Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.73490095T>A | CA427000911 | ALMS1 | c.7755T>A (p.Thr2585=) c.1147T>A c.5207T>A c.2202T>A (p.Thr734=) c.8136T>A (p.Thr2712=) c.896-29680T>A c.2967T>A (p.Thr989=) c.8010T>A (p.Thr2670=) n.1939T>A c.8139T>A (p.Thr2713=) | gnomAD v4 |
2 | g.73490095T>C | CA427000913 | ALMS1 | c.7755T>C (p.Thr2585=) c.1147T>C c.5207T>C c.2202T>C (p.Thr734=) c.8136T>C (p.Thr2712=) c.896-29680T>C c.2967T>C (p.Thr989=) c.8010T>C (p.Thr2670=) n.1939T>C c.8139T>C (p.Thr2713=) | |
2 | g.73490095T>G | CA427000914 | ALMS1 | c.7755T>G (p.Thr2585=) c.1147T>G c.5207T>G c.2202T>G (p.Thr734=) c.8136T>G (p.Thr2712=) c.896-29680T>G c.2967T>G (p.Thr989=) c.8010T>G (p.Thr2670=) n.1939T>G c.8139T>G (p.Thr2713=) | |
2 | g.73490096A= | CA1260981458 | ALMS1 | c.7756A= (p.Thr2586=) c.1148A= c.5208A= c.2203A= (p.Thr735=) c.8137A= (p.Thr2713=) c.896-29679A= c.2968A= (p.Thr990=) c.8011A= (p.Thr2671=) n.1940A= c.8140A= (p.Thr2714=) | |
2 | g.73490096A>C | CA347267607 | ALMS1 | c.7756A>C (p.Thr2586Pro) c.1148A>C c.5208A>C c.2203A>C (p.Thr735Pro) c.8137A>C (p.Thr2713Pro) c.896-29679A>C c.2968A>C (p.Thr990Pro) c.8011A>C (p.Thr2671Pro) n.1940A>C c.8140A>C (p.Thr2714Pro) | |
2 | g.73490096A>G | CA1714413 | ALMS1 | c.7756A>G (p.Thr2586Ala) c.1148A>G c.5208A>G c.2203A>G (p.Thr735Ala) c.8137A>G (p.Thr2713Ala) c.896-29679A>G c.2968A>G (p.Thr990Ala) c.8011A>G (p.Thr2671Ala) n.1940A>G c.8140A>G (p.Thr2714Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490096A>T | CA347267621 | ALMS1 | c.7756A>T (p.Thr2586Ser) c.1148A>T c.5208A>T c.2203A>T (p.Thr735Ser) c.8137A>T (p.Thr2713Ser) c.896-29679A>T c.2968A>T (p.Thr990Ser) c.8011A>T (p.Thr2671Ser) n.1940A>T c.8140A>T (p.Thr2714Ser) | |
2 | g.73490098_73490106del | CA913090805 | ALMS1 | c.7758_7766del (p.Ser2587_Thr2589del) c.1150_1158del c.5210_5218del c.2205_2213del (p.Ser736_Thr738del) c.8139_8147del (p.Ser2714_Thr2716del) c.896-29677_896-29669del c.2970_2978del (p.Ser991_Thr993del) c.8013_8021del (p.Ser2672_Thr2674del) n.1942_1950del c.8142_8150del (p.Ser2715_Thr2717del) | |
2 | g.73490097C>A | CA347267628 | ALMS1 | c.7757C>A (p.Thr2586Asn) c.1149C>A c.5209C>A c.2204C>A (p.Thr735Asn) c.8138C>A (p.Thr2713Asn) c.896-29678C>A c.2969C>A (p.Thr990Asn) c.8012C>A (p.Thr2671Asn) n.1941C>A c.8141C>A (p.Thr2714Asn) | |
2 | g.73490097C= | CA1260981463 | ALMS1 | c.7757C= (p.Thr2586=) c.1149C= c.5209C= c.2204C= (p.Thr735=) c.8138C= (p.Thr2713=) c.896-29678C= c.2969C= (p.Thr990=) c.8012C= (p.Thr2671=) n.1941C= c.8141C= (p.Thr2714=) | |
2 | g.73490097C>G | CA347267627 | ALMS1 | c.7757C>G (p.Thr2586Ser) c.1149C>G c.5209C>G c.2204C>G (p.Thr735Ser) c.8138C>G (p.Thr2713Ser) c.896-29678C>G c.2969C>G (p.Thr990Ser) c.8012C>G (p.Thr2671Ser) n.1941C>G c.8141C>G (p.Thr2714Ser) | |
2 | g.73490097C>T | CA347267624 | ALMS1 | c.7757C>T (p.Thr2586Ile) c.1149C>T c.5209C>T c.2204C>T (p.Thr735Ile) c.8138C>T (p.Thr2713Ile) c.896-29678C>T c.2969C>T (p.Thr990Ile) c.8012C>T (p.Thr2671Ile) n.1941C>T c.8141C>T (p.Thr2714Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490097_73490101del | CA2830535128 | ALMS1 | c.7757_7761del (p.Thr2586AsnfsTer10) c.1149_1153del c.5209_5213del c.2204_2208del (p.Thr735AsnfsTer10) c.8138_8142del (p.Thr2713AsnfsTer10) c.896-29678_896-29674del c.2969_2973del (p.Thr990AsnfsTer10) c.8012_8016del (p.Thr2671AsnfsTer10) n.1941_1945del c.8141_8145del (p.Thr2714AsnfsTer10) | |
2 | g.73490097_73490105delinsCCTCCATCA | CA1260981461 | ALMS1 | c.7757_7765delinsCCTCCATCA (p.Thr2586=) c.1149_1157delinsCCTCCATCA c.5209_5217delinsCCTCCATCA c.2204_2212delinsCCTCCATCA (p.Thr735=) c.8138_8146delinsCCTCCATCA (p.Thr2713=) c.896-29678_896-29670delinsCCTCCATCA c.2969_2977delinsCCTCCATCA (p.Thr990=) c.8012_8020delinsCCTCCATCA (p.Thr2671=) n.1941_1949delinsCCTCCATCA c.8141_8149delinsCCTCCATCA (p.Thr2714=) | |
2 | g.73490098C>A | CA427000922 | ALMS1 | c.7758C>A (p.Thr2586=) c.1150C>A c.5210C>A c.2205C>A (p.Thr735=) c.8139C>A (p.Thr2713=) c.896-29677C>A c.2970C>A (p.Thr990=) c.8013C>A (p.Thr2671=) n.1942C>A c.8142C>A (p.Thr2714=) | |
2 | g.73490098C>G | CA427000920 | ALMS1 | c.7758C>G (p.Thr2586=) c.1150C>G c.5210C>G c.2205C>G (p.Thr735=) c.8139C>G (p.Thr2713=) c.896-29677C>G c.2970C>G (p.Thr990=) c.8013C>G (p.Thr2671=) n.1942C>G c.8142C>G (p.Thr2714=) | |
2 | g.73490098C>T | CA427000921 | ALMS1 | c.7758C>T (p.Thr2586=) c.1150C>T c.5210C>T c.2205C>T (p.Thr735=) c.8139C>T (p.Thr2713=) c.896-29677C>T c.2970C>T (p.Thr990=) c.8013C>T (p.Thr2671=) n.1942C>T c.8142C>T (p.Thr2714=) | ClinVar dbSNP |
2 | g.73490100_73490107del | CA658821975 | ALMS1 | c.7760_7767del (p.Ser2587PhefsTer8) c.1152_1159del c.5212_5219del c.2207_2214del (p.Ser736PhefsTer8) c.8141_8148del (p.Ser2714PhefsTer8) c.896-29675_896-29668del c.2972_2979del (p.Ser991PhefsTer8) c.8015_8022del (p.Ser2672PhefsTer8) n.1944_1951del c.8144_8151del (p.Ser2715PhefsTer8) | ClinVar dbSNP |
2 | g.73490099T>A | CA347267631 | ALMS1 | c.7759T>A (p.Ser2587Thr) c.1151T>A c.5211T>A c.2206T>A (p.Ser736Thr) c.8140T>A (p.Ser2714Thr) c.896-29676T>A c.2971T>A (p.Ser991Thr) c.8014T>A (p.Ser2672Thr) n.1943T>A c.8143T>A (p.Ser2715Thr) | gnomAD v4 |
2 | g.73490099T>C | CA347267633 | ALMS1 | c.7759T>C (p.Ser2587Pro) c.1151T>C c.5211T>C c.2206T>C (p.Ser736Pro) c.8140T>C (p.Ser2714Pro) c.896-29676T>C c.2971T>C (p.Ser991Pro) c.8014T>C (p.Ser2672Pro) n.1943T>C c.8143T>C (p.Ser2715Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490099T>G | CA347267635 | ALMS1 | c.7759T>G (p.Ser2587Ala) c.1151T>G c.5211T>G c.2206T>G (p.Ser736Ala) c.8140T>G (p.Ser2714Ala) c.896-29676T>G c.2971T>G (p.Ser991Ala) c.8014T>G (p.Ser2672Ala) n.1943T>G c.8143T>G (p.Ser2715Ala) | |
2 | g.73490099T= | CA1260981470 | ALMS1 | c.7759T= (p.Ser2587=) c.1151T= c.5211T= c.2206T= (p.Ser736=) c.8140T= (p.Ser2714=) c.896-29676T= c.2971T= (p.Ser991=) c.8014T= (p.Ser2672=) n.1943T= c.8143T= (p.Ser2715=) | |
2 | g.73490100C>A | CA347267637 | ALMS1 | c.7760C>A (p.Ser2587Tyr) c.1152C>A c.5212C>A c.2207C>A (p.Ser736Tyr) c.8141C>A (p.Ser2714Tyr) c.896-29675C>A c.2972C>A (p.Ser991Tyr) c.8015C>A (p.Ser2672Tyr) n.1944C>A c.8144C>A (p.Ser2715Tyr) | |
2 | g.73490100C>G | CA347267640 | ALMS1 | c.7760C>G (p.Ser2587Cys) c.1152C>G c.5212C>G c.2207C>G (p.Ser736Cys) c.8141C>G (p.Ser2714Cys) c.896-29675C>G c.2972C>G (p.Ser991Cys) c.8015C>G (p.Ser2672Cys) n.1944C>G c.8144C>G (p.Ser2715Cys) | |
2 | g.73490100C>T | CA347267642 | ALMS1 | c.7760C>T (p.Ser2587Phe) c.1152C>T c.5212C>T c.2207C>T (p.Ser736Phe) c.8141C>T (p.Ser2714Phe) c.896-29675C>T c.2972C>T (p.Ser991Phe) c.8015C>T (p.Ser2672Phe) n.1944C>T c.8144C>T (p.Ser2715Phe) | |
2 | g.73490101C>A | CA427000943 | ALMS1 | c.7761C>A (p.Ser2587=) c.1153C>A c.5213C>A c.2208C>A (p.Ser736=) c.8142C>A (p.Ser2714=) c.896-29674C>A c.2973C>A (p.Ser991=) c.8016C>A (p.Ser2672=) n.1945C>A c.8145C>A (p.Ser2715=) | |
2 | g.73490101C= | CA1260981474 | ALMS1 | c.7761C= (p.Ser2587=) c.1153C= c.5213C= c.2208C= (p.Ser736=) c.8142C= (p.Ser2714=) c.896-29674C= c.2973C= (p.Ser991=) c.8016C= (p.Ser2672=) n.1945C= c.8145C= (p.Ser2715=) | |
2 | g.73490101C>G | CA427000944 | ALMS1 | c.7761C>G (p.Ser2587=) c.1153C>G c.5213C>G c.2208C>G (p.Ser736=) c.8142C>G (p.Ser2714=) c.896-29674C>G c.2973C>G (p.Ser991=) c.8016C>G (p.Ser2672=) n.1945C>G c.8145C>G (p.Ser2715=) | dbSNP |
2 | g.73490101C>T | CA427000946 | ALMS1 | c.7761C>T (p.Ser2587=) c.1153C>T c.5213C>T c.2208C>T (p.Ser736=) c.8142C>T (p.Ser2714=) c.896-29674C>T c.2973C>T (p.Ser991=) c.8016C>T (p.Ser2672=) n.1945C>T c.8145C>T (p.Ser2715=) | ClinVar dbSNP gnomAD v4 |
2 | g.73490102A= | CA1260981479 | ALMS1 | c.7762A= (p.Ile2588=) c.1154A= c.5214A= c.2209A= (p.Ile737=) c.8143A= (p.Ile2715=) c.896-29673A= c.2974A= (p.Ile992=) c.8017A= (p.Ile2673=) n.1946A= c.8146A= (p.Ile2716=) | |
2 | g.73490102A>C | CA347267644 | ALMS1 | c.7762A>C (p.Ile2588Leu) c.1154A>C c.5214A>C c.2209A>C (p.Ile737Leu) c.8143A>C (p.Ile2715Leu) c.896-29673A>C c.2974A>C (p.Ile992Leu) c.8017A>C (p.Ile2673Leu) n.1946A>C c.8146A>C (p.Ile2716Leu) | |
2 | g.73490102A>G | CA1714414 | ALMS1 | c.7762A>G (p.Ile2588Val) c.1154A>G c.5214A>G c.2209A>G (p.Ile737Val) c.8143A>G (p.Ile2715Val) c.896-29673A>G c.2974A>G (p.Ile992Val) c.8017A>G (p.Ile2673Val) n.1946A>G c.8146A>G (p.Ile2716Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490102A>T | CA347267643 | ALMS1 | c.7762A>T (p.Ile2588Phe) c.1154A>T c.5214A>T c.2209A>T (p.Ile737Phe) c.8143A>T (p.Ile2715Phe) c.896-29673A>T c.2974A>T (p.Ile992Phe) c.8017A>T (p.Ile2673Phe) n.1946A>T c.8146A>T (p.Ile2716Phe) | gnomAD v4 |
2 | g.73490103T>A | CA347267647 | ALMS1 | c.7763T>A (p.Ile2588Asn) c.1155T>A c.5215T>A c.2210T>A (p.Ile737Asn) c.8144T>A (p.Ile2715Asn) c.896-29672T>A c.2975T>A (p.Ile992Asn) c.8018T>A (p.Ile2673Asn) n.1947T>A c.8147T>A (p.Ile2716Asn) | |
2 | g.73490103T>C | CA347267650 | ALMS1 | c.7763T>C (p.Ile2588Thr) c.1155T>C c.5215T>C c.2210T>C (p.Ile737Thr) c.8144T>C (p.Ile2715Thr) c.896-29672T>C c.2975T>C (p.Ile992Thr) c.8018T>C (p.Ile2673Thr) n.1947T>C c.8147T>C (p.Ile2716Thr) | |
2 | g.73490103T>G | CA347267651 | ALMS1 | c.7763T>G (p.Ile2588Ser) c.1155T>G c.5215T>G c.2210T>G (p.Ile737Ser) c.8144T>G (p.Ile2715Ser) c.896-29672T>G c.2975T>G (p.Ile992Ser) c.8018T>G (p.Ile2673Ser) n.1947T>G c.8147T>G (p.Ile2716Ser) | |
2 | g.73490103_73490104del | CA2830535129 | ALMS1 | c.7763_7764del (p.Ile2588AsnfsTer9) c.1155_1156del c.5215_5216del c.2210_2211del (p.Ile737AsnfsTer9) c.8144_8145del (p.Ile2715AsnfsTer9) c.896-29672_896-29671del c.2975_2976del (p.Ile992AsnfsTer9) c.8018_8019del (p.Ile2673AsnfsTer9) n.1947_1948del c.8147_8148del (p.Ile2716AsnfsTer9) | |
2 | g.73490104C>A | CA427000954 | ALMS1 | c.7764C>A (p.Ile2588=) c.1156C>A c.5216C>A c.2211C>A (p.Ile737=) c.8145C>A (p.Ile2715=) c.896-29671C>A c.2976C>A (p.Ile992=) c.8019C>A (p.Ile2673=) n.1948C>A c.8148C>A (p.Ile2716=) | |
2 | g.73490104C>G | CA347267653 | ALMS1 | c.7764C>G (p.Ile2588Met) c.1156C>G c.5216C>G c.2211C>G (p.Ile737Met) c.8145C>G (p.Ile2715Met) c.896-29671C>G c.2976C>G (p.Ile992Met) c.8019C>G (p.Ile2673Met) n.1948C>G c.8148C>G (p.Ile2716Met) | |
2 | g.73490104C>T | CA427000953 | ALMS1 | c.7764C>T (p.Ile2588=) c.1156C>T c.5216C>T c.2211C>T (p.Ile737=) c.8145C>T (p.Ile2715=) c.896-29671C>T c.2976C>T (p.Ile992=) c.8019C>T (p.Ile2673=) n.1948C>T c.8148C>T (p.Ile2716=) | |
2 | g.73490105A= | CA1260981484 | ALMS1 | c.7765A= (p.Thr2589=) c.1157A= c.5217A= c.2212A= (p.Thr738=) c.8146A= (p.Thr2716=) c.896-29670A= c.2977A= (p.Thr993=) c.8020A= (p.Thr2674=) n.1949A= c.8149A= (p.Thr2717=) | |
2 | g.73490105A>C | CA347267655 | ALMS1 | c.7765A>C (p.Thr2589Pro) c.1157A>C c.5217A>C c.2212A>C (p.Thr738Pro) c.8146A>C (p.Thr2716Pro) c.896-29670A>C c.2977A>C (p.Thr993Pro) c.8020A>C (p.Thr2674Pro) n.1949A>C c.8149A>C (p.Thr2717Pro) | ClinVar dbSNP |
2 | g.73490105A>G | CA347267656 | ALMS1 | c.7765A>G (p.Thr2589Ala) c.1157A>G c.5217A>G c.2212A>G (p.Thr738Ala) c.8146A>G (p.Thr2716Ala) c.896-29670A>G c.2977A>G (p.Thr993Ala) c.8020A>G (p.Thr2674Ala) n.1949A>G c.8149A>G (p.Thr2717Ala) | |
2 | g.73490105A>T | CA347267657 | ALMS1 | c.7765A>T (p.Thr2589Ser) c.1157A>T c.5217A>T c.2212A>T (p.Thr738Ser) c.8146A>T (p.Thr2716Ser) c.896-29670A>T c.2977A>T (p.Thr993Ser) c.8020A>T (p.Thr2674Ser) n.1949A>T c.8149A>T (p.Thr2717Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490106C>A | CA347267660 | ALMS1 | c.7766C>A (p.Thr2589Asn) c.1158C>A c.5218C>A c.2213C>A (p.Thr738Asn) c.8147C>A (p.Thr2716Asn) c.896-29669C>A c.2978C>A (p.Thr993Asn) c.8021C>A (p.Thr2674Asn) n.1950C>A c.8150C>A (p.Thr2717Asn) | |
2 | g.73490106C= | CA1260981487 | ALMS1 | c.7766C= (p.Thr2589=) c.1158C= c.5218C= c.2213C= (p.Thr738=) c.8147C= (p.Thr2716=) c.896-29669C= c.2978C= (p.Thr993=) c.8021C= (p.Thr2674=) n.1950C= c.8150C= (p.Thr2717=) | |
2 | g.73490106C>G | CA347267662 | ALMS1 | c.7766C>G (p.Thr2589Ser) c.1158C>G c.5218C>G c.2213C>G (p.Thr738Ser) c.8147C>G (p.Thr2716Ser) c.896-29669C>G c.2978C>G (p.Thr993Ser) c.8021C>G (p.Thr2674Ser) n.1950C>G c.8150C>G (p.Thr2717Ser) | |
2 | g.73490106C>T | CA347267663 | ALMS1 | c.7766C>T (p.Thr2589Ile) c.1158C>T c.5218C>T c.2213C>T (p.Thr738Ile) c.8147C>T (p.Thr2716Ile) c.896-29669C>T c.2978C>T (p.Thr993Ile) c.8021C>T (p.Thr2674Ile) n.1950C>T c.8150C>T (p.Thr2717Ile) | gnomAD v4 |
2 | g.73490106dup | CA913090806 | ALMS1 | c.7766dup (p.Ser2591PhefsTer7) c.1158dup c.5218dup c.2213dup (p.Ser740PhefsTer7) c.8147dup (p.Ser2718PhefsTer7) c.896-29669dup c.2978dup (p.Ser995PhefsTer7) c.8021dup (p.Ser2676PhefsTer7) n.1950dup c.8150dup (p.Ser2719PhefsTer7) | |
2 | g.73490107T>A | CA427000961 | ALMS1 | c.7767T>A (p.Thr2589=) c.1159T>A c.5219T>A c.2214T>A (p.Thr738=) c.8148T>A (p.Thr2716=) c.896-29668T>A c.2979T>A (p.Thr993=) c.8022T>A (p.Thr2674=) n.1951T>A c.8151T>A (p.Thr2717=) | |
2 | g.73490107T>C | CA427000962 | ALMS1 | c.7767T>C (p.Thr2589=) c.1159T>C c.5219T>C c.2214T>C (p.Thr738=) c.8148T>C (p.Thr2716=) c.896-29668T>C c.2979T>C (p.Thr993=) c.8022T>C (p.Thr2674=) n.1951T>C c.8151T>C (p.Thr2717=) | |
2 | g.73490107T>G | CA427000964 | ALMS1 | c.7767T>G (p.Thr2589=) c.1159T>G c.5219T>G c.2214T>G (p.Thr738=) c.8148T>G (p.Thr2716=) c.896-29668T>G c.2979T>G (p.Thr993=) c.8022T>G (p.Thr2674=) n.1951T>G c.8151T>G (p.Thr2717=) | |
2 | g.73490111dup | CA658821976 | ALMS1 | c.7771dup (p.Ser2591PhefsTer7) c.1163dup c.5223dup c.2218dup (p.Ser740PhefsTer7) c.8152dup (p.Ser2718PhefsTer7) c.896-29664dup c.2983dup (p.Ser995PhefsTer7) c.8026dup (p.Ser2676PhefsTer7) n.1955dup c.8155dup (p.Ser2719PhefsTer7) | ClinVar dbSNP |
2 | g.73490110_73490111del | CA2580068236 | ALMS1 | c.7770_7771del (p.Ser2591IlefsTer6) c.1162_1163del c.5222_5223del c.2217_2218del (p.Ser740IlefsTer6) c.8151_8152del (p.Ser2718IlefsTer6) c.896-29665_896-29664del c.2982_2983del (p.Ser995IlefsTer6) c.8025_8026del (p.Ser2676IlefsTer6) n.1954_1955del c.8154_8155del (p.Ser2719IlefsTer6) | ClinVar |
2 | g.73490108T>A | CA347267665 | ALMS1 | c.7768T>A (p.Phe2590Ile) c.1160T>A c.5220T>A c.2215T>A (p.Phe739Ile) c.8149T>A (p.Phe2717Ile) c.896-29667T>A c.2980T>A (p.Phe994Ile) c.8023T>A (p.Phe2675Ile) n.1952T>A c.8152T>A (p.Phe2718Ile) | |
2 | g.73490108T>C | CA347267667 | ALMS1 | c.7768T>C (p.Phe2590Leu) c.1160T>C c.5220T>C c.2215T>C (p.Phe739Leu) c.8149T>C (p.Phe2717Leu) c.896-29667T>C c.2980T>C (p.Phe994Leu) c.8023T>C (p.Phe2675Leu) n.1952T>C c.8152T>C (p.Phe2718Leu) | |
2 | g.73490108T>G | CA347267669 | ALMS1 | c.7768T>G (p.Phe2590Val) c.1160T>G c.5220T>G c.2215T>G (p.Phe739Val) c.8149T>G (p.Phe2717Val) c.896-29667T>G c.2980T>G (p.Phe994Val) c.8023T>G (p.Phe2675Val) n.1952T>G c.8152T>G (p.Phe2718Val) | gnomAD v4 |
2 | g.73490109T>A | CA347267670 | ALMS1 | c.7769T>A (p.Phe2590Tyr) c.1161T>A c.5221T>A c.2216T>A (p.Phe739Tyr) c.8150T>A (p.Phe2717Tyr) c.896-29666T>A c.2981T>A (p.Phe994Tyr) c.8024T>A (p.Phe2675Tyr) n.1953T>A c.8153T>A (p.Phe2718Tyr) | |
2 | g.73490109T>C | CA347267673 | ALMS1 | c.7769T>C (p.Phe2590Ser) c.1161T>C c.5221T>C c.2216T>C (p.Phe739Ser) c.8150T>C (p.Phe2717Ser) c.896-29666T>C c.2981T>C (p.Phe994Ser) c.8024T>C (p.Phe2675Ser) n.1953T>C c.8153T>C (p.Phe2718Ser) | |
2 | g.73490109T>G | CA347267672 | ALMS1 | c.7769T>G (p.Phe2590Cys) c.1161T>G c.5221T>G c.2216T>G (p.Phe739Cys) c.8150T>G (p.Phe2717Cys) c.896-29666T>G c.2981T>G (p.Phe994Cys) c.8024T>G (p.Phe2675Cys) n.1953T>G c.8153T>G (p.Phe2718Cys) | ClinVar |
2 | g.73490110T>A | CA347267675 | ALMS1 | c.7770T>A (p.Phe2590Leu) c.1162T>A c.5222T>A c.2217T>A (p.Phe739Leu) c.8151T>A (p.Phe2717Leu) c.896-29665T>A c.2982T>A (p.Phe994Leu) c.8025T>A (p.Phe2675Leu) n.1954T>A c.8154T>A (p.Phe2718Leu) | |
2 | g.73490110T>C | CA427000972 | ALMS1 | c.7770T>C (p.Phe2590=) c.1162T>C c.5222T>C c.2217T>C (p.Phe739=) c.8151T>C (p.Phe2717=) c.896-29665T>C c.2982T>C (p.Phe994=) c.8025T>C (p.Phe2675=) n.1954T>C c.8154T>C (p.Phe2718=) | |
2 | g.73490110T>G | CA347267676 | ALMS1 | c.7770T>G (p.Phe2590Leu) c.1162T>G c.5222T>G c.2217T>G (p.Phe739Leu) c.8151T>G (p.Phe2717Leu) c.896-29665T>G c.2982T>G (p.Phe994Leu) c.8025T>G (p.Phe2675Leu) n.1954T>G c.8154T>G (p.Phe2718Leu) | |
2 | g.73490111T>A | CA347267677 | ALMS1 | c.7771T>A (p.Ser2591Thr) c.1163T>A c.5223T>A c.2218T>A (p.Ser740Thr) c.8152T>A (p.Ser2718Thr) c.896-29664T>A c.2983T>A (p.Ser995Thr) c.8026T>A (p.Ser2676Thr) n.1955T>A c.8155T>A (p.Ser2719Thr) | |
2 | g.73490111T>C | CA50378139 | ALMS1 | c.7771T>C (p.Ser2591Pro) c.1163T>C c.5223T>C c.2218T>C (p.Ser740Pro) c.8152T>C (p.Ser2718Pro) c.896-29664T>C c.2983T>C (p.Ser995Pro) c.8026T>C (p.Ser2676Pro) n.1955T>C c.8155T>C (p.Ser2719Pro) | ClinVar dbSNP |
2 | g.73490111T>G | CA347267681 | ALMS1 | c.7771T>G (p.Ser2591Ala) c.1163T>G c.5223T>G c.2218T>G (p.Ser740Ala) c.8152T>G (p.Ser2718Ala) c.896-29664T>G c.2983T>G (p.Ser995Ala) c.8026T>G (p.Ser2676Ala) n.1955T>G c.8155T>G (p.Ser2719Ala) | gnomAD v4 |
2 | g.73490111T= | CA1260981498 | ALMS1 | c.7771T= (p.Ser2591=) c.1163T= c.5223T= c.2218T= (p.Ser740=) c.8152T= (p.Ser2718=) c.896-29664T= c.2983T= (p.Ser995=) c.8026T= (p.Ser2676=) n.1955T= c.8155T= (p.Ser2719=) | |
2 | g.73490112C>A | CA347267686 | ALMS1 | c.7772C>A (p.Ser2591Ter) c.1164C>A c.5224C>A c.2219C>A (p.Ser740Ter) c.8153C>A (p.Ser2718Ter) c.896-29663C>A c.2984C>A (p.Ser995Ter) c.8027C>A (p.Ser2676Ter) n.1956C>A c.8156C>A (p.Ser2719Ter) | ClinVar |
2 | g.73490112C>G | CA347267684 | ALMS1 | c.7772C>G (p.Ser2591Ter) c.1164C>G c.5224C>G c.2219C>G (p.Ser740Ter) c.8153C>G (p.Ser2718Ter) c.896-29663C>G c.2984C>G (p.Ser995Ter) c.8027C>G (p.Ser2676Ter) n.1956C>G c.8156C>G (p.Ser2719Ter) | |
2 | g.73490112C>T | CA347267682 | ALMS1 | c.7772C>T (p.Ser2591Leu) c.1164C>T c.5224C>T c.2219C>T (p.Ser740Leu) c.8153C>T (p.Ser2718Leu) c.896-29663C>T c.2984C>T (p.Ser995Leu) c.8027C>T (p.Ser2676Leu) n.1956C>T c.8156C>T (p.Ser2719Leu) | |
2 | g.73490113A>C | CA427000981 | ALMS1 | c.7773A>C (p.Ser2591=) c.1165A>C c.5225A>C c.2220A>C (p.Ser740=) c.8154A>C (p.Ser2718=) c.896-29662A>C c.2985A>C (p.Ser995=) c.8028A>C (p.Ser2676=) n.1957A>C c.8157A>C (p.Ser2719=) | |
2 | g.73490113A>G | CA427000983 | ALMS1 | c.7773A>G (p.Ser2591=) c.1165A>G c.5225A>G c.2220A>G (p.Ser740=) c.8154A>G (p.Ser2718=) c.896-29662A>G c.2985A>G (p.Ser995=) c.8028A>G (p.Ser2676=) n.1957A>G c.8157A>G (p.Ser2719=) | ClinVar gnomAD v4 |
2 | g.73490113A>T | CA427000984 | ALMS1 | c.7773A>T (p.Ser2591=) c.1165A>T c.5225A>T c.2220A>T (p.Ser740=) c.8154A>T (p.Ser2718=) c.896-29662A>T c.2985A>T (p.Ser995=) c.8028A>T (p.Ser2676=) n.1957A>T c.8157A>T (p.Ser2719=) | |
2 | g.73490114T>A | CA347267687 | ALMS1 | c.7774T>A (p.Ser2592Thr) c.1166T>A c.5226T>A c.2221T>A (p.Ser741Thr) c.8155T>A (p.Ser2719Thr) c.896-29661T>A c.2986T>A (p.Ser996Thr) c.8029T>A (p.Ser2677Thr) n.1958T>A c.8158T>A (p.Ser2720Thr) | |
2 | g.73490114T>C | CA347267689 | ALMS1 | c.7774T>C (p.Ser2592Pro) c.1166T>C c.5226T>C c.2221T>C (p.Ser741Pro) c.8155T>C (p.Ser2719Pro) c.896-29661T>C c.2986T>C (p.Ser996Pro) c.8029T>C (p.Ser2677Pro) n.1958T>C c.8158T>C (p.Ser2720Pro) | gnomAD v4 |
2 | g.73490114T>G | CA347267690 | ALMS1 | c.7774T>G (p.Ser2592Ala) c.1166T>G c.5226T>G c.2221T>G (p.Ser741Ala) c.8155T>G (p.Ser2719Ala) c.896-29661T>G c.2986T>G (p.Ser996Ala) c.8029T>G (p.Ser2677Ala) n.1958T>G c.8158T>G (p.Ser2720Ala) | |
2 | g.73490115C>A | CA347267691 | ALMS1 | c.7775C>A (p.Ser2592Tyr) c.1167C>A c.5227C>A c.2222C>A (p.Ser741Tyr) c.8156C>A (p.Ser2719Tyr) c.896-29660C>A c.2987C>A (p.Ser996Tyr) c.8030C>A (p.Ser2677Tyr) n.1959C>A c.8159C>A (p.Ser2720Tyr) | |
2 | g.73490115C= | CA1260981500 | ALMS1 | c.7775C= (p.Ser2592=) c.1167C= c.5227C= c.2222C= (p.Ser741=) c.8156C= (p.Ser2719=) c.896-29660C= c.2987C= (p.Ser996=) c.8030C= (p.Ser2677=) n.1959C= c.8159C= (p.Ser2720=) | |
2 | g.73490115C>G | CA347267693 | ALMS1 | c.7775C>G (p.Ser2592Cys) c.1167C>G c.5227C>G c.2222C>G (p.Ser741Cys) c.8156C>G (p.Ser2719Cys) c.896-29660C>G c.2987C>G (p.Ser996Cys) c.8030C>G (p.Ser2677Cys) n.1959C>G c.8159C>G (p.Ser2720Cys) | ClinVar dbSNP gnomAD v4 |
2 | g.73490115C>T | CA347267695 | ALMS1 | c.7775C>T (p.Ser2592Phe) c.1167C>T c.5227C>T c.2222C>T (p.Ser741Phe) c.8156C>T (p.Ser2719Phe) c.896-29660C>T c.2987C>T (p.Ser996Phe) c.8030C>T (p.Ser2677Phe) n.1959C>T c.8159C>T (p.Ser2720Phe) | gnomAD v4 |
2 | g.73490116T>A | CA427000991 | ALMS1 | c.7776T>A (p.Ser2592=) c.1168T>A c.5228T>A c.2223T>A (p.Ser741=) c.8157T>A (p.Ser2719=) c.896-29659T>A c.2988T>A (p.Ser996=) c.8031T>A (p.Ser2677=) n.1960T>A c.8160T>A (p.Ser2720=) | |
2 | g.73490116T>C | CA427000993 | ALMS1 | c.7776T>C (p.Ser2592=) c.1168T>C c.5228T>C c.2223T>C (p.Ser741=) c.8157T>C (p.Ser2719=) c.896-29659T>C c.2988T>C (p.Ser996=) c.8031T>C (p.Ser2677=) n.1960T>C c.8160T>C (p.Ser2720=) | |
2 | g.73490116T>G | CA427000995 | ALMS1 | c.7776T>G (p.Ser2592=) c.1168T>G c.5228T>G c.2223T>G (p.Ser741=) c.8157T>G (p.Ser2719=) c.896-29659T>G c.2988T>G (p.Ser996=) c.8031T>G (p.Ser2677=) n.1960T>G c.8160T>G (p.Ser2720=) | |
2 | g.73490117C>A | CA347267696 | ALMS1 | c.7777C>A (p.His2593Asn) c.1169C>A c.5229C>A c.2224C>A (p.His742Asn) c.8158C>A (p.His2720Asn) c.896-29658C>A c.2989C>A (p.His997Asn) c.8032C>A (p.His2678Asn) n.1961C>A c.8161C>A (p.His2721Asn) | |
2 | g.73490117C>G | CA347267699 | ALMS1 | c.7777C>G (p.His2593Asp) c.1169C>G c.5229C>G c.2224C>G (p.His742Asp) c.8158C>G (p.His2720Asp) c.896-29658C>G c.2989C>G (p.His997Asp) c.8032C>G (p.His2678Asp) n.1961C>G c.8161C>G (p.His2721Asp) | |
2 | g.73490117C>T | CA347267698 | ALMS1 | c.7777C>T (p.His2593Tyr) c.1169C>T c.5229C>T c.2224C>T (p.His742Tyr) c.8158C>T (p.His2720Tyr) c.896-29658C>T c.2989C>T (p.His997Tyr) c.8032C>T (p.His2678Tyr) n.1961C>T c.8161C>T (p.His2721Tyr) | |
2 | g.73490118A>C | CA347267701 | ALMS1 | c.7778A>C (p.His2593Pro) c.1170A>C c.5230A>C c.2225A>C (p.His742Pro) c.8159A>C (p.His2720Pro) c.896-29657A>C c.2990A>C (p.His997Pro) c.8033A>C (p.His2678Pro) n.1962A>C c.8162A>C (p.His2721Pro) | |
2 | g.73490118A>G | CA347267703 | ALMS1 | c.7778A>G (p.His2593Arg) c.1170A>G c.5230A>G c.2225A>G (p.His742Arg) c.8159A>G (p.His2720Arg) c.896-29657A>G c.2990A>G (p.His997Arg) c.8033A>G (p.His2678Arg) n.1962A>G c.8162A>G (p.His2721Arg) | |
2 | g.73490118A>T | CA347267704 | ALMS1 | c.7778A>T (p.His2593Leu) c.1170A>T c.5230A>T c.2225A>T (p.His742Leu) c.8159A>T (p.His2720Leu) c.896-29657A>T c.2990A>T (p.His997Leu) c.8033A>T (p.His2678Leu) n.1962A>T c.8162A>T (p.His2721Leu) | |
2 | g.73490119C>A | CA347267706 | ALMS1 | c.7779C>A (p.His2593Gln) c.1171C>A c.5231C>A c.2226C>A (p.His742Gln) c.8160C>A (p.His2720Gln) c.896-29656C>A c.2991C>A (p.His997Gln) c.8034C>A (p.His2678Gln) n.1963C>A c.8163C>A (p.His2721Gln) | |
2 | g.73490119C= | CA1260981501 | ALMS1 | c.7779C= (p.His2593=) c.1171C= c.5231C= c.2226C= (p.His742=) c.8160C= (p.His2720=) c.896-29656C= c.2991C= (p.His997=) c.8034C= (p.His2678=) n.1963C= c.8163C= (p.His2721=) | |
2 | g.73490119C>G | CA347267707 | ALMS1 | c.7779C>G (p.His2593Gln) c.1171C>G c.5231C>G c.2226C>G (p.His742Gln) c.8160C>G (p.His2720Gln) c.896-29656C>G c.2991C>G (p.His997Gln) c.8034C>G (p.His2678Gln) n.1963C>G c.8163C>G (p.His2721Gln) | |
2 | g.73490119C>T | CA50378141 | ALMS1 | c.7779C>T (p.His2593=) c.1171C>T c.5231C>T c.2226C>T (p.His742=) c.8160C>T (p.His2720=) c.896-29656C>T c.2991C>T (p.His997=) c.8034C>T (p.His2678=) n.1963C>T c.8163C>T (p.His2721=) | ClinVar dbSNP gnomAD v4 |
2 | g.73490120C>A | CA427001008 | ALMS1 | c.7780C>A (p.Arg2594=) c.1172C>A c.5232C>A c.2227C>A (p.Arg743=) c.8161C>A (p.Arg2721=) c.896-29655C>A c.2992C>A (p.Arg998=) c.8035C>A (p.Arg2679=) n.1964C>A c.8164C>A (p.Arg2722=) | |
2 | g.73490120C= | CA1260981503 | ALMS1 | c.7780C= (p.Arg2594=) c.1172C= c.5232C= c.2227C= (p.Arg743=) c.8161C= (p.Arg2721=) c.896-29655C= c.2992C= (p.Arg998=) c.8035C= (p.Arg2679=) n.1964C= c.8164C= (p.Arg2722=) | |
2 | g.73490120C>G | CA347267708 | ALMS1 | c.7780C>G (p.Arg2594Gly) c.1172C>G c.5232C>G c.2227C>G (p.Arg743Gly) c.8161C>G (p.Arg2721Gly) c.896-29655C>G c.2992C>G (p.Arg998Gly) c.8035C>G (p.Arg2679Gly) n.1964C>G c.8164C>G (p.Arg2722Gly) | |
2 | g.73490120C>T | CA252958 | ALMS1 | c.7780C>T (p.Arg2594Ter) c.1172C>T c.5232C>T c.2227C>T (p.Arg743Ter) c.8161C>T (p.Arg2721Ter) c.896-29655C>T c.2992C>T (p.Arg998Ter) c.8035C>T (p.Arg2679Ter) n.1964C>T c.8164C>T (p.Arg2722Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490121G>A | CA1714415 | ALMS1 | c.7781G>A (p.Arg2594Gln) c.1173G>A c.5233G>A c.2228G>A (p.Arg743Gln) c.8162G>A (p.Arg2721Gln) c.896-29654G>A c.2993G>A (p.Arg998Gln) c.8036G>A (p.Arg2679Gln) n.1965G>A c.8165G>A (p.Arg2722Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490121G>C | CA347267711 | ALMS1 | c.7781G>C (p.Arg2594Pro) c.1173G>C c.5233G>C c.2228G>C (p.Arg743Pro) c.8162G>C (p.Arg2721Pro) c.896-29654G>C c.2993G>C (p.Arg998Pro) c.8036G>C (p.Arg2679Pro) n.1965G>C c.8165G>C (p.Arg2722Pro) | |
2 | g.73490121G= | CA1260981511 | ALMS1 | c.7781G= (p.Arg2594=) c.1173G= c.5233G= c.2228G= (p.Arg743=) c.8162G= (p.Arg2721=) c.896-29654G= c.2993G= (p.Arg998=) c.8036G= (p.Arg2679=) n.1965G= c.8165G= (p.Arg2722=) | |
2 | g.73490121G>T | CA347267713 | ALMS1 | c.7781G>T (p.Arg2594Leu) c.1173G>T c.5233G>T c.2228G>T (p.Arg743Leu) c.8162G>T (p.Arg2721Leu) c.896-29654G>T c.2993G>T (p.Arg998Leu) c.8036G>T (p.Arg2679Leu) n.1965G>T c.8165G>T (p.Arg2722Leu) | gnomAD v4 |
2 | g.73490122A= | CA1260981514 | ALMS1 | c.7782A= (p.Arg2594=) c.1174A= c.5234A= c.2229A= (p.Arg743=) c.8163A= (p.Arg2721=) c.896-29653A= c.2994A= (p.Arg998=) c.8037A= (p.Arg2679=) n.1966A= c.8166A= (p.Arg2722=) | |
2 | g.73490122A>C | CA427001012 | ALMS1 | c.7782A>C (p.Arg2594=) c.1174A>C c.5234A>C c.2229A>C (p.Arg743=) c.8163A>C (p.Arg2721=) c.896-29653A>C c.2994A>C (p.Arg998=) c.8037A>C (p.Arg2679=) n.1966A>C c.8166A>C (p.Arg2722=) | |
2 | g.73490122A>G | CA1714416 | ALMS1 | c.7782A>G (p.Arg2594=) c.1174A>G c.5234A>G c.2229A>G (p.Arg743=) c.8163A>G (p.Arg2721=) c.896-29653A>G c.2994A>G (p.Arg998=) c.8037A>G (p.Arg2679=) n.1966A>G c.8166A>G (p.Arg2722=) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.73490122A>T | CA427001015 | ALMS1 | c.7782A>T (p.Arg2594=) c.1174A>T c.5234A>T c.2229A>T (p.Arg743=) c.8163A>T (p.Arg2721=) c.896-29653A>T c.2994A>T (p.Arg998=) c.8037A>T (p.Arg2679=) n.1966A>T c.8166A>T (p.Arg2722=) | |
2 | g.73490123C>A | CA347267717 | ALMS1 | c.7783C>A (p.His2595Asn) c.1175C>A c.5235C>A c.2230C>A (p.His744Asn) c.8164C>A (p.His2722Asn) c.896-29652C>A c.2995C>A (p.His999Asn) c.8038C>A (p.His2680Asn) n.1967C>A c.8167C>A (p.His2723Asn) | |
2 | g.73490123C>G | CA347267718 | ALMS1 | c.7783C>G (p.His2595Asp) c.1175C>G c.5235C>G c.2230C>G (p.His744Asp) c.8164C>G (p.His2722Asp) c.896-29652C>G c.2995C>G (p.His999Asp) c.8038C>G (p.His2680Asp) n.1967C>G c.8167C>G (p.His2723Asp) | |
2 | g.73490123C>T | CA347267716 | ALMS1 | c.7783C>T (p.His2595Tyr) c.1175C>T c.5235C>T c.2230C>T (p.His744Tyr) c.8164C>T (p.His2722Tyr) c.896-29652C>T c.2995C>T (p.His999Tyr) c.8038C>T (p.His2680Tyr) n.1967C>T c.8167C>T (p.His2723Tyr) | |
2 | g.73490124A>C | CA347267721 | ALMS1 | c.7784A>C (p.His2595Pro) c.1176A>C c.5236A>C c.2231A>C (p.His744Pro) c.8165A>C (p.His2722Pro) c.896-29651A>C c.2996A>C (p.His999Pro) c.8039A>C (p.His2680Pro) n.1968A>C c.8168A>C (p.His2723Pro) | |
2 | g.73490124A>G | CA347267724 | ALMS1 | c.7784A>G (p.His2595Arg) c.1176A>G c.5236A>G c.2231A>G (p.His744Arg) c.8165A>G (p.His2722Arg) c.896-29651A>G c.2996A>G (p.His999Arg) c.8039A>G (p.His2680Arg) n.1968A>G c.8168A>G (p.His2723Arg) | gnomAD v4 |
2 | g.73490124A>T | CA347267722 | ALMS1 | c.7784A>T (p.His2595Leu) c.1176A>T c.5236A>T c.2231A>T (p.His744Leu) c.8165A>T (p.His2722Leu) c.896-29651A>T c.2996A>T (p.His999Leu) c.8039A>T (p.His2680Leu) n.1968A>T c.8168A>T (p.His2723Leu) | |
2 | g.73490125T>A | CA347267725 | ALMS1 | c.7785T>A (p.His2595Gln) c.1177T>A c.5237T>A c.2232T>A (p.His744Gln) c.8166T>A (p.His2722Gln) c.896-29650T>A c.2997T>A (p.His999Gln) c.8040T>A (p.His2680Gln) n.1969T>A c.8169T>A (p.His2723Gln) | |
2 | g.73490125T>C | CA427001022 | ALMS1 | c.7785T>C (p.His2595=) c.1177T>C c.5237T>C c.2232T>C (p.His744=) c.8166T>C (p.His2722=) c.896-29650T>C c.2997T>C (p.His999=) c.8040T>C (p.His2680=) n.1969T>C c.8169T>C (p.His2723=) | |
2 | g.73490125T>G | CA347267726 | ALMS1 | c.7785T>G (p.His2595Gln) c.1177T>G c.5237T>G c.2232T>G (p.His744Gln) c.8166T>G (p.His2722Gln) c.896-29650T>G c.2997T>G (p.His999Gln) c.8040T>G (p.His2680Gln) n.1969T>G c.8169T>G (p.His2723Gln) | |
2 | g.73490126T>A | CA347267728 | ALMS1 | c.7786T>A (p.Ser2596Thr) c.1178T>A c.5238T>A c.2233T>A (p.Ser745Thr) c.8167T>A (p.Ser2723Thr) c.896-29649T>A c.2998T>A (p.Ser1000Thr) c.8041T>A (p.Ser2681Thr) n.1970T>A c.8170T>A (p.Ser2724Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490126T>C | CA347267730 | ALMS1 | c.7786T>C (p.Ser2596Pro) c.1178T>C c.5238T>C c.2233T>C (p.Ser745Pro) c.8167T>C (p.Ser2723Pro) c.896-29649T>C c.2998T>C (p.Ser1000Pro) c.8041T>C (p.Ser2681Pro) n.1970T>C c.8170T>C (p.Ser2724Pro) | |
2 | g.73490126T>G | CA347267731 | ALMS1 | c.7786T>G (p.Ser2596Ala) c.1178T>G c.5238T>G c.2233T>G (p.Ser745Ala) c.8167T>G (p.Ser2723Ala) c.896-29649T>G c.2998T>G (p.Ser1000Ala) c.8041T>G (p.Ser2681Ala) n.1970T>G c.8170T>G (p.Ser2724Ala) | gnomAD v4 |
2 | g.73490126T= | CA1260981518 | ALMS1 | c.7786T= (p.Ser2596=) c.1178T= c.5238T= c.2233T= (p.Ser745=) c.8167T= (p.Ser2723=) c.896-29649T= c.2998T= (p.Ser1000=) c.8041T= (p.Ser2681=) n.1970T= c.8170T= (p.Ser2724=) | |
2 | g.73490127C>A | CA1714417 | ALMS1 | c.7787C>A (p.Ser2596Tyr) c.1179C>A c.5239C>A c.2234C>A (p.Ser745Tyr) c.8168C>A (p.Ser2723Tyr) c.896-29648C>A c.2999C>A (p.Ser1000Tyr) c.8042C>A (p.Ser2681Tyr) n.1971C>A c.8171C>A (p.Ser2724Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490127C= | CA1260981521 | ALMS1 | c.7787C= (p.Ser2596=) c.1179C= c.5239C= c.2234C= (p.Ser745=) c.8168C= (p.Ser2723=) c.896-29648C= c.2999C= (p.Ser1000=) c.8042C= (p.Ser2681=) n.1971C= c.8171C= (p.Ser2724=) | |
2 | g.73490127C>G | CA347267732 | ALMS1 | c.7787C>G (p.Ser2596Cys) c.1179C>G c.5239C>G c.2234C>G (p.Ser745Cys) c.8168C>G (p.Ser2723Cys) c.896-29648C>G c.2999C>G (p.Ser1000Cys) c.8042C>G (p.Ser2681Cys) n.1971C>G c.8171C>G (p.Ser2724Cys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490127C>T | CA347267733 | ALMS1 | c.7787C>T (p.Ser2596Phe) c.1179C>T c.5239C>T c.2234C>T (p.Ser745Phe) c.8168C>T (p.Ser2723Phe) c.896-29648C>T c.2999C>T (p.Ser1000Phe) c.8042C>T (p.Ser2681Phe) n.1971C>T c.8171C>T (p.Ser2724Phe) | |
2 | g.73490128T>A | CA427001031 | ALMS1 | c.7788T>A (p.Ser2596=) c.1180T>A c.5240T>A c.2235T>A (p.Ser745=) c.8169T>A (p.Ser2723=) c.896-29647T>A c.3000T>A (p.Ser1000=) c.8043T>A (p.Ser2681=) n.1972T>A c.8172T>A (p.Ser2724=) | |
2 | g.73490128T>C | CA427001032 | ALMS1 | c.7788T>C (p.Ser2596=) c.1180T>C c.5240T>C c.2235T>C (p.Ser745=) c.8169T>C (p.Ser2723=) c.896-29647T>C c.3000T>C (p.Ser1000=) c.8043T>C (p.Ser2681=) n.1972T>C c.8172T>C (p.Ser2724=) | |
2 | g.73490128T>G | CA427001034 | ALMS1 | c.7788T>G (p.Ser2596=) c.1180T>G c.5240T>G c.2235T>G (p.Ser745=) c.8169T>G (p.Ser2723=) c.896-29647T>G c.3000T>G (p.Ser1000=) c.8043T>G (p.Ser2681=) n.1972T>G c.8172T>G (p.Ser2724=) | |
2 | g.73490129A= | CA1260981531 | ALMS1 | c.7789A= (p.Lys2597=) c.1181A= c.5241A= c.2236A= (p.Lys746=) c.8170A= (p.Lys2724=) c.896-29646A= c.3001A= (p.Lys1001=) c.8044A= (p.Lys2682=) n.1973A= c.8173A= (p.Lys2725=) | |
2 | g.73490129A>C | CA347267735 | ALMS1 | c.7789A>C (p.Lys2597Gln) c.1181A>C c.5241A>C c.2236A>C (p.Lys746Gln) c.8170A>C (p.Lys2724Gln) c.896-29646A>C c.3001A>C (p.Lys1001Gln) c.8044A>C (p.Lys2682Gln) n.1973A>C c.8173A>C (p.Lys2725Gln) | |
2 | g.73490129A>G | CA1714418 | ALMS1 | c.7789A>G (p.Lys2597Glu) c.1181A>G c.5241A>G c.2236A>G (p.Lys746Glu) c.8170A>G (p.Lys2724Glu) c.896-29646A>G c.3001A>G (p.Lys1001Glu) c.8044A>G (p.Lys2682Glu) n.1973A>G c.8173A>G (p.Lys2725Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490129A>T | CA347267736 | ALMS1 | c.7789A>T (p.Lys2597Ter) c.1181A>T c.5241A>T c.2236A>T (p.Lys746Ter) c.8170A>T (p.Lys2724Ter) c.896-29646A>T c.3001A>T (p.Lys1001Ter) c.8044A>T (p.Lys2682Ter) n.1973A>T c.8173A>T (p.Lys2725Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490130A>C | CA347267737 | ALMS1 | c.7790A>C (p.Lys2597Thr) c.1182A>C c.5242A>C c.2237A>C (p.Lys746Thr) c.8171A>C (p.Lys2724Thr) c.896-29645A>C c.3002A>C (p.Lys1001Thr) c.8045A>C (p.Lys2682Thr) n.1974A>C c.8174A>C (p.Lys2725Thr) | |
2 | g.73490130A>G | CA347267738 | ALMS1 | c.7790A>G (p.Lys2597Arg) c.1182A>G c.5242A>G c.2237A>G (p.Lys746Arg) c.8171A>G (p.Lys2724Arg) c.896-29645A>G c.3002A>G (p.Lys1001Arg) c.8045A>G (p.Lys2682Arg) n.1974A>G c.8174A>G (p.Lys2725Arg) | |
2 | g.73490130A>T | CA347267739 | ALMS1 | c.7790A>T (p.Lys2597Ile) c.1182A>T c.5242A>T c.2237A>T (p.Lys746Ile) c.8171A>T (p.Lys2724Ile) c.896-29645A>T c.3002A>T (p.Lys1001Ile) c.8045A>T (p.Lys2682Ile) n.1974A>T c.8174A>T (p.Lys2725Ile) | |
2 | g.73490133_73490143del | CA2573135760 | ALMS1 | c.7793_7803del (p.Cys2598PhefsTer5) c.1185_1195del c.5245_5255del c.2240_2250del (p.Cys747PhefsTer5) c.8174_8184del (p.Cys2725PhefsTer5) c.896-29642_896-29632del c.3005_3015del (p.Cys1002PhefsTer5) c.8048_8058del (p.Cys2683PhefsTer5) n.1977_1987del c.8177_8187del (p.Cys2726PhefsTer5) | ClinVar dbSNP |
2 | g.73490131A= | CA1260981536 | ALMS1 | c.7791A= (p.Lys2597=) c.1183A= c.5243A= c.2238A= (p.Lys746=) c.8172A= (p.Lys2724=) c.896-29644A= c.3003A= (p.Lys1001=) c.8046A= (p.Lys2682=) n.1975A= c.8175A= (p.Lys2725=) | |
2 | g.73490131A>C | CA347267743 | ALMS1 | c.7791A>C (p.Lys2597Asn) c.1183A>C c.5243A>C c.2238A>C (p.Lys746Asn) c.8172A>C (p.Lys2724Asn) c.896-29644A>C c.3003A>C (p.Lys1001Asn) c.8046A>C (p.Lys2682Asn) n.1975A>C c.8175A>C (p.Lys2725Asn) | |
2 | g.73490131A>G | CA427001043 | ALMS1 | c.7791A>G (p.Lys2597=) c.1183A>G c.5243A>G c.2238A>G (p.Lys746=) c.8172A>G (p.Lys2724=) c.896-29644A>G c.3003A>G (p.Lys1001=) c.8046A>G (p.Lys2682=) n.1975A>G c.8175A>G (p.Lys2725=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490131A>T | CA347267741 | ALMS1 | c.7791A>T (p.Lys2597Asn) c.1183A>T c.5243A>T c.2238A>T (p.Lys746Asn) c.8172A>T (p.Lys2724Asn) c.896-29644A>T c.3003A>T (p.Lys1001Asn) c.8046A>T (p.Lys2682Asn) n.1975A>T c.8175A>T (p.Lys2725Asn) | |
2 | g.73490132T>A | CA347267744 | ALMS1 | c.7792T>A (p.Cys2598Ser) c.1184T>A c.5244T>A c.2239T>A (p.Cys747Ser) c.8173T>A (p.Cys2725Ser) c.896-29643T>A c.3004T>A (p.Cys1002Ser) c.8047T>A (p.Cys2683Ser) n.1976T>A c.8176T>A (p.Cys2726Ser) | |
2 | g.73490132T>C | CA347267746 | ALMS1 | c.7792T>C (p.Cys2598Arg) c.1184T>C c.5244T>C c.2239T>C (p.Cys747Arg) c.8173T>C (p.Cys2725Arg) c.896-29643T>C c.3004T>C (p.Cys1002Arg) c.8047T>C (p.Cys2683Arg) n.1976T>C c.8176T>C (p.Cys2726Arg) | |
2 | g.73490132T>G | CA347267748 | ALMS1 | c.7792T>G (p.Cys2598Gly) c.1184T>G c.5244T>G c.2239T>G (p.Cys747Gly) c.8173T>G (p.Cys2725Gly) c.896-29643T>G c.3004T>G (p.Cys1002Gly) c.8047T>G (p.Cys2683Gly) n.1976T>G c.8176T>G (p.Cys2726Gly) | |
2 | g.73490133G>A | CA347267750 | ALMS1 | c.7793G>A (p.Cys2598Tyr) c.1185G>A c.5245G>A c.2240G>A (p.Cys747Tyr) c.8174G>A (p.Cys2725Tyr) c.896-29642G>A c.3005G>A (p.Cys1002Tyr) c.8048G>A (p.Cys2683Tyr) n.1977G>A c.8177G>A (p.Cys2726Tyr) | |
2 | g.73490133G>C | CA347267751 | ALMS1 | c.7793G>C (p.Cys2598Ser) c.1185G>C c.5245G>C c.2240G>C (p.Cys747Ser) c.8174G>C (p.Cys2725Ser) c.896-29642G>C c.3005G>C (p.Cys1002Ser) c.8048G>C (p.Cys2683Ser) n.1977G>C c.8177G>C (p.Cys2726Ser) | |
2 | g.73490133G>T | CA347267752 | ALMS1 | c.7793G>T (p.Cys2598Phe) c.1185G>T c.5245G>T c.2240G>T (p.Cys747Phe) c.8174G>T (p.Cys2725Phe) c.896-29642G>T c.3005G>T (p.Cys1002Phe) c.8048G>T (p.Cys2683Phe) n.1977G>T c.8177G>T (p.Cys2726Phe) | |
2 | g.73490134C>A | CA347267755 | ALMS1 | c.7794C>A (p.Cys2598Ter) c.1186C>A c.5246C>A c.2241C>A (p.Cys747Ter) c.8175C>A (p.Cys2725Ter) c.896-29641C>A c.3006C>A (p.Cys1002Ter) c.8049C>A (p.Cys2683Ter) n.1978C>A c.8178C>A (p.Cys2726Ter) | |
2 | g.73490134C= | CA1260981541 | ALMS1 | c.7794C= (p.Cys2598=) c.1186C= c.5246C= c.2241C= (p.Cys747=) c.8175C= (p.Cys2725=) c.896-29641C= c.3006C= (p.Cys1002=) c.8049C= (p.Cys2683=) n.1978C= c.8178C= (p.Cys2726=) | |
2 | g.73490134C>G | CA347267756 | ALMS1 | c.7794C>G (p.Cys2598Trp) c.1186C>G c.5246C>G c.2241C>G (p.Cys747Trp) c.8175C>G (p.Cys2725Trp) c.896-29641C>G c.3006C>G (p.Cys1002Trp) c.8049C>G (p.Cys2683Trp) n.1978C>G c.8178C>G (p.Cys2726Trp) | |
2 | g.73490134C>T | CA1714419 | ALMS1 | c.7794C>T (p.Cys2598=) c.1186C>T c.5246C>T c.2241C>T (p.Cys747=) c.8175C>T (p.Cys2725=) c.896-29641C>T c.3006C>T (p.Cys1002=) c.8049C>T (p.Cys2683=) n.1978C>T c.8178C>T (p.Cys2726=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490135A>C | CA347267758 | ALMS1 | c.7795A>C (p.Ile2599Leu) c.1187A>C c.5247A>C c.2242A>C (p.Ile748Leu) c.8176A>C (p.Ile2726Leu) c.896-29640A>C c.3007A>C (p.Ile1003Leu) c.8050A>C (p.Ile2684Leu) n.1979A>C c.8179A>C (p.Ile2727Leu) | |
2 | g.73490135A>G | CA347267760 | ALMS1 | c.7795A>G (p.Ile2599Val) c.1187A>G c.5247A>G c.2242A>G (p.Ile748Val) c.8176A>G (p.Ile2726Val) c.896-29640A>G c.3007A>G (p.Ile1003Val) c.8050A>G (p.Ile2684Val) n.1979A>G c.8179A>G (p.Ile2727Val) | |
2 | g.73490135A>T | CA347267761 | ALMS1 | c.7795A>T (p.Ile2599Phe) c.1187A>T c.5247A>T c.2242A>T (p.Ile748Phe) c.8176A>T (p.Ile2726Phe) c.896-29640A>T c.3007A>T (p.Ile1003Phe) c.8050A>T (p.Ile2684Phe) n.1979A>T c.8179A>T (p.Ile2727Phe) | |
2 | g.73490136T>A | CA347267766 | ALMS1 | c.7796T>A (p.Ile2599Asn) c.1188T>A c.5248T>A c.2243T>A (p.Ile748Asn) c.8177T>A (p.Ile2726Asn) c.896-29639T>A c.3008T>A (p.Ile1003Asn) c.8051T>A (p.Ile2684Asn) n.1980T>A c.8180T>A (p.Ile2727Asn) | |
2 | g.73490136T>C | CA347267764 | ALMS1 | c.7796T>C (p.Ile2599Thr) c.1188T>C c.5248T>C c.2243T>C (p.Ile748Thr) c.8177T>C (p.Ile2726Thr) c.896-29639T>C c.3008T>C (p.Ile1003Thr) c.8051T>C (p.Ile2684Thr) n.1980T>C c.8180T>C (p.Ile2727Thr) | |
2 | g.73490136T>G | CA347267763 | ALMS1 | c.7796T>G (p.Ile2599Ser) c.1188T>G c.5248T>G c.2243T>G (p.Ile748Ser) c.8177T>G (p.Ile2726Ser) c.896-29639T>G c.3008T>G (p.Ile1003Ser) c.8051T>G (p.Ile2684Ser) n.1980T>G c.8180T>G (p.Ile2727Ser) | |
2 | g.73490137T>A | CA427001058 | ALMS1 | c.7797T>A (p.Ile2599=) c.1189T>A c.5249T>A c.2244T>A (p.Ile748=) c.8178T>A (p.Ile2726=) c.896-29638T>A c.3009T>A (p.Ile1003=) c.8052T>A (p.Ile2684=) n.1981T>A c.8181T>A (p.Ile2727=) | |
2 | g.73490137T>C | CA1714420 | ALMS1 | c.7797T>C (p.Ile2599=) c.1189T>C c.5249T>C c.2244T>C (p.Ile748=) c.8178T>C (p.Ile2726=) c.896-29638T>C c.3009T>C (p.Ile1003=) c.8052T>C (p.Ile2684=) n.1981T>C c.8181T>C (p.Ile2727=) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.73490137T>G | CA347267768 | ALMS1 | c.7797T>G (p.Ile2599Met) c.1189T>G c.5249T>G c.2244T>G (p.Ile748Met) c.8178T>G (p.Ile2726Met) c.896-29638T>G c.3009T>G (p.Ile1003Met) c.8052T>G (p.Ile2684Met) n.1981T>G c.8181T>G (p.Ile2727Met) | |
2 | g.73490137T= | CA1260981545 | ALMS1 | c.7797T= (p.Ile2599=) c.1189T= c.5249T= c.2244T= (p.Ile748=) c.8178T= (p.Ile2726=) c.896-29638T= c.3009T= (p.Ile1003=) c.8052T= (p.Ile2684=) n.1981T= c.8181T= (p.Ile2727=) | |
2 | g.73490138T>A | CA347267770 | ALMS1 | c.7798T>A (p.Ser2600Thr) c.1190T>A c.5250T>A c.2245T>A (p.Ser749Thr) c.8179T>A (p.Ser2727Thr) c.896-29637T>A c.3010T>A (p.Ser1004Thr) c.8053T>A (p.Ser2685Thr) n.1982T>A c.8182T>A (p.Ser2728Thr) | |
2 | g.73490138T>C | CA347267771 | ALMS1 | c.7798T>C (p.Ser2600Pro) c.1190T>C c.5250T>C c.2245T>C (p.Ser749Pro) c.8179T>C (p.Ser2727Pro) c.896-29637T>C c.3010T>C (p.Ser1004Pro) c.8053T>C (p.Ser2685Pro) n.1982T>C c.8182T>C (p.Ser2728Pro) | |
2 | g.73490138T>G | CA347267772 | ALMS1 | c.7798T>G (p.Ser2600Ala) c.1190T>G c.5250T>G c.2245T>G (p.Ser749Ala) c.8179T>G (p.Ser2727Ala) c.896-29637T>G c.3010T>G (p.Ser1004Ala) c.8053T>G (p.Ser2685Ala) n.1982T>G c.8182T>G (p.Ser2728Ala) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490138T= | CA1260981548 | ALMS1 | c.7798T= (p.Ser2600=) c.1190T= c.5250T= c.2245T= (p.Ser749=) c.8179T= (p.Ser2727=) c.896-29637T= c.3010T= (p.Ser1004=) c.8053T= (p.Ser2685=) n.1982T= c.8182T= (p.Ser2728=) | |
2 | g.73490139C>A | CA347267774 | ALMS1 | c.7799C>A (p.Ser2600Tyr) c.1191C>A c.5251C>A c.2246C>A (p.Ser749Tyr) c.8180C>A (p.Ser2727Tyr) c.896-29636C>A c.3011C>A (p.Ser1004Tyr) c.8054C>A (p.Ser2685Tyr) n.1983C>A c.8183C>A (p.Ser2728Tyr) | |
2 | g.73490139C= | CA1260981551 | ALMS1 | c.7799C= (p.Ser2600=) c.1191C= c.5251C= c.2246C= (p.Ser749=) c.8180C= (p.Ser2727=) c.896-29636C= c.3011C= (p.Ser1004=) c.8054C= (p.Ser2685=) n.1983C= c.8183C= (p.Ser2728=) | |
2 | g.73490139C>G | CA347267776 | ALMS1 | c.7799C>G (p.Ser2600Cys) c.1191C>G c.5251C>G c.2246C>G (p.Ser749Cys) c.8180C>G (p.Ser2727Cys) c.896-29636C>G c.3011C>G (p.Ser1004Cys) c.8054C>G (p.Ser2685Cys) n.1983C>G c.8183C>G (p.Ser2728Cys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490139C>T | CA347267778 | ALMS1 | c.7799C>T (p.Ser2600Phe) c.1191C>T c.5251C>T c.2246C>T (p.Ser749Phe) c.8180C>T (p.Ser2727Phe) c.896-29636C>T c.3011C>T (p.Ser1004Phe) c.8054C>T (p.Ser2685Phe) n.1983C>T c.8183C>T (p.Ser2728Phe) | |
2 | g.73490140C>A | CA427001065 | ALMS1 | c.7800C>A (p.Ser2600=) c.1192C>A c.5252C>A c.2247C>A (p.Ser749=) c.8181C>A (p.Ser2727=) c.896-29635C>A c.3012C>A (p.Ser1004=) c.8055C>A (p.Ser2685=) n.1984C>A c.8184C>A (p.Ser2728=) | gnomAD v4 |
2 | g.73490140C= | CA1260981553 | ALMS1 | c.7800C= (p.Ser2600=) c.1192C= c.5252C= c.2247C= (p.Ser749=) c.8181C= (p.Ser2727=) c.896-29635C= c.3012C= (p.Ser1004=) c.8055C= (p.Ser2685=) n.1984C= c.8184C= (p.Ser2728=) | |
2 | g.73490140C>G | CA1714421 | ALMS1 | c.7800C>G (p.Ser2600=) c.1192C>G c.5252C>G c.2247C>G (p.Ser749=) c.8181C>G (p.Ser2727=) c.896-29635C>G c.3012C>G (p.Ser1004=) c.8055C>G (p.Ser2685=) n.1984C>G c.8184C>G (p.Ser2728=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490140C>T | CA427001068 | ALMS1 | c.7800C>T (p.Ser2600=) c.1192C>T c.5252C>T c.2247C>T (p.Ser749=) c.8181C>T (p.Ser2727=) c.896-29635C>T c.3012C>T (p.Ser1004=) c.8055C>T (p.Ser2685=) n.1984C>T c.8184C>T (p.Ser2728=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490141A>C | CA347267780 | ALMS1 | c.7801A>C (p.Asn2601His) c.1193A>C c.5253A>C c.2248A>C (p.Asn750His) c.8182A>C (p.Asn2728His) c.896-29634A>C c.3013A>C (p.Asn1005His) c.8056A>C (p.Asn2686His) n.1985A>C c.8185A>C (p.Asn2729His) | ClinVar |
2 | g.73490141A>G | CA347267781 | ALMS1 | c.7801A>G (p.Asn2601Asp) c.1193A>G c.5253A>G c.2248A>G (p.Asn750Asp) c.8182A>G (p.Asn2728Asp) c.896-29634A>G c.3013A>G (p.Asn1005Asp) c.8056A>G (p.Asn2686Asp) n.1985A>G c.8185A>G (p.Asn2729Asp) | |
2 | g.73490141A>T | CA347267783 | ALMS1 | c.7801A>T (p.Asn2601Tyr) c.1193A>T c.5253A>T c.2248A>T (p.Asn750Tyr) c.8182A>T (p.Asn2728Tyr) c.896-29634A>T c.3013A>T (p.Asn1005Tyr) c.8056A>T (p.Asn2686Tyr) n.1985A>T c.8185A>T (p.Asn2729Tyr) | |
2 | g.73490142A= | CA1260981556 | ALMS1 | c.7802A= (p.Asn2601=) c.1194A= c.5254A= c.2249A= (p.Asn750=) c.8183A= (p.Asn2728=) c.896-29633A= c.3014A= (p.Asn1005=) c.8057A= (p.Asn2686=) n.1986A= c.8186A= (p.Asn2729=) | |
2 | g.73490142A>C | CA347267786 | ALMS1 | c.7802A>C (p.Asn2601Thr) c.1194A>C c.5254A>C c.2249A>C (p.Asn750Thr) c.8183A>C (p.Asn2728Thr) c.896-29633A>C c.3014A>C (p.Asn1005Thr) c.8057A>C (p.Asn2686Thr) n.1986A>C c.8186A>C (p.Asn2729Thr) | |
2 | g.73490142A>G | CA347267784 | ALMS1 | c.7802A>G (p.Asn2601Ser) c.1194A>G c.5254A>G c.2249A>G (p.Asn750Ser) c.8183A>G (p.Asn2728Ser) c.896-29633A>G c.3014A>G (p.Asn1005Ser) c.8057A>G (p.Asn2686Ser) n.1986A>G c.8186A>G (p.Asn2729Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490142A>T | CA50378194 | ALMS1 | c.7802A>T (p.Asn2601Ile) c.1194A>T c.5254A>T c.2249A>T (p.Asn750Ile) c.8183A>T (p.Asn2728Ile) c.896-29633A>T c.3014A>T (p.Asn1005Ile) c.8057A>T (p.Asn2686Ile) n.1986A>T c.8186A>T (p.Asn2729Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490143T>A | CA347267787 | ALMS1 | c.7803T>A (p.Asn2601Lys) c.1195T>A c.5255T>A c.2250T>A (p.Asn750Lys) c.8184T>A (p.Asn2728Lys) c.896-29632T>A c.3015T>A (p.Asn1005Lys) c.8058T>A (p.Asn2686Lys) n.1987T>A c.8187T>A (p.Asn2729Lys) | |
2 | g.73490143T>C | CA427001075 | ALMS1 | c.7803T>C (p.Asn2601=) c.1195T>C c.5255T>C c.2250T>C (p.Asn750=) c.8184T>C (p.Asn2728=) c.896-29632T>C c.3015T>C (p.Asn1005=) c.8058T>C (p.Asn2686=) n.1987T>C c.8187T>C (p.Asn2729=) | gnomAD v4 |
2 | g.73490143T>G | CA347267789 | ALMS1 | c.7803T>G (p.Asn2601Lys) c.1195T>G c.5255T>G c.2250T>G (p.Asn750Lys) c.8184T>G (p.Asn2728Lys) c.896-29632T>G c.3015T>G (p.Asn1005Lys) c.8058T>G (p.Asn2686Lys) n.1987T>G c.8187T>G (p.Asn2729Lys) | |
2 | g.73490144T>A | CA347267790 | ALMS1 | c.7804T>A (p.Ser2602Thr) c.1196T>A c.5256T>A c.2251T>A (p.Ser751Thr) c.8185T>A (p.Ser2729Thr) c.896-29631T>A c.3016T>A (p.Ser1006Thr) c.8059T>A (p.Ser2687Thr) n.1988T>A c.8188T>A (p.Ser2730Thr) | |
2 | g.73490144T>C | CA347267791 | ALMS1 | c.7804T>C (p.Ser2602Pro) c.1196T>C c.5256T>C c.2251T>C (p.Ser751Pro) c.8185T>C (p.Ser2729Pro) c.896-29631T>C c.3016T>C (p.Ser1006Pro) c.8059T>C (p.Ser2687Pro) n.1988T>C c.8188T>C (p.Ser2730Pro) | |
2 | g.73490144T>G | CA347267792 | ALMS1 | c.7804T>G (p.Ser2602Ala) c.1196T>G c.5256T>G c.2251T>G (p.Ser751Ala) c.8185T>G (p.Ser2729Ala) c.896-29631T>G c.3016T>G (p.Ser1006Ala) c.8059T>G (p.Ser2687Ala) n.1988T>G c.8188T>G (p.Ser2730Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490144T= | CA1260981562 | ALMS1 | c.7804T= (p.Ser2602=) c.1196T= c.5256T= c.2251T= (p.Ser751=) c.8185T= (p.Ser2729=) c.896-29631T= c.3016T= (p.Ser1006=) c.8059T= (p.Ser2687=) n.1988T= c.8188T= (p.Ser2730=) | |
2 | g.73490145C>A | CA1714422 | ALMS1 | c.7805C>A (p.Ser2602Tyr) c.1197C>A c.5257C>A c.2252C>A (p.Ser751Tyr) c.8186C>A (p.Ser2729Tyr) c.896-29630C>A c.3017C>A (p.Ser1006Tyr) c.8060C>A (p.Ser2687Tyr) n.1989C>A c.8189C>A (p.Ser2730Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490145C= | CA1260981566 | ALMS1 | c.7805C= (p.Ser2602=) c.1197C= c.5257C= c.2252C= (p.Ser751=) c.8186C= (p.Ser2729=) c.896-29630C= c.3017C= (p.Ser1006=) c.8060C= (p.Ser2687=) n.1989C= c.8189C= (p.Ser2730=) | |
2 | g.73490145C>G | CA347267795 | ALMS1 | c.7805C>G (p.Ser2602Cys) c.1197C>G c.5257C>G c.2252C>G (p.Ser751Cys) c.8186C>G (p.Ser2729Cys) c.896-29630C>G c.3017C>G (p.Ser1006Cys) c.8060C>G (p.Ser2687Cys) n.1989C>G c.8189C>G (p.Ser2730Cys) | |
2 | g.73490145C>T | CA347267797 | ALMS1 | c.7805C>T (p.Ser2602Phe) c.1197C>T c.5257C>T c.2252C>T (p.Ser751Phe) c.8186C>T (p.Ser2729Phe) c.896-29630C>T c.3017C>T (p.Ser1006Phe) c.8060C>T (p.Ser2687Phe) n.1989C>T c.8189C>T (p.Ser2730Phe) | gnomAD v4 |
2 | g.73490146C>A | CA427001086 | ALMS1 | c.7806C>A (p.Ser2602=) c.1198C>A c.5258C>A c.2253C>A (p.Ser751=) c.8187C>A (p.Ser2729=) c.896-29629C>A c.3018C>A (p.Ser1006=) c.8061C>A (p.Ser2687=) n.1990C>A c.8190C>A (p.Ser2730=) | |
2 | g.73490146C= | CA1260981571 | ALMS1 | c.7806C= (p.Ser2602=) c.1198C= c.5258C= c.2253C= (p.Ser751=) c.8187C= (p.Ser2729=) c.896-29629C= c.3018C= (p.Ser1006=) c.8061C= (p.Ser2687=) n.1990C= c.8190C= (p.Ser2730=) | |
2 | g.73490146C>G | CA427001085 | ALMS1 | c.7806C>G (p.Ser2602=) c.1198C>G c.5258C>G c.2253C>G (p.Ser751=) c.8187C>G (p.Ser2729=) c.896-29629C>G c.3018C>G (p.Ser1006=) c.8061C>G (p.Ser2687=) n.1990C>G c.8190C>G (p.Ser2730=) | |
2 | g.73490146C>T | CA427001084 | ALMS1 | c.7806C>T (p.Ser2602=) c.1198C>T c.5258C>T c.2253C>T (p.Ser751=) c.8187C>T (p.Ser2729=) c.896-29629C>T c.3018C>T (p.Ser1006=) c.8061C>T (p.Ser2687=) n.1990C>T c.8190C>T (p.Ser2730=) | dbSNP |
2 | g.73490147T>A | CA347267798 | ALMS1 | c.7807T>A (p.Ser2603Thr) c.1199T>A c.5259T>A c.2254T>A (p.Ser752Thr) c.8188T>A (p.Ser2730Thr) c.896-29628T>A c.3019T>A (p.Ser1007Thr) c.8062T>A (p.Ser2688Thr) n.1991T>A c.8191T>A (p.Ser2731Thr) | |
2 | g.73490147T>C | CA347267799 | ALMS1 | c.7807T>C (p.Ser2603Pro) c.1199T>C c.5259T>C c.2254T>C (p.Ser752Pro) c.8188T>C (p.Ser2730Pro) c.896-29628T>C c.3019T>C (p.Ser1007Pro) c.8062T>C (p.Ser2688Pro) n.1991T>C c.8191T>C (p.Ser2731Pro) | |
2 | g.73490147T>G | CA347267801 | ALMS1 | c.7807T>G (p.Ser2603Ala) c.1199T>G c.5259T>G c.2254T>G (p.Ser752Ala) c.8188T>G (p.Ser2730Ala) c.896-29628T>G c.3019T>G (p.Ser1007Ala) c.8062T>G (p.Ser2688Ala) n.1991T>G c.8191T>G (p.Ser2731Ala) | |
2 | g.73490148C>A | CA347267804 | ALMS1 | c.7808C>A (p.Ser2603Tyr) c.1200C>A c.5260C>A c.2255C>A (p.Ser752Tyr) c.8189C>A (p.Ser2730Tyr) c.896-29627C>A c.3020C>A (p.Ser1007Tyr) c.8063C>A (p.Ser2688Tyr) n.1992C>A c.8192C>A (p.Ser2731Tyr) | |
2 | g.73490148C>G | CA347267803 | ALMS1 | c.7808C>G (p.Ser2603Cys) c.1200C>G c.5260C>G c.2255C>G (p.Ser752Cys) c.8189C>G (p.Ser2730Cys) c.896-29627C>G c.3020C>G (p.Ser1007Cys) c.8063C>G (p.Ser2688Cys) n.1992C>G c.8192C>G (p.Ser2731Cys) | gnomAD v4 |
2 | g.73490148C>T | CA347267802 | ALMS1 | c.7808C>T (p.Ser2603Phe) c.1200C>T c.5260C>T c.2255C>T (p.Ser752Phe) c.8189C>T (p.Ser2730Phe) c.896-29627C>T c.3020C>T (p.Ser1007Phe) c.8063C>T (p.Ser2688Phe) n.1992C>T c.8192C>T (p.Ser2731Phe) | |
2 | g.73490149T>A | CA427001094 | ALMS1 | c.7809T>A (p.Ser2603=) c.1201T>A c.5261T>A c.2256T>A (p.Ser752=) c.8190T>A (p.Ser2730=) c.896-29626T>A c.3021T>A (p.Ser1007=) c.8064T>A (p.Ser2688=) n.1993T>A c.8193T>A (p.Ser2731=) | |
2 | g.73490149T>C | CA427001096 | ALMS1 | c.7809T>C (p.Ser2603=) c.1201T>C c.5261T>C c.2256T>C (p.Ser752=) c.8190T>C (p.Ser2730=) c.896-29626T>C c.3021T>C (p.Ser1007=) c.8064T>C (p.Ser2688=) n.1993T>C c.8193T>C (p.Ser2731=) | |
2 | g.73490149T>G | CA427001097 | ALMS1 | c.7809T>G (p.Ser2603=) c.1201T>G c.5261T>G c.2256T>G (p.Ser752=) c.8190T>G (p.Ser2730=) c.896-29626T>G c.3021T>G (p.Ser1007=) c.8064T>G (p.Ser2688=) n.1993T>G c.8193T>G (p.Ser2731=) | |
2 | g.73490150G>A | CA347267806 | ALMS1 | c.7810G>A (p.Val2604Ile) c.1202G>A c.5262G>A c.2257G>A (p.Val753Ile) c.8191G>A (p.Val2731Ile) c.896-29625G>A c.3022G>A (p.Val1008Ile) c.8065G>A (p.Val2689Ile) n.1994G>A c.8194G>A (p.Val2732Ile) | dbSNP gnomAD v4 |
2 | g.73490150G>C | CA347267809 | ALMS1 | c.7810G>C (p.Val2604Leu) c.1202G>C c.5262G>C c.2257G>C (p.Val753Leu) c.8191G>C (p.Val2731Leu) c.896-29625G>C c.3022G>C (p.Val1008Leu) c.8065G>C (p.Val2689Leu) n.1994G>C c.8194G>C (p.Val2732Leu) | |
2 | g.73490150G= | CA1260981575 | ALMS1 | c.7810G= (p.Val2604=) c.1202G= c.5262G= c.2257G= (p.Val753=) c.8191G= (p.Val2731=) c.896-29625G= c.3022G= (p.Val1008=) c.8065G= (p.Val2689=) n.1994G= c.8194G= (p.Val2732=) | |
2 | g.73490150G>T | CA347267807 | ALMS1 | c.7810G>T (p.Val2604Phe) c.1202G>T c.5262G>T c.2257G>T (p.Val753Phe) c.8191G>T (p.Val2731Phe) c.896-29625G>T c.3022G>T (p.Val1008Phe) c.8065G>T (p.Val2689Phe) n.1994G>T c.8194G>T (p.Val2732Phe) | |
2 | g.73490151T>A | CA347267810 | ALMS1 | c.7811T>A (p.Val2604Asp) c.1203T>A c.5263T>A c.2258T>A (p.Val753Asp) c.8192T>A (p.Val2731Asp) c.896-29624T>A c.3023T>A (p.Val1008Asp) c.8066T>A (p.Val2689Asp) n.1995T>A c.8195T>A (p.Val2732Asp) | |
2 | g.73490151T>C | CA347267812 | ALMS1 | c.7811T>C (p.Val2604Ala) c.1203T>C c.5263T>C c.2258T>C (p.Val753Ala) c.8192T>C (p.Val2731Ala) c.896-29624T>C c.3023T>C (p.Val1008Ala) c.8066T>C (p.Val2689Ala) n.1995T>C c.8195T>C (p.Val2732Ala) | |
2 | g.73490151T>G | CA347267813 | ALMS1 | c.7811T>G (p.Val2604Gly) c.1203T>G c.5263T>G c.2258T>G (p.Val753Gly) c.8192T>G (p.Val2731Gly) c.896-29624T>G c.3023T>G (p.Val1008Gly) c.8066T>G (p.Val2689Gly) n.1995T>G c.8195T>G (p.Val2732Gly) | |
2 | g.73490152T>A | CA427001099 | ALMS1 | c.7812T>A (p.Val2604=) c.1204T>A c.5264T>A c.2259T>A (p.Val753=) c.8193T>A (p.Val2731=) c.896-29623T>A c.3024T>A (p.Val1008=) c.8067T>A (p.Val2689=) n.1996T>A c.8196T>A (p.Val2732=) | |
2 | g.73490152T>C | CA427001100 | ALMS1 | c.7812T>C (p.Val2604=) c.1204T>C c.5264T>C c.2259T>C (p.Val753=) c.8193T>C (p.Val2731=) c.896-29623T>C c.3024T>C (p.Val1008=) c.8067T>C (p.Val2689=) n.1996T>C c.8196T>C (p.Val2732=) | |
2 | g.73490152T>G | CA427001101 | ALMS1 | c.7812T>G (p.Val2604=) c.1204T>G c.5264T>G c.2259T>G (p.Val753=) c.8193T>G (p.Val2731=) c.896-29623T>G c.3024T>G (p.Val1008=) c.8067T>G (p.Val2689=) n.1996T>G c.8196T>G (p.Val2732=) | gnomAD v4 |
2 | g.73490153G>A | CA347267814 | ALMS1 | c.7813G>A (p.Val2605Ile) c.1205G>A c.5265G>A c.2260G>A (p.Val754Ile) c.8194G>A (p.Val2732Ile) c.896-29622G>A c.3025G>A (p.Val1009Ile) c.8068G>A (p.Val2690Ile) n.1997G>A c.8197G>A (p.Val2733Ile) | |
2 | g.73490153G>C | CA347267816 | ALMS1 | c.7813G>C (p.Val2605Leu) c.1205G>C c.5265G>C c.2260G>C (p.Val754Leu) c.8194G>C (p.Val2732Leu) c.896-29622G>C c.3025G>C (p.Val1009Leu) c.8068G>C (p.Val2690Leu) n.1997G>C c.8197G>C (p.Val2733Leu) | |
2 | g.73490153G>T | CA347267818 | ALMS1 | c.7813G>T (p.Val2605Phe) c.1205G>T c.5265G>T c.2260G>T (p.Val754Phe) c.8194G>T (p.Val2732Phe) c.896-29622G>T c.3025G>T (p.Val1009Phe) c.8068G>T (p.Val2690Phe) n.1997G>T c.8197G>T (p.Val2733Phe) | |
2 | g.73490154T>A | CA347267820 | ALMS1 | c.7814T>A (p.Val2605Asp) c.1206T>A c.5266T>A c.2261T>A (p.Val754Asp) c.8195T>A (p.Val2732Asp) c.896-29621T>A c.3026T>A (p.Val1009Asp) c.8069T>A (p.Val2690Asp) n.1998T>A c.8198T>A (p.Val2733Asp) | |
2 | g.73490154T>C | CA1714423 | ALMS1 | c.7814T>C (p.Val2605Ala) c.1206T>C c.5266T>C c.2261T>C (p.Val754Ala) c.8195T>C (p.Val2732Ala) c.896-29621T>C c.3026T>C (p.Val1009Ala) c.8069T>C (p.Val2690Ala) n.1998T>C c.8198T>C (p.Val2733Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490154T>G | CA347267822 | ALMS1 | c.7814T>G (p.Val2605Gly) c.1206T>G c.5266T>G c.2261T>G (p.Val754Gly) c.8195T>G (p.Val2732Gly) c.896-29621T>G c.3026T>G (p.Val1009Gly) c.8069T>G (p.Val2690Gly) n.1998T>G c.8198T>G (p.Val2733Gly) | |
2 | g.73490154T= | CA1260981579 | ALMS1 | c.7814T= (p.Val2605=) c.1206T= c.5266T= c.2261T= (p.Val754=) c.8195T= (p.Val2732=) c.896-29621T= c.3026T= (p.Val1009=) c.8069T= (p.Val2690=) n.1998T= c.8198T= (p.Val2733=) | |
2 | g.73490155T>A | CA427001108 | ALMS1 | c.7815T>A (p.Val2605=) c.1207T>A c.5267T>A c.2262T>A (p.Val754=) c.8196T>A (p.Val2732=) c.896-29620T>A c.3027T>A (p.Val1009=) c.8070T>A (p.Val2690=) n.1999T>A c.8199T>A (p.Val2733=) | |
2 | g.73490155T>C | CA427001110 | ALMS1 | c.7815T>C (p.Val2605=) c.1207T>C c.5267T>C c.2262T>C (p.Val754=) c.8196T>C (p.Val2732=) c.896-29620T>C c.3027T>C (p.Val1009=) c.8070T>C (p.Val2690=) n.1999T>C c.8199T>C (p.Val2733=) | |
2 | g.73490155T>G | CA427001111 | ALMS1 | c.7815T>G (p.Val2605=) c.1207T>G c.5267T>G c.2262T>G (p.Val754=) c.8196T>G (p.Val2732=) c.896-29620T>G c.3027T>G (p.Val1009=) c.8070T>G (p.Val2690=) n.1999T>G c.8199T>G (p.Val2733=) | |
2 | g.73490156A= | CA1260981585 | ALMS1 | c.7816A= (p.Lys2606=) c.1208A= c.5268A= c.2263A= (p.Lys755=) c.8197A= (p.Lys2733=) c.896-29619A= c.3028A= (p.Lys1010=) c.8071A= (p.Lys2691=) n.2000A= c.8200A= (p.Lys2734=) | |
2 | g.73490156A>C | CA347267824 | ALMS1 | c.7816A>C (p.Lys2606Gln) c.1208A>C c.5268A>C c.2263A>C (p.Lys755Gln) c.8197A>C (p.Lys2733Gln) c.896-29619A>C c.3028A>C (p.Lys1010Gln) c.8071A>C (p.Lys2691Gln) n.2000A>C c.8200A>C (p.Lys2734Gln) | ClinVar dbSNP |
2 | g.73490156A>G | CA347267825 | ALMS1 | c.7816A>G (p.Lys2606Glu) c.1208A>G c.5268A>G c.2263A>G (p.Lys755Glu) c.8197A>G (p.Lys2733Glu) c.896-29619A>G c.3028A>G (p.Lys1010Glu) c.8071A>G (p.Lys2691Glu) n.2000A>G c.8200A>G (p.Lys2734Glu) | |
2 | g.73490156A>T | CA347267826 | ALMS1 | c.7816A>T (p.Lys2606Ter) c.1208A>T c.5268A>T c.2263A>T (p.Lys755Ter) c.8197A>T (p.Lys2733Ter) c.896-29619A>T c.3028A>T (p.Lys1010Ter) c.8071A>T (p.Lys2691Ter) n.2000A>T c.8200A>T (p.Lys2734Ter) | |
2 | g.73490157A= | CA1260981590 | ALMS1 | c.7817A= (p.Lys2606=) c.1209A= c.5269A= c.2264A= (p.Lys755=) c.8198A= (p.Lys2733=) c.896-29618A= c.3029A= (p.Lys1010=) c.8072A= (p.Lys2691=) n.2001A= c.8201A= (p.Lys2734=) | |
2 | g.73490157A>C | CA347267830 | ALMS1 | c.7817A>C (p.Lys2606Thr) c.1209A>C c.5269A>C c.2264A>C (p.Lys755Thr) c.8198A>C (p.Lys2733Thr) c.896-29618A>C c.3029A>C (p.Lys1010Thr) c.8072A>C (p.Lys2691Thr) n.2001A>C c.8201A>C (p.Lys2734Thr) | dbSNP |
2 | g.73490157A>G | CA347267827 | ALMS1 | c.7817A>G (p.Lys2606Arg) c.1209A>G c.5269A>G c.2264A>G (p.Lys755Arg) c.8198A>G (p.Lys2733Arg) c.896-29618A>G c.3029A>G (p.Lys1010Arg) c.8072A>G (p.Lys2691Arg) n.2001A>G c.8201A>G (p.Lys2734Arg) | |
2 | g.73490157A>T | CA347267829 | ALMS1 | c.7817A>T (p.Lys2606Met) c.1209A>T c.5269A>T c.2264A>T (p.Lys755Met) c.8198A>T (p.Lys2733Met) c.896-29618A>T c.3029A>T (p.Lys1010Met) c.8072A>T (p.Lys2691Met) n.2001A>T c.8201A>T (p.Lys2734Met) | |
2 | g.73490158G>A | CA427001117 | ALMS1 | c.7818G>A (p.Lys2606=) c.1210G>A c.5270G>A c.2265G>A (p.Lys755=) c.8199G>A (p.Lys2733=) c.896-29617G>A c.3030G>A (p.Lys1010=) c.8073G>A (p.Lys2691=) n.2002G>A c.8202G>A (p.Lys2734=) | |
2 | g.73490158G>C | CA347267831 | ALMS1 | c.7818G>C (p.Lys2606Asn) c.1210G>C c.5270G>C c.2265G>C (p.Lys755Asn) c.8199G>C (p.Lys2733Asn) c.896-29617G>C c.3030G>C (p.Lys1010Asn) c.8073G>C (p.Lys2691Asn) n.2002G>C c.8202G>C (p.Lys2734Asn) | |
2 | g.73490158G>T | CA347267832 | ALMS1 | c.7818G>T (p.Lys2606Asn) c.1210G>T c.5270G>T c.2265G>T (p.Lys755Asn) c.8199G>T (p.Lys2733Asn) c.896-29617G>T c.3030G>T (p.Lys1010Asn) c.8073G>T (p.Lys2691Asn) n.2002G>T c.8202G>T (p.Lys2734Asn) | |
2 | g.73490159G>A | CA347267834 | ALMS1 | c.7819G>A (p.Val2607Ile) c.1211G>A c.5271G>A c.2266G>A (p.Val756Ile) c.8200G>A (p.Val2734Ile) c.896-29616G>A c.3030+1G>A (n.3030+1G>A) c.8074G>A (p.Val2692Ile) n.2003G>A c.8203G>A (p.Val2735Ile) | |
2 | g.73490159G>C | CA347267835 | ALMS1 | c.7819G>C (p.Val2607Leu) c.1211G>C c.5271G>C c.2266G>C (p.Val756Leu) c.8200G>C (p.Val2734Leu) c.896-29616G>C c.3030+1G>C (n.3030+1G>C) c.8074G>C (p.Val2692Leu) n.2003G>C c.8203G>C (p.Val2735Leu) | |
2 | g.73490159G>T | CA347267836 | ALMS1 | c.7819G>T (p.Val2607Phe) c.1211G>T c.5271G>T c.2266G>T (p.Val756Phe) c.8200G>T (p.Val2734Phe) c.896-29616G>T c.3030+1G>T (n.3030+1G>T) c.8074G>T (p.Val2692Phe) n.2003G>T c.8203G>T (p.Val2735Phe) | |
2 | g.73490160T>A | CA347267838 | ALMS1 | c.7820T>A (p.Val2607Asp) c.1212T>A c.5272T>A c.2267T>A (p.Val756Asp) c.8201T>A (p.Val2734Asp) c.896-29615T>A c.3030+2T>A (n.3030+2T>A) c.8075T>A (p.Val2692Asp) n.2004T>A c.8204T>A (p.Val2735Asp) | |
2 | g.73490160T>C | CA347267840 | ALMS1 | c.7820T>C (p.Val2607Ala) c.1212T>C c.5272T>C c.2267T>C (p.Val756Ala) c.8201T>C (p.Val2734Ala) c.896-29615T>C c.3030+2T>C (n.3030+2T>C) c.8075T>C (p.Val2692Ala) n.2004T>C c.8204T>C (p.Val2735Ala) | gnomAD v4 |
2 | g.73490160T>G | CA347267842 | ALMS1 | c.7820T>G (p.Val2607Gly) c.1212T>G c.5272T>G c.2267T>G (p.Val756Gly) c.8201T>G (p.Val2734Gly) c.896-29615T>G c.3030+2T>G (n.3030+2T>G) c.8075T>G (p.Val2692Gly) n.2004T>G c.8204T>G (p.Val2735Gly) | |
2 | g.73490161T>A | CA427001125 | ALMS1 | c.7821T>A (p.Val2607=) c.1213T>A c.5273T>A c.2268T>A (p.Val756=) c.8202T>A (p.Val2734=) c.896-29614T>A c.3030+3T>A (n.3030+3T>A) c.8076T>A (p.Val2692=) n.2005T>A c.8205T>A (p.Val2735=) | |
2 | g.73490161T>C | CA427001126 | ALMS1 | c.7821T>C (p.Val2607=) c.1213T>C c.5273T>C c.2268T>C (p.Val756=) c.8202T>C (p.Val2734=) c.896-29614T>C c.3030+3T>C (n.3030+3T>C) c.8076T>C (p.Val2692=) n.2005T>C c.8205T>C (p.Val2735=) | |
2 | g.73490161T>G | CA427001128 | ALMS1 | c.7821T>G (p.Val2607=) c.1213T>G c.5273T>G c.2268T>G (p.Val756=) c.8202T>G (p.Val2734=) c.896-29614T>G c.3030+3T>G (n.3030+3T>G) c.8076T>G (p.Val2692=) n.2005T>G c.8205T>G (p.Val2735=) | |
2 | g.73490162G>A | CA1714424 | ALMS1 | c.7822G>A (p.Gly2608Ser) c.1214G>A c.5274G>A c.2269G>A (p.Gly757Ser) c.8203G>A (p.Gly2735Ser) c.896-29613G>A c.3030+4G>A (n.3030+4G>A) c.8077G>A (p.Gly2693Ser) n.2006G>A c.8206G>A (p.Gly2736Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490162G>C | CA347267843 | ALMS1 | c.7822G>C (p.Gly2608Arg) c.1214G>C c.5274G>C c.2269G>C (p.Gly757Arg) c.8203G>C (p.Gly2735Arg) c.896-29613G>C c.3030+4G>C (n.3030+4G>C) c.8077G>C (p.Gly2693Arg) n.2006G>C c.8206G>C (p.Gly2736Arg) | ClinVar dbSNP |
2 | g.73490162G= | CA1260981594 | ALMS1 | c.7822G= (p.Gly2608=) c.1214G= c.5274G= c.2269G= (p.Gly757=) c.8203G= (p.Gly2735=) c.896-29613G= c.3030+4G= (n.3030+4G=) c.8077G= (p.Gly2693=) n.2006G= c.8206G= (p.Gly2736=) | |
2 | g.73490162G>T | CA347267844 | ALMS1 | c.7822G>T (p.Gly2608Cys) c.1214G>T c.5274G>T c.2269G>T (p.Gly757Cys) c.8203G>T (p.Gly2735Cys) c.896-29613G>T c.3030+4G>T (n.3030+4G>T) c.8077G>T (p.Gly2693Cys) n.2006G>T c.8206G>T (p.Gly2736Cys) | |
2 | g.73490163G>A | CA347267850 | ALMS1 | c.7823G>A (p.Gly2608Asp) c.1215G>A c.5275G>A c.2270G>A (p.Gly757Asp) c.8204G>A (p.Gly2735Asp) c.896-29612G>A c.3030+5G>A (n.3030+5G>A) c.8078G>A (p.Gly2693Asp) n.2007G>A c.8207G>A (p.Gly2736Asp) | |
2 | g.73490163G>C | CA347267848 | ALMS1 | c.7823G>C (p.Gly2608Ala) c.1215G>C c.5275G>C c.2270G>C (p.Gly757Ala) c.8204G>C (p.Gly2735Ala) c.896-29612G>C c.3030+5G>C (n.3030+5G>C) c.8078G>C (p.Gly2693Ala) n.2007G>C c.8207G>C (p.Gly2736Ala) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490163G= | CA1260981597 | ALMS1 | c.7823G= (p.Gly2608=) c.1215G= c.5275G= c.2270G= (p.Gly757=) c.8204G= (p.Gly2735=) c.896-29612G= c.3030+5G= (n.3030+5G=) c.8078G= (p.Gly2693=) n.2007G= c.8207G= (p.Gly2736=) | |
2 | g.73490163G>T | CA347267847 | ALMS1 | c.7823G>T (p.Gly2608Val) c.1215G>T c.5275G>T c.2270G>T (p.Gly757Val) c.8204G>T (p.Gly2735Val) c.896-29612G>T c.3030+5G>T (n.3030+5G>T) c.8078G>T (p.Gly2693Val) n.2007G>T c.8207G>T (p.Gly2736Val) | |
2 | g.73490164T>A | CA427001134 | ALMS1 | c.7824T>A (p.Gly2608=) c.1216T>A c.5276T>A c.2271T>A (p.Gly757=) c.8205T>A (p.Gly2735=) c.896-29611T>A c.3030+6T>A (n.3030+6T>A) c.8079T>A (p.Gly2693=) n.2008T>A c.8208T>A (p.Gly2736=) | |
2 | g.73490164T>C | CA427001135 | ALMS1 | c.7824T>C (p.Gly2608=) c.1216T>C c.5276T>C c.2271T>C (p.Gly757=) c.8205T>C (p.Gly2735=) c.896-29611T>C c.3030+6T>C (n.3030+6T>C) c.8079T>C (p.Gly2693=) n.2008T>C c.8208T>C (p.Gly2736=) | |
2 | g.73490164T>G | CA427001137 | ALMS1 | c.7824T>G (p.Gly2608=) c.1216T>G c.5276T>G c.2271T>G (p.Gly757=) c.8205T>G (p.Gly2735=) c.896-29611T>G c.3030+6T>G (n.3030+6T>G) c.8079T>G (p.Gly2693=) n.2008T>G c.8208T>G (p.Gly2736=) | ClinVar dbSNP |
2 | g.73490165G>A | CA1714425 | ALMS1 | c.7825G>A (p.Val2609Ile) c.1217G>A c.5277G>A c.2272G>A (p.Val758Ile) c.8206G>A (p.Val2736Ile) c.896-29610G>A c.3030+7G>A (n.3030+7G>A) c.8080G>A (p.Val2694Ile) n.2009G>A c.8209G>A (p.Val2737Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490165G>C | CA347267852 | ALMS1 | c.7825G>C (p.Val2609Leu) c.1217G>C c.5277G>C c.2272G>C (p.Val758Leu) c.8206G>C (p.Val2736Leu) c.896-29610G>C c.3030+7G>C (n.3030+7G>C) c.8080G>C (p.Val2694Leu) n.2009G>C c.8209G>C (p.Val2737Leu) | |
2 | g.73490165G= | CA1260981601 | ALMS1 | c.7825G= (p.Val2609=) c.1217G= c.5277G= c.2272G= (p.Val758=) c.8206G= (p.Val2736=) c.896-29610G= c.3030+7G= (n.3030+7G=) c.8080G= (p.Val2694=) n.2009G= c.8209G= (p.Val2737=) | |
2 | g.73490165G>T | CA347267853 | ALMS1 | c.7825G>T (p.Val2609Phe) c.1217G>T c.5277G>T c.2272G>T (p.Val758Phe) c.8206G>T (p.Val2736Phe) c.896-29610G>T c.3030+7G>T (n.3030+7G>T) c.8080G>T (p.Val2694Phe) n.2009G>T c.8209G>T (p.Val2737Phe) | |
2 | g.73490166T>A | CA347267855 | ALMS1 | c.7826T>A (p.Val2609Asp) c.1218T>A c.5278T>A c.2273T>A (p.Val758Asp) c.8207T>A (p.Val2736Asp) c.896-29609T>A c.3030+8T>A (n.3030+8T>A) c.8081T>A (p.Val2694Asp) n.2010T>A c.8210T>A (p.Val2737Asp) | |
2 | g.73490166T>C | CA347267856 | ALMS1 | c.7826T>C (p.Val2609Ala) c.1218T>C c.5278T>C c.2273T>C (p.Val758Ala) c.8207T>C (p.Val2736Ala) c.896-29609T>C c.3030+8T>C (n.3030+8T>C) c.8081T>C (p.Val2694Ala) n.2010T>C c.8210T>C (p.Val2737Ala) | |
2 | g.73490166T>G | CA347267858 | ALMS1 | c.7826T>G (p.Val2609Gly) c.1218T>G c.5278T>G c.2273T>G (p.Val758Gly) c.8207T>G (p.Val2736Gly) c.896-29609T>G c.3030+8T>G (n.3030+8T>G) c.8081T>G (p.Val2694Gly) n.2010T>G c.8210T>G (p.Val2737Gly) | |
2 | g.73490167T>A | CA427001146 | ALMS1 | c.7827T>A (p.Val2609=) c.1219T>A c.5279T>A c.2274T>A (p.Val758=) c.8208T>A (p.Val2736=) c.896-29608T>A c.3030+9T>A (n.3030+9T>A) c.8082T>A (p.Val2694=) n.2011T>A c.8211T>A (p.Val2737=) | |
2 | g.73490167T>C | CA427001149 | ALMS1 | c.7827T>C (p.Val2609=) c.1219T>C c.5279T>C c.2274T>C (p.Val758=) c.8208T>C (p.Val2736=) c.896-29608T>C c.3030+9T>C (n.3030+9T>C) c.8082T>C (p.Val2694=) n.2011T>C c.8211T>C (p.Val2737=) | gnomAD v4 |
2 | g.73490167T>G | CA427001147 | ALMS1 | c.7827T>G (p.Val2609=) c.1219T>G c.5279T>G c.2274T>G (p.Val758=) c.8208T>G (p.Val2736=) c.896-29608T>G c.3030+9T>G (n.3030+9T>G) c.8082T>G (p.Val2694=) n.2011T>G c.8211T>G (p.Val2737=) | |
2 | g.73490168A>C | CA347267860 | ALMS1 | c.7828A>C (p.Thr2610Pro) c.1220A>C c.5280A>C c.2275A>C (p.Thr759Pro) c.8209A>C (p.Thr2737Pro) c.896-29607A>C c.3030+10A>C (n.3030+10A>C) c.8083A>C (p.Thr2695Pro) n.2012A>C c.8212A>C (p.Thr2738Pro) | |
2 | g.73490168A>G | CA347267861 | ALMS1 | c.7828A>G (p.Thr2610Ala) c.1220A>G c.5280A>G c.2275A>G (p.Thr759Ala) c.8209A>G (p.Thr2737Ala) c.896-29607A>G c.3030+10A>G (n.3030+10A>G) c.8083A>G (p.Thr2695Ala) n.2012A>G c.8212A>G (p.Thr2738Ala) | |
2 | g.73490168A>T | CA347267863 | ALMS1 | c.7828A>T (p.Thr2610Ser) c.1220A>T c.5280A>T c.2275A>T (p.Thr759Ser) c.8209A>T (p.Thr2737Ser) c.896-29607A>T c.3030+10A>T (n.3030+10A>T) c.8083A>T (p.Thr2695Ser) n.2012A>T c.8212A>T (p.Thr2738Ser) | |
2 | g.73490169C>A | CA347267864 | ALMS1 | c.7829C>A (p.Thr2610Asn) c.1221C>A c.5281C>A c.2276C>A (p.Thr759Asn) c.8210C>A (p.Thr2737Asn) c.896-29606C>A c.3030+11C>A (n.3030+11C>A) c.8084C>A (p.Thr2695Asn) n.2013C>A c.8213C>A (p.Thr2738Asn) | |
2 | g.73490169C= | CA1260981605 | ALMS1 | c.7829C= (p.Thr2610=) c.1221C= c.5281C= c.2276C= (p.Thr759=) c.8210C= (p.Thr2737=) c.896-29606C= c.3030+11C= (n.3030+11C=) c.8084C= (p.Thr2695=) n.2013C= c.8213C= (p.Thr2738=) | |
2 | g.73490169C>G | CA347267865 | ALMS1 | c.7829C>G (p.Thr2610Ser) c.1221C>G c.5281C>G c.2276C>G (p.Thr759Ser) c.8210C>G (p.Thr2737Ser) c.896-29606C>G c.3030+11C>G (n.3030+11C>G) c.8084C>G (p.Thr2695Ser) n.2013C>G c.8213C>G (p.Thr2738Ser) | gnomAD v4 |
2 | g.73490169C>T | CA1714426 | ALMS1 | c.7829C>T (p.Thr2610Ile) c.1221C>T c.5281C>T c.2276C>T (p.Thr759Ile) c.8210C>T (p.Thr2737Ile) c.896-29606C>T c.3030+11C>T (n.3030+11C>T) c.8084C>T (p.Thr2695Ile) n.2013C>T c.8213C>T (p.Thr2738Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490170T>A | CA427001154 | ALMS1 | c.7830T>A (p.Thr2610=) c.1222T>A c.5282T>A c.2277T>A (p.Thr759=) c.8211T>A (p.Thr2737=) c.896-29605T>A c.3030+12T>A (n.3030+12T>A) c.8085T>A (p.Thr2695=) n.2014T>A c.8214T>A (p.Thr2738=) | |
2 | g.73490170T>C | CA427001155 | ALMS1 | c.7830T>C (p.Thr2610=) c.1222T>C c.5282T>C c.2277T>C (p.Thr759=) c.8211T>C (p.Thr2737=) c.896-29605T>C c.3030+12T>C (n.3030+12T>C) c.8085T>C (p.Thr2695=) n.2014T>C c.8214T>C (p.Thr2738=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490170T>G | CA1714427 | ALMS1 | c.7830T>G (p.Thr2610=) c.1222T>G c.5282T>G c.2277T>G (p.Thr759=) c.8211T>G (p.Thr2737=) c.896-29605T>G c.3030+12T>G (n.3030+12T>G) c.8085T>G (p.Thr2695=) n.2014T>G c.8214T>G (p.Thr2738=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490170T= | CA1260981613 | ALMS1 | c.7830T= (p.Thr2610=) c.1222T= c.5282T= c.2277T= (p.Thr759=) c.8211T= (p.Thr2737=) c.896-29605T= c.3030+12T= (n.3030+12T=) c.8085T= (p.Thr2695=) n.2014T= c.8214T= (p.Thr2738=) | |
2 | g.73490171G>A | CA347267871 | ALMS1 | c.7831G>A (p.Glu2611Lys) c.1223G>A c.5283G>A c.2278G>A (p.Glu760Lys) c.8212G>A (p.Glu2738Lys) c.896-29604G>A c.3030+13G>A (n.3030+13G>A) c.8086G>A (p.Glu2696Lys) n.2015G>A c.8215G>A (p.Glu2739Lys) | |
2 | g.73490171G>C | CA347267868 | ALMS1 | c.7831G>C (p.Glu2611Gln) c.1223G>C c.5283G>C c.2278G>C (p.Glu760Gln) c.8212G>C (p.Glu2738Gln) c.896-29604G>C c.3030+13G>C (n.3030+13G>C) c.8086G>C (p.Glu2696Gln) n.2015G>C c.8215G>C (p.Glu2739Gln) | |
2 | g.73490171G>T | CA347267870 | ALMS1 | c.7831G>T (p.Glu2611Ter) c.1223G>T c.5283G>T c.2278G>T (p.Glu760Ter) c.8212G>T (p.Glu2738Ter) c.896-29604G>T c.3030+13G>T (n.3030+13G>T) c.8086G>T (p.Glu2696Ter) n.2015G>T c.8215G>T (p.Glu2739Ter) | |
2 | g.73490172A>C | CA347267873 | ALMS1 | c.7832A>C (p.Glu2611Ala) c.1224A>C c.5284A>C c.2279A>C (p.Glu760Ala) c.8213A>C (p.Glu2738Ala) c.896-29603A>C c.3030+14A>C (n.3030+14A>C) c.8087A>C (p.Glu2696Ala) n.2016A>C c.8216A>C (p.Glu2739Ala) | |
2 | g.73490172A>G | CA347267875 | ALMS1 | c.7832A>G (p.Glu2611Gly) c.1224A>G c.5284A>G c.2279A>G (p.Glu760Gly) c.8213A>G (p.Glu2738Gly) c.896-29603A>G c.3030+14A>G (n.3030+14A>G) c.8087A>G (p.Glu2696Gly) n.2016A>G c.8216A>G (p.Glu2739Gly) | |
2 | g.73490172A>T | CA347267877 | ALMS1 | c.7832A>T (p.Glu2611Val) c.1224A>T c.5284A>T c.2279A>T (p.Glu760Val) c.8213A>T (p.Glu2738Val) c.896-29603A>T c.3030+14A>T (n.3030+14A>T) c.8087A>T (p.Glu2696Val) n.2016A>T c.8216A>T (p.Glu2739Val) | |
2 | g.73490173A= | CA1260981623 | ALMS1 | c.7833A= (p.Glu2611=) c.1225A= c.5285A= c.2280A= (p.Glu760=) c.8214A= (p.Glu2738=) c.896-29602A= c.3030+15A= (n.3030+15A=) c.8088A= (p.Glu2696=) n.2017A= c.8217A= (p.Glu2739=) | |
2 | g.73490173A>C | CA1714428 | ALMS1 | c.7833A>C (p.Glu2611Asp) c.1225A>C c.5285A>C c.2280A>C (p.Glu760Asp) c.8214A>C (p.Glu2738Asp) c.896-29602A>C c.3030+15A>C (n.3030+15A>C) c.8088A>C (p.Glu2696Asp) n.2017A>C c.8217A>C (p.Glu2739Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490173A>G | CA427001164 | ALMS1 | c.7833A>G (p.Glu2611=) c.1225A>G c.5285A>G c.2280A>G (p.Glu760=) c.8214A>G (p.Glu2738=) c.896-29602A>G c.3030+15A>G (n.3030+15A>G) c.8088A>G (p.Glu2696=) n.2017A>G c.8217A>G (p.Glu2739=) | |
2 | g.73490173A>T | CA347267879 | ALMS1 | c.7833A>T (p.Glu2611Asp) c.1225A>T c.5285A>T c.2280A>T (p.Glu760Asp) c.8214A>T (p.Glu2738Asp) c.896-29602A>T c.3030+15A>T (n.3030+15A>T) c.8088A>T (p.Glu2696Asp) n.2017A>T c.8217A>T (p.Glu2739Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73490174G>A | CA347267881 | ALMS1 | c.7834G>A (p.Gly2612Ser) c.1226G>A c.5286G>A c.2281G>A (p.Gly761Ser) c.8215G>A (p.Gly2739Ser) c.896-29601G>A c.3030+16G>A (n.3030+16G>A) c.8089G>A (p.Gly2697Ser) n.2018G>A c.8218G>A (p.Gly2740Ser) | ClinVar |
2 | g.73490174G>C | CA50378247 | ALMS1 | c.7834G>C (p.Gly2612Arg) c.1226G>C c.5286G>C c.2281G>C (p.Gly761Arg) c.8215G>C (p.Gly2739Arg) c.896-29601G>C c.3030+16G>C (n.3030+16G>C) c.8089G>C (p.Gly2697Arg) n.2018G>C c.8218G>C (p.Gly2740Arg) | dbSNP |
2 | g.73490174G= | CA1260981627 | ALMS1 | c.7834G= (p.Gly2612=) c.1226G= c.5286G= c.2281G= (p.Gly761=) c.8215G= (p.Gly2739=) c.896-29601G= c.3030+16G= (n.3030+16G=) c.8089G= (p.Gly2697=) n.2018G= c.8218G= (p.Gly2740=) | |
2 | g.73490174G>T | CA347267882 | ALMS1 | c.7834G>T (p.Gly2612Cys) c.1226G>T c.5286G>T c.2281G>T (p.Gly761Cys) c.8215G>T (p.Gly2739Cys) c.896-29601G>T c.3030+16G>T (n.3030+16G>T) c.8089G>T (p.Gly2697Cys) n.2018G>T c.8218G>T (p.Gly2740Cys) | |
2 | g.73490175G>A | CA347267883 | ALMS1 | c.7835G>A (p.Gly2612Asp) c.1227G>A c.5287G>A c.2282G>A (p.Gly761Asp) c.8216G>A (p.Gly2739Asp) c.896-29600G>A c.3030+17G>A (n.3030+17G>A) c.8090G>A (p.Gly2697Asp) n.2019G>A c.8219G>A (p.Gly2740Asp) | gnomAD v4 |
2 | g.73490175G>C | CA347267885 | ALMS1 | c.7835G>C (p.Gly2612Ala) c.1227G>C c.5287G>C c.2282G>C (p.Gly761Ala) c.8216G>C (p.Gly2739Ala) c.896-29600G>C c.3030+17G>C (n.3030+17G>C) c.8090G>C (p.Gly2697Ala) n.2019G>C c.8219G>C (p.Gly2740Ala) | |
2 | g.73490175G= | CA1260981630 | ALMS1 | c.7835G= (p.Gly2612=) c.1227G= c.5287G= c.2282G= (p.Gly761=) c.8216G= (p.Gly2739=) c.896-29600G= c.3030+17G= (n.3030+17G=) c.8090G= (p.Gly2697=) n.2019G= c.8219G= (p.Gly2740=) | |
2 | g.73490175G>T | CA347267886 | ALMS1 | c.7835G>T (p.Gly2612Val) c.1227G>T c.5287G>T c.2282G>T (p.Gly761Val) c.8216G>T (p.Gly2739Val) c.896-29600G>T c.3030+17G>T (n.3030+17G>T) c.8090G>T (p.Gly2697Val) n.2019G>T c.8219G>T (p.Gly2740Val) | dbSNP gnomAD v2 |
2 | g.73490176T>A | CA427001173 | ALMS1 | c.7836T>A (p.Gly2612=) c.1228T>A c.5288T>A c.2283T>A (p.Gly761=) c.8217T>A (p.Gly2739=) c.896-29599T>A c.3030+18T>A (n.3030+18T>A) c.8091T>A (p.Gly2697=) n.2020T>A c.8220T>A (p.Gly2740=) | |
2 | g.73490176T>C | CA427001175 | ALMS1 | c.7836T>C (p.Gly2612=) c.1228T>C c.5288T>C c.2283T>C (p.Gly761=) c.8217T>C (p.Gly2739=) c.896-29599T>C c.3030+18T>C (n.3030+18T>C) c.8091T>C (p.Gly2697=) n.2020T>C c.8220T>C (p.Gly2740=) | gnomAD v4 |
2 | g.73490176T>G | CA427001176 | ALMS1 | c.7836T>G (p.Gly2612=) c.1228T>G c.5288T>G c.2283T>G (p.Gly761=) c.8217T>G (p.Gly2739=) c.896-29599T>G c.3030+18T>G (n.3030+18T>G) c.8091T>G (p.Gly2697=) n.2020T>G c.8220T>G (p.Gly2740=) | |
2 | g.73490177A>C | CA347267889 | ALMS1 | c.7837A>C (p.Ser2613Arg) c.1229A>C c.5289A>C c.2284A>C (p.Ser762Arg) c.8218A>C (p.Ser2740Arg) c.896-29598A>C c.3030+19A>C (n.3030+19A>C) c.8092A>C (p.Ser2698Arg) n.2021A>C c.8221A>C (p.Ser2741Arg) | |
2 | g.73490177A>G | CA347267888 | ALMS1 | c.7837A>G (p.Ser2613Gly) c.1229A>G c.5289A>G c.2284A>G (p.Ser762Gly) c.8218A>G (p.Ser2740Gly) c.896-29598A>G c.3030+19A>G (n.3030+19A>G) c.8092A>G (p.Ser2698Gly) n.2021A>G c.8221A>G (p.Ser2741Gly) | ClinVar |
2 | g.73490177A>T | CA347267887 | ALMS1 | c.7837A>T (p.Ser2613Cys) c.1229A>T c.5289A>T c.2284A>T (p.Ser762Cys) c.8218A>T (p.Ser2740Cys) c.896-29598A>T c.3030+19A>T (n.3030+19A>T) c.8092A>T (p.Ser2698Cys) n.2021A>T c.8221A>T (p.Ser2741Cys) | |
2 | g.73490178G>A | CA347267891 | ALMS1 | c.7838G>A (p.Ser2613Asn) c.1230G>A c.5290G>A c.2285G>A (p.Ser762Asn) c.8219G>A (p.Ser2740Asn) c.896-29597G>A c.3030+20G>A (n.3030+20G>A) c.8093G>A (p.Ser2698Asn) n.2022G>A c.8222G>A (p.Ser2741Asn) | |
2 | g.73490178G>C | CA347267894 | ALMS1 | c.7838G>C (p.Ser2613Thr) c.1230G>C c.5290G>C c.2285G>C (p.Ser762Thr) c.8219G>C (p.Ser2740Thr) c.896-29597G>C c.3030+20G>C (n.3030+20G>C) c.8093G>C (p.Ser2698Thr) n.2022G>C c.8222G>C (p.Ser2741Thr) | |
2 | g.73490178G= | CA1260981633 | ALMS1 | c.7838G= (p.Ser2613=) c.1230G= c.5290G= c.2285G= (p.Ser762=) c.8219G= (p.Ser2740=) c.896-29597G= c.3030+20G= (n.3030+20G=) c.8093G= (p.Ser2698=) n.2022G= c.8222G= (p.Ser2741=) | |
2 | g.73490178G>T | CA347267893 | ALMS1 | c.7838G>T (p.Ser2613Ile) c.1230G>T c.5290G>T c.2285G>T (p.Ser762Ile) c.8219G>T (p.Ser2740Ile) c.896-29597G>T c.3030+20G>T (n.3030+20G>T) c.8093G>T (p.Ser2698Ile) n.2022G>T c.8222G>T (p.Ser2741Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490179C>A | CA50378264 | ALMS1 | c.7839C>A (p.Ser2613Arg) c.1231C>A c.5291C>A c.2286C>A (p.Ser762Arg) c.8220C>A (p.Ser2740Arg) c.896-29596C>A c.3030+21C>A (n.3030+21C>A) c.8094C>A (p.Ser2698Arg) n.2023C>A c.8223C>A (p.Ser2741Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490179C= | CA1260981637 | ALMS1 | c.7839C= (p.Ser2613=) c.1231C= c.5291C= c.2286C= (p.Ser762=) c.8220C= (p.Ser2740=) c.896-29596C= c.3030+21C= (n.3030+21C=) c.8094C= (p.Ser2698=) n.2023C= c.8223C= (p.Ser2741=) | |
2 | g.73490179C>G | CA347267895 | ALMS1 | c.7839C>G (p.Ser2613Arg) c.1231C>G c.5291C>G c.2286C>G (p.Ser762Arg) c.8220C>G (p.Ser2740Arg) c.896-29596C>G c.3030+21C>G (n.3030+21C>G) c.8094C>G (p.Ser2698Arg) n.2023C>G c.8223C>G (p.Ser2741Arg) | |
2 | g.73490179C>T | CA427001182 | ALMS1 | c.7839C>T (p.Ser2613=) c.1231C>T c.5291C>T c.2286C>T (p.Ser762=) c.8220C>T (p.Ser2740=) c.896-29596C>T c.3030+21C>T (n.3030+21C>T) c.8094C>T (p.Ser2698=) n.2023C>T c.8223C>T (p.Ser2741=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490180C>A | CA347267897 | ALMS1 | c.7840C>A (p.Gln2614Lys) c.1232C>A c.5292C>A c.2287C>A (p.Gln763Lys) c.8221C>A (p.Gln2741Lys) c.896-29595C>A c.3030+22C>A (n.3030+22C>A) c.8095C>A (p.Gln2699Lys) n.2024C>A c.8224C>A (p.Gln2742Lys) | |
2 | g.73490180C>G | CA347267900 | ALMS1 | c.7840C>G (p.Gln2614Glu) c.1232C>G c.5292C>G c.2287C>G (p.Gln763Glu) c.8221C>G (p.Gln2741Glu) c.896-29595C>G c.3030+22C>G (n.3030+22C>G) c.8095C>G (p.Gln2699Glu) n.2024C>G c.8224C>G (p.Gln2742Glu) | |
2 | g.73490180C>T | CA347267898 | ALMS1 | c.7840C>T (p.Gln2614Ter) c.1232C>T c.5292C>T c.2287C>T (p.Gln763Ter) c.8221C>T (p.Gln2741Ter) c.896-29595C>T c.3030+22C>T (n.3030+22C>T) c.8095C>T (p.Gln2699Ter) n.2024C>T c.8224C>T (p.Gln2742Ter) | ClinVar |
2 | g.73490181A>C | CA347267902 | ALMS1 | c.7841A>C (p.Gln2614Pro) c.1233A>C c.5293A>C c.2288A>C (p.Gln763Pro) c.8222A>C (p.Gln2741Pro) c.896-29594A>C c.3030+23A>C (n.3030+23A>C) c.8096A>C (p.Gln2699Pro) n.2025A>C c.8225A>C (p.Gln2742Pro) | |
2 | g.73490181A>G | CA347267903 | ALMS1 | c.7841A>G (p.Gln2614Arg) c.1233A>G c.5293A>G c.2288A>G (p.Gln763Arg) c.8222A>G (p.Gln2741Arg) c.896-29594A>G c.3030+23A>G (n.3030+23A>G) c.8096A>G (p.Gln2699Arg) n.2025A>G c.8225A>G (p.Gln2742Arg) | |
2 | g.73490181A>T | CA347267905 | ALMS1 | c.7841A>T (p.Gln2614Leu) c.1233A>T c.5293A>T c.2288A>T (p.Gln763Leu) c.8222A>T (p.Gln2741Leu) c.896-29594A>T c.3030+23A>T (n.3030+23A>T) c.8096A>T (p.Gln2699Leu) n.2025A>T c.8225A>T (p.Gln2742Leu) | |
2 | g.73490182G>A | CA427001190 | ALMS1 | c.7842G>A (p.Gln2614=) c.1234G>A c.5294G>A c.2289G>A (p.Gln763=) c.8223G>A (p.Gln2741=) c.896-29593G>A c.3030+24G>A (n.3030+24G>A) c.8097G>A (p.Gln2699=) n.2026G>A c.8226G>A (p.Gln2742=) | ClinVar |
2 | g.73490182G>C | CA347267906 | ALMS1 | c.7842G>C (p.Gln2614His) c.1234G>C c.5294G>C c.2289G>C (p.Gln763His) c.8223G>C (p.Gln2741His) c.896-29593G>C c.3030+24G>C (n.3030+24G>C) c.8097G>C (p.Gln2699His) n.2026G>C c.8226G>C (p.Gln2742His) | |
2 | g.73490182G= | CA1260981639 | ALMS1 | c.7842G= (p.Gln2614=) c.1234G= c.5294G= c.2289G= (p.Gln763=) c.8223G= (p.Gln2741=) c.896-29593G= c.3030+24G= (n.3030+24G=) c.8097G= (p.Gln2699=) n.2026G= c.8226G= (p.Gln2742=) | |
2 | g.73490182G>T | CA347267908 | ALMS1 | c.7842G>T (p.Gln2614His) c.1234G>T c.5294G>T c.2289G>T (p.Gln763His) c.8223G>T (p.Gln2741His) c.896-29593G>T c.3030+24G>T (n.3030+24G>T) c.8097G>T (p.Gln2699His) n.2026G>T c.8226G>T (p.Gln2742His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490183T>A | CA347267910 | ALMS1 | c.7843T>A (p.Cys2615Ser) c.1235T>A c.5295T>A c.2290T>A (p.Cys764Ser) c.8224T>A (p.Cys2742Ser) c.896-29592T>A c.3030+25T>A (n.3030+25T>A) c.8098T>A (p.Cys2700Ser) n.2027T>A c.8227T>A (p.Cys2743Ser) | |
2 | g.73490183T>C | CA50378279 | ALMS1 | c.7843T>C (p.Cys2615Arg) c.1235T>C c.5295T>C c.2290T>C (p.Cys764Arg) c.8224T>C (p.Cys2742Arg) c.896-29592T>C c.3030+25T>C (n.3030+25T>C) c.8098T>C (p.Cys2700Arg) n.2027T>C c.8227T>C (p.Cys2743Arg) | dbSNP gnomAD v4 |
2 | g.73490183T>G | CA16042402 | ALMS1 | c.7843T>G (p.Cys2615Gly) c.1235T>G c.5295T>G c.2290T>G (p.Cys764Gly) c.8224T>G (p.Cys2742Gly) c.896-29592T>G c.3030+25T>G (n.3030+25T>G) c.8098T>G (p.Cys2700Gly) n.2027T>G c.8227T>G (p.Cys2743Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.73490183T= | CA1260981647 | ALMS1 | c.7843T= (p.Cys2615=) c.1235T= c.5295T= c.2290T= (p.Cys764=) c.8224T= (p.Cys2742=) c.896-29592T= c.3030+25T= (n.3030+25T=) c.8098T= (p.Cys2700=) n.2027T= c.8227T= (p.Cys2743=) | |
2 | g.73490184G>A | CA347267913 | ALMS1 | c.7844G>A (p.Cys2615Tyr) c.1236G>A c.5296G>A c.2291G>A (p.Cys764Tyr) c.8225G>A (p.Cys2742Tyr) c.896-29591G>A c.3030+26G>A (n.3030+26G>A) c.8099G>A (p.Cys2700Tyr) n.2028G>A c.8228G>A (p.Cys2743Tyr) | gnomAD v4 |
2 | g.73490184G>C | CA347267915 | ALMS1 | c.7844G>C (p.Cys2615Ser) c.1236G>C c.5296G>C c.2291G>C (p.Cys764Ser) c.8225G>C (p.Cys2742Ser) c.896-29591G>C c.3030+26G>C (n.3030+26G>C) c.8099G>C (p.Cys2700Ser) n.2028G>C c.8228G>C (p.Cys2743Ser) | ClinVar gnomAD v4 |
2 | g.73490184G>T | CA347267916 | ALMS1 | c.7844G>T (p.Cys2615Phe) c.1236G>T c.5296G>T c.2291G>T (p.Cys764Phe) c.8225G>T (p.Cys2742Phe) c.896-29591G>T c.3030+26G>T (n.3030+26G>T) c.8099G>T (p.Cys2700Phe) n.2028G>T c.8228G>T (p.Cys2743Phe) | |
2 | g.73490185T>A | CA347267919 | ALMS1 | c.7845T>A (p.Cys2615Ter) c.1237T>A c.5297T>A c.2292T>A (p.Cys764Ter) c.8226T>A (p.Cys2742Ter) c.896-29590T>A c.3030+27T>A (n.3030+27T>A) c.8100T>A (p.Cys2700Ter) n.2029T>A c.8229T>A (p.Cys2743Ter) | |
2 | g.73490185T>C | CA427001198 | ALMS1 | c.7845T>C (p.Cys2615=) c.1237T>C c.5297T>C c.2292T>C (p.Cys764=) c.8226T>C (p.Cys2742=) c.896-29590T>C c.3030+27T>C (n.3030+27T>C) c.8100T>C (p.Cys2700=) n.2029T>C c.8229T>C (p.Cys2743=) | |
2 | g.73490185T>G | CA347267918 | ALMS1 | c.7845T>G (p.Cys2615Trp) c.1237T>G c.5297T>G c.2292T>G (p.Cys764Trp) c.8226T>G (p.Cys2742Trp) c.896-29590T>G c.3030+27T>G (n.3030+27T>G) c.8100T>G (p.Cys2700Trp) n.2029T>G c.8229T>G (p.Cys2743Trp) | |
2 | g.73490186A>C | CA347267921 | ALMS1 | c.7846A>C (p.Thr2616Pro) c.1238A>C c.5298A>C c.2293A>C (p.Thr765Pro) c.8227A>C (p.Thr2743Pro) c.896-29589A>C c.3030+28A>C (n.3030+28A>C) c.8101A>C (p.Thr2701Pro) n.2030A>C c.8230A>C (p.Thr2744Pro) | |
2 | g.73490186A>G | CA347267922 | ALMS1 | c.7846A>G (p.Thr2616Ala) c.1238A>G c.5298A>G c.2293A>G (p.Thr765Ala) c.8227A>G (p.Thr2743Ala) c.896-29589A>G c.3030+28A>G (n.3030+28A>G) c.8101A>G (p.Thr2701Ala) n.2030A>G c.8230A>G (p.Thr2744Ala) | gnomAD v4 |
2 | g.73490186A>T | CA347267924 | ALMS1 | c.7846A>T (p.Thr2616Ser) c.1238A>T c.5298A>T c.2293A>T (p.Thr765Ser) c.8227A>T (p.Thr2743Ser) c.896-29589A>T c.3030+28A>T (n.3030+28A>T) c.8101A>T (p.Thr2701Ser) n.2030A>T c.8230A>T (p.Thr2744Ser) | |
2 | g.73490187C>A | CA347267926 | ALMS1 | c.7847C>A (p.Thr2616Asn) c.1239C>A c.5299C>A c.2294C>A (p.Thr765Asn) c.8228C>A (p.Thr2743Asn) c.896-29588C>A c.3030+29C>A (n.3030+29C>A) c.8102C>A (p.Thr2701Asn) n.2031C>A c.8231C>A (p.Thr2744Asn) | |
2 | g.73490187C= | CA1260981650 | ALMS1 | c.7847C= (p.Thr2616=) c.1239C= c.5299C= c.2294C= (p.Thr765=) c.8228C= (p.Thr2743=) c.896-29588C= c.3030+29C= (n.3030+29C=) c.8102C= (p.Thr2701=) n.2031C= c.8231C= (p.Thr2744=) | |
2 | g.73490187C>G | CA347267927 | ALMS1 | c.7847C>G (p.Thr2616Ser) c.1239C>G c.5299C>G c.2294C>G (p.Thr765Ser) c.8228C>G (p.Thr2743Ser) c.896-29588C>G c.3030+29C>G (n.3030+29C>G) c.8102C>G (p.Thr2701Ser) n.2031C>G c.8231C>G (p.Thr2744Ser) | dbSNP |
2 | g.73490187C>T | CA347267929 | ALMS1 | c.7847C>T (p.Thr2616Ile) c.1239C>T c.5299C>T c.2294C>T (p.Thr765Ile) c.8228C>T (p.Thr2743Ile) c.896-29588C>T c.3030+29C>T (n.3030+29C>T) c.8102C>T (p.Thr2701Ile) n.2031C>T c.8231C>T (p.Thr2744Ile) | gnomAD v4 |
2 | g.73490188T>A | CA427001210 | ALMS1 | c.7848T>A (p.Thr2616=) c.1240T>A c.5300T>A c.2295T>A (p.Thr765=) c.8229T>A (p.Thr2743=) c.896-29587T>A c.3030+30T>A (n.3030+30T>A) c.8103T>A (p.Thr2701=) n.2032T>A c.8232T>A (p.Thr2744=) | ClinVar dbSNP |
2 | g.73490188T>C | CA427001209 | ALMS1 | c.7848T>C (p.Thr2616=) c.1240T>C c.5300T>C c.2295T>C (p.Thr765=) c.8229T>C (p.Thr2743=) c.896-29587T>C c.3030+30T>C (n.3030+30T>C) c.8103T>C (p.Thr2701=) n.2032T>C c.8232T>C (p.Thr2744=) | ClinVar dbSNP gnomAD v4 |
2 | g.73490188T>G | CA427001207 | ALMS1 | c.7848T>G (p.Thr2616=) c.1240T>G c.5300T>G c.2295T>G (p.Thr765=) c.8229T>G (p.Thr2743=) c.896-29587T>G c.3030+30T>G (n.3030+30T>G) c.8103T>G (p.Thr2701=) n.2032T>G c.8232T>G (p.Thr2744=) | |
2 | g.73490189G>A | CA347267931 | ALMS1 | c.7849G>A (p.Gly2617Arg) c.1241G>A c.5301G>A c.2296G>A (p.Gly766Arg) c.8230G>A (p.Gly2744Arg) c.896-29586G>A c.3030+31G>A (n.3030+31G>A) c.8104G>A (p.Gly2702Arg) n.2033G>A c.8233G>A (p.Gly2745Arg) | |
2 | g.73490189G>C | CA347267932 | ALMS1 | c.7849G>C (p.Gly2617Arg) c.1241G>C c.5301G>C c.2296G>C (p.Gly766Arg) c.8230G>C (p.Gly2744Arg) c.896-29586G>C c.3030+31G>C (n.3030+31G>C) c.8104G>C (p.Gly2702Arg) n.2033G>C c.8233G>C (p.Gly2745Arg) | |
2 | g.73490189G>T | CA347267933 | ALMS1 | c.7849G>T (p.Gly2617Ter) c.1241G>T c.5301G>T c.2296G>T (p.Gly766Ter) c.8230G>T (p.Gly2744Ter) c.896-29586G>T c.3030+31G>T (n.3030+31G>T) c.8104G>T (p.Gly2702Ter) n.2033G>T c.8233G>T (p.Gly2745Ter) | |
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) |