1 | c.7870A= (p.Asn2624=) c.1262A= c.5322A= c.2317A= (p.Asn773=) c.8251A= (p.Asn2751=) c.896-29565A= c.3030+52A= (n.3030+52A=) c.8125A= (p.Asn2709=) n.2054A= c.8254A= (p.Asn2752=) | |
2 | g.73490210A>C | CA347267990 | ALMS1 | c.7870A>C (p.Asn2624His) c.1262A>C c.5322A>C c.2317A>C (p.Asn773His) c.8251A>C (p.Asn2751His) c.896-29565A>C c.3030+52A>C (n.3030+52A>C) c.8125A>C (p.Asn2709His) n.2054A>C c.8254A>C (p.Asn2752His) | |
2 | g.73490210A>G | CA347267992 | ALMS1 | c.7870A>G (p.Asn2624Asp) c.1262A>G c.5322A>G c.2317A>G (p.Asn773Asp) c.8251A>G (p.Asn2751Asp) c.896-29565A>G c.3030+52A>G (n.3030+52A>G) c.8125A>G (p.Asn2709Asp) n.2054A>G c.8254A>G (p.Asn2752Asp) | |
2 | g.73490210A>T | CA347267993 | ALMS1 | c.7870A>T (p.Asn2624Tyr) c.1262A>T c.5322A>T c.2317A>T (p.Asn773Tyr) c.8251A>T (p.Asn2751Tyr) c.896-29565A>T c.3030+52A>T (n.3030+52A>T) c.8125A>T (p.Asn2709Tyr) n.2054A>T c.8254A>T (p.Asn2752Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490211A= | CA1260981696 | ALMS1 | c.7871A= (p.Asn2624=) c.1263A= c.5323A= c.2318A= (p.Asn773=) c.8252A= (p.Asn2751=) c.896-29564A= c.3030+53A= (n.3030+53A=) c.8126A= (p.Asn2709=) n.2055A= c.8255A= (p.Asn2752=) | |
2 | g.73490211A>C | CA347267995 | ALMS1 | c.7871A>C (p.Asn2624Thr) c.1263A>C c.5323A>C c.2318A>C (p.Asn773Thr) c.8252A>C (p.Asn2751Thr) c.896-29564A>C c.3030+53A>C (n.3030+53A>C) c.8126A>C (p.Asn2709Thr) n.2055A>C c.8255A>C (p.Asn2752Thr) | |
2 | g.73490211A>G | CA347267997 | ALMS1 | c.7871A>G (p.Asn2624Ser) c.1263A>G c.5323A>G c.2318A>G (p.Asn773Ser) c.8252A>G (p.Asn2751Ser) c.896-29564A>G c.3030+53A>G (n.3030+53A>G) c.8126A>G (p.Asn2709Ser) n.2055A>G c.8255A>G (p.Asn2752Ser) | ClinVar dbSNP gnomAD v4 |
2 | g.73490211A>T | CA347267998 | ALMS1 | c.7871A>T (p.Asn2624Ile) c.1263A>T c.5323A>T c.2318A>T (p.Asn773Ile) c.8252A>T (p.Asn2751Ile) c.896-29564A>T c.3030+53A>T (n.3030+53A>T) c.8126A>T (p.Asn2709Ile) n.2055A>T c.8255A>T (p.Asn2752Ile) | |
2 | g.73490212T>A | CA347268000 | ALMS1 | c.7872T>A (p.Asn2624Lys) c.1264T>A c.5324T>A c.2319T>A (p.Asn773Lys) c.8253T>A (p.Asn2751Lys) c.896-29563T>A c.3030+54T>A (n.3030+54T>A) c.8127T>A (p.Asn2709Lys) n.2056T>A c.8256T>A (p.Asn2752Lys) | |
2 | g.73490212T>C | CA427001301 | ALMS1 | c.7872T>C (p.Asn2624=) c.1264T>C c.5324T>C c.2319T>C (p.Asn773=) c.8253T>C (p.Asn2751=) c.896-29563T>C c.3030+54T>C (n.3030+54T>C) c.8127T>C (p.Asn2709=) n.2056T>C c.8256T>C (p.Asn2752=) | |
2 | g.73490212T>G | CA347268002 | ALMS1 | c.7872T>G (p.Asn2624Lys) c.1264T>G c.5324T>G c.2319T>G (p.Asn773Lys) c.8253T>G (p.Asn2751Lys) c.896-29563T>G c.3030+54T>G (n.3030+54T>G) c.8127T>G (p.Asn2709Lys) n.2056T>G c.8256T>G (p.Asn2752Lys) | |
2 | g.73490213T>A | CA347268006 | ALMS1 | c.7873T>A (p.Ser2625Thr) c.1265T>A c.5325T>A c.2320T>A (p.Ser774Thr) c.8254T>A (p.Ser2752Thr) c.896-29562T>A c.3030+55T>A (n.3030+55T>A) c.8128T>A (p.Ser2710Thr) n.2057T>A c.8257T>A (p.Ser2753Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490213T>C | CA347268005 | ALMS1 | c.7873T>C (p.Ser2625Pro) c.1265T>C c.5325T>C c.2320T>C (p.Ser774Pro) c.8254T>C (p.Ser2752Pro) c.896-29562T>C c.3030+55T>C (n.3030+55T>C) c.8128T>C (p.Ser2710Pro) n.2057T>C c.8257T>C (p.Ser2753Pro) | |
2 | g.73490213T>G | CA347268004 | ALMS1 | c.7873T>G (p.Ser2625Ala) c.1265T>G c.5325T>G c.2320T>G (p.Ser774Ala) c.8254T>G (p.Ser2752Ala) c.896-29562T>G c.3030+55T>G (n.3030+55T>G) c.8128T>G (p.Ser2710Ala) n.2057T>G c.8257T>G (p.Ser2753Ala) | |
2 | g.73490213T= | CA1260981698 | ALMS1 | c.7873T= (p.Ser2625=) c.1265T= c.5325T= c.2320T= (p.Ser774=) c.8254T= (p.Ser2752=) c.896-29562T= c.3030+55T= (n.3030+55T=) c.8128T= (p.Ser2710=) n.2057T= c.8257T= (p.Ser2753=) | |
2 | g.73490214C>A | CA347268008 | ALMS1 | c.7874C>A (p.Ser2625Tyr) c.1266C>A c.5326C>A c.2321C>A (p.Ser774Tyr) c.8255C>A (p.Ser2752Tyr) c.896-29561C>A c.3030+56C>A (n.3030+56C>A) c.8129C>A (p.Ser2710Tyr) n.2058C>A c.8258C>A (p.Ser2753Tyr) | |
2 | g.73490214C>G | CA347268010 | ALMS1 | c.7874C>G (p.Ser2625Cys) c.1266C>G c.5326C>G c.2321C>G (p.Ser774Cys) c.8255C>G (p.Ser2752Cys) c.896-29561C>G c.3030+56C>G (n.3030+56C>G) c.8129C>G (p.Ser2710Cys) n.2058C>G c.8258C>G (p.Ser2753Cys) | |
2 | g.73490214C>T | CA347268012 | ALMS1 | c.7874C>T (p.Ser2625Phe) c.1266C>T c.5326C>T c.2321C>T (p.Ser774Phe) c.8255C>T (p.Ser2752Phe) c.896-29561C>T c.3030+56C>T (n.3030+56C>T) c.8129C>T (p.Ser2710Phe) n.2058C>T c.8258C>T (p.Ser2753Phe) | |
2 | g.73490215T>A | CA427001312 | ALMS1 | c.7875T>A (p.Ser2625=) c.1267T>A c.5327T>A c.2322T>A (p.Ser774=) c.8256T>A (p.Ser2752=) c.896-29560T>A c.3030+57T>A (n.3030+57T>A) c.8130T>A (p.Ser2710=) n.2059T>A c.8259T>A (p.Ser2753=) | |
2 | g.73490215T>C | CA427001310 | ALMS1 | c.7875T>C (p.Ser2625=) c.1267T>C c.5327T>C c.2322T>C (p.Ser774=) c.8256T>C (p.Ser2752=) c.896-29560T>C c.3030+57T>C (n.3030+57T>C) c.8130T>C (p.Ser2710=) n.2059T>C c.8259T>C (p.Ser2753=) | |
2 | g.73490215T>G | CA427001308 | ALMS1 | c.7875T>G (p.Ser2625=) c.1267T>G c.5327T>G c.2322T>G (p.Ser774=) c.8256T>G (p.Ser2752=) c.896-29560T>G c.3030+57T>G (n.3030+57T>G) c.8130T>G (p.Ser2710=) n.2059T>G c.8259T>G (p.Ser2753=) | ClinVar dbSNP |
2 | g.73490216C>A | CA1714432 | ALMS1 | c.7876C>A (p.His2626Asn) c.1268C>A c.5328C>A c.2323C>A (p.His775Asn) c.8257C>A (p.His2753Asn) c.896-29559C>A c.3030+58C>A (n.3030+58C>A) c.8131C>A (p.His2711Asn) n.2060C>A c.8260C>A (p.His2754Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490216C= | CA1260981703 | ALMS1 | c.7876C= (p.His2626=) c.1268C= c.5328C= c.2323C= (p.His775=) c.8257C= (p.His2753=) c.896-29559C= c.3030+58C= (n.3030+58C=) c.8131C= (p.His2711=) n.2060C= c.8260C= (p.His2754=) | |
2 | g.73490216C>G | CA347268014 | ALMS1 | c.7876C>G (p.His2626Asp) c.1268C>G c.5328C>G c.2323C>G (p.His775Asp) c.8257C>G (p.His2753Asp) c.896-29559C>G c.3030+58C>G (n.3030+58C>G) c.8131C>G (p.His2711Asp) n.2060C>G c.8260C>G (p.His2754Asp) | |
2 | g.73490216C>T | CA1714433 | ALMS1 | c.7876C>T (p.His2626Tyr) c.1268C>T c.5328C>T c.2323C>T (p.His775Tyr) c.8257C>T (p.His2753Tyr) c.896-29559C>T c.3030+58C>T (n.3030+58C>T) c.8131C>T (p.His2711Tyr) n.2060C>T c.8260C>T (p.His2754Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490217A= | CA1260981706 | ALMS1 | c.7877A= (p.His2626=) c.1269A= c.5329A= c.2324A= (p.His775=) c.8258A= (p.His2753=) c.896-29558A= c.3030+59A= (n.3030+59A=) c.8132A= (p.His2711=) n.2061A= c.8261A= (p.His2754=) | |
2 | g.73490217A>C | CA347268016 | ALMS1 | c.7877A>C (p.His2626Pro) c.1269A>C c.5329A>C c.2324A>C (p.His775Pro) c.8258A>C (p.His2753Pro) c.896-29558A>C c.3030+59A>C (n.3030+59A>C) c.8132A>C (p.His2711Pro) n.2061A>C c.8261A>C (p.His2754Pro) | gnomAD v4 |
2 | g.73490217A>G | CA347268018 | ALMS1 | c.7877A>G (p.His2626Arg) c.1269A>G c.5329A>G c.2324A>G (p.His775Arg) c.8258A>G (p.His2753Arg) c.896-29558A>G c.3030+59A>G (n.3030+59A>G) c.8132A>G (p.His2711Arg) n.2061A>G c.8261A>G (p.His2754Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490217A>T | CA347268019 | ALMS1 | c.7877A>T (p.His2626Leu) c.1269A>T c.5329A>T c.2324A>T (p.His775Leu) c.8258A>T (p.His2753Leu) c.896-29558A>T c.3030+59A>T (n.3030+59A>T) c.8132A>T (p.His2711Leu) n.2061A>T c.8261A>T (p.His2754Leu) | |
2 | g.73490218T>A | CA347268021 | ALMS1 | c.7878T>A (p.His2626Gln) c.1270T>A c.5330T>A c.2325T>A (p.His775Gln) c.8259T>A (p.His2753Gln) c.896-29557T>A c.3030+60T>A (n.3030+60T>A) c.8133T>A (p.His2711Gln) n.2062T>A c.8262T>A (p.His2754Gln) | |
2 | g.73490218T>C | CA427001318 | ALMS1 | c.7878T>C (p.His2626=) c.1270T>C c.5330T>C c.2325T>C (p.His775=) c.8259T>C (p.His2753=) c.896-29557T>C c.3030+60T>C (n.3030+60T>C) c.8133T>C (p.His2711=) n.2062T>C c.8262T>C (p.His2754=) | ClinVar |
2 | g.73490218T>G | CA347268022 | ALMS1 | c.7878T>G (p.His2626Gln) c.1270T>G c.5330T>G c.2325T>G (p.His775Gln) c.8259T>G (p.His2753Gln) c.896-29557T>G c.3030+60T>G (n.3030+60T>G) c.8133T>G (p.His2711Gln) n.2062T>G c.8262T>G (p.His2754Gln) | |
2 | g.73490219T>A | CA347268025 | ALMS1 | c.7879T>A (p.Phe2627Ile) c.1271T>A c.5331T>A c.2326T>A (p.Phe776Ile) c.8260T>A (p.Phe2754Ile) c.896-29556T>A c.3030+61T>A (n.3030+61T>A) c.8134T>A (p.Phe2712Ile) n.2063T>A c.8263T>A (p.Phe2755Ile) | ClinVar |
2 | g.73490219T>C | CA347268027 | ALMS1 | c.7879T>C (p.Phe2627Leu) c.1271T>C c.5331T>C c.2326T>C (p.Phe776Leu) c.8260T>C (p.Phe2754Leu) c.896-29556T>C c.3030+61T>C (n.3030+61T>C) c.8134T>C (p.Phe2712Leu) n.2063T>C c.8263T>C (p.Phe2755Leu) | |
2 | g.73490219T>G | CA347268023 | ALMS1 | c.7879T>G (p.Phe2627Val) c.1271T>G c.5331T>G c.2326T>G (p.Phe776Val) c.8260T>G (p.Phe2754Val) c.896-29556T>G c.3030+61T>G (n.3030+61T>G) c.8134T>G (p.Phe2712Val) n.2063T>G c.8263T>G (p.Phe2755Val) | |
2 | g.73490219_73490226del | CA2750465616 | ALMS1 | c.7879_7886del (p.Phe2627ArgfsTer9) c.1271_1278del c.5331_5338del c.2326_2333del (p.Phe776ArgfsTer9) c.8260_8267del (p.Phe2754ArgfsTer9) c.896-29556_896-29549del c.3030+61_3030+68del (n.3030+61_3030+68del) c.8134_8141del (p.Phe2712ArgfsTer9) n.2063_2070del c.8263_8270del (p.Phe2755ArgfsTer9) | |
2 | g.73490220T>A | CA347268029 | ALMS1 | c.7880T>A (p.Phe2627Tyr) c.1272T>A c.5332T>A c.2327T>A (p.Phe776Tyr) c.8261T>A (p.Phe2754Tyr) c.896-29555T>A c.3030+62T>A (n.3030+62T>A) c.8135T>A (p.Phe2712Tyr) n.2064T>A c.8264T>A (p.Phe2755Tyr) | gnomAD v4 |
2 | g.73490220T>C | CA347268030 | ALMS1 | c.7880T>C (p.Phe2627Ser) c.1272T>C c.5332T>C c.2327T>C (p.Phe776Ser) c.8261T>C (p.Phe2754Ser) c.896-29555T>C c.3030+62T>C (n.3030+62T>C) c.8135T>C (p.Phe2712Ser) n.2064T>C c.8264T>C (p.Phe2755Ser) | |
2 | g.73490220T>G | CA347268031 | ALMS1 | c.7880T>G (p.Phe2627Cys) c.1272T>G c.5332T>G c.2327T>G (p.Phe776Cys) c.8261T>G (p.Phe2754Cys) c.896-29555T>G c.3030+62T>G (n.3030+62T>G) c.8135T>G (p.Phe2712Cys) n.2064T>G c.8264T>G (p.Phe2755Cys) | |
2 | g.73490221C>A | CA347268033 | ALMS1 | c.7881C>A (p.Phe2627Leu) c.1273C>A c.5333C>A c.2328C>A (p.Phe776Leu) c.8262C>A (p.Phe2754Leu) c.896-29554C>A c.3030+63C>A (n.3030+63C>A) c.8136C>A (p.Phe2712Leu) n.2065C>A c.8265C>A (p.Phe2755Leu) | |
2 | g.73490221C>G | CA347268035 | ALMS1 | c.7881C>G (p.Phe2627Leu) c.1273C>G c.5333C>G c.2328C>G (p.Phe776Leu) c.8262C>G (p.Phe2754Leu) c.896-29554C>G c.3030+63C>G (n.3030+63C>G) c.8136C>G (p.Phe2712Leu) n.2065C>G c.8265C>G (p.Phe2755Leu) | |
2 | g.73490221C>T | CA427001325 | ALMS1 | c.7881C>T (p.Phe2627=) c.1273C>T c.5333C>T c.2328C>T (p.Phe776=) c.8262C>T (p.Phe2754=) c.896-29554C>T c.3030+63C>T (n.3030+63C>T) c.8136C>T (p.Phe2712=) n.2065C>T c.8265C>T (p.Phe2755=) | |
2 | g.73490222A>C | CA347268036 | ALMS1 | c.7882A>C (p.Thr2628Pro) c.1274A>C c.5334A>C c.2329A>C (p.Thr777Pro) c.8263A>C (p.Thr2755Pro) c.896-29553A>C c.3030+64A>C (n.3030+64A>C) c.8137A>C (p.Thr2713Pro) n.2066A>C c.8266A>C (p.Thr2756Pro) | |
2 | g.73490222A>G | CA347268038 | ALMS1 | c.7882A>G (p.Thr2628Ala) c.1274A>G c.5334A>G c.2329A>G (p.Thr777Ala) c.8263A>G (p.Thr2755Ala) c.896-29553A>G c.3030+64A>G (n.3030+64A>G) c.8137A>G (p.Thr2713Ala) n.2066A>G c.8266A>G (p.Thr2756Ala) | |
2 | g.73490222A>T | CA347268039 | ALMS1 | c.7882A>T (p.Thr2628Ser) c.1274A>T c.5334A>T c.2329A>T (p.Thr777Ser) c.8263A>T (p.Thr2755Ser) c.896-29553A>T c.3030+64A>T (n.3030+64A>T) c.8137A>T (p.Thr2713Ser) n.2066A>T c.8266A>T (p.Thr2756Ser) | |
2 | g.73490223C>A | CA347268041 | ALMS1 | c.7883C>A (p.Thr2628Asn) c.1275C>A c.5335C>A c.2330C>A (p.Thr777Asn) c.8264C>A (p.Thr2755Asn) c.896-29552C>A c.3030+65C>A (n.3030+65C>A) c.8138C>A (p.Thr2713Asn) n.2067C>A c.8267C>A (p.Thr2756Asn) | |
2 | g.73490223C= | CA1260981710 | ALMS1 | c.7883C= (p.Thr2628=) c.1275C= c.5335C= c.2330C= (p.Thr777=) c.8264C= (p.Thr2755=) c.896-29552C= c.3030+65C= (n.3030+65C=) c.8138C= (p.Thr2713=) n.2067C= c.8267C= (p.Thr2756=) | |
2 | g.73490223C>G | CA347268043 | ALMS1 | c.7883C>G (p.Thr2628Ser) c.1275C>G c.5335C>G c.2330C>G (p.Thr777Ser) c.8264C>G (p.Thr2755Ser) c.896-29552C>G c.3030+65C>G (n.3030+65C>G) c.8138C>G (p.Thr2713Ser) n.2067C>G c.8267C>G (p.Thr2756Ser) | |
2 | g.73490223C>T | CA50378341 | ALMS1 | c.7883C>T (p.Thr2628Ile) c.1275C>T c.5335C>T c.2330C>T (p.Thr777Ile) c.8264C>T (p.Thr2755Ile) c.896-29552C>T c.3030+65C>T (n.3030+65C>T) c.8138C>T (p.Thr2713Ile) n.2067C>T c.8267C>T (p.Thr2756Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490224T>A | CA427001331 | ALMS1 | c.7884T>A (p.Thr2628=) c.1276T>A c.5336T>A c.2331T>A (p.Thr777=) c.8265T>A (p.Thr2755=) c.896-29551T>A c.3030+66T>A (n.3030+66T>A) c.8139T>A (p.Thr2713=) n.2068T>A c.8268T>A (p.Thr2756=) | |
2 | g.73490224T>C | CA427001333 | ALMS1 | c.7884T>C (p.Thr2628=) c.1276T>C c.5336T>C c.2331T>C (p.Thr777=) c.8265T>C (p.Thr2755=) c.896-29551T>C c.3030+66T>C (n.3030+66T>C) c.8139T>C (p.Thr2713=) n.2068T>C c.8268T>C (p.Thr2756=) | gnomAD v4 |
2 | g.73490224T>G | CA427001334 | ALMS1 | c.7884T>G (p.Thr2628=) c.1276T>G c.5336T>G c.2331T>G (p.Thr777=) c.8265T>G (p.Thr2755=) c.896-29551T>G c.3030+66T>G (n.3030+66T>G) c.8139T>G (p.Thr2713=) n.2068T>G c.8268T>G (p.Thr2756=) | |
2 | g.73490225G>A | CA347268047 | ALMS1 | c.7885G>A (p.Glu2629Lys) c.1277G>A c.5337G>A c.2332G>A (p.Glu778Lys) c.8266G>A (p.Glu2756Lys) c.896-29550G>A c.3030+67G>A (n.3030+67G>A) c.8140G>A (p.Glu2714Lys) n.2069G>A c.8269G>A (p.Glu2757Lys) | ClinVar |
2 | g.73490225G>C | CA347268048 | ALMS1 | c.7885G>C (p.Glu2629Gln) c.1277G>C c.5337G>C c.2332G>C (p.Glu778Gln) c.8266G>C (p.Glu2756Gln) c.896-29550G>C c.3030+67G>C (n.3030+67G>C) c.8140G>C (p.Glu2714Gln) n.2069G>C c.8269G>C (p.Glu2757Gln) | |
2 | g.73490225G>T | CA347268045 | ALMS1 | c.7885G>T (p.Glu2629Ter) c.1277G>T c.5337G>T c.2332G>T (p.Glu778Ter) c.8266G>T (p.Glu2756Ter) c.896-29550G>T c.3030+67G>T (n.3030+67G>T) c.8140G>T (p.Glu2714Ter) n.2069G>T c.8269G>T (p.Glu2757Ter) | |
2 | g.73490226A>C | CA347268050 | ALMS1 | c.7886A>C (p.Glu2629Ala) c.1278A>C c.5338A>C c.2333A>C (p.Glu778Ala) c.8267A>C (p.Glu2756Ala) c.896-29549A>C c.3030+68A>C (n.3030+68A>C) c.8141A>C (p.Glu2714Ala) n.2070A>C c.8270A>C (p.Glu2757Ala) | |
2 | g.73490226A>G | CA347268051 | ALMS1 | c.7886A>G (p.Glu2629Gly) c.1278A>G c.5338A>G c.2333A>G (p.Glu778Gly) c.8267A>G (p.Glu2756Gly) c.896-29549A>G c.3030+68A>G (n.3030+68A>G) c.8141A>G (p.Glu2714Gly) n.2070A>G c.8270A>G (p.Glu2757Gly) | ClinVar |
2 | g.73490226A>T | CA347268053 | ALMS1 | c.7886A>T (p.Glu2629Val) c.1278A>T c.5338A>T c.2333A>T (p.Glu778Val) c.8267A>T (p.Glu2756Val) c.896-29549A>T c.3030+68A>T (n.3030+68A>T) c.8141A>T (p.Glu2714Val) n.2070A>T c.8270A>T (p.Glu2757Val) | |
2 | g.73490227A= | CA1260981715 | ALMS1 | c.7887A= (p.Glu2629=) c.1279A= c.5339A= c.2334A= (p.Glu778=) c.8268A= (p.Glu2756=) c.896-29548A= c.3030+69A= (n.3030+69A=) c.8142A= (p.Glu2714=) n.2071A= c.8271A= (p.Glu2757=) | |
2 | g.73490227A>C | CA347268055 | ALMS1 | c.7887A>C (p.Glu2629Asp) c.1279A>C c.5339A>C c.2334A>C (p.Glu778Asp) c.8268A>C (p.Glu2756Asp) c.896-29548A>C c.3030+69A>C (n.3030+69A>C) c.8142A>C (p.Glu2714Asp) n.2071A>C c.8271A>C (p.Glu2757Asp) | |
2 | g.73490227A>G | CA10586838 | ALMS1 | c.7887A>G (p.Glu2629=) c.1279A>G c.5339A>G c.2334A>G (p.Glu778=) c.8268A>G (p.Glu2756=) c.896-29548A>G c.3030+69A>G (n.3030+69A>G) c.8142A>G (p.Glu2714=) n.2071A>G c.8271A>G (p.Glu2757=) | ClinVar dbSNP |
2 | g.73490227A>T | CA347268057 | ALMS1 | c.7887A>T (p.Glu2629Asp) c.1279A>T c.5339A>T c.2334A>T (p.Glu778Asp) c.8268A>T (p.Glu2756Asp) c.896-29548A>T c.3030+69A>T (n.3030+69A>T) c.8142A>T (p.Glu2714Asp) n.2071A>T c.8271A>T (p.Glu2757Asp) | gnomAD v4 |
2 | g.73490228G>A | CA347268059 | ALMS1 | c.7888G>A (p.Glu2630Lys) c.1280G>A c.5340G>A c.2335G>A (p.Glu779Lys) c.8269G>A (p.Glu2757Lys) c.896-29547G>A c.3030+70G>A (n.3030+70G>A) c.8143G>A (p.Glu2715Lys) n.2072G>A c.8272G>A (p.Glu2758Lys) | gnomAD v4 |
2 | g.73490228G>C | CA347268062 | ALMS1 | c.7888G>C (p.Glu2630Gln) c.1280G>C c.5340G>C c.2335G>C (p.Glu779Gln) c.8269G>C (p.Glu2757Gln) c.896-29547G>C c.3030+70G>C (n.3030+70G>C) c.8143G>C (p.Glu2715Gln) n.2072G>C c.8272G>C (p.Glu2758Gln) | |
2 | g.73490228G>T | CA347268061 | ALMS1 | c.7888G>T (p.Glu2630Ter) c.1280G>T c.5340G>T c.2335G>T (p.Glu779Ter) c.8269G>T (p.Glu2757Ter) c.896-29547G>T c.3030+70G>T (n.3030+70G>T) c.8143G>T (p.Glu2715Ter) n.2072G>T c.8272G>T (p.Glu2758Ter) | |
2 | g.73490229A= | CA1260981716 | ALMS1 | c.7889A= (p.Glu2630=) c.1281A= c.5341A= c.2336A= (p.Glu779=) c.8270A= (p.Glu2757=) c.896-29546A= c.3030+71A= (n.3030+71A=) c.8144A= (p.Glu2715=) n.2073A= c.8273A= (p.Glu2758=) | |
2 | g.73490229A>C | CA347268064 | ALMS1 | c.7889A>C (p.Glu2630Ala) c.1281A>C c.5341A>C c.2336A>C (p.Glu779Ala) c.8270A>C (p.Glu2757Ala) c.896-29546A>C c.3030+71A>C (n.3030+71A>C) c.8144A>C (p.Glu2715Ala) n.2073A>C c.8273A>C (p.Glu2758Ala) | dbSNP |
2 | g.73490229A>G | CA347268065 | ALMS1 | c.7889A>G (p.Glu2630Gly) c.1281A>G c.5341A>G c.2336A>G (p.Glu779Gly) c.8270A>G (p.Glu2757Gly) c.896-29546A>G c.3030+71A>G (n.3030+71A>G) c.8144A>G (p.Glu2715Gly) n.2073A>G c.8273A>G (p.Glu2758Gly) | |
2 | g.73490229A>T | CA347268067 | ALMS1 | c.7889A>T (p.Glu2630Val) c.1281A>T c.5341A>T c.2336A>T (p.Glu779Val) c.8270A>T (p.Glu2757Val) c.896-29546A>T c.3030+71A>T (n.3030+71A>T) c.8144A>T (p.Glu2715Val) n.2073A>T c.8273A>T (p.Glu2758Val) | |
2 | g.73490230A>C | CA347268069 | ALMS1 | c.7890A>C (p.Glu2630Asp) c.1282A>C c.5342A>C c.2337A>C (p.Glu779Asp) c.8271A>C (p.Glu2757Asp) c.896-29545A>C c.3030+72A>C (n.3030+72A>C) c.8145A>C (p.Glu2715Asp) n.2074A>C c.8274A>C (p.Glu2758Asp) | |
2 | g.73490230A>G | CA427001350 | ALMS1 | c.7890A>G (p.Glu2630=) c.1282A>G c.5342A>G c.2337A>G (p.Glu779=) c.8271A>G (p.Glu2757=) c.896-29545A>G c.3030+72A>G (n.3030+72A>G) c.8145A>G (p.Glu2715=) n.2074A>G c.8274A>G (p.Glu2758=) | gnomAD v4 |
2 | g.73490230A>T | CA347268070 | ALMS1 | c.7890A>T (p.Glu2630Asp) c.1282A>T c.5342A>T c.2337A>T (p.Glu779Asp) c.8271A>T (p.Glu2757Asp) c.896-29545A>T c.3030+72A>T (n.3030+72A>T) c.8145A>T (p.Glu2715Asp) n.2074A>T c.8274A>T (p.Glu2758Asp) | gnomAD v4 |
2 | g.73490231C>A | CA347268073 | ALMS1 | c.7891C>A (p.Gln2631Lys) c.1283C>A c.5343C>A c.2338C>A (p.Gln780Lys) c.8272C>A (p.Gln2758Lys) c.896-29544C>A c.3030+73C>A (n.3030+73C>A) c.8146C>A (p.Gln2716Lys) n.2075C>A c.8275C>A (p.Gln2759Lys) | ClinVar dbSNP |
2 | g.73490231C= | CA1260981718 | ALMS1 | c.7891C= (p.Gln2631=) c.1283C= c.5343C= c.2338C= (p.Gln780=) c.8272C= (p.Gln2758=) c.896-29544C= c.3030+73C= (n.3030+73C=) c.8146C= (p.Gln2716=) n.2075C= c.8275C= (p.Gln2759=) | |
2 | g.73490231C>G | CA347268074 | ALMS1 | c.7891C>G (p.Gln2631Glu) c.1283C>G c.5343C>G c.2338C>G (p.Gln780Glu) c.8272C>G (p.Gln2758Glu) c.896-29544C>G c.3030+73C>G (n.3030+73C>G) c.8146C>G (p.Gln2716Glu) n.2075C>G c.8275C>G (p.Gln2759Glu) | |
2 | g.73490231C>T | CA1714434 | ALMS1 | c.7891C>T (p.Gln2631Ter) c.1283C>T c.5343C>T c.2338C>T (p.Gln780Ter) c.8272C>T (p.Gln2758Ter) c.896-29544C>T c.3030+73C>T (n.3030+73C>T) c.8146C>T (p.Gln2716Ter) n.2075C>T c.8275C>T (p.Gln2759Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490232A= | CA1260981725 | ALMS1 | c.7892A= (p.Gln2631=) c.1284A= c.5344A= c.2339A= (p.Gln780=) c.8273A= (p.Gln2758=) c.896-29543A= c.3030+74A= (n.3030+74A=) c.8147A= (p.Gln2716=) n.2076A= c.8276A= (p.Gln2759=) | |
2 | g.73490232A>C | CA347268079 | ALMS1 | c.7892A>C (p.Gln2631Pro) c.1284A>C c.5344A>C c.2339A>C (p.Gln780Pro) c.8273A>C (p.Gln2758Pro) c.896-29543A>C c.3030+74A>C (n.3030+74A>C) c.8147A>C (p.Gln2716Pro) n.2076A>C c.8276A>C (p.Gln2759Pro) | |
2 | g.73490232A>G | CA347268077 | ALMS1 | c.7892A>G (p.Gln2631Arg) c.1284A>G c.5344A>G c.2339A>G (p.Gln780Arg) c.8273A>G (p.Gln2758Arg) c.896-29543A>G c.3030+74A>G (n.3030+74A>G) c.8147A>G (p.Gln2716Arg) n.2076A>G c.8276A>G (p.Gln2759Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490232A>T | CA347268080 | ALMS1 | c.7892A>T (p.Gln2631Leu) c.1284A>T c.5344A>T c.2339A>T (p.Gln780Leu) c.8273A>T (p.Gln2758Leu) c.896-29543A>T c.3030+74A>T (n.3030+74A>T) c.8147A>T (p.Gln2716Leu) n.2076A>T c.8276A>T (p.Gln2759Leu) | |
2 | g.73490233A= | CA1260981733 | ALMS1 | c.7893A= (p.Gln2631=) c.1285A= c.5345A= c.2340A= (p.Gln780=) c.8274A= (p.Gln2758=) c.896-29542A= c.3030+75A= (n.3030+75A=) c.8148A= (p.Gln2716=) n.2077A= c.8277A= (p.Gln2759=) | |
2 | g.73490233A>C | CA347268081 | ALMS1 | c.7893A>C (p.Gln2631His) c.1285A>C c.5345A>C c.2340A>C (p.Gln780His) c.8274A>C (p.Gln2758His) c.896-29542A>C c.3030+75A>C (n.3030+75A>C) c.8148A>C (p.Gln2716His) n.2077A>C c.8277A>C (p.Gln2759His) | |
2 | g.73490233A>G | CA1714435 | ALMS1 | c.7893A>G (p.Gln2631=) c.1285A>G c.5345A>G c.2340A>G (p.Gln780=) c.8274A>G (p.Gln2758=) c.896-29542A>G c.3030+75A>G (n.3030+75A>G) c.8148A>G (p.Gln2716=) n.2077A>G c.8277A>G (p.Gln2759=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490233A>T | CA347268082 | ALMS1 | c.7893A>T (p.Gln2631His) c.1285A>T c.5345A>T c.2340A>T (p.Gln780His) c.8274A>T (p.Gln2758His) c.896-29542A>T c.3030+75A>T (n.3030+75A>T) c.8148A>T (p.Gln2716His) n.2077A>T c.8277A>T (p.Gln2759His) | |
2 | g.73490234A>C | CA347268084 | ALMS1 | c.7894A>C (p.Asn2632His) c.1286A>C c.5346A>C c.2341A>C (p.Asn781His) c.8275A>C (p.Asn2759His) c.896-29541A>C c.3030+76A>C (n.3030+76A>C) c.8149A>C (p.Asn2717His) n.2078A>C c.8278A>C (p.Asn2760His) | gnomAD v4 |
2 | g.73490234A>G | CA347268086 | ALMS1 | c.7894A>G (p.Asn2632Asp) c.1286A>G c.5346A>G c.2341A>G (p.Asn781Asp) c.8275A>G (p.Asn2759Asp) c.896-29541A>G c.3030+76A>G (n.3030+76A>G) c.8149A>G (p.Asn2717Asp) n.2078A>G c.8278A>G (p.Asn2760Asp) | |
2 | g.73490234A>T | CA347268087 | ALMS1 | c.7894A>T (p.Asn2632Tyr) c.1286A>T c.5346A>T c.2341A>T (p.Asn781Tyr) c.8275A>T (p.Asn2759Tyr) c.896-29541A>T c.3030+76A>T (n.3030+76A>T) c.8149A>T (p.Asn2717Tyr) n.2078A>T c.8278A>T (p.Asn2760Tyr) | ClinVar |
2 | g.73490235A>C | CA347268092 | ALMS1 | c.7895A>C (p.Asn2632Thr) c.1287A>C c.5347A>C c.2342A>C (p.Asn781Thr) c.8276A>C (p.Asn2759Thr) c.896-29540A>C c.3030+77A>C (n.3030+77A>C) c.8150A>C (p.Asn2717Thr) n.2079A>C c.8279A>C (p.Asn2760Thr) | |
2 | g.73490235A>G | CA347268089 | ALMS1 | c.7895A>G (p.Asn2632Ser) c.1287A>G c.5347A>G c.2342A>G (p.Asn781Ser) c.8276A>G (p.Asn2759Ser) c.896-29540A>G c.3030+77A>G (n.3030+77A>G) c.8150A>G (p.Asn2717Ser) n.2079A>G c.8279A>G (p.Asn2760Ser) | gnomAD v4 |
2 | g.73490235A>T | CA347268091 | ALMS1 | c.7895A>T (p.Asn2632Ile) c.1287A>T c.5347A>T c.2342A>T (p.Asn781Ile) c.8276A>T (p.Asn2759Ile) c.896-29540A>T c.3030+77A>T (n.3030+77A>T) c.8150A>T (p.Asn2717Ile) n.2079A>T c.8279A>T (p.Asn2760Ile) | |
2 | g.73490236T>A | CA347268094 | ALMS1 | c.7896T>A (p.Asn2632Lys) c.1288T>A c.5348T>A c.2343T>A (p.Asn781Lys) c.8277T>A (p.Asn2759Lys) c.896-29539T>A c.3030+78T>A (n.3030+78T>A) c.8151T>A (p.Asn2717Lys) n.2080T>A c.8280T>A (p.Asn2760Lys) | |
2 | g.73490236T>C | CA427001370 | ALMS1 | c.7896T>C (p.Asn2632=) c.1288T>C c.5348T>C c.2343T>C (p.Asn781=) c.8277T>C (p.Asn2759=) c.896-29539T>C c.3030+78T>C (n.3030+78T>C) c.8151T>C (p.Asn2717=) n.2080T>C c.8280T>C (p.Asn2760=) | |
2 | g.73490236T>G | CA347268095 | ALMS1 | c.7896T>G (p.Asn2632Lys) c.1288T>G c.5348T>G c.2343T>G (p.Asn781Lys) c.8277T>G (p.Asn2759Lys) c.896-29539T>G c.3030+78T>G (n.3030+78T>G) c.8151T>G (p.Asn2717Lys) n.2080T>G c.8280T>G (p.Asn2760Lys) | |
2 | g.73490237C>A | CA347268097 | ALMS1 | c.7897C>A (p.Pro2633Thr) c.1289C>A c.5349C>A c.2344C>A (p.Pro782Thr) c.8278C>A (p.Pro2760Thr) c.896-29538C>A c.3030+79C>A (n.3030+79C>A) c.8152C>A (p.Pro2718Thr) n.2081C>A c.8281C>A (p.Pro2761Thr) | |
2 | g.73490237C= | CA1260981737 | ALMS1 | c.7897C= (p.Pro2633=) c.1289C= c.5349C= c.2344C= (p.Pro782=) c.8278C= (p.Pro2760=) c.896-29538C= c.3030+79C= (n.3030+79C=) c.8152C= (p.Pro2718=) n.2081C= c.8281C= (p.Pro2761=) | |
2 | g.73490237C>G | CA347268098 | ALMS1 | c.7897C>G (p.Pro2633Ala) c.1289C>G c.5349C>G c.2344C>G (p.Pro782Ala) c.8278C>G (p.Pro2760Ala) c.896-29538C>G c.3030+79C>G (n.3030+79C>G) c.8152C>G (p.Pro2718Ala) n.2081C>G c.8281C>G (p.Pro2761Ala) | |
2 | g.73490237C>T | CA1714436 | ALMS1 | c.7897C>T (p.Pro2633Ser) c.1289C>T c.5349C>T c.2344C>T (p.Pro782Ser) c.8278C>T (p.Pro2760Ser) c.896-29538C>T c.3030+79C>T (n.3030+79C>T) c.8152C>T (p.Pro2718Ser) n.2081C>T c.8281C>T (p.Pro2761Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490238C>A | CA1714438 | ALMS1 | c.7898C>A (p.Pro2633His) c.1290C>A c.5350C>A c.2345C>A (p.Pro782His) c.8279C>A (p.Pro2760His) c.896-29537C>A c.3030+80C>A (n.3030+80C>A) c.8153C>A (p.Pro2718His) n.2082C>A c.8282C>A (p.Pro2761His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490238C= | CA1260981741 | ALMS1 | c.7898C= (p.Pro2633=) c.1290C= c.5350C= c.2345C= (p.Pro782=) c.8279C= (p.Pro2760=) c.896-29537C= c.3030+80C= (n.3030+80C=) c.8153C= (p.Pro2718=) n.2082C= c.8282C= (p.Pro2761=) | |
2 | g.73490238C>G | CA1714437 | ALMS1 | c.7898C>G (p.Pro2633Arg) c.1290C>G c.5350C>G c.2345C>G (p.Pro782Arg) c.8279C>G (p.Pro2760Arg) c.896-29537C>G c.3030+80C>G (n.3030+80C>G) c.8153C>G (p.Pro2718Arg) n.2082C>G c.8282C>G (p.Pro2761Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490238C>T | CA347268102 | ALMS1 | c.7898C>T (p.Pro2633Leu) c.1290C>T c.5350C>T c.2345C>T (p.Pro782Leu) c.8279C>T (p.Pro2760Leu) c.896-29537C>T c.3030+80C>T (n.3030+80C>T) c.8153C>T (p.Pro2718Leu) n.2082C>T c.8282C>T (p.Pro2761Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490239T>A | CA427001380 | ALMS1 | c.7899T>A (p.Pro2633=) c.1291T>A c.5351T>A c.2346T>A (p.Pro782=) c.8280T>A (p.Pro2760=) c.896-29536T>A c.3030+81T>A (n.3030+81T>A) c.8154T>A (p.Pro2718=) n.2083T>A c.8283T>A (p.Pro2761=) | |
2 | g.73490239T>C | CA427001382 | ALMS1 | c.7899T>C (p.Pro2633=) c.1291T>C c.5351T>C c.2346T>C (p.Pro782=) c.8280T>C (p.Pro2760=) c.896-29536T>C c.3030+81T>C (n.3030+81T>C) c.8154T>C (p.Pro2718=) n.2083T>C c.8283T>C (p.Pro2761=) | |
2 | g.73490239T>G | CA427001384 | ALMS1 | c.7899T>G (p.Pro2633=) c.1291T>G c.5351T>G c.2346T>G (p.Pro782=) c.8280T>G (p.Pro2760=) c.896-29536T>G c.3030+81T>G (n.3030+81T>G) c.8154T>G (p.Pro2718=) n.2083T>G c.8283T>G (p.Pro2761=) | |
2 | g.73490240C>A | CA347268104 | ALMS1 | c.7900C>A (p.Pro2634Thr) c.1292C>A c.5352C>A c.2347C>A (p.Pro783Thr) c.8281C>A (p.Pro2761Thr) c.896-29535C>A c.3030+82C>A (n.3030+82C>A) c.8155C>A (p.Pro2719Thr) n.2084C>A c.8284C>A (p.Pro2762Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490240C= | CA1260981747 | ALMS1 | c.7900C= (p.Pro2634=) c.1292C= c.5352C= c.2347C= (p.Pro783=) c.8281C= (p.Pro2761=) c.896-29535C= c.3030+82C= (n.3030+82C=) c.8155C= (p.Pro2719=) n.2084C= c.8284C= (p.Pro2762=) | |
2 | g.73490240C>G | CA1714439 | ALMS1 | c.7900C>G (p.Pro2634Ala) c.1292C>G c.5352C>G c.2347C>G (p.Pro783Ala) c.8281C>G (p.Pro2761Ala) c.896-29535C>G c.3030+82C>G (n.3030+82C>G) c.8155C>G (p.Pro2719Ala) n.2084C>G c.8284C>G (p.Pro2762Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490240C>T | CA1714440 | ALMS1 | c.7900C>T (p.Pro2634Ser) c.1292C>T c.5352C>T c.2347C>T (p.Pro783Ser) c.8281C>T (p.Pro2761Ser) c.896-29535C>T c.3030+82C>T (n.3030+82C>T) c.8155C>T (p.Pro2719Ser) n.2084C>T c.8284C>T (p.Pro2762Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490240_73490242delinsACT | CA2580068250 | ALMS1 | c.7900_7902delinsACT (p.Pro2634Thr) c.1292_1294delinsACT c.5352_5354delinsACT c.2347_2349delinsACT (p.Pro783Thr) c.8281_8283delinsACT (p.Pro2761Thr) c.896-29535_896-29533delinsACT c.3030+82_3030+84delinsACT (n.3030+82_3030+84delinsACT) c.8155_8157delinsACT (p.Pro2719Thr) n.2084_2086delinsACT c.8284_8286delinsACT (p.Pro2762Thr) | ClinVar |
2 | g.73490241C>A | CA347268107 | ALMS1 | c.7901C>A (p.Pro2634His) c.1293C>A c.5353C>A c.2348C>A (p.Pro783His) c.8282C>A (p.Pro2761His) c.896-29534C>A c.3030+83C>A (n.3030+83C>A) c.8156C>A (p.Pro2719His) n.2085C>A c.8285C>A (p.Pro2762His) | |
2 | g.73490241C>G | CA347268108 | ALMS1 | c.7901C>G (p.Pro2634Arg) c.1293C>G c.5353C>G c.2348C>G (p.Pro783Arg) c.8282C>G (p.Pro2761Arg) c.896-29534C>G c.3030+83C>G (n.3030+83C>G) c.8156C>G (p.Pro2719Arg) n.2085C>G c.8285C>G (p.Pro2762Arg) | |
2 | g.73490241C>T | CA347268109 | ALMS1 | c.7901C>T (p.Pro2634Leu) c.1293C>T c.5353C>T c.2348C>T (p.Pro783Leu) c.8282C>T (p.Pro2761Leu) c.896-29534C>T c.3030+83C>T (n.3030+83C>T) c.8156C>T (p.Pro2719Leu) n.2085C>T c.8285C>T (p.Pro2762Leu) | gnomAD v4 |
2 | g.73490242C>A | CA427001391 | ALMS1 | c.7902C>A (p.Pro2634=) c.1294C>A c.5354C>A c.2349C>A (p.Pro783=) c.8283C>A (p.Pro2761=) c.896-29533C>A c.3030+84C>A (n.3030+84C>A) c.8157C>A (p.Pro2719=) n.2086C>A c.8286C>A (p.Pro2762=) | |
2 | g.73490242C= | CA1260981755 | ALMS1 | c.7902C= (p.Pro2634=) c.1294C= c.5354C= c.2349C= (p.Pro783=) c.8283C= (p.Pro2761=) c.896-29533C= c.3030+84C= (n.3030+84C=) c.8157C= (p.Pro2719=) n.2086C= c.8286C= (p.Pro2762=) | |
2 | g.73490242C>G | CA427001393 | ALMS1 | c.7902C>G (p.Pro2634=) c.1294C>G c.5354C>G c.2349C>G (p.Pro783=) c.8283C>G (p.Pro2761=) c.896-29533C>G c.3030+84C>G (n.3030+84C>G) c.8157C>G (p.Pro2719=) n.2086C>G c.8286C>G (p.Pro2762=) | |
2 | g.73490242C>T | CA427001395 | ALMS1 | c.7902C>T (p.Pro2634=) c.1294C>T c.5354C>T c.2349C>T (p.Pro783=) c.8283C>T (p.Pro2761=) c.896-29533C>T c.3030+84C>T (n.3030+84C>T) c.8157C>T (p.Pro2719=) n.2086C>T c.8286C>T (p.Pro2762=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490242_73490244del | CA2750465617 | ALMS1 | c.7902_7904del (p.Arg2635del) c.1294_1296del c.5354_5356del c.2349_2351del (p.Arg784del) c.8283_8285del (p.Arg2762del) c.896-29533_896-29531del c.3030+84_3030+86del (n.3030+84_3030+86del) c.8157_8159del (p.Arg2720del) n.2086_2088del c.8286_8288del (p.Arg2763del) | |
2 | g.73490243A= | CA1260981767 | ALMS1 | c.7903A= (p.Arg2635=) c.1295A= c.5355A= c.2350A= (p.Arg784=) c.8284A= (p.Arg2762=) c.896-29532A= c.3030+85A= (n.3030+85A=) c.8158A= (p.Arg2720=) n.2087A= c.8287A= (p.Arg2763=) | |
2 | g.73490243A>C | CA427001397 | ALMS1 | c.7903A>C (p.Arg2635=) c.1295A>C c.5355A>C c.2350A>C (p.Arg784=) c.8284A>C (p.Arg2762=) c.896-29532A>C c.3030+85A>C (n.3030+85A>C) c.8158A>C (p.Arg2720=) n.2087A>C c.8287A>C (p.Arg2763=) | |
2 | g.73490243A>G | CA347268110 | ALMS1 | c.7903A>G (p.Arg2635Gly) c.1295A>G c.5355A>G c.2350A>G (p.Arg784Gly) c.8284A>G (p.Arg2762Gly) c.896-29532A>G c.3030+85A>G (n.3030+85A>G) c.8158A>G (p.Arg2720Gly) n.2087A>G c.8287A>G (p.Arg2763Gly) | |
2 | g.73490243A>T | CA347268111 | ALMS1 | c.7903A>T (p.Arg2635Ter) c.1295A>T c.5355A>T c.2350A>T (p.Arg784Ter) c.8284A>T (p.Arg2762Ter) c.896-29532A>T c.3030+85A>T (n.3030+85A>T) c.8158A>T (p.Arg2720Ter) n.2087A>T c.8287A>T (p.Arg2763Ter) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490244G>A | CA347268113 | ALMS1 | c.7904G>A (p.Arg2635Lys) c.1296G>A c.5356G>A c.2351G>A (p.Arg784Lys) c.8285G>A (p.Arg2762Lys) c.896-29531G>A c.3030+86G>A (n.3030+86G>A) c.8159G>A (p.Arg2720Lys) n.2088G>A c.8288G>A (p.Arg2763Lys) | |
2 | g.73490244G>C | CA347268115 | ALMS1 | c.7904G>C (p.Arg2635Thr) c.1296G>C c.5356G>C c.2351G>C (p.Arg784Thr) c.8285G>C (p.Arg2762Thr) c.896-29531G>C c.3030+86G>C (n.3030+86G>C) c.8159G>C (p.Arg2720Thr) n.2088G>C c.8288G>C (p.Arg2763Thr) | |
2 | g.73490244G>T | CA347268116 | ALMS1 | c.7904G>T (p.Arg2635Ile) c.1296G>T c.5356G>T c.2351G>T (p.Arg784Ile) c.8285G>T (p.Arg2762Ile) c.896-29531G>T c.3030+86G>T (n.3030+86G>T) c.8159G>T (p.Arg2720Ile) n.2088G>T c.8288G>T (p.Arg2763Ile) | |
2 | g.73490245A>C | CA347268117 | ALMS1 | c.7905A>C (p.Arg2635Ser) c.1297A>C c.5357A>C c.2352A>C (p.Arg784Ser) c.8286A>C (p.Arg2762Ser) c.896-29530A>C c.3030+87A>C (n.3030+87A>C) c.8160A>C (p.Arg2720Ser) n.2089A>C c.8289A>C (p.Arg2763Ser) | |
2 | g.73490245A>G | CA427001402 | ALMS1 | c.7905A>G (p.Arg2635=) c.1297A>G c.5357A>G c.2352A>G (p.Arg784=) c.8286A>G (p.Arg2762=) c.896-29530A>G c.3030+87A>G (n.3030+87A>G) c.8160A>G (p.Arg2720=) n.2089A>G c.8289A>G (p.Arg2763=) | ClinVar dbSNP |
2 | g.73490245A>T | CA347268119 | ALMS1 | c.7905A>T (p.Arg2635Ser) c.1297A>T c.5357A>T c.2352A>T (p.Arg784Ser) c.8286A>T (p.Arg2762Ser) c.896-29530A>T c.3030+87A>T (n.3030+87A>T) c.8160A>T (p.Arg2720Ser) n.2089A>T c.8289A>T (p.Arg2763Ser) | |
2 | g.73490246G>A | CA347268121 | ALMS1 | c.7906G>A (p.Asp2636Asn) c.1298G>A c.5358G>A c.2353G>A (p.Asp785Asn) c.8287G>A (p.Asp2763Asn) c.896-29529G>A c.3030+88G>A (n.3030+88G>A) c.8161G>A (p.Asp2721Asn) n.2090G>A c.8290G>A (p.Asp2764Asn) | |
2 | g.73490246G>C | CA347268123 | ALMS1 | c.7906G>C (p.Asp2636His) c.1298G>C c.5358G>C c.2353G>C (p.Asp785His) c.8287G>C (p.Asp2763His) c.896-29529G>C c.3030+88G>C (n.3030+88G>C) c.8161G>C (p.Asp2721His) n.2090G>C c.8290G>C (p.Asp2764His) | |
2 | g.73490246G>T | CA347268125 | ALMS1 | c.7906G>T (p.Asp2636Tyr) c.1298G>T c.5358G>T c.2353G>T (p.Asp785Tyr) c.8287G>T (p.Asp2763Tyr) c.896-29529G>T c.3030+88G>T (n.3030+88G>T) c.8161G>T (p.Asp2721Tyr) n.2090G>T c.8290G>T (p.Asp2764Tyr) | |
2 | g.73490247A= | CA1260981771 | ALMS1 | c.7907A= (p.Asp2636=) c.1299A= c.5359A= c.2354A= (p.Asp785=) c.8288A= (p.Asp2763=) c.896-29528A= c.3030+89A= (n.3030+89A=) c.8162A= (p.Asp2721=) n.2091A= c.8291A= (p.Asp2764=) | |
2 | g.73490247A>C | CA347268127 | ALMS1 | c.7907A>C (p.Asp2636Ala) c.1299A>C c.5359A>C c.2354A>C (p.Asp785Ala) c.8288A>C (p.Asp2763Ala) c.896-29528A>C c.3030+89A>C (n.3030+89A>C) c.8162A>C (p.Asp2721Ala) n.2091A>C c.8291A>C (p.Asp2764Ala) | |
2 | g.73490247A>G | CA347268129 | ALMS1 | c.7907A>G (p.Asp2636Gly) c.1299A>G c.5359A>G c.2354A>G (p.Asp785Gly) c.8288A>G (p.Asp2763Gly) c.896-29528A>G c.3030+89A>G (n.3030+89A>G) c.8162A>G (p.Asp2721Gly) n.2091A>G c.8291A>G (p.Asp2764Gly) | dbSNP |
2 | g.73490247A>T | CA347268130 | ALMS1 | c.7907A>T (p.Asp2636Val) c.1299A>T c.5359A>T c.2354A>T (p.Asp785Val) c.8288A>T (p.Asp2763Val) c.896-29528A>T c.3030+89A>T (n.3030+89A>T) c.8162A>T (p.Asp2721Val) n.2091A>T c.8291A>T (p.Asp2764Val) | gnomAD v4 |
2 | g.73490248T>A | CA347268134 | ALMS1 | c.7908T>A (p.Asp2636Glu) c.1300T>A c.5360T>A c.2355T>A (p.Asp785Glu) c.8289T>A (p.Asp2763Glu) c.896-29527T>A c.3030+90T>A (n.3030+90T>A) c.8163T>A (p.Asp2721Glu) n.2092T>A c.8292T>A (p.Asp2764Glu) | |
2 | g.73490248T>C | CA427001413 | ALMS1 | c.7908T>C (p.Asp2636=) c.1300T>C c.5360T>C c.2355T>C (p.Asp785=) c.8289T>C (p.Asp2763=) c.896-29527T>C c.3030+90T>C (n.3030+90T>C) c.8163T>C (p.Asp2721=) n.2092T>C c.8292T>C (p.Asp2764=) | |
2 | g.73490248T>G | CA347268132 | ALMS1 | c.7908T>G (p.Asp2636Glu) c.1300T>G c.5360T>G c.2355T>G (p.Asp785Glu) c.8289T>G (p.Asp2763Glu) c.896-29527T>G c.3030+90T>G (n.3030+90T>G) c.8163T>G (p.Asp2721Glu) n.2092T>G c.8292T>G (p.Asp2764Glu) | |
2 | g.73490249C>A | CA347268135 | ALMS1 | c.7909C>A (p.Leu2637Ile) c.1301C>A c.5361C>A c.2356C>A (p.Leu786Ile) c.8290C>A (p.Leu2764Ile) c.896-29526C>A c.3030+91C>A (n.3030+91C>A) c.8164C>A (p.Leu2722Ile) n.2093C>A c.8293C>A (p.Leu2765Ile) | gnomAD v4 |
2 | g.73490249C= | CA1260981774 | ALMS1 | c.7909C= (p.Leu2637=) c.1301C= c.5361C= c.2356C= (p.Leu786=) c.8290C= (p.Leu2764=) c.896-29526C= c.3030+91C= (n.3030+91C=) c.8164C= (p.Leu2722=) n.2093C= c.8293C= (p.Leu2765=) | |
2 | g.73490249C>G | CA347268137 | ALMS1 | c.7909C>G (p.Leu2637Val) c.1301C>G c.5361C>G c.2356C>G (p.Leu786Val) c.8290C>G (p.Leu2764Val) c.896-29526C>G c.3030+91C>G (n.3030+91C>G) c.8164C>G (p.Leu2722Val) n.2093C>G c.8293C>G (p.Leu2765Val) | |
2 | g.73490249C>T | CA347268138 | ALMS1 | c.7909C>T (p.Leu2637Phe) c.1301C>T c.5361C>T c.2356C>T (p.Leu786Phe) c.8290C>T (p.Leu2764Phe) c.896-29526C>T c.3030+91C>T (n.3030+91C>T) c.8164C>T (p.Leu2722Phe) n.2093C>T c.8293C>T (p.Leu2765Phe) | ClinVar dbSNP |
2 | g.73490249_73490256delinsCTTAAACA | CA1260981773 | ALMS1 | c.7909_7916delinsCTTAAACA (p.Leu2637=) c.1301_1308delinsCTTAAACA c.5361_5368delinsCTTAAACA c.2356_2363delinsCTTAAACA (p.Leu786=) c.8290_8297delinsCTTAAACA (p.Leu2764=) c.896-29526_896-29519delinsCTTAAACA c.3030+91_3030+98delinsCTTAAACA (n.3030+91_3030+98delinsCTTAAACA) c.8164_8171delinsCTTAAACA (p.Leu2722=) n.2093_2100delinsCTTAAACA c.8293_8300delinsCTTAAACA (p.Leu2765=) | |
2 | g.73490250T>A | CA347268140 | ALMS1 | c.7910T>A (p.Leu2637His) c.1302T>A c.5362T>A c.2357T>A (p.Leu786His) c.8291T>A (p.Leu2764His) c.896-29525T>A c.3030+92T>A (n.3030+92T>A) c.8165T>A (p.Leu2722His) n.2094T>A c.8294T>A (p.Leu2765His) | |
2 | g.73490250T>C | CA347268142 | ALMS1 | c.7910T>C (p.Leu2637Pro) c.1302T>C c.5362T>C c.2357T>C (p.Leu786Pro) c.8291T>C (p.Leu2764Pro) c.896-29525T>C c.3030+92T>C (n.3030+92T>C) c.8165T>C (p.Leu2722Pro) n.2094T>C c.8294T>C (p.Leu2765Pro) | gnomAD v4 |
2 | g.73490250T>G | CA347268143 | ALMS1 | c.7910T>G (p.Leu2637Arg) c.1302T>G c.5362T>G c.2357T>G (p.Leu786Arg) c.8291T>G (p.Leu2764Arg) c.896-29525T>G c.3030+92T>G (n.3030+92T>G) c.8165T>G (p.Leu2722Arg) n.2094T>G c.8294T>G (p.Leu2765Arg) | |
2 | g.73490250_73490251dup | CA1260981782 | ALMS1 | c.7910_7911dup (p.Lys2638LeufsTer22) c.1302_1303dup c.5362_5363dup c.2357_2358dup (p.Lys787LeufsTer22) c.8291_8292dup (p.Lys2765LeufsTer22) c.896-29525_896-29524dup c.3030+92_3030+93dup (n.3030+92_3030+93dup) c.8165_8166dup (p.Lys2723LeufsTer22) n.2094_2095dup c.8294_8295dup (p.Lys2766LeufsTer22) | dbSNP |
2 | g.73490250_73490256del | CA534125525 | ALMS1 | c.7910_7916del (p.Leu2637ArgfsTer20) c.1302_1308del c.5362_5368del c.2357_2363del (p.Leu786ArgfsTer20) c.8291_8297del (p.Leu2764ArgfsTer20) c.896-29525_896-29519del c.3030+92_3030+98del (n.3030+92_3030+98del) c.8165_8171del (p.Leu2722ArgfsTer20) n.2094_2100del c.8294_8300del (p.Leu2765ArgfsTer20) | dbSNP gnomAD v2 |
2 | g.73490251T>A | CA427001422 | ALMS1 | c.7911T>A (p.Leu2637=) c.1303T>A c.5363T>A c.2358T>A (p.Leu786=) c.8292T>A (p.Leu2764=) c.896-29524T>A c.3030+93T>A (n.3030+93T>A) c.8166T>A (p.Leu2722=) n.2095T>A c.8295T>A (p.Leu2765=) | |
2 | g.73490251T>C | CA427001424 | ALMS1 | c.7911T>C (p.Leu2637=) c.1303T>C c.5363T>C c.2358T>C (p.Leu786=) c.8292T>C (p.Leu2764=) c.896-29524T>C c.3030+93T>C (n.3030+93T>C) c.8166T>C (p.Leu2722=) n.2095T>C c.8295T>C (p.Leu2765=) | |
2 | g.73490251T>G | CA427001425 | ALMS1 | c.7911T>G (p.Leu2637=) c.1303T>G c.5363T>G c.2358T>G (p.Leu786=) c.8292T>G (p.Leu2764=) c.896-29524T>G c.3030+93T>G (n.3030+93T>G) c.8166T>G (p.Leu2722=) n.2095T>G c.8295T>G (p.Leu2765=) | |
2 | g.73490252A= | CA1260981784 | ALMS1 | c.7912A= (p.Lys2638=) c.1304A= c.5364A= c.2359A= (p.Lys787=) c.8293A= (p.Lys2765=) c.896-29523A= c.3030+94A= (n.3030+94A=) c.8167A= (p.Lys2723=) n.2096A= c.8296A= (p.Lys2766=) | |
2 | g.73490252A>C | CA347268145 | ALMS1 | c.7912A>C (p.Lys2638Gln) c.1304A>C c.5364A>C c.2359A>C (p.Lys787Gln) c.8293A>C (p.Lys2765Gln) c.896-29523A>C c.3030+94A>C (n.3030+94A>C) c.8167A>C (p.Lys2723Gln) n.2096A>C c.8296A>C (p.Lys2766Gln) | dbSNP |
2 | g.73490252A>G | CA347268148 | ALMS1 | c.7912A>G (p.Lys2638Glu) c.1304A>G c.5364A>G c.2359A>G (p.Lys787Glu) c.8293A>G (p.Lys2765Glu) c.896-29523A>G c.3030+94A>G (n.3030+94A>G) c.8167A>G (p.Lys2723Glu) n.2096A>G c.8296A>G (p.Lys2766Glu) | |
2 | g.73490252A>T | CA347268147 | ALMS1 | c.7912A>T (p.Lys2638Ter) c.1304A>T c.5364A>T c.2359A>T (p.Lys787Ter) c.8293A>T (p.Lys2765Ter) c.896-29523A>T c.3030+94A>T (n.3030+94A>T) c.8167A>T (p.Lys2723Ter) n.2096A>T c.8296A>T (p.Lys2766Ter) | |
2 | g.73490254dup | CA2739271087 | ALMS1 | c.7914dup (p.Gln2639ThrfsTer10) c.1306dup c.5366dup c.2361dup (p.Gln788ThrfsTer10) c.8295dup (p.Gln2766ThrfsTer10) c.896-29521dup c.3030+96dup (n.3030+96dup) c.8169dup (p.Gln2724ThrfsTer10) n.2098dup c.8298dup (p.Gln2767ThrfsTer10) | ClinVar |
2 | g.73490253A>C | CA347268150 | ALMS1 | c.7913A>C (p.Lys2638Thr) c.1305A>C c.5365A>C c.2360A>C (p.Lys787Thr) c.8294A>C (p.Lys2765Thr) c.896-29522A>C c.3030+95A>C (n.3030+95A>C) c.8168A>C (p.Lys2723Thr) n.2097A>C c.8297A>C (p.Lys2766Thr) | |
2 | g.73490253A>G | CA347268151 | ALMS1 | c.7913A>G (p.Lys2638Arg) c.1305A>G c.5365A>G c.2360A>G (p.Lys787Arg) c.8294A>G (p.Lys2765Arg) c.896-29522A>G c.3030+95A>G (n.3030+95A>G) c.8168A>G (p.Lys2723Arg) n.2097A>G c.8297A>G (p.Lys2766Arg) | |
2 | g.73490253A>T | CA347268153 | ALMS1 | c.7913A>T (p.Lys2638Ile) c.1305A>T c.5365A>T c.2360A>T (p.Lys787Ile) c.8294A>T (p.Lys2765Ile) c.896-29522A>T c.3030+95A>T (n.3030+95A>T) c.8168A>T (p.Lys2723Ile) n.2097A>T c.8297A>T (p.Lys2766Ile) | |
2 | g.73490254A>C | CA347268155 | ALMS1 | c.7914A>C (p.Lys2638Asn) c.1306A>C c.5366A>C c.2361A>C (p.Lys787Asn) c.8295A>C (p.Lys2765Asn) c.896-29521A>C c.3030+96A>C (n.3030+96A>C) c.8169A>C (p.Lys2723Asn) n.2098A>C c.8298A>C (p.Lys2766Asn) | |
2 | g.73490254A>G | CA427001430 | ALMS1 | c.7914A>G (p.Lys2638=) c.1306A>G c.5366A>G c.2361A>G (p.Lys787=) c.8295A>G (p.Lys2765=) c.896-29521A>G c.3030+96A>G (n.3030+96A>G) c.8169A>G (p.Lys2723=) n.2098A>G c.8298A>G (p.Lys2766=) | gnomAD v4 |
2 | g.73490254A>T | CA347268156 | ALMS1 | c.7914A>T (p.Lys2638Asn) c.1306A>T c.5366A>T c.2361A>T (p.Lys787Asn) c.8295A>T (p.Lys2765Asn) c.896-29521A>T c.3030+96A>T (n.3030+96A>T) c.8169A>T (p.Lys2723Asn) n.2098A>T c.8298A>T (p.Lys2766Asn) | |
2 | g.73490255C>A | CA347268158 | ALMS1 | c.7915C>A (p.Gln2639Lys) c.1307C>A c.5367C>A c.2362C>A (p.Gln788Lys) c.8296C>A (p.Gln2766Lys) c.896-29520C>A c.3030+97C>A (n.3030+97C>A) c.8170C>A (p.Gln2724Lys) n.2099C>A c.8299C>A (p.Gln2767Lys) | |
2 | g.73490255C>G | CA347268160 | ALMS1 | c.7915C>G (p.Gln2639Glu) c.1307C>G c.5367C>G c.2362C>G (p.Gln788Glu) c.8296C>G (p.Gln2766Glu) c.896-29520C>G c.3030+97C>G (n.3030+97C>G) c.8170C>G (p.Gln2724Glu) n.2099C>G c.8299C>G (p.Gln2767Glu) | ClinVar |
2 | g.73490255C>T | CA347268161 | ALMS1 | c.7915C>T (p.Gln2639Ter) c.1307C>T c.5367C>T c.2362C>T (p.Gln788Ter) c.8296C>T (p.Gln2766Ter) c.896-29520C>T c.3030+97C>T (n.3030+97C>T) c.8170C>T (p.Gln2724Ter) n.2099C>T c.8299C>T (p.Gln2767Ter) | gnomAD v4 |
2 | g.73490256A>C | CA347268163 | ALMS1 | c.7916A>C (p.Gln2639Pro) c.1308A>C c.5368A>C c.2363A>C (p.Gln788Pro) c.8297A>C (p.Gln2766Pro) c.896-29519A>C c.3030+98A>C (n.3030+98A>C) c.8171A>C (p.Gln2724Pro) n.2100A>C c.8300A>C (p.Gln2767Pro) | |
2 | g.73490256A>G | CA347268165 | ALMS1 | c.7916A>G (p.Gln2639Arg) c.1308A>G c.5368A>G c.2363A>G (p.Gln788Arg) c.8297A>G (p.Gln2766Arg) c.896-29519A>G c.3030+98A>G (n.3030+98A>G) c.8171A>G (p.Gln2724Arg) n.2100A>G c.8300A>G (p.Gln2767Arg) | |
2 | g.73490256A>T | CA347268167 | ALMS1 | c.7916A>T (p.Gln2639Leu) c.1308A>T c.5368A>T c.2363A>T (p.Gln788Leu) c.8297A>T (p.Gln2766Leu) c.896-29519A>T c.3030+98A>T (n.3030+98A>T) c.8171A>T (p.Gln2724Leu) n.2100A>T c.8300A>T (p.Gln2767Leu) | |
2 | g.73490257G>A | CA427001443 | ALMS1 | c.7917G>A (p.Gln2639=) c.1309G>A c.5369G>A c.2364G>A (p.Gln788=) c.8298G>A (p.Gln2766=) c.896-29518G>A c.3030+99G>A (n.3030+99G>A) c.8172G>A (p.Gln2724=) n.2101G>A c.8301G>A (p.Gln2767=) | ClinVar |
2 | g.73490257G>C | CA347268169 | ALMS1 | c.7917G>C (p.Gln2639His) c.1309G>C c.5369G>C c.2364G>C (p.Gln788His) c.8298G>C (p.Gln2766His) c.896-29518G>C c.3030+99G>C (n.3030+99G>C) c.8172G>C (p.Gln2724His) n.2101G>C c.8301G>C (p.Gln2767His) | |
2 | g.73490257G>T | CA347268170 | ALMS1 | c.7917G>T (p.Gln2639His) c.1309G>T c.5369G>T c.2364G>T (p.Gln788His) c.8298G>T (p.Gln2766His) c.896-29518G>T c.3030+99G>T (n.3030+99G>T) c.8172G>T (p.Gln2724His) n.2101G>T c.8301G>T (p.Gln2767His) | |
2 | g.73490258A= | CA1260981786 | ALMS1 | c.7918A= (p.Lys2640=) c.1310A= c.5370A= c.2365A= (p.Lys789=) c.8299A= (p.Lys2767=) c.896-29517A= c.3030+100A= (n.3030+100A=) c.8173A= (p.Lys2725=) n.2102A= c.8302A= (p.Lys2768=) | |
2 | g.73490258A>C | CA347268172 | ALMS1 | c.7918A>C (p.Lys2640Gln) c.1310A>C c.5370A>C c.2365A>C (p.Lys789Gln) c.8299A>C (p.Lys2767Gln) c.896-29517A>C c.3030+100A>C (n.3030+100A>C) c.8173A>C (p.Lys2725Gln) n.2102A>C c.8302A>C (p.Lys2768Gln) | |
2 | g.73490258A>G | CA1714441 | ALMS1 | c.7918A>G (p.Lys2640Glu) c.1310A>G c.5370A>G c.2365A>G (p.Lys789Glu) c.8299A>G (p.Lys2767Glu) c.896-29517A>G c.3030+100A>G (n.3030+100A>G) c.8173A>G (p.Lys2725Glu) n.2102A>G c.8302A>G (p.Lys2768Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490258A>T | CA347268174 | ALMS1 | c.7918A>T (p.Lys2640Ter) c.1310A>T c.5370A>T c.2365A>T (p.Lys789Ter) c.8299A>T (p.Lys2767Ter) c.896-29517A>T c.3030+100A>T (n.3030+100A>T) c.8173A>T (p.Lys2725Ter) n.2102A>T c.8302A>T (p.Lys2768Ter) | |
2 | g.73490259A= | CA1260981789 | ALMS1 | c.7919A= (p.Lys2640=) c.1311A= c.5371A= c.2366A= (p.Lys789=) c.8300A= (p.Lys2767=) c.896-29516A= c.3030+101A= (n.3030+101A=) c.8174A= (p.Lys2725=) n.2103A= c.8303A= (p.Lys2768=) | |
2 | g.73490259A>C | CA347268176 | ALMS1 | c.7919A>C (p.Lys2640Thr) c.1311A>C c.5371A>C c.2366A>C (p.Lys789Thr) c.8300A>C (p.Lys2767Thr) c.896-29516A>C c.3030+101A>C (n.3030+101A>C) c.8174A>C (p.Lys2725Thr) n.2103A>C c.8303A>C (p.Lys2768Thr) | |
2 | g.73490259A>G | CA1714442 | ALMS1 | c.7919A>G (p.Lys2640Arg) c.1311A>G c.5371A>G c.2366A>G (p.Lys789Arg) c.8300A>G (p.Lys2767Arg) c.896-29516A>G c.3030+101A>G (n.3030+101A>G) c.8174A>G (p.Lys2725Arg) n.2103A>G c.8303A>G (p.Lys2768Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490259A>T | CA347268178 | ALMS1 | c.7919A>T (p.Lys2640Ile) c.1311A>T c.5371A>T c.2366A>T (p.Lys789Ile) c.8300A>T (p.Lys2767Ile) c.896-29516A>T c.3030+101A>T (n.3030+101A>T) c.8174A>T (p.Lys2725Ile) n.2103A>T c.8303A>T (p.Lys2768Ile) | |
2 | g.73490260A>C | CA347268180 | ALMS1 | c.7920A>C (p.Lys2640Asn) c.1312A>C c.5372A>C c.2367A>C (p.Lys789Asn) c.8301A>C (p.Lys2767Asn) c.896-29515A>C c.3030+102A>C (n.3030+102A>C) c.8175A>C (p.Lys2725Asn) n.2104A>C c.8304A>C (p.Lys2768Asn) | |
2 | g.73490260A>G | CA427001449 | ALMS1 | c.7920A>G (p.Lys2640=) c.1312A>G c.5372A>G c.2367A>G (p.Lys789=) c.8301A>G (p.Lys2767=) c.896-29515A>G c.3030+102A>G (n.3030+102A>G) c.8175A>G (p.Lys2725=) n.2104A>G c.8304A>G (p.Lys2768=) | |
2 | g.73490260A>T | CA347268181 | ALMS1 | c.7920A>T (p.Lys2640Asn) c.1312A>T c.5372A>T c.2367A>T (p.Lys789Asn) c.8301A>T (p.Lys2767Asn) c.896-29515A>T c.3030+102A>T (n.3030+102A>T) c.8175A>T (p.Lys2725Asn) n.2104A>T c.8304A>T (p.Lys2768Asn) | |
2 | g.73490261A>C | CA347268183 | ALMS1 | c.7921A>C (p.Thr2641Pro) c.1313A>C c.5373A>C c.2368A>C (p.Thr790Pro) c.8302A>C (p.Thr2768Pro) c.896-29514A>C c.3030+103A>C (n.3030+103A>C) c.8176A>C (p.Thr2726Pro) n.2105A>C c.8305A>C (p.Thr2769Pro) | |
2 | g.73490261A>G | CA347268185 | ALMS1 | c.7921A>G (p.Thr2641Ala) c.1313A>G c.5373A>G c.2368A>G (p.Thr790Ala) c.8302A>G (p.Thr2768Ala) c.896-29514A>G c.3030+103A>G (n.3030+103A>G) c.8176A>G (p.Thr2726Ala) n.2105A>G c.8305A>G (p.Thr2769Ala) | |
2 | g.73490261A>T | CA347268187 | ALMS1 | c.7921A>T (p.Thr2641Ser) c.1313A>T c.5373A>T c.2368A>T (p.Thr790Ser) c.8302A>T (p.Thr2768Ser) c.896-29514A>T c.3030+103A>T (n.3030+103A>T) c.8176A>T (p.Thr2726Ser) n.2105A>T c.8305A>T (p.Thr2769Ser) | |
2 | g.73490262C>A | CA347268188 | ALMS1 | c.7922C>A (p.Thr2641Asn) c.1314C>A c.5374C>A c.2369C>A (p.Thr790Asn) c.8303C>A (p.Thr2768Asn) c.896-29513C>A c.3030+104C>A (n.3030+104C>A) c.8177C>A (p.Thr2726Asn) n.2106C>A c.8306C>A (p.Thr2769Asn) | |
2 | g.73490262C>G | CA347268189 | ALMS1 | c.7922C>G (p.Thr2641Ser) c.1314C>G c.5374C>G c.2369C>G (p.Thr790Ser) c.8303C>G (p.Thr2768Ser) c.896-29513C>G c.3030+104C>G (n.3030+104C>G) c.8177C>G (p.Thr2726Ser) n.2106C>G c.8306C>G (p.Thr2769Ser) | |
2 | g.73490262C>T | CA347268191 | ALMS1 | c.7922C>T (p.Thr2641Ile) c.1314C>T c.5374C>T c.2369C>T (p.Thr790Ile) c.8303C>T (p.Thr2768Ile) c.896-29513C>T c.3030+104C>T (n.3030+104C>T) c.8177C>T (p.Thr2726Ile) n.2106C>T c.8306C>T (p.Thr2769Ile) | gnomAD v4 |
2 | g.73490263C>A | CA427001457 | ALMS1 | c.7923C>A (p.Thr2641=) c.1315C>A c.5375C>A c.2370C>A (p.Thr790=) c.8304C>A (p.Thr2768=) c.896-29512C>A c.3030+105C>A (n.3030+105C>A) c.8178C>A (p.Thr2726=) n.2107C>A c.8307C>A (p.Thr2769=) | ClinVar dbSNP gnomAD v4 |
2 | g.73490263C>G | CA427001461 | ALMS1 | c.7923C>G (p.Thr2641=) c.1315C>G c.5375C>G c.2370C>G (p.Thr790=) c.8304C>G (p.Thr2768=) c.896-29512C>G c.3030+105C>G (n.3030+105C>G) c.8178C>G (p.Thr2726=) n.2107C>G c.8307C>G (p.Thr2769=) | ClinVar gnomAD v4 |
2 | g.73490263C>T | CA427001459 | ALMS1 | c.7923C>T (p.Thr2641=) c.1315C>T c.5375C>T c.2370C>T (p.Thr790=) c.8304C>T (p.Thr2768=) c.896-29512C>T c.3030+105C>T (n.3030+105C>T) c.8178C>T (p.Thr2726=) n.2107C>T c.8307C>T (p.Thr2769=) | |
2 | g.73490265_73490266del | CA2586969433 | ALMS1 | c.7925_7926del (p.Ser2642PhefsTer6) c.1317_1318del c.5377_5378del c.2372_2373del (p.Ser791PhefsTer6) c.8306_8307del (p.Ser2769PhefsTer6) c.896-29510_896-29509del c.3030+107_3030+108del (n.3030+107_3030+108del) c.8180_8181del (p.Ser2727PhefsTer6) n.2109_2110del c.8309_8310del (p.Ser2770PhefsTer6) | |
2 | g.73490264T>A | CA347268194 | ALMS1 | c.7924T>A (p.Ser2642Thr) c.1316T>A c.5376T>A c.2371T>A (p.Ser791Thr) c.8305T>A (p.Ser2769Thr) c.896-29511T>A c.3030+106T>A (n.3030+106T>A) c.8179T>A (p.Ser2727Thr) n.2108T>A c.8308T>A (p.Ser2770Thr) | |
2 | g.73490264T>C | CA347268193 | ALMS1 | c.7924T>C (p.Ser2642Pro) c.1316T>C c.5376T>C c.2371T>C (p.Ser791Pro) c.8305T>C (p.Ser2769Pro) c.896-29511T>C c.3030+106T>C (n.3030+106T>C) c.8179T>C (p.Ser2727Pro) n.2108T>C c.8308T>C (p.Ser2770Pro) | |
2 | g.73490264T>G | CA347268192 | ALMS1 | c.7924T>G (p.Ser2642Ala) c.1316T>G c.5376T>G c.2371T>G (p.Ser791Ala) c.8305T>G (p.Ser2769Ala) c.896-29511T>G c.3030+106T>G (n.3030+106T>G) c.8179T>G (p.Ser2727Ala) n.2108T>G c.8308T>G (p.Ser2770Ala) | |
2 | g.73490265C>A | CA347268196 | ALMS1 | c.7925C>A (p.Ser2642Tyr) c.1317C>A c.5377C>A c.2372C>A (p.Ser791Tyr) c.8306C>A (p.Ser2769Tyr) c.896-29510C>A c.3030+107C>A (n.3030+107C>A) c.8180C>A (p.Ser2727Tyr) n.2109C>A c.8309C>A (p.Ser2770Tyr) | |
2 | g.73490265C= | CA1260981792 | ALMS1 | c.7925C= (p.Ser2642=) c.1317C= c.5377C= c.2372C= (p.Ser791=) c.8306C= (p.Ser2769=) c.896-29510C= c.3030+107C= (n.3030+107C=) c.8180C= (p.Ser2727=) n.2109C= c.8309C= (p.Ser2770=) | |
2 | g.73490265C>G | CA347268197 | ALMS1 | c.7925C>G (p.Ser2642Cys) c.1317C>G c.5377C>G c.2372C>G (p.Ser791Cys) c.8306C>G (p.Ser2769Cys) c.896-29510C>G c.3030+107C>G (n.3030+107C>G) c.8180C>G (p.Ser2727Cys) n.2109C>G c.8309C>G (p.Ser2770Cys) | |
2 | g.73490265C>T | CA16611111 | ALMS1 | c.7925C>T (p.Ser2642Phe) c.1317C>T c.5377C>T c.2372C>T (p.Ser791Phe) c.8306C>T (p.Ser2769Phe) c.896-29510C>T c.3030+107C>T (n.3030+107C>T) c.8180C>T (p.Ser2727Phe) n.2109C>T c.8309C>T (p.Ser2770Phe) | ClinVar dbSNP gnomAD v4 |
2 | g.73490266T>A | CA427001468 | ALMS1 | c.7926T>A (p.Ser2642=) c.1318T>A c.5378T>A c.2373T>A (p.Ser791=) c.8307T>A (p.Ser2769=) c.896-29509T>A c.3030+108T>A (n.3030+108T>A) c.8181T>A (p.Ser2727=) n.2110T>A c.8310T>A (p.Ser2770=) | |
2 | g.73490266T>C | CA427001467 | ALMS1 | c.7926T>C (p.Ser2642=) c.1318T>C c.5378T>C c.2373T>C (p.Ser791=) c.8307T>C (p.Ser2769=) c.896-29509T>C c.3030+108T>C (n.3030+108T>C) c.8181T>C (p.Ser2727=) n.2110T>C c.8310T>C (p.Ser2770=) | |
2 | g.73490266T>G | CA427001465 | ALMS1 | c.7926T>G (p.Ser2642=) c.1318T>G c.5378T>G c.2373T>G (p.Ser791=) c.8307T>G (p.Ser2769=) c.896-29509T>G c.3030+108T>G (n.3030+108T>G) c.8181T>G (p.Ser2727=) n.2110T>G c.8310T>G (p.Ser2770=) | |
2 | g.73490267T>A | CA347268198 | ALMS1 | c.7927T>A (p.Ser2643Thr) c.1319T>A c.5379T>A c.2374T>A (p.Ser792Thr) c.8308T>A (p.Ser2770Thr) c.896-29508T>A c.3030+109T>A (n.3030+109T>A) c.8182T>A (p.Ser2728Thr) n.2111T>A c.8311T>A (p.Ser2771Thr) | |
2 | g.73490267T>C | CA347268200 | ALMS1 | c.7927T>C (p.Ser2643Pro) c.1319T>C c.5379T>C c.2374T>C (p.Ser792Pro) c.8308T>C (p.Ser2770Pro) c.896-29508T>C c.3030+109T>C (n.3030+109T>C) c.8182T>C (p.Ser2728Pro) n.2111T>C c.8311T>C (p.Ser2771Pro) | |
2 | g.73490267T>G | CA347268202 | ALMS1 | c.7927T>G (p.Ser2643Ala) c.1319T>G c.5379T>G c.2374T>G (p.Ser792Ala) c.8308T>G (p.Ser2770Ala) c.896-29508T>G c.3030+109T>G (n.3030+109T>G) c.8182T>G (p.Ser2728Ala) n.2111T>G c.8311T>G (p.Ser2771Ala) | |
2 | g.73490268C>A | CA1714443 | ALMS1 | c.7928C>A (p.Ser2643Tyr) c.1320C>A c.5380C>A c.2375C>A (p.Ser792Tyr) c.8309C>A (p.Ser2770Tyr) c.896-29507C>A c.3030+110C>A (n.3030+110C>A) c.8183C>A (p.Ser2728Tyr) n.2112C>A c.8312C>A (p.Ser2771Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490268C= | CA1260981798 | ALMS1 | c.7928C= (p.Ser2643=) c.1320C= c.5380C= c.2375C= (p.Ser792=) c.8309C= (p.Ser2770=) c.896-29507C= c.3030+110C= (n.3030+110C=) c.8183C= (p.Ser2728=) n.2112C= c.8312C= (p.Ser2771=) | |
2 | g.73490268C>G | CA50378408 | ALMS1 | c.7928C>G (p.Ser2643Cys) c.1320C>G c.5380C>G c.2375C>G (p.Ser792Cys) c.8309C>G (p.Ser2770Cys) c.896-29507C>G c.3030+110C>G (n.3030+110C>G) c.8183C>G (p.Ser2728Cys) n.2112C>G c.8312C>G (p.Ser2771Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490268C>T | CA347268206 | ALMS1 | c.7928C>T (p.Ser2643Phe) c.1320C>T c.5380C>T c.2375C>T (p.Ser792Phe) c.8309C>T (p.Ser2770Phe) c.896-29507C>T c.3030+110C>T (n.3030+110C>T) c.8183C>T (p.Ser2728Phe) n.2112C>T c.8312C>T (p.Ser2771Phe) | dbSNP |
2 | g.73490271del | CA2586969434 | ALMS1 | c.7931del (p.Pro2644LeufsTer15) c.1323del c.5383del c.2378del (p.Pro793LeufsTer15) c.8312del (p.Pro2771LeufsTer15) c.896-29504del c.3030+113del (n.3030+113del) c.8186del (p.Pro2729LeufsTer15) n.2115del c.8315del (p.Pro2772LeufsTer15) | |
2 | g.73490269C>A | CA427001480 | ALMS1 | c.7929C>A (p.Ser2643=) c.1321C>A c.5381C>A c.2376C>A (p.Ser792=) c.8310C>A (p.Ser2770=) c.896-29506C>A c.3030+111C>A (n.3030+111C>A) c.8184C>A (p.Ser2728=) n.2113C>A c.8313C>A (p.Ser2771=) | |
2 | g.73490269C>G | CA427001477 | ALMS1 | c.7929C>G (p.Ser2643=) c.1321C>G c.5381C>G c.2376C>G (p.Ser792=) c.8310C>G (p.Ser2770=) c.896-29506C>G c.3030+111C>G (n.3030+111C>G) c.8184C>G (p.Ser2728=) n.2113C>G c.8313C>G (p.Ser2771=) | |
2 | g.73490269C>T | CA427001479 | ALMS1 | c.7929C>T (p.Ser2643=) c.1321C>T c.5381C>T c.2376C>T (p.Ser792=) c.8310C>T (p.Ser2770=) c.896-29506C>T c.3030+111C>T (n.3030+111C>T) c.8184C>T (p.Ser2728=) n.2113C>T c.8313C>T (p.Ser2771=) | ClinVar dbSNP |
2 | g.73490270C>A | CA347268207 | ALMS1 | c.7930C>A (p.Pro2644Thr) c.1322C>A c.5382C>A c.2377C>A (p.Pro793Thr) c.8311C>A (p.Pro2771Thr) c.896-29505C>A c.3030+112C>A (n.3030+112C>A) c.8185C>A (p.Pro2729Thr) n.2114C>A c.8314C>A (p.Pro2772Thr) | ClinVar dbSNP gnomAD v4 |
2 | g.73490270C= | CA1260981802 | ALMS1 | c.7930C= (p.Pro2644=) c.1322C= c.5382C= c.2377C= (p.Pro793=) c.8311C= (p.Pro2771=) c.896-29505C= c.3030+112C= (n.3030+112C=) c.8185C= (p.Pro2729=) n.2114C= c.8314C= (p.Pro2772=) | |
2 | g.73490270C>G | CA347268209 | ALMS1 | c.7930C>G (p.Pro2644Ala) c.1322C>G c.5382C>G c.2377C>G (p.Pro793Ala) c.8311C>G (p.Pro2771Ala) c.896-29505C>G c.3030+112C>G (n.3030+112C>G) c.8185C>G (p.Pro2729Ala) n.2114C>G c.8314C>G (p.Pro2772Ala) | |
2 | g.73490270C>T | CA347268210 | ALMS1 | c.7930C>T (p.Pro2644Ser) c.1322C>T c.5382C>T c.2377C>T (p.Pro793Ser) c.8311C>T (p.Pro2771Ser) c.896-29505C>T c.3030+112C>T (n.3030+112C>T) c.8185C>T (p.Pro2729Ser) n.2114C>T c.8314C>T (p.Pro2772Ser) | dbSNP |
2 | g.73490271C>A | CA347268215 | ALMS1 | c.7931C>A (p.Pro2644His) c.1323C>A c.5383C>A c.2378C>A (p.Pro793His) c.8312C>A (p.Pro2771His) c.896-29504C>A c.3030+113C>A (n.3030+113C>A) c.8186C>A (p.Pro2729His) n.2115C>A c.8315C>A (p.Pro2772His) | |
2 | g.73490271C>G | CA347268213 | ALMS1 | c.7931C>G (p.Pro2644Arg) c.1323C>G c.5383C>G c.2378C>G (p.Pro793Arg) c.8312C>G (p.Pro2771Arg) c.896-29504C>G c.3030+113C>G (n.3030+113C>G) c.8186C>G (p.Pro2729Arg) n.2115C>G c.8315C>G (p.Pro2772Arg) | |
2 | g.73490271C>T | CA347268211 | ALMS1 | c.7931C>T (p.Pro2644Leu) c.1323C>T c.5383C>T c.2378C>T (p.Pro793Leu) c.8312C>T (p.Pro2771Leu) c.896-29504C>T c.3030+113C>T (n.3030+113C>T) c.8186C>T (p.Pro2729Leu) n.2115C>T c.8315C>T (p.Pro2772Leu) | |
2 | g.73490272T>A | CA427001488 | ALMS1 | c.7932T>A (p.Pro2644=) c.1324T>A c.5384T>A c.2379T>A (p.Pro793=) c.8313T>A (p.Pro2771=) c.896-29503T>A c.3030+114T>A (n.3030+114T>A) c.8187T>A (p.Pro2729=) n.2116T>A c.8316T>A (p.Pro2772=) | |
2 | g.73490272T>C | CA427001490 | ALMS1 | c.7932T>C (p.Pro2644=) c.1324T>C c.5384T>C c.2379T>C (p.Pro793=) c.8313T>C (p.Pro2771=) c.896-29503T>C c.3030+114T>C (n.3030+114T>C) c.8187T>C (p.Pro2729=) n.2116T>C c.8316T>C (p.Pro2772=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490272T>G | CA427001492 | ALMS1 | c.7932T>G (p.Pro2644=) c.1324T>G c.5384T>G c.2379T>G (p.Pro793=) c.8313T>G (p.Pro2771=) c.896-29503T>G c.3030+114T>G (n.3030+114T>G) c.8187T>G (p.Pro2729=) n.2116T>G c.8316T>G (p.Pro2772=) | |
2 | g.73490272T= | CA1260981808 | ALMS1 | c.7932T= (p.Pro2644=) c.1324T= c.5384T= c.2379T= (p.Pro793=) c.8313T= (p.Pro2771=) c.896-29503T= c.3030+114T= (n.3030+114T=) c.8187T= (p.Pro2729=) n.2116T= c.8316T= (p.Pro2772=) | |
2 | g.73490272_73490275delinsTTCA | CA1260981806 | ALMS1 | c.7932_7935delinsTTCA (p.Pro2644=) c.1324_1327delinsTTCA c.5384_5387delinsTTCA c.2379_2382delinsTTCA (p.Pro793=) c.8313_8316delinsTTCA (p.Pro2771=) c.896-29503_896-29500delinsTTCA c.3030+114_3030+117delinsTTCA (n.3030+114_3030+117delinsTTCA) c.8187_8190delinsTTCA (p.Pro2729=) n.2116_2119delinsTTCA c.8316_8319delinsTTCA (p.Pro2772=) | |
2 | g.73490273_73490276del | CA913090807 | ALMS1 | c.7933_7936del (p.Ser2645HisfsTer13) c.1325_1328del c.5385_5388del c.2380_2383del (p.Ser794HisfsTer13) c.8314_8317del (p.Ser2772HisfsTer13) c.896-29502_896-29499del c.3030+115_3030+118del (n.3030+115_3030+118del) c.8188_8191del (p.Ser2730HisfsTer13) n.2117_2120del c.8317_8320del (p.Ser2773HisfsTer13) | |
2 | g.73490273T>A | CA347268217 | ALMS1 | c.7933T>A (p.Ser2645Thr) c.1325T>A c.5385T>A c.2380T>A (p.Ser794Thr) c.8314T>A (p.Ser2772Thr) c.896-29502T>A c.3030+115T>A (n.3030+115T>A) c.8188T>A (p.Ser2730Thr) n.2117T>A c.8317T>A (p.Ser2773Thr) | |
2 | g.73490273T>C | CA347268218 | ALMS1 | c.7933T>C (p.Ser2645Pro) c.1325T>C c.5385T>C c.2380T>C (p.Ser794Pro) c.8314T>C (p.Ser2772Pro) c.896-29502T>C c.3030+115T>C (n.3030+115T>C) c.8188T>C (p.Ser2730Pro) n.2117T>C c.8317T>C (p.Ser2773Pro) | |
2 | g.73490273T>G | CA347268221 | ALMS1 | c.7933T>G (p.Ser2645Ala) c.1325T>G c.5385T>G c.2380T>G (p.Ser794Ala) c.8314T>G (p.Ser2772Ala) c.896-29502T>G c.3030+115T>G (n.3030+115T>G) c.8188T>G (p.Ser2730Ala) n.2117T>G c.8317T>G (p.Ser2773Ala) | |
2 | g.73490277_73490279del | CA1714444 | ALMS1 | c.7937_7939del (p.Ser2646del) c.1329_1331del c.5389_5391del c.2384_2386del (p.Ser795del) c.8318_8320del (p.Ser2773del) c.896-29498_896-29496del c.3030+119_3030+121del (n.3030+119_3030+121del) c.8192_8194del (p.Ser2731del) n.2121_2123del c.8321_8323del (p.Ser2774del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490274C>A | CA347268222 | ALMS1 | c.7934C>A (p.Ser2645Ter) c.1326C>A c.5386C>A c.2381C>A (p.Ser794Ter) c.8315C>A (p.Ser2772Ter) c.896-29501C>A c.3030+116C>A (n.3030+116C>A) c.8189C>A (p.Ser2730Ter) n.2118C>A c.8318C>A (p.Ser2773Ter) | |
2 | g.73490274C>G | CA347268223 | ALMS1 | c.7934C>G (p.Ser2645Ter) c.1326C>G c.5386C>G c.2381C>G (p.Ser794Ter) c.8315C>G (p.Ser2772Ter) c.896-29501C>G c.3030+116C>G (n.3030+116C>G) c.8189C>G (p.Ser2730Ter) n.2118C>G c.8318C>G (p.Ser2773Ter) | |
2 | g.73490274C>T | CA347268224 | ALMS1 | c.7934C>T (p.Ser2645Leu) c.1326C>T c.5386C>T c.2381C>T (p.Ser794Leu) c.8315C>T (p.Ser2772Leu) c.896-29501C>T c.3030+116C>T (n.3030+116C>T) c.8189C>T (p.Ser2730Leu) n.2118C>T c.8318C>T (p.Ser2773Leu) | gnomAD v4 |
2 | g.73490275A= | CA1260981809 | ALMS1 | c.7935A= (p.Ser2645=) c.1327A= c.5387A= c.2382A= (p.Ser794=) c.8316A= (p.Ser2772=) c.896-29500A= c.3030+117A= (n.3030+117A=) c.8190A= (p.Ser2730=) n.2119A= c.8319A= (p.Ser2773=) | |
2 | g.73490275A>C | CA50378422 | ALMS1 | c.7935A>C (p.Ser2645=) c.1327A>C c.5387A>C c.2382A>C (p.Ser794=) c.8316A>C (p.Ser2772=) c.896-29500A>C c.3030+117A>C (n.3030+117A>C) c.8190A>C (p.Ser2730=) n.2119A>C c.8319A>C (p.Ser2773=) | dbSNP gnomAD v4 |
2 | g.73490275A>G | CA427001502 | ALMS1 | c.7935A>G (p.Ser2645=) c.1327A>G c.5387A>G c.2382A>G (p.Ser794=) c.8316A>G (p.Ser2772=) c.896-29500A>G c.3030+117A>G (n.3030+117A>G) c.8190A>G (p.Ser2730=) n.2119A>G c.8319A>G (p.Ser2773=) | ClinVar |
2 | g.73490275A>T | CA1714445 | ALMS1 | c.7935A>T (p.Ser2645=) c.1327A>T c.5387A>T c.2382A>T (p.Ser794=) c.8316A>T (p.Ser2772=) c.896-29500A>T c.3030+117A>T (n.3030+117A>T) c.8190A>T (p.Ser2730=) n.2119A>T c.8319A>T (p.Ser2773=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490276T>A | CA347268226 | ALMS1 | c.7936T>A (p.Ser2646Thr) c.1328T>A c.5388T>A c.2383T>A (p.Ser795Thr) c.8317T>A (p.Ser2773Thr) c.896-29499T>A c.3030+118T>A (n.3030+118T>A) c.8191T>A (p.Ser2731Thr) n.2120T>A c.8320T>A (p.Ser2774Thr) | |
2 | g.73490276T>C | CA347268228 | ALMS1 | c.7936T>C (p.Ser2646Pro) c.1328T>C c.5388T>C c.2383T>C (p.Ser795Pro) c.8317T>C (p.Ser2773Pro) c.896-29499T>C c.3030+118T>C (n.3030+118T>C) c.8191T>C (p.Ser2731Pro) n.2120T>C c.8320T>C (p.Ser2774Pro) | |
2 | g.73490276T>G | CA347268229 | ALMS1 | c.7936T>G (p.Ser2646Ala) c.1328T>G c.5388T>G c.2383T>G (p.Ser795Ala) c.8317T>G (p.Ser2773Ala) c.896-29499T>G c.3030+118T>G (n.3030+118T>G) c.8191T>G (p.Ser2731Ala) n.2120T>G c.8320T>G (p.Ser2774Ala) | |
2 | g.73490277C>A | CA347268231 | ALMS1 | c.7937C>A (p.Ser2646Ter) c.1329C>A c.5389C>A c.2384C>A (p.Ser795Ter) c.8318C>A (p.Ser2773Ter) c.896-29498C>A c.3030+119C>A (n.3030+119C>A) c.8192C>A (p.Ser2731Ter) n.2121C>A c.8321C>A (p.Ser2774Ter) | |
2 | g.73490277C>G | CA347268233 | ALMS1 | c.7937C>G (p.Ser2646Ter) c.1329C>G c.5389C>G c.2384C>G (p.Ser795Ter) c.8318C>G (p.Ser2773Ter) c.896-29498C>G c.3030+119C>G (n.3030+119C>G) c.8192C>G (p.Ser2731Ter) n.2121C>G c.8321C>G (p.Ser2774Ter) | |
2 | g.73490277C>T | CA347268234 | ALMS1 | c.7937C>T (p.Ser2646Leu) c.1329C>T c.5389C>T c.2384C>T (p.Ser795Leu) c.8318C>T (p.Ser2773Leu) c.896-29498C>T c.3030+119C>T (n.3030+119C>T) c.8192C>T (p.Ser2731Leu) n.2121C>T c.8321C>T (p.Ser2774Leu) | |
2 | g.73490278A= | CA1260981810 | ALMS1 | c.7938A= (p.Ser2646=) c.1330A= c.5390A= c.2385A= (p.Ser795=) c.8319A= (p.Ser2773=) c.896-29497A= c.3030+120A= (n.3030+120A=) c.8193A= (p.Ser2731=) n.2122A= c.8322A= (p.Ser2774=) | |
2 | g.73490278A>C | CA427001506 | ALMS1 | c.7938A>C (p.Ser2646=) c.1330A>C c.5390A>C c.2385A>C (p.Ser795=) c.8319A>C (p.Ser2773=) c.896-29497A>C c.3030+120A>C (n.3030+120A>C) c.8193A>C (p.Ser2731=) n.2122A>C c.8322A>C (p.Ser2774=) | |
2 | g.73490278A>G | CA1714446 | ALMS1 | c.7938A>G (p.Ser2646=) c.1330A>G c.5390A>G c.2385A>G (p.Ser795=) c.8319A>G (p.Ser2773=) c.896-29497A>G c.3030+120A>G (n.3030+120A>G) c.8193A>G (p.Ser2731=) n.2122A>G c.8322A>G (p.Ser2774=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490278A>T | CA427001509 | ALMS1 | c.7938A>T (p.Ser2646=) c.1330A>T c.5390A>T c.2385A>T (p.Ser795=) c.8319A>T (p.Ser2773=) c.896-29497A>T c.3030+120A>T (n.3030+120A>T) c.8193A>T (p.Ser2731=) n.2122A>T c.8322A>T (p.Ser2774=) | |
2 | g.73490279T>A | CA347268237 | ALMS1 | c.7939T>A (p.Phe2647Ile) c.1331T>A c.5391T>A c.2386T>A (p.Phe796Ile) c.8320T>A (p.Phe2774Ile) c.896-29496T>A c.3030+121T>A (n.3030+121T>A) c.8194T>A (p.Phe2732Ile) n.2123T>A c.8323T>A (p.Phe2775Ile) | |
2 | g.73490279T>C | CA347268239 | ALMS1 | c.7939T>C (p.Phe2647Leu) c.1331T>C c.5391T>C c.2386T>C (p.Phe796Leu) c.8320T>C (p.Phe2774Leu) c.896-29496T>C c.3030+121T>C (n.3030+121T>C) c.8194T>C (p.Phe2732Leu) n.2123T>C c.8323T>C (p.Phe2775Leu) | |
2 | g.73490279T>G | CA347268240 | ALMS1 | c.7939T>G (p.Phe2647Val) c.1331T>G c.5391T>G c.2386T>G (p.Phe796Val) c.8320T>G (p.Phe2774Val) c.896-29496T>G c.3030+121T>G (n.3030+121T>G) c.8194T>G (p.Phe2732Val) n.2123T>G c.8323T>G (p.Phe2775Val) | |
2 | g.73490280T>A | CA347268241 | ALMS1 | c.7940T>A (p.Phe2647Tyr) c.1332T>A c.5392T>A c.2387T>A (p.Phe796Tyr) c.8321T>A (p.Phe2774Tyr) c.896-29495T>A c.3030+122T>A (n.3030+122T>A) c.8195T>A (p.Phe2732Tyr) n.2124T>A c.8324T>A (p.Phe2775Tyr) | |
2 | g.73490280T>C | CA347268242 | ALMS1 | c.7940T>C (p.Phe2647Ser) c.1332T>C c.5392T>C c.2387T>C (p.Phe796Ser) c.8321T>C (p.Phe2774Ser) c.896-29495T>C c.3030+122T>C (n.3030+122T>C) c.8195T>C (p.Phe2732Ser) n.2124T>C c.8324T>C (p.Phe2775Ser) | |
2 | g.73490280T>G | CA1714447 | ALMS1 | c.7940T>G (p.Phe2647Cys) c.1332T>G c.5392T>G c.2387T>G (p.Phe796Cys) c.8321T>G (p.Phe2774Cys) c.896-29495T>G c.3030+122T>G (n.3030+122T>G) c.8195T>G (p.Phe2732Cys) n.2124T>G c.8324T>G (p.Phe2775Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490280T= | CA1260981811 | ALMS1 | c.7940T= (p.Phe2647=) c.1332T= c.5392T= c.2387T= (p.Phe796=) c.8321T= (p.Phe2774=) c.896-29495T= c.3030+122T= (n.3030+122T=) c.8195T= (p.Phe2732=) n.2124T= c.8324T= (p.Phe2775=) | |
2 | g.73490281T>A | CA347268244 | ALMS1 | c.7941T>A (p.Phe2647Leu) c.1333T>A c.5393T>A c.2388T>A (p.Phe796Leu) c.8322T>A (p.Phe2774Leu) c.896-29494T>A c.3030+123T>A (n.3030+123T>A) c.8196T>A (p.Phe2732Leu) n.2125T>A c.8325T>A (p.Phe2775Leu) | |
2 | g.73490281T>C | CA427001519 | ALMS1 | c.7941T>C (p.Phe2647=) c.1333T>C c.5393T>C c.2388T>C (p.Phe796=) c.8322T>C (p.Phe2774=) c.896-29494T>C c.3030+123T>C (n.3030+123T>C) c.8196T>C (p.Phe2732=) n.2125T>C c.8325T>C (p.Phe2775=) | |
2 | g.73490281T>G | CA347268245 | ALMS1 | c.7941T>G (p.Phe2647Leu) c.1333T>G c.5393T>G c.2388T>G (p.Phe796Leu) c.8322T>G (p.Phe2774Leu) c.896-29494T>G c.3030+123T>G (n.3030+123T>G) c.8196T>G (p.Phe2732Leu) n.2125T>G c.8325T>G (p.Phe2775Leu) | |
2 | g.73490282A= | CA1260981812 | ALMS1 | c.7942A= (p.Lys2648=) c.1334A= c.5394A= c.2389A= (p.Lys797=) c.8323A= (p.Lys2775=) c.896-29493A= c.3030+124A= (n.3030+124A=) c.8197A= (p.Lys2733=) n.2126A= c.8326A= (p.Lys2776=) | |
2 | g.73490282A>C | CA347268246 | ALMS1 | c.7942A>C (p.Lys2648Gln) c.1334A>C c.5394A>C c.2389A>C (p.Lys797Gln) c.8323A>C (p.Lys2775Gln) c.896-29493A>C c.3030+124A>C (n.3030+124A>C) c.8197A>C (p.Lys2733Gln) n.2126A>C c.8326A>C (p.Lys2776Gln) | |
2 | g.73490282A>G | CA347268247 | ALMS1 | c.7942A>G (p.Lys2648Glu) c.1334A>G c.5394A>G c.2389A>G (p.Lys797Glu) c.8323A>G (p.Lys2775Glu) c.896-29493A>G c.3030+124A>G (n.3030+124A>G) c.8197A>G (p.Lys2733Glu) n.2126A>G c.8326A>G (p.Lys2776Glu) | ClinVar dbSNP gnomAD v4 |
2 | g.73490282A>T | CA347268249 | ALMS1 | c.7942A>T (p.Lys2648Ter) c.1334A>T c.5394A>T c.2389A>T (p.Lys797Ter) c.8323A>T (p.Lys2775Ter) c.896-29493A>T c.3030+124A>T (n.3030+124A>T) c.8197A>T (p.Lys2733Ter) n.2126A>T c.8326A>T (p.Lys2776Ter) | |
2 | g.73490283A>C | CA347268250 | ALMS1 | c.7943A>C (p.Lys2648Thr) c.1335A>C c.5395A>C c.2390A>C (p.Lys797Thr) c.8324A>C (p.Lys2775Thr) c.896-29492A>C c.3030+125A>C (n.3030+125A>C) c.8198A>C (p.Lys2733Thr) n.2127A>C c.8327A>C (p.Lys2776Thr) | |
2 | g.73490283A>G | CA347268252 | ALMS1 | c.7943A>G (p.Lys2648Arg) c.1335A>G c.5395A>G c.2390A>G (p.Lys797Arg) c.8324A>G (p.Lys2775Arg) c.896-29492A>G c.3030+125A>G (n.3030+125A>G) c.8198A>G (p.Lys2733Arg) n.2127A>G c.8327A>G (p.Lys2776Arg) | ClinVar |
2 | g.73490283A>T | CA347268253 | ALMS1 | c.7943A>T (p.Lys2648Ile) c.1335A>T c.5395A>T c.2390A>T (p.Lys797Ile) c.8324A>T (p.Lys2775Ile) c.896-29492A>T c.3030+125A>T (n.3030+125A>T) c.8198A>T (p.Lys2733Ile) n.2127A>T c.8327A>T (p.Lys2776Ile) | |
2 | g.73490284A>C | CA347268254 | ALMS1 | c.7944A>C (p.Lys2648Asn) c.1336A>C c.5396A>C c.2391A>C (p.Lys797Asn) c.8325A>C (p.Lys2775Asn) c.896-29491A>C c.3030+126A>C (n.3030+126A>C) c.8199A>C (p.Lys2733Asn) n.2128A>C c.8328A>C (p.Lys2776Asn) | |
2 | g.73490284A>G | CA427001528 | ALMS1 | c.7944A>G (p.Lys2648=) c.1336A>G c.5396A>G c.2391A>G (p.Lys797=) c.8325A>G (p.Lys2775=) c.896-29491A>G c.3030+126A>G (n.3030+126A>G) c.8199A>G (p.Lys2733=) n.2128A>G c.8328A>G (p.Lys2776=) | |
2 | g.73490284A>T | CA347268255 | ALMS1 | c.7944A>T (p.Lys2648Asn) c.1336A>T c.5396A>T c.2391A>T (p.Lys797Asn) c.8325A>T (p.Lys2775Asn) c.896-29491A>T c.3030+126A>T (n.3030+126A>T) c.8199A>T (p.Lys2733Asn) n.2128A>T c.8328A>T (p.Lys2776Asn) | |
2 | g.73490285A>C | CA347268258 | ALMS1 | c.7945A>C (p.Met2649Leu) c.1337A>C c.5397A>C c.2392A>C (p.Met798Leu) c.8326A>C (p.Met2776Leu) c.896-29490A>C c.3030+127A>C (n.3030+127A>C) c.8200A>C (p.Met2734Leu) n.2129A>C c.8329A>C (p.Met2777Leu) | |
2 | g.73490285A>G | CA347268261 | ALMS1 | c.7945A>G (p.Met2649Val) c.1337A>G c.5397A>G c.2392A>G (p.Met798Val) c.8326A>G (p.Met2776Val) c.896-29490A>G c.3030+127A>G (n.3030+127A>G) c.8200A>G (p.Met2734Val) n.2129A>G c.8329A>G (p.Met2777Val) | |
2 | g.73490285A>T | CA347268259 | ALMS1 | c.7945A>T (p.Met2649Leu) c.1337A>T c.5397A>T c.2392A>T (p.Met798Leu) c.8326A>T (p.Met2776Leu) c.896-29490A>T c.3030+127A>T (n.3030+127A>T) c.8200A>T (p.Met2734Leu) n.2129A>T c.8329A>T (p.Met2777Leu) | gnomAD v4 |
2 | g.73490286T>A | CA347268262 | ALMS1 | c.7946T>A (p.Met2649Lys) c.1338T>A c.5398T>A c.2393T>A (p.Met798Lys) c.8327T>A (p.Met2776Lys) c.896-29489T>A c.3030+128T>A (n.3030+128T>A) c.8201T>A (p.Met2734Lys) n.2130T>A c.8330T>A (p.Met2777Lys) | |
2 | g.73490286T>C | CA347268264 | ALMS1 | c.7946T>C (p.Met2649Thr) c.1338T>C c.5398T>C c.2393T>C (p.Met798Thr) c.8327T>C (p.Met2776Thr) c.896-29489T>C c.3030+128T>C (n.3030+128T>C) c.8201T>C (p.Met2734Thr) n.2130T>C c.8330T>C (p.Met2777Thr) | |
2 | g.73490286T>G | CA347268265 | ALMS1 | c.7946T>G (p.Met2649Arg) c.1338T>G c.5398T>G c.2393T>G (p.Met798Arg) c.8327T>G (p.Met2776Arg) c.896-29489T>G c.3030+128T>G (n.3030+128T>G) c.8201T>G (p.Met2734Arg) n.2130T>G c.8330T>G (p.Met2777Arg) | |
2 | g.73490286_73490330del | CA2505291245 | ALMS1 | c.7946_7990del (p.Met2649_Gly2664delinsSer) c.1338_1382del c.5398_5442del c.2393_2437del (p.Met798_Gly813delinsSer) c.8327_8371del (p.Met2776_Gly2791delinsSer) c.896-29489_896-29445del c.3030+128_3030+172del (n.3030+128_3030+172del) c.8201_8245del (p.Met2734_Gly2749delinsSer) n.2130_2174del c.8330_8374del (p.Met2777_Gly2792delinsSer) | |
2 | g.73490287G>A | CA1714448 | ALMS1 | c.7947G>A (p.Met2649Ile) c.1339G>A c.5399G>A c.2394G>A (p.Met798Ile) c.8328G>A (p.Met2776Ile) c.896-29488G>A c.3030+129G>A (n.3030+129G>A) c.8202G>A (p.Met2734Ile) n.2131G>A c.8331G>A (p.Met2777Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490287G>C | CA347268267 | ALMS1 | c.7947G>C (p.Met2649Ile) c.1339G>C c.5399G>C c.2394G>C (p.Met798Ile) c.8328G>C (p.Met2776Ile) c.896-29488G>C c.3030+129G>C (n.3030+129G>C) c.8202G>C (p.Met2734Ile) n.2131G>C c.8331G>C (p.Met2777Ile) | |
2 | g.73490287G= | CA1260981813 | ALMS1 | c.7947G= (p.Met2649=) c.1339G= c.5399G= c.2394G= (p.Met798=) c.8328G= (p.Met2776=) c.896-29488G= c.3030+129G= (n.3030+129G=) c.8202G= (p.Met2734=) n.2131G= c.8331G= (p.Met2777=) | |
2 | g.73490287G>T | CA347268268 | ALMS1 | c.7947G>T (p.Met2649Ile) c.1339G>T c.5399G>T c.2394G>T (p.Met798Ile) c.8328G>T (p.Met2776Ile) c.896-29488G>T c.3030+129G>T (n.3030+129G>T) c.8202G>T (p.Met2734Ile) n.2131G>T c.8331G>T (p.Met2777Ile) | |
2 | g.73490288C>A | CA347268273 | ALMS1 | c.7948C>A (p.His2650Asn) c.1340C>A c.5400C>A c.2395C>A (p.His799Asn) c.8329C>A (p.His2777Asn) c.896-29487C>A c.3030+130C>A (n.3030+130C>A) c.8203C>A (p.His2735Asn) n.2132C>A c.8332C>A (p.His2778Asn) | |
2 | g.73490288C= | CA1260981814 | ALMS1 | c.7948C= (p.His2650=) c.1340C= c.5400C= c.2395C= (p.His799=) c.8329C= (p.His2777=) c.896-29487C= c.3030+130C= (n.3030+130C=) c.8203C= (p.His2735=) n.2132C= c.8332C= (p.His2778=) | |
2 | g.73490288C>G | CA347268270 | ALMS1 | c.7948C>G (p.His2650Asp) c.1340C>G c.5400C>G c.2395C>G (p.His799Asp) c.8329C>G (p.His2777Asp) c.896-29487C>G c.3030+130C>G (n.3030+130C>G) c.8203C>G (p.His2735Asp) n.2132C>G c.8332C>G (p.His2778Asp) | |
2 | g.73490288C>T | CA347268272 | ALMS1 | c.7948C>T (p.His2650Tyr) c.1340C>T c.5400C>T c.2395C>T (p.His799Tyr) c.8329C>T (p.His2777Tyr) c.896-29487C>T c.3030+130C>T (n.3030+130C>T) c.8203C>T (p.His2735Tyr) n.2132C>T c.8332C>T (p.His2778Tyr) | dbSNP |
2 | g.73490289A= | CA1260981816 | ALMS1 | c.7949A= (p.His2650=) c.1341A= c.5401A= c.2396A= (p.His799=) c.8330A= (p.His2777=) c.896-29486A= c.3030+131A= (n.3030+131A=) c.8204A= (p.His2735=) n.2133A= c.8333A= (p.His2778=) | |
2 | g.73490289A>C | CA1714449 | ALMS1 | c.7949A>C (p.His2650Pro) c.1341A>C c.5401A>C c.2396A>C (p.His799Pro) c.8330A>C (p.His2777Pro) c.896-29486A>C c.3030+131A>C (n.3030+131A>C) c.8204A>C (p.His2735Pro) n.2133A>C c.8333A>C (p.His2778Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490289A>G | CA347268275 | ALMS1 | c.7949A>G (p.His2650Arg) c.1341A>G c.5401A>G c.2396A>G (p.His799Arg) c.8330A>G (p.His2777Arg) c.896-29486A>G c.3030+131A>G (n.3030+131A>G) c.8204A>G (p.His2735Arg) n.2133A>G c.8333A>G (p.His2778Arg) | gnomAD v4 |
2 | g.73490289A>T | CA1714450 | ALMS1 | c.7949A>T (p.His2650Leu) c.1341A>T c.5401A>T c.2396A>T (p.His799Leu) c.8330A>T (p.His2777Leu) c.896-29486A>T c.3030+131A>T (n.3030+131A>T) c.8204A>T (p.His2735Leu) n.2133A>T c.8333A>T (p.His2778Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490290T>A | CA347268279 | ALMS1 | c.7950T>A (p.His2650Gln) c.1342T>A c.5402T>A c.2397T>A (p.His799Gln) c.8331T>A (p.His2777Gln) c.896-29485T>A c.3030+132T>A (n.3030+132T>A) c.8205T>A (p.His2735Gln) n.2134T>A c.8334T>A (p.His2778Gln) | |
2 | g.73490290T>C | CA427001546 | ALMS1 | c.7950T>C (p.His2650=) c.1342T>C c.5402T>C c.2397T>C (p.His799=) c.8331T>C (p.His2777=) c.896-29485T>C c.3030+132T>C (n.3030+132T>C) c.8205T>C (p.His2735=) n.2134T>C c.8334T>C (p.His2778=) | gnomAD v4 |
2 | g.73490290T>G | CA347268281 | ALMS1 | c.7950T>G (p.His2650Gln) c.1342T>G c.5402T>G c.2397T>G (p.His799Gln) c.8331T>G (p.His2777Gln) c.896-29485T>G c.3030+132T>G (n.3030+132T>G) c.8205T>G (p.His2735Gln) n.2134T>G c.8334T>G (p.His2778Gln) |