Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.73489928_73489934del | CA2582342409 | ALMS1 | c.7588_7594del (p.Phe2530LeufsTer25) c.980_986del c.5040_5046del c.2035_2041del (p.Phe679LeufsTer25) c.7969_7975del (p.Phe2657LeufsTer25) c.896-29847_896-29841del c.2800_2806del (p.Phe934LeufsTer25) c.7843_7849del (p.Phe2615LeufsTer25) n.1772_1778del c.7972_7978del (p.Phe2658LeufsTer25) | ClinVar |
2 | g.73489927C>A | CA347266656 | ALMS1 | c.7587C>A (p.Asn2529Lys) c.979C>A c.5039C>A c.2034C>A (p.Asn678Lys) c.7968C>A (p.Asn2656Lys) c.896-29848C>A c.2799C>A (p.Asn933Lys) c.7842C>A (p.Asn2614Lys) n.1771C>A c.7971C>A (p.Asn2657Lys) | |
2 | g.73489927C= | CA1260981220 | ALMS1 | c.7587C= (p.Asn2529=) c.979C= c.5039C= c.2034C= (p.Asn678=) c.7968C= (p.Asn2656=) c.896-29848C= c.2799C= (p.Asn933=) c.7842C= (p.Asn2614=) n.1771C= c.7971C= (p.Asn2657=) | |
2 | g.73489927C>G | CA1714383 | ALMS1 | c.7587C>G (p.Asn2529Lys) c.979C>G c.5039C>G c.2034C>G (p.Asn678Lys) c.7968C>G (p.Asn2656Lys) c.896-29848C>G c.2799C>G (p.Asn933Lys) c.7842C>G (p.Asn2614Lys) n.1771C>G c.7971C>G (p.Asn2657Lys) | dbSNP ExAC gnomAD v2 |
2 | g.73489927C>T | CA427000712 | ALMS1 | c.7587C>T (p.Asn2529=) c.979C>T c.5039C>T c.2034C>T (p.Asn678=) c.7968C>T (p.Asn2656=) c.896-29848C>T c.2799C>T (p.Asn933=) c.7842C>T (p.Asn2614=) n.1771C>T c.7971C>T (p.Asn2657=) | |
2 | g.73489928T>A | CA347266660 | ALMS1 | c.7588T>A (p.Phe2530Ile) c.980T>A c.5040T>A c.2035T>A (p.Phe679Ile) c.7969T>A (p.Phe2657Ile) c.896-29847T>A c.2800T>A (p.Phe934Ile) c.7843T>A (p.Phe2615Ile) n.1772T>A c.7972T>A (p.Phe2658Ile) | |
2 | g.73489928T>C | CA347266663 | ALMS1 | c.7588T>C (p.Phe2530Leu) c.980T>C c.5040T>C c.2035T>C (p.Phe679Leu) c.7969T>C (p.Phe2657Leu) c.896-29847T>C c.2800T>C (p.Phe934Leu) c.7843T>C (p.Phe2615Leu) n.1772T>C c.7972T>C (p.Phe2658Leu) | ClinVar dbSNP |
2 | g.73489928T>G | CA347266665 | ALMS1 | c.7588T>G (p.Phe2530Val) c.980T>G c.5040T>G c.2035T>G (p.Phe679Val) c.7969T>G (p.Phe2657Val) c.896-29847T>G c.2800T>G (p.Phe934Val) c.7843T>G (p.Phe2615Val) n.1772T>G c.7972T>G (p.Phe2658Val) | |
2 | g.73489928T= | CA1260981221 | ALMS1 | c.7588T= (p.Phe2530=) c.980T= c.5040T= c.2035T= (p.Phe679=) c.7969T= (p.Phe2657=) c.896-29847T= c.2800T= (p.Phe934=) c.7843T= (p.Phe2615=) n.1772T= c.7972T= (p.Phe2658=) | |
2 | g.73489929T>A | CA347266667 | ALMS1 | c.7589T>A (p.Phe2530Tyr) c.981T>A c.5041T>A c.2036T>A (p.Phe679Tyr) c.7970T>A (p.Phe2657Tyr) c.896-29846T>A c.2801T>A (p.Phe934Tyr) c.7844T>A (p.Phe2615Tyr) n.1773T>A c.7973T>A (p.Phe2658Tyr) | |
2 | g.73489929T>C | CA347266669 | ALMS1 | c.7589T>C (p.Phe2530Ser) c.981T>C c.5041T>C c.2036T>C (p.Phe679Ser) c.7970T>C (p.Phe2657Ser) c.896-29846T>C c.2801T>C (p.Phe934Ser) c.7844T>C (p.Phe2615Ser) n.1773T>C c.7973T>C (p.Phe2658Ser) | |
2 | g.73489929T>G | CA347266672 | ALMS1 | c.7589T>G (p.Phe2530Cys) c.981T>G c.5041T>G c.2036T>G (p.Phe679Cys) c.7970T>G (p.Phe2657Cys) c.896-29846T>G c.2801T>G (p.Phe934Cys) c.7844T>G (p.Phe2615Cys) n.1773T>G c.7973T>G (p.Phe2658Cys) | |
2 | g.73489930T>A | CA347266675 | ALMS1 | c.7590T>A (p.Phe2530Leu) c.982T>A c.5042T>A c.2037T>A (p.Phe679Leu) c.7971T>A (p.Phe2657Leu) c.896-29845T>A c.2802T>A (p.Phe934Leu) c.7845T>A (p.Phe2615Leu) n.1774T>A c.7974T>A (p.Phe2658Leu) | |
2 | g.73489930T>C | CA427000713 | ALMS1 | c.7590T>C (p.Phe2530=) c.982T>C c.5042T>C c.2037T>C (p.Phe679=) c.7971T>C (p.Phe2657=) c.896-29845T>C c.2802T>C (p.Phe934=) c.7845T>C (p.Phe2615=) n.1774T>C c.7974T>C (p.Phe2658=) | ClinVar |
2 | g.73489930T>G | CA347266676 | ALMS1 | c.7590T>G (p.Phe2530Leu) c.982T>G c.5042T>G c.2037T>G (p.Phe679Leu) c.7971T>G (p.Phe2657Leu) c.896-29845T>G c.2802T>G (p.Phe934Leu) c.7845T>G (p.Phe2615Leu) n.1774T>G c.7974T>G (p.Phe2658Leu) | |
2 | g.73489931A>C | CA347266678 | ALMS1 | c.7591A>C (p.Ile2531Leu) c.983A>C c.5043A>C c.2038A>C (p.Ile680Leu) c.7972A>C (p.Ile2658Leu) c.896-29844A>C c.2803A>C (p.Ile935Leu) c.7846A>C (p.Ile2616Leu) n.1775A>C c.7975A>C (p.Ile2659Leu) | gnomAD v4 |
2 | g.73489931A>G | CA347266679 | ALMS1 | c.7591A>G (p.Ile2531Val) c.983A>G c.5043A>G c.2038A>G (p.Ile680Val) c.7972A>G (p.Ile2658Val) c.896-29844A>G c.2803A>G (p.Ile935Val) c.7846A>G (p.Ile2616Val) n.1775A>G c.7975A>G (p.Ile2659Val) | gnomAD v4 |
2 | g.73489931A>T | CA347266682 | ALMS1 | c.7591A>T (p.Ile2531Leu) c.983A>T c.5043A>T c.2038A>T (p.Ile680Leu) c.7972A>T (p.Ile2658Leu) c.896-29844A>T c.2803A>T (p.Ile935Leu) c.7846A>T (p.Ile2616Leu) n.1775A>T c.7975A>T (p.Ile2659Leu) | |
2 | g.73489932T>A | CA347266691 | ALMS1 | c.7592T>A (p.Ile2531Lys) c.984T>A c.5044T>A c.2039T>A (p.Ile680Lys) c.7973T>A (p.Ile2658Lys) c.896-29843T>A c.2804T>A (p.Ile935Lys) c.7847T>A (p.Ile2616Lys) n.1776T>A c.7976T>A (p.Ile2659Lys) | |
2 | g.73489932T>C | CA347266686 | ALMS1 | c.7592T>C (p.Ile2531Thr) c.984T>C c.5044T>C c.2039T>C (p.Ile680Thr) c.7973T>C (p.Ile2658Thr) c.896-29843T>C c.2804T>C (p.Ile935Thr) c.7847T>C (p.Ile2616Thr) n.1776T>C c.7976T>C (p.Ile2659Thr) | |
2 | g.73489932T>G | CA347266685 | ALMS1 | c.7592T>G (p.Ile2531Arg) c.984T>G c.5044T>G c.2039T>G (p.Ile680Arg) c.7973T>G (p.Ile2658Arg) c.896-29843T>G c.2804T>G (p.Ile935Arg) c.7847T>G (p.Ile2616Arg) n.1776T>G c.7976T>G (p.Ile2659Arg) | |
2 | g.73489933A>C | CA427000715 | ALMS1 | c.7593A>C (p.Ile2531=) c.985A>C c.5045A>C c.2040A>C (p.Ile680=) c.7974A>C (p.Ile2658=) c.896-29842A>C c.2805A>C (p.Ile935=) c.7848A>C (p.Ile2616=) n.1777A>C c.7977A>C (p.Ile2659=) | |
2 | g.73489933A>G | CA347266693 | ALMS1 | c.7593A>G (p.Ile2531Met) c.985A>G c.5045A>G c.2040A>G (p.Ile680Met) c.7974A>G (p.Ile2658Met) c.896-29842A>G c.2805A>G (p.Ile935Met) c.7848A>G (p.Ile2616Met) n.1777A>G c.7977A>G (p.Ile2659Met) | |
2 | g.73489933A>T | CA427000714 | ALMS1 | c.7593A>T (p.Ile2531=) c.985A>T c.5045A>T c.2040A>T (p.Ile680=) c.7974A>T (p.Ile2658=) c.896-29842A>T c.2805A>T (p.Ile935=) c.7848A>T (p.Ile2616=) n.1777A>T c.7977A>T (p.Ile2659=) | |
2 | g.73489934C>A | CA347266700 | ALMS1 | c.7594C>A (p.Pro2532Thr) c.986C>A c.5046C>A c.2041C>A (p.Pro681Thr) c.7975C>A (p.Pro2659Thr) c.896-29841C>A c.2806C>A (p.Pro936Thr) c.7849C>A (p.Pro2617Thr) n.1778C>A c.7978C>A (p.Pro2660Thr) | |
2 | g.73489934C= | CA1260981222 | ALMS1 | c.7594C= (p.Pro2532=) c.986C= c.5046C= c.2041C= (p.Pro681=) c.7975C= (p.Pro2659=) c.896-29841C= c.2806C= (p.Pro936=) c.7849C= (p.Pro2617=) n.1778C= c.7978C= (p.Pro2660=) | |
2 | g.73489934C>G | CA347266697 | ALMS1 | c.7594C>G (p.Pro2532Ala) c.986C>G c.5046C>G c.2041C>G (p.Pro681Ala) c.7975C>G (p.Pro2659Ala) c.896-29841C>G c.2806C>G (p.Pro936Ala) c.7849C>G (p.Pro2617Ala) n.1778C>G c.7978C>G (p.Pro2660Ala) | |
2 | g.73489934C>T | CA50377791 | ALMS1 | c.7594C>T (p.Pro2532Ser) c.986C>T c.5046C>T c.2041C>T (p.Pro681Ser) c.7975C>T (p.Pro2659Ser) c.896-29841C>T c.2806C>T (p.Pro936Ser) c.7849C>T (p.Pro2617Ser) n.1778C>T c.7978C>T (p.Pro2660Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489935del | CA2659619828 | ALMS1 | c.7595del (p.Pro2532LeufsTer25) c.987del c.5047del c.2042del (p.Pro681LeufsTer25) c.7976del (p.Pro2659LeufsTer25) c.896-29840del c.2807del (p.Pro936LeufsTer25) c.7850del (p.Pro2617LeufsTer25) n.1779del c.7979del (p.Pro2660LeufsTer25) | gnomAD v4 |
2 | g.73489935C>A | CA347266704 | ALMS1 | c.7595C>A (p.Pro2532His) c.987C>A c.5047C>A c.2042C>A (p.Pro681His) c.7976C>A (p.Pro2659His) c.896-29840C>A c.2807C>A (p.Pro936His) c.7850C>A (p.Pro2617His) n.1779C>A c.7979C>A (p.Pro2660His) | |
2 | g.73489935C= | CA1260981223 | ALMS1 | c.7595C= (p.Pro2532=) c.987C= c.5047C= c.2042C= (p.Pro681=) c.7976C= (p.Pro2659=) c.896-29840C= c.2807C= (p.Pro936=) c.7850C= (p.Pro2617=) n.1779C= c.7979C= (p.Pro2660=) | |
2 | g.73489935C>G | CA1714384 | ALMS1 | c.7595C>G (p.Pro2532Arg) c.987C>G c.5047C>G c.2042C>G (p.Pro681Arg) c.7976C>G (p.Pro2659Arg) c.896-29840C>G c.2807C>G (p.Pro936Arg) c.7850C>G (p.Pro2617Arg) n.1779C>G c.7979C>G (p.Pro2660Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489935C>T | CA347266711 | ALMS1 | c.7595C>T (p.Pro2532Leu) c.987C>T c.5047C>T c.2042C>T (p.Pro681Leu) c.7976C>T (p.Pro2659Leu) c.896-29840C>T c.2807C>T (p.Pro936Leu) c.7850C>T (p.Pro2617Leu) n.1779C>T c.7979C>T (p.Pro2660Leu) | |
2 | g.73489936T>A | CA427000716 | ALMS1 | c.7596T>A (p.Pro2532=) c.988T>A c.5048T>A c.2043T>A (p.Pro681=) c.7977T>A (p.Pro2659=) c.896-29839T>A c.2808T>A (p.Pro936=) c.7851T>A (p.Pro2617=) n.1780T>A c.7980T>A (p.Pro2660=) | |
2 | g.73489936T>C | CA427000717 | ALMS1 | c.7596T>C (p.Pro2532=) c.988T>C c.5048T>C c.2043T>C (p.Pro681=) c.7977T>C (p.Pro2659=) c.896-29839T>C c.2808T>C (p.Pro936=) c.7851T>C (p.Pro2617=) n.1780T>C c.7980T>C (p.Pro2660=) | |
2 | g.73489936T>G | CA427000718 | ALMS1 | c.7596T>G (p.Pro2532=) c.988T>G c.5048T>G c.2043T>G (p.Pro681=) c.7977T>G (p.Pro2659=) c.896-29839T>G c.2808T>G (p.Pro936=) c.7851T>G (p.Pro2617=) n.1780T>G c.7980T>G (p.Pro2660=) | |
2 | g.73489937G>A | CA347266713 | ALMS1 | c.7597G>A (p.Asp2533Asn) c.989G>A c.5049G>A c.2044G>A (p.Asp682Asn) c.7978G>A (p.Asp2660Asn) c.896-29838G>A c.2809G>A (p.Asp937Asn) c.7852G>A (p.Asp2618Asn) n.1781G>A c.7981G>A (p.Asp2661Asn) | |
2 | g.73489937G>C | CA347266715 | ALMS1 | c.7597G>C (p.Asp2533His) c.989G>C c.5049G>C c.2044G>C (p.Asp682His) c.7978G>C (p.Asp2660His) c.896-29838G>C c.2809G>C (p.Asp937His) c.7852G>C (p.Asp2618His) n.1781G>C c.7981G>C (p.Asp2661His) | |
2 | g.73489937G>T | CA347266717 | ALMS1 | c.7597G>T (p.Asp2533Tyr) c.989G>T c.5049G>T c.2044G>T (p.Asp682Tyr) c.7978G>T (p.Asp2660Tyr) c.896-29838G>T c.2809G>T (p.Asp937Tyr) c.7852G>T (p.Asp2618Tyr) n.1781G>T c.7981G>T (p.Asp2661Tyr) | |
2 | g.73489938A>C | CA347266719 | ALMS1 | c.7598A>C (p.Asp2533Ala) c.990A>C c.5050A>C c.2045A>C (p.Asp682Ala) c.7979A>C (p.Asp2660Ala) c.896-29837A>C c.2810A>C (p.Asp937Ala) c.7853A>C (p.Asp2618Ala) n.1782A>C c.7982A>C (p.Asp2661Ala) | |
2 | g.73489938A>G | CA347266721 | ALMS1 | c.7598A>G (p.Asp2533Gly) c.990A>G c.5050A>G c.2045A>G (p.Asp682Gly) c.7979A>G (p.Asp2660Gly) c.896-29837A>G c.2810A>G (p.Asp937Gly) c.7853A>G (p.Asp2618Gly) n.1782A>G c.7982A>G (p.Asp2661Gly) | |
2 | g.73489938A>T | CA347266724 | ALMS1 | c.7598A>T (p.Asp2533Val) c.990A>T c.5050A>T c.2045A>T (p.Asp682Val) c.7979A>T (p.Asp2660Val) c.896-29837A>T c.2810A>T (p.Asp937Val) c.7853A>T (p.Asp2618Val) n.1782A>T c.7982A>T (p.Asp2661Val) | |
2 | g.73489939T>A | CA347266727 | ALMS1 | c.7599T>A (p.Asp2533Glu) c.991T>A c.5051T>A c.2046T>A (p.Asp682Glu) c.7980T>A (p.Asp2660Glu) c.896-29836T>A c.2811T>A (p.Asp937Glu) c.7854T>A (p.Asp2618Glu) n.1783T>A c.7983T>A (p.Asp2661Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489939T>C | CA427000719 | ALMS1 | c.7599T>C (p.Asp2533=) c.991T>C c.5051T>C c.2046T>C (p.Asp682=) c.7980T>C (p.Asp2660=) c.896-29836T>C c.2811T>C (p.Asp937=) c.7854T>C (p.Asp2618=) n.1783T>C c.7983T>C (p.Asp2661=) | gnomAD v4 |
2 | g.73489939T>G | CA347266729 | ALMS1 | c.7599T>G (p.Asp2533Glu) c.991T>G c.5051T>G c.2046T>G (p.Asp682Glu) c.7980T>G (p.Asp2660Glu) c.896-29836T>G c.2811T>G (p.Asp937Glu) c.7854T>G (p.Asp2618Glu) n.1783T>G c.7983T>G (p.Asp2661Glu) | |
2 | g.73489939T= | CA1260981224 | ALMS1 | c.7599T= (p.Asp2533=) c.991T= c.5051T= c.2046T= (p.Asp682=) c.7980T= (p.Asp2660=) c.896-29836T= c.2811T= (p.Asp937=) c.7854T= (p.Asp2618=) n.1783T= c.7983T= (p.Asp2661=) | |
2 | g.73489940G>A | CA1714385 | ALMS1 | c.7600G>A (p.Glu2534Lys) c.992G>A c.5052G>A c.2047G>A (p.Glu683Lys) c.7981G>A (p.Glu2661Lys) c.896-29835G>A c.2812G>A (p.Glu938Lys) c.7855G>A (p.Glu2619Lys) n.1784G>A c.7984G>A (p.Glu2662Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489940G>C | CA347266732 | ALMS1 | c.7600G>C (p.Glu2534Gln) c.992G>C c.5052G>C c.2047G>C (p.Glu683Gln) c.7981G>C (p.Glu2661Gln) c.896-29835G>C c.2812G>C (p.Glu938Gln) c.7855G>C (p.Glu2619Gln) n.1784G>C c.7984G>C (p.Glu2662Gln) | |
2 | g.73489940G= | CA1260981225 | ALMS1 | c.7600G= (p.Glu2534=) c.992G= c.5052G= c.2047G= (p.Glu683=) c.7981G= (p.Glu2661=) c.896-29835G= c.2812G= (p.Glu938=) c.7855G= (p.Glu2619=) n.1784G= c.7984G= (p.Glu2662=) | |
2 | g.73489940G>T | CA347266731 | ALMS1 | c.7600G>T (p.Glu2534Ter) c.992G>T c.5052G>T c.2047G>T (p.Glu683Ter) c.7981G>T (p.Glu2661Ter) c.896-29835G>T c.2812G>T (p.Glu938Ter) c.7855G>T (p.Glu2619Ter) n.1784G>T c.7984G>T (p.Glu2662Ter) | |
2 | g.73489941A>C | CA347266733 | ALMS1 | c.7601A>C (p.Glu2534Ala) c.993A>C c.5053A>C c.2048A>C (p.Glu683Ala) c.7982A>C (p.Glu2661Ala) c.896-29834A>C c.2813A>C (p.Glu938Ala) c.7856A>C (p.Glu2619Ala) n.1785A>C c.7985A>C (p.Glu2662Ala) | |
2 | g.73489941A>G | CA347266734 | ALMS1 | c.7601A>G (p.Glu2534Gly) c.993A>G c.5053A>G c.2048A>G (p.Glu683Gly) c.7982A>G (p.Glu2661Gly) c.896-29834A>G c.2813A>G (p.Glu938Gly) c.7856A>G (p.Glu2619Gly) n.1785A>G c.7985A>G (p.Glu2662Gly) | |
2 | g.73489941A>T | CA347266735 | ALMS1 | c.7601A>T (p.Glu2534Val) c.993A>T c.5053A>T c.2048A>T (p.Glu683Val) c.7982A>T (p.Glu2661Val) c.896-29834A>T c.2813A>T (p.Glu938Val) c.7856A>T (p.Glu2619Val) n.1785A>T c.7985A>T (p.Glu2662Val) | |
2 | g.73489942A= | CA1260981226 | ALMS1 | c.7602A= (p.Glu2534=) c.994A= c.5054A= c.2049A= (p.Glu683=) c.7983A= (p.Glu2661=) c.896-29833A= c.2814A= (p.Glu938=) c.7857A= (p.Glu2619=) n.1786A= c.7986A= (p.Glu2662=) | |
2 | g.73489942A>C | CA347266737 | ALMS1 | c.7602A>C (p.Glu2534Asp) c.994A>C c.5054A>C c.2049A>C (p.Glu683Asp) c.7983A>C (p.Glu2661Asp) c.896-29833A>C c.2814A>C (p.Glu938Asp) c.7857A>C (p.Glu2619Asp) n.1786A>C c.7986A>C (p.Glu2662Asp) | |
2 | g.73489942A>G | CA427000720 | ALMS1 | c.7602A>G (p.Glu2534=) c.994A>G c.5054A>G c.2049A>G (p.Glu683=) c.7983A>G (p.Glu2661=) c.896-29833A>G c.2814A>G (p.Glu938=) c.7857A>G (p.Glu2619=) n.1786A>G c.7986A>G (p.Glu2662=) | gnomAD v4 |
2 | g.73489942A>T | CA347266739 | ALMS1 | c.7602A>T (p.Glu2534Asp) c.994A>T c.5054A>T c.2049A>T (p.Glu683Asp) c.7983A>T (p.Glu2661Asp) c.896-29833A>T c.2814A>T (p.Glu938Asp) c.7857A>T (p.Glu2619Asp) n.1786A>T c.7986A>T (p.Glu2662Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489943T>A | CA347266743 | ALMS1 | c.7603T>A (p.Phe2535Ile) c.995T>A c.5055T>A c.2050T>A (p.Phe684Ile) c.7984T>A (p.Phe2662Ile) c.896-29832T>A c.2815T>A (p.Phe939Ile) c.7858T>A (p.Phe2620Ile) n.1787T>A c.7987T>A (p.Phe2663Ile) | dbSNP gnomAD v4 |
2 | g.73489943T>C | CA347266750 | ALMS1 | c.7603T>C (p.Phe2535Leu) c.995T>C c.5055T>C c.2050T>C (p.Phe684Leu) c.7984T>C (p.Phe2662Leu) c.896-29832T>C c.2815T>C (p.Phe939Leu) c.7858T>C (p.Phe2620Leu) n.1787T>C c.7987T>C (p.Phe2663Leu) | |
2 | g.73489943T>G | CA347266754 | ALMS1 | c.7603T>G (p.Phe2535Val) c.995T>G c.5055T>G c.2050T>G (p.Phe684Val) c.7984T>G (p.Phe2662Val) c.896-29832T>G c.2815T>G (p.Phe939Val) c.7858T>G (p.Phe2620Val) n.1787T>G c.7987T>G (p.Phe2663Val) | |
2 | g.73489943T= | CA1260981227 | ALMS1 | c.7603T= (p.Phe2535=) c.995T= c.5055T= c.2050T= (p.Phe684=) c.7984T= (p.Phe2662=) c.896-29832T= c.2815T= (p.Phe939=) c.7858T= (p.Phe2620=) n.1787T= c.7987T= (p.Phe2663=) | |
2 | g.73489944T>A | CA347266759 | ALMS1 | c.7604T>A (p.Phe2535Tyr) c.996T>A c.5056T>A c.2051T>A (p.Phe684Tyr) c.7985T>A (p.Phe2662Tyr) c.896-29831T>A c.2816T>A (p.Phe939Tyr) c.7859T>A (p.Phe2620Tyr) n.1788T>A c.7988T>A (p.Phe2663Tyr) | |
2 | g.73489944T>C | CA347266761 | ALMS1 | c.7604T>C (p.Phe2535Ser) c.996T>C c.5056T>C c.2051T>C (p.Phe684Ser) c.7985T>C (p.Phe2662Ser) c.896-29831T>C c.2816T>C (p.Phe939Ser) c.7859T>C (p.Phe2620Ser) n.1788T>C c.7988T>C (p.Phe2663Ser) | |
2 | g.73489944T>G | CA347266763 | ALMS1 | c.7604T>G (p.Phe2535Cys) c.996T>G c.5056T>G c.2051T>G (p.Phe684Cys) c.7985T>G (p.Phe2662Cys) c.896-29831T>G c.2816T>G (p.Phe939Cys) c.7859T>G (p.Phe2620Cys) n.1788T>G c.7988T>G (p.Phe2663Cys) | |
2 | g.73489945C>A | CA347266769 | ALMS1 | c.7605C>A (p.Phe2535Leu) c.997C>A c.5057C>A c.2052C>A (p.Phe684Leu) c.7986C>A (p.Phe2662Leu) c.896-29830C>A c.2817C>A (p.Phe939Leu) c.7860C>A (p.Phe2620Leu) n.1789C>A c.7989C>A (p.Phe2663Leu) | |
2 | g.73489945C= | CA1260981228 | ALMS1 | c.7605C= (p.Phe2535=) c.997C= c.5057C= c.2052C= (p.Phe684=) c.7986C= (p.Phe2662=) c.896-29830C= c.2817C= (p.Phe939=) c.7860C= (p.Phe2620=) n.1789C= c.7989C= (p.Phe2663=) | |
2 | g.73489945C>G | CA347266766 | ALMS1 | c.7605C>G (p.Phe2535Leu) c.997C>G c.5057C>G c.2052C>G (p.Phe684Leu) c.7986C>G (p.Phe2662Leu) c.896-29830C>G c.2817C>G (p.Phe939Leu) c.7860C>G (p.Phe2620Leu) n.1789C>G c.7989C>G (p.Phe2663Leu) | dbSNP |
2 | g.73489945C>T | CA427000721 | ALMS1 | c.7605C>T (p.Phe2535=) c.997C>T c.5057C>T c.2052C>T (p.Phe684=) c.7986C>T (p.Phe2662=) c.896-29830C>T c.2817C>T (p.Phe939=) c.7860C>T (p.Phe2620=) n.1789C>T c.7989C>T (p.Phe2663=) | ClinVar dbSNP gnomAD v4 |
2 | g.73489946A>C | CA347266772 | ALMS1 | c.7606A>C (p.Lys2536Gln) c.998A>C c.5058A>C c.2053A>C (p.Lys685Gln) c.7987A>C (p.Lys2663Gln) c.896-29829A>C c.2818A>C (p.Lys940Gln) c.7861A>C (p.Lys2621Gln) n.1790A>C c.7990A>C (p.Lys2664Gln) | gnomAD v4 |
2 | g.73489946A>G | CA347266775 | ALMS1 | c.7606A>G (p.Lys2536Glu) c.998A>G c.5058A>G c.2053A>G (p.Lys685Glu) c.7987A>G (p.Lys2663Glu) c.896-29829A>G c.2818A>G (p.Lys940Glu) c.7861A>G (p.Lys2621Glu) n.1790A>G c.7990A>G (p.Lys2664Glu) | |
2 | g.73489946A>T | CA347266779 | ALMS1 | c.7606A>T (p.Lys2536Ter) c.998A>T c.5058A>T c.2053A>T (p.Lys685Ter) c.7987A>T (p.Lys2663Ter) c.896-29829A>T c.2818A>T (p.Lys940Ter) c.7861A>T (p.Lys2621Ter) n.1790A>T c.7990A>T (p.Lys2664Ter) | |
2 | g.73489947A>C | CA347266782 | ALMS1 | c.7607A>C (p.Lys2536Thr) c.999A>C c.5059A>C c.2054A>C (p.Lys685Thr) c.7988A>C (p.Lys2663Thr) c.896-29828A>C c.2819A>C (p.Lys940Thr) c.7862A>C (p.Lys2621Thr) n.1791A>C c.7991A>C (p.Lys2664Thr) | |
2 | g.73489947A>G | CA347266784 | ALMS1 | c.7607A>G (p.Lys2536Arg) c.999A>G c.5059A>G c.2054A>G (p.Lys685Arg) c.7988A>G (p.Lys2663Arg) c.896-29828A>G c.2819A>G (p.Lys940Arg) c.7862A>G (p.Lys2621Arg) n.1791A>G c.7991A>G (p.Lys2664Arg) | |
2 | g.73489947A>T | CA347266786 | ALMS1 | c.7607A>T (p.Lys2536Ile) c.999A>T c.5059A>T c.2054A>T (p.Lys685Ile) c.7988A>T (p.Lys2663Ile) c.896-29828A>T c.2819A>T (p.Lys940Ile) c.7862A>T (p.Lys2621Ile) n.1791A>T c.7991A>T (p.Lys2664Ile) | |
2 | g.73489948A= | CA1260981229 | ALMS1 | c.7608A= (p.Lys2536=) c.1000A= c.5060A= c.2055A= (p.Lys685=) c.7989A= (p.Lys2663=) c.896-29827A= c.2820A= (p.Lys940=) c.7863A= (p.Lys2621=) n.1792A= c.7992A= (p.Lys2664=) | |
2 | g.73489948A>C | CA347266787 | ALMS1 | c.7608A>C (p.Lys2536Asn) c.1000A>C c.5060A>C c.2055A>C (p.Lys685Asn) c.7989A>C (p.Lys2663Asn) c.896-29827A>C c.2820A>C (p.Lys940Asn) c.7863A>C (p.Lys2621Asn) n.1792A>C c.7992A>C (p.Lys2664Asn) | |
2 | g.73489948A>G | CA427000722 | ALMS1 | c.7608A>G (p.Lys2536=) c.1000A>G c.5060A>G c.2055A>G (p.Lys685=) c.7989A>G (p.Lys2663=) c.896-29827A>G c.2820A>G (p.Lys940=) c.7863A>G (p.Lys2621=) n.1792A>G c.7992A>G (p.Lys2664=) | |
2 | g.73489948A>T | CA1714386 | ALMS1 | c.7608A>T (p.Lys2536Asn) c.1000A>T c.5060A>T c.2055A>T (p.Lys685Asn) c.7989A>T (p.Lys2663Asn) c.896-29827A>T c.2820A>T (p.Lys940Asn) c.7863A>T (p.Lys2621Asn) n.1792A>T c.7992A>T (p.Lys2664Asn) | dbSNP ExAC gnomAD v2 |
2 | g.73489949A= | CA1260981230 | ALMS1 | c.7609A= (p.Ile2537=) c.1001A= c.5061A= c.2056A= (p.Ile686=) c.7990A= (p.Ile2664=) c.896-29826A= c.2821A= (p.Ile941=) c.7864A= (p.Ile2622=) n.1793A= c.7993A= (p.Ile2665=) | |
2 | g.73489949A>C | CA347266791 | ALMS1 | c.7609A>C (p.Ile2537Leu) c.1001A>C c.5061A>C c.2056A>C (p.Ile686Leu) c.7990A>C (p.Ile2664Leu) c.896-29826A>C c.2821A>C (p.Ile941Leu) c.7864A>C (p.Ile2622Leu) n.1793A>C c.7993A>C (p.Ile2665Leu) | |
2 | g.73489949A>G | CA347266793 | ALMS1 | c.7609A>G (p.Ile2537Val) c.1001A>G c.5061A>G c.2056A>G (p.Ile686Val) c.7990A>G (p.Ile2664Val) c.896-29826A>G c.2821A>G (p.Ile941Val) c.7864A>G (p.Ile2622Val) n.1793A>G c.7993A>G (p.Ile2665Val) | dbSNP gnomAD v4 |
2 | g.73489949A>T | CA347266795 | ALMS1 | c.7609A>T (p.Ile2537Phe) c.1001A>T c.5061A>T c.2056A>T (p.Ile686Phe) c.7990A>T (p.Ile2664Phe) c.896-29826A>T c.2821A>T (p.Ile941Phe) c.7864A>T (p.Ile2622Phe) n.1793A>T c.7993A>T (p.Ile2665Phe) | |
2 | g.73489950T>A | CA347266797 | ALMS1 | c.7610T>A (p.Ile2537Asn) c.1002T>A c.5062T>A c.2057T>A (p.Ile686Asn) c.7991T>A (p.Ile2664Asn) c.896-29825T>A c.2822T>A (p.Ile941Asn) c.7865T>A (p.Ile2622Asn) n.1794T>A c.7994T>A (p.Ile2665Asn) | |
2 | g.73489950T>C | CA347266799 | ALMS1 | c.7610T>C (p.Ile2537Thr) c.1002T>C c.5062T>C c.2057T>C (p.Ile686Thr) c.7991T>C (p.Ile2664Thr) c.896-29825T>C c.2822T>C (p.Ile941Thr) c.7865T>C (p.Ile2622Thr) n.1794T>C c.7994T>C (p.Ile2665Thr) | |
2 | g.73489950T>G | CA347266801 | ALMS1 | c.7610T>G (p.Ile2537Ser) c.1002T>G c.5062T>G c.2057T>G (p.Ile686Ser) c.7991T>G (p.Ile2664Ser) c.896-29825T>G c.2822T>G (p.Ile941Ser) c.7865T>G (p.Ile2622Ser) n.1794T>G c.7994T>G (p.Ile2665Ser) | |
2 | g.73489951C>A | CA427000723 | ALMS1 | c.7611C>A (p.Ile2537=) c.1003C>A c.5063C>A c.2058C>A (p.Ile686=) c.7992C>A (p.Ile2664=) c.896-29824C>A c.2823C>A (p.Ile941=) c.7866C>A (p.Ile2622=) n.1795C>A c.7995C>A (p.Ile2665=) | |
2 | g.73489951C>G | CA347266802 | ALMS1 | c.7611C>G (p.Ile2537Met) c.1003C>G c.5063C>G c.2058C>G (p.Ile686Met) c.7992C>G (p.Ile2664Met) c.896-29824C>G c.2823C>G (p.Ile941Met) c.7866C>G (p.Ile2622Met) n.1795C>G c.7995C>G (p.Ile2665Met) | |
2 | g.73489951C>T | CA427000724 | ALMS1 | c.7611C>T (p.Ile2537=) c.1003C>T c.5063C>T c.2058C>T (p.Ile686=) c.7992C>T (p.Ile2664=) c.896-29824C>T c.2823C>T (p.Ile941=) c.7866C>T (p.Ile2622=) n.1795C>T c.7995C>T (p.Ile2665=) | gnomAD v4 |
2 | g.73489952A>C | CA347266803 | ALMS1 | c.7612A>C (p.Ser2538Arg) c.1004A>C c.5064A>C c.2059A>C (p.Ser687Arg) c.7993A>C (p.Ser2665Arg) c.896-29823A>C c.2824A>C (p.Ser942Arg) c.7867A>C (p.Ser2623Arg) n.1796A>C c.7996A>C (p.Ser2666Arg) | |
2 | g.73489952A>G | CA347266807 | ALMS1 | c.7612A>G (p.Ser2538Gly) c.1004A>G c.5064A>G c.2059A>G (p.Ser687Gly) c.7993A>G (p.Ser2665Gly) c.896-29823A>G c.2824A>G (p.Ser942Gly) c.7867A>G (p.Ser2623Gly) n.1796A>G c.7996A>G (p.Ser2666Gly) | |
2 | g.73489952A>T | CA347266809 | ALMS1 | c.7612A>T (p.Ser2538Cys) c.1004A>T c.5064A>T c.2059A>T (p.Ser687Cys) c.7993A>T (p.Ser2665Cys) c.896-29823A>T c.2824A>T (p.Ser942Cys) c.7867A>T (p.Ser2623Cys) n.1796A>T c.7996A>T (p.Ser2666Cys) | |
2 | g.73489953G>A | CA347266812 | ALMS1 | c.7613G>A (p.Ser2538Asn) c.1005G>A c.5065G>A c.2060G>A (p.Ser687Asn) c.7994G>A (p.Ser2665Asn) c.896-29822G>A c.2825G>A (p.Ser942Asn) c.7868G>A (p.Ser2623Asn) n.1797G>A c.7997G>A (p.Ser2666Asn) | dbSNP |
2 | g.73489953G>C | CA347266815 | ALMS1 | c.7613G>C (p.Ser2538Thr) c.1005G>C c.5065G>C c.2060G>C (p.Ser687Thr) c.7994G>C (p.Ser2665Thr) c.896-29822G>C c.2825G>C (p.Ser942Thr) c.7868G>C (p.Ser2623Thr) n.1797G>C c.7997G>C (p.Ser2666Thr) | ClinVar dbSNP |
2 | g.73489953G= | CA1260981231 | ALMS1 | c.7613G= (p.Ser2538=) c.1005G= c.5065G= c.2060G= (p.Ser687=) c.7994G= (p.Ser2665=) c.896-29822G= c.2825G= (p.Ser942=) c.7868G= (p.Ser2623=) n.1797G= c.7997G= (p.Ser2666=) | |
2 | g.73489953G>T | CA347266817 | ALMS1 | c.7613G>T (p.Ser2538Ile) c.1005G>T c.5065G>T c.2060G>T (p.Ser687Ile) c.7994G>T (p.Ser2665Ile) c.896-29822G>T c.2825G>T (p.Ser942Ile) c.7868G>T (p.Ser2623Ile) n.1797G>T c.7997G>T (p.Ser2666Ile) | |
2 | g.73489954C>A | CA347266819 | ALMS1 | c.7614C>A (p.Ser2538Arg) c.1006C>A c.5066C>A c.2061C>A (p.Ser687Arg) c.7995C>A (p.Ser2665Arg) c.896-29821C>A c.2826C>A (p.Ser942Arg) c.7869C>A (p.Ser2623Arg) n.1798C>A c.7998C>A (p.Ser2666Arg) | |
2 | g.73489954C>G | CA347266821 | ALMS1 | c.7614C>G (p.Ser2538Arg) c.1006C>G c.5066C>G c.2061C>G (p.Ser687Arg) c.7995C>G (p.Ser2665Arg) c.896-29821C>G c.2826C>G (p.Ser942Arg) c.7869C>G (p.Ser2623Arg) n.1798C>G c.7998C>G (p.Ser2666Arg) | |
2 | g.73489954C>T | CA427000725 | ALMS1 | c.7614C>T (p.Ser2538=) c.1006C>T c.5066C>T c.2061C>T (p.Ser687=) c.7995C>T (p.Ser2665=) c.896-29821C>T c.2826C>T (p.Ser942=) c.7869C>T (p.Ser2623=) n.1798C>T c.7998C>T (p.Ser2666=) | |
2 | g.73489955A= | CA1260981232 | ALMS1 | c.7615A= (p.Lys2539=) c.1007A= c.5067A= c.2062A= (p.Lys688=) c.7996A= (p.Lys2666=) c.896-29820A= c.2827A= (p.Lys943=) c.7870A= (p.Lys2624=) n.1799A= c.7999A= (p.Lys2667=) | |
2 | g.73489955A>C | CA347266824 | ALMS1 | c.7615A>C (p.Lys2539Gln) c.1007A>C c.5067A>C c.2062A>C (p.Lys688Gln) c.7996A>C (p.Lys2666Gln) c.896-29820A>C c.2827A>C (p.Lys943Gln) c.7870A>C (p.Lys2624Gln) n.1799A>C c.7999A>C (p.Lys2667Gln) | |
2 | g.73489955A>G | CA347266825 | ALMS1 | c.7615A>G (p.Lys2539Glu) c.1007A>G c.5067A>G c.2062A>G (p.Lys688Glu) c.7996A>G (p.Lys2666Glu) c.896-29820A>G c.2827A>G (p.Lys943Glu) c.7870A>G (p.Lys2624Glu) n.1799A>G c.7999A>G (p.Lys2667Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489955A>T | CA347266826 | ALMS1 | c.7615A>T (p.Lys2539Ter) c.1007A>T c.5067A>T c.2062A>T (p.Lys688Ter) c.7996A>T (p.Lys2666Ter) c.896-29820A>T c.2827A>T (p.Lys943Ter) c.7870A>T (p.Lys2624Ter) n.1799A>T c.7999A>T (p.Lys2667Ter) | |
2 | g.73489957dup | CA913090801 | ALMS1 | c.7617dup (p.Gly2540ArgfsTer8) c.1009dup c.5069dup c.2064dup (p.Gly689ArgfsTer8) c.7998dup (p.Gly2667ArgfsTer8) c.896-29818dup c.2829dup (p.Gly944ArgfsTer8) c.7872dup (p.Gly2625ArgfsTer8) n.1801dup c.8001dup (p.Gly2668ArgfsTer8) | |
2 | g.73489956A>C | CA347266829 | ALMS1 | c.7616A>C (p.Lys2539Thr) c.1008A>C c.5068A>C c.2063A>C (p.Lys688Thr) c.7997A>C (p.Lys2666Thr) c.896-29819A>C c.2828A>C (p.Lys943Thr) c.7871A>C (p.Lys2624Thr) n.1800A>C c.8000A>C (p.Lys2667Thr) | ClinVar dbSNP |
2 | g.73489956A>G | CA347266832 | ALMS1 | c.7616A>G (p.Lys2539Arg) c.1008A>G c.5068A>G c.2063A>G (p.Lys688Arg) c.7997A>G (p.Lys2666Arg) c.896-29819A>G c.2828A>G (p.Lys943Arg) c.7871A>G (p.Lys2624Arg) n.1800A>G c.8000A>G (p.Lys2667Arg) | gnomAD v4 |
2 | g.73489956A>T | CA347266835 | ALMS1 | c.7616A>T (p.Lys2539Ile) c.1008A>T c.5068A>T c.2063A>T (p.Lys688Ile) c.7997A>T (p.Lys2666Ile) c.896-29819A>T c.2828A>T (p.Lys943Ile) c.7871A>T (p.Lys2624Ile) n.1800A>T c.8000A>T (p.Lys2667Ile) | |
2 | g.73489957_73489972dup | CA658821972 | ALMS1 | c.7617_7632dup (p.Phe2545ArgfsTer8) c.1009_1024dup c.5069_5084dup c.2064_2079dup (p.Phe694ArgfsTer8) c.7998_8013dup (p.Phe2672ArgfsTer8) c.896-29818_896-29803dup c.2829_2844dup (p.Phe949ArgfsTer8) c.7872_7887dup (p.Phe2630ArgfsTer8) n.1801_1816dup c.8001_8016dup (p.Phe2673ArgfsTer8) | ClinVar dbSNP |
2 | g.73489957A>C | CA347266840 | ALMS1 | c.7617A>C (p.Lys2539Asn) c.1009A>C c.5069A>C c.2064A>C (p.Lys688Asn) c.7998A>C (p.Lys2666Asn) c.896-29818A>C c.2829A>C (p.Lys943Asn) c.7872A>C (p.Lys2624Asn) n.1801A>C c.8001A>C (p.Lys2667Asn) | |
2 | g.73489957A>G | CA427000726 | ALMS1 | c.7617A>G (p.Lys2539=) c.1009A>G c.5069A>G c.2064A>G (p.Lys688=) c.7998A>G (p.Lys2666=) c.896-29818A>G c.2829A>G (p.Lys943=) c.7872A>G (p.Lys2624=) n.1801A>G c.8001A>G (p.Lys2667=) | ClinVar |
2 | g.73489957A>T | CA347266837 | ALMS1 | c.7617A>T (p.Lys2539Asn) c.1009A>T c.5069A>T c.2064A>T (p.Lys688Asn) c.7998A>T (p.Lys2666Asn) c.896-29818A>T c.2829A>T (p.Lys943Asn) c.7872A>T (p.Lys2624Asn) n.1801A>T c.8001A>T (p.Lys2667Asn) | |
2 | g.73489958G>A | CA347266842 | ALMS1 | c.7618G>A (p.Gly2540Ser) c.1010G>A c.5070G>A c.2065G>A (p.Gly689Ser) c.7999G>A (p.Gly2667Ser) c.896-29817G>A c.2830G>A (p.Gly944Ser) c.7873G>A (p.Gly2625Ser) n.1802G>A c.8002G>A (p.Gly2668Ser) | |
2 | g.73489958G>C | CA347266847 | ALMS1 | c.7618G>C (p.Gly2540Arg) c.1010G>C c.5070G>C c.2065G>C (p.Gly689Arg) c.7999G>C (p.Gly2667Arg) c.896-29817G>C c.2830G>C (p.Gly944Arg) c.7873G>C (p.Gly2625Arg) n.1802G>C c.8002G>C (p.Gly2668Arg) | ClinVar |
2 | g.73489958G>T | CA347266845 | ALMS1 | c.7618G>T (p.Gly2540Cys) c.1010G>T c.5070G>T c.2065G>T (p.Gly689Cys) c.7999G>T (p.Gly2667Cys) c.896-29817G>T c.2830G>T (p.Gly944Cys) c.7873G>T (p.Gly2625Cys) n.1802G>T c.8002G>T (p.Gly2668Cys) | |
2 | g.73489959G>A | CA347266848 | ALMS1 | c.7619G>A (p.Gly2540Asp) c.1011G>A c.5071G>A c.2066G>A (p.Gly689Asp) c.8000G>A (p.Gly2667Asp) c.896-29816G>A c.2831G>A (p.Gly944Asp) c.7874G>A (p.Gly2625Asp) n.1803G>A c.8003G>A (p.Gly2668Asp) | gnomAD v4 |
2 | g.73489959G>C | CA347266850 | ALMS1 | c.7619G>C (p.Gly2540Ala) c.1011G>C c.5071G>C c.2066G>C (p.Gly689Ala) c.8000G>C (p.Gly2667Ala) c.896-29816G>C c.2831G>C (p.Gly944Ala) c.7874G>C (p.Gly2625Ala) n.1803G>C c.8003G>C (p.Gly2668Ala) | |
2 | g.73489959G>T | CA347266849 | ALMS1 | c.7619G>T (p.Gly2540Val) c.1011G>T c.5071G>T c.2066G>T (p.Gly689Val) c.8000G>T (p.Gly2667Val) c.896-29816G>T c.2831G>T (p.Gly944Val) c.7874G>T (p.Gly2625Val) n.1803G>T c.8003G>T (p.Gly2668Val) | |
2 | g.73489960T>A | CA427000727 | ALMS1 | c.7620T>A (p.Gly2540=) c.1012T>A c.5072T>A c.2067T>A (p.Gly689=) c.8001T>A (p.Gly2667=) c.896-29815T>A c.2832T>A (p.Gly944=) c.7875T>A (p.Gly2625=) n.1804T>A c.8004T>A (p.Gly2668=) | gnomAD v4 |
2 | g.73489960T>C | CA427000728 | ALMS1 | c.7620T>C (p.Gly2540=) c.1012T>C c.5072T>C c.2067T>C (p.Gly689=) c.8001T>C (p.Gly2667=) c.896-29815T>C c.2832T>C (p.Gly944=) c.7875T>C (p.Gly2625=) n.1804T>C c.8004T>C (p.Gly2668=) | |
2 | g.73489960T>G | CA427000729 | ALMS1 | c.7620T>G (p.Gly2540=) c.1012T>G c.5072T>G c.2067T>G (p.Gly689=) c.8001T>G (p.Gly2667=) c.896-29815T>G c.2832T>G (p.Gly944=) c.7875T>G (p.Gly2625=) n.1804T>G c.8004T>G (p.Gly2668=) | |
2 | g.73489961C>A | CA347266852 | ALMS1 | c.7621C>A (p.Leu2541Ile) c.1013C>A c.5073C>A c.2068C>A (p.Leu690Ile) c.8002C>A (p.Leu2668Ile) c.896-29814C>A c.2833C>A (p.Leu945Ile) c.7876C>A (p.Leu2626Ile) n.1805C>A c.8005C>A (p.Leu2669Ile) | |
2 | g.73489961C>G | CA347266856 | ALMS1 | c.7621C>G (p.Leu2541Val) c.1013C>G c.5073C>G c.2068C>G (p.Leu690Val) c.8002C>G (p.Leu2668Val) c.896-29814C>G c.2833C>G (p.Leu945Val) c.7876C>G (p.Leu2626Val) n.1805C>G c.8005C>G (p.Leu2669Val) | |
2 | g.73489961C>T | CA347266855 | ALMS1 | c.7621C>T (p.Leu2541Phe) c.1013C>T c.5073C>T c.2068C>T (p.Leu690Phe) c.8002C>T (p.Leu2668Phe) c.896-29814C>T c.2833C>T (p.Leu945Phe) c.7876C>T (p.Leu2626Phe) n.1805C>T c.8005C>T (p.Leu2669Phe) | ClinVar |
2 | g.73489962T>A | CA347266857 | ALMS1 | c.7622T>A (p.Leu2541His) c.1014T>A c.5074T>A c.2069T>A (p.Leu690His) c.8003T>A (p.Leu2668His) c.896-29813T>A c.2834T>A (p.Leu945His) c.7877T>A (p.Leu2626His) n.1806T>A c.8006T>A (p.Leu2669His) | |
2 | g.73489962T>C | CA347266859 | ALMS1 | c.7622T>C (p.Leu2541Pro) c.1014T>C c.5074T>C c.2069T>C (p.Leu690Pro) c.8003T>C (p.Leu2668Pro) c.896-29813T>C c.2834T>C (p.Leu945Pro) c.7877T>C (p.Leu2626Pro) n.1806T>C c.8006T>C (p.Leu2669Pro) | |
2 | g.73489962T>G | CA347266858 | ALMS1 | c.7622T>G (p.Leu2541Arg) c.1014T>G c.5074T>G c.2069T>G (p.Leu690Arg) c.8003T>G (p.Leu2668Arg) c.896-29813T>G c.2834T>G (p.Leu945Arg) c.7877T>G (p.Leu2626Arg) n.1806T>G c.8006T>G (p.Leu2669Arg) | |
2 | g.73489963T>A | CA427000730 | ALMS1 | c.7623T>A (p.Leu2541=) c.1015T>A c.5075T>A c.2070T>A (p.Leu690=) c.8004T>A (p.Leu2668=) c.896-29812T>A c.2835T>A (p.Leu945=) c.7878T>A (p.Leu2626=) n.1807T>A c.8007T>A (p.Leu2669=) | |
2 | g.73489963T>C | CA427000731 | ALMS1 | c.7623T>C (p.Leu2541=) c.1015T>C c.5075T>C c.2070T>C (p.Leu690=) c.8004T>C (p.Leu2668=) c.896-29812T>C c.2835T>C (p.Leu945=) c.7878T>C (p.Leu2626=) n.1807T>C c.8007T>C (p.Leu2669=) | |
2 | g.73489963T>G | CA427000732 | ALMS1 | c.7623T>G (p.Leu2541=) c.1015T>G c.5075T>G c.2070T>G (p.Leu690=) c.8004T>G (p.Leu2668=) c.896-29812T>G c.2835T>G (p.Leu945=) c.7878T>G (p.Leu2626=) n.1807T>G c.8007T>G (p.Leu2669=) | |
2 | g.73489964C>A | CA427000733 | ALMS1 | c.7624C>A (p.Arg2542=) c.1016C>A c.5076C>A c.2071C>A (p.Arg691=) c.8005C>A (p.Arg2669=) c.896-29811C>A c.2836C>A (p.Arg946=) c.7879C>A (p.Arg2627=) n.1808C>A c.8008C>A (p.Arg2670=) | |
2 | g.73489964C= | CA1260981233 | ALMS1 | c.7624C= (p.Arg2542=) c.1016C= c.5076C= c.2071C= (p.Arg691=) c.8005C= (p.Arg2669=) c.896-29811C= c.2836C= (p.Arg946=) c.7879C= (p.Arg2627=) n.1808C= c.8008C= (p.Arg2670=) | |
2 | g.73489964C>G | CA1714387 | ALMS1 | c.7624C>G (p.Arg2542Gly) c.1016C>G c.5076C>G c.2071C>G (p.Arg691Gly) c.8005C>G (p.Arg2669Gly) c.896-29811C>G c.2836C>G (p.Arg946Gly) c.7879C>G (p.Arg2627Gly) n.1808C>G c.8008C>G (p.Arg2670Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489964C>T | CA347266861 | ALMS1 | c.7624C>T (p.Arg2542Ter) c.1016C>T c.5076C>T c.2071C>T (p.Arg691Ter) c.8005C>T (p.Arg2669Ter) c.896-29811C>T c.2836C>T (p.Arg946Ter) c.7879C>T (p.Arg2627Ter) n.1808C>T c.8008C>T (p.Arg2670Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.73489965G>A | CA50377816 | ALMS1 | c.7625G>A (p.Arg2542Gln) c.1017G>A c.5077G>A c.2072G>A (p.Arg691Gln) c.8006G>A (p.Arg2669Gln) c.896-29810G>A c.2837G>A (p.Arg946Gln) c.7880G>A (p.Arg2627Gln) n.1809G>A c.8009G>A (p.Arg2670Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489965G>C | CA347266866 | ALMS1 | c.7625G>C (p.Arg2542Pro) c.1017G>C c.5077G>C c.2072G>C (p.Arg691Pro) c.8006G>C (p.Arg2669Pro) c.896-29810G>C c.2837G>C (p.Arg946Pro) c.7880G>C (p.Arg2627Pro) n.1809G>C c.8009G>C (p.Arg2670Pro) | |
2 | g.73489965G= | CA1260981234 | ALMS1 | c.7625G= (p.Arg2542=) c.1017G= c.5077G= c.2072G= (p.Arg691=) c.8006G= (p.Arg2669=) c.896-29810G= c.2837G= (p.Arg946=) c.7880G= (p.Arg2627=) n.1809G= c.8009G= (p.Arg2670=) | |
2 | g.73489965G>T | CA347266863 | ALMS1 | c.7625G>T (p.Arg2542Leu) c.1017G>T c.5077G>T c.2072G>T (p.Arg691Leu) c.8006G>T (p.Arg2669Leu) c.896-29810G>T c.2837G>T (p.Arg946Leu) c.7880G>T (p.Arg2627Leu) n.1809G>T c.8009G>T (p.Arg2670Leu) | |
2 | g.73489966A>C | CA427000734 | ALMS1 | c.7626A>C (p.Arg2542=) c.1018A>C c.5078A>C c.2073A>C (p.Arg691=) c.8007A>C (p.Arg2669=) c.896-29809A>C c.2838A>C (p.Arg946=) c.7881A>C (p.Arg2627=) n.1810A>C c.8010A>C (p.Arg2670=) | |
2 | g.73489966A>G | CA427000736 | ALMS1 | c.7626A>G (p.Arg2542=) c.1018A>G c.5078A>G c.2073A>G (p.Arg691=) c.8007A>G (p.Arg2669=) c.896-29809A>G c.2838A>G (p.Arg946=) c.7881A>G (p.Arg2627=) n.1810A>G c.8010A>G (p.Arg2670=) | |
2 | g.73489966A>T | CA427000735 | ALMS1 | c.7626A>T (p.Arg2542=) c.1018A>T c.5078A>T c.2073A>T (p.Arg691=) c.8007A>T (p.Arg2669=) c.896-29809A>T c.2838A>T (p.Arg946=) c.7881A>T (p.Arg2627=) n.1810A>T c.8010A>T (p.Arg2670=) | |
2 | g.73489967A>C | CA347266868 | ALMS1 | c.7627A>C (p.Met2543Leu) c.1019A>C c.5079A>C c.2074A>C (p.Met692Leu) c.8008A>C (p.Met2670Leu) c.896-29808A>C c.2839A>C (p.Met947Leu) c.7882A>C (p.Met2628Leu) n.1811A>C c.8011A>C (p.Met2671Leu) | |
2 | g.73489967A>G | CA347266871 | ALMS1 | c.7627A>G (p.Met2543Val) c.1019A>G c.5079A>G c.2074A>G (p.Met692Val) c.8008A>G (p.Met2670Val) c.896-29808A>G c.2839A>G (p.Met947Val) c.7882A>G (p.Met2628Val) n.1811A>G c.8011A>G (p.Met2671Val) | |
2 | g.73489967A>T | CA347266872 | ALMS1 | c.7627A>T (p.Met2543Leu) c.1019A>T c.5079A>T c.2074A>T (p.Met692Leu) c.8008A>T (p.Met2670Leu) c.896-29808A>T c.2839A>T (p.Met947Leu) c.7882A>T (p.Met2628Leu) n.1811A>T c.8011A>T (p.Met2671Leu) | |
2 | g.73489968T>A | CA347266875 | ALMS1 | c.7628T>A (p.Met2543Lys) c.1020T>A c.5080T>A c.2075T>A (p.Met692Lys) c.8009T>A (p.Met2670Lys) c.896-29807T>A c.2840T>A (p.Met947Lys) c.7883T>A (p.Met2628Lys) n.1812T>A c.8012T>A (p.Met2671Lys) | |
2 | g.73489968T>C | CA347266877 | ALMS1 | c.7628T>C (p.Met2543Thr) c.1020T>C c.5080T>C c.2075T>C (p.Met692Thr) c.8009T>C (p.Met2670Thr) c.896-29807T>C c.2840T>C (p.Met947Thr) c.7883T>C (p.Met2628Thr) n.1812T>C c.8012T>C (p.Met2671Thr) | |
2 | g.73489968T>G | CA347266880 | ALMS1 | c.7628T>G (p.Met2543Arg) c.1020T>G c.5080T>G c.2075T>G (p.Met692Arg) c.8009T>G (p.Met2670Arg) c.896-29807T>G c.2840T>G (p.Met947Arg) c.7883T>G (p.Met2628Arg) n.1812T>G c.8012T>G (p.Met2671Arg) | |
2 | g.73489969G>A | CA347266882 | ALMS1 | c.7629G>A (p.Met2543Ile) c.1021G>A c.5081G>A c.2076G>A (p.Met692Ile) c.8010G>A (p.Met2670Ile) c.896-29806G>A c.2841G>A (p.Met947Ile) c.7884G>A (p.Met2628Ile) n.1813G>A c.8013G>A (p.Met2671Ile) | gnomAD v4 |
2 | g.73489969G>C | CA347266884 | ALMS1 | c.7629G>C (p.Met2543Ile) c.1021G>C c.5081G>C c.2076G>C (p.Met692Ile) c.8010G>C (p.Met2670Ile) c.896-29806G>C c.2841G>C (p.Met947Ile) c.7884G>C (p.Met2628Ile) n.1813G>C c.8013G>C (p.Met2671Ile) | |
2 | g.73489969G>T | CA347266887 | ALMS1 | c.7629G>T (p.Met2543Ile) c.1021G>T c.5081G>T c.2076G>T (p.Met692Ile) c.8010G>T (p.Met2670Ile) c.896-29806G>T c.2841G>T (p.Met947Ile) c.7884G>T (p.Met2628Ile) n.1813G>T c.8013G>T (p.Met2671Ile) | |
2 | g.73489970C>A | CA347266890 | ALMS1 | c.7630C>A (p.Pro2544Thr) c.1022C>A c.5082C>A c.2077C>A (p.Pro693Thr) c.8011C>A (p.Pro2671Thr) c.896-29805C>A c.2842C>A (p.Pro948Thr) c.7885C>A (p.Pro2629Thr) n.1814C>A c.8014C>A (p.Pro2672Thr) | dbSNP |
2 | g.73489970C>G | CA347266894 | ALMS1 | c.7630C>G (p.Pro2544Ala) c.1022C>G c.5082C>G c.2077C>G (p.Pro693Ala) c.8011C>G (p.Pro2671Ala) c.896-29805C>G c.2842C>G (p.Pro948Ala) c.7885C>G (p.Pro2629Ala) n.1814C>G c.8014C>G (p.Pro2672Ala) | gnomAD v4 |
2 | g.73489970C>T | CA347266895 | ALMS1 | c.7630C>T (p.Pro2544Ser) c.1022C>T c.5082C>T c.2077C>T (p.Pro693Ser) c.8011C>T (p.Pro2671Ser) c.896-29805C>T c.2842C>T (p.Pro948Ser) c.7885C>T (p.Pro2629Ser) n.1814C>T c.8014C>T (p.Pro2672Ser) | |
2 | g.73489971C>A | CA347266901 | ALMS1 | c.7631C>A (p.Pro2544Gln) c.1023C>A c.5083C>A c.2078C>A (p.Pro693Gln) c.8012C>A (p.Pro2671Gln) c.896-29804C>A c.2843C>A (p.Pro948Gln) c.7886C>A (p.Pro2629Gln) n.1815C>A c.8015C>A (p.Pro2672Gln) | |
2 | g.73489971C= | CA1260981235 | ALMS1 | c.7631C= (p.Pro2544=) c.1023C= c.5083C= c.2078C= (p.Pro693=) c.8012C= (p.Pro2671=) c.896-29804C= c.2843C= (p.Pro948=) c.7886C= (p.Pro2629=) n.1815C= c.8015C= (p.Pro2672=) | |
2 | g.73489971C>G | CA347266897 | ALMS1 | c.7631C>G (p.Pro2544Arg) c.1023C>G c.5083C>G c.2078C>G (p.Pro693Arg) c.8012C>G (p.Pro2671Arg) c.896-29804C>G c.2843C>G (p.Pro948Arg) c.7886C>G (p.Pro2629Arg) n.1815C>G c.8015C>G (p.Pro2672Arg) | |
2 | g.73489971C>T | CA50377826 | ALMS1 | c.7631C>T (p.Pro2544Leu) c.1023C>T c.5083C>T c.2078C>T (p.Pro693Leu) c.8012C>T (p.Pro2671Leu) c.896-29804C>T c.2843C>T (p.Pro948Leu) c.7886C>T (p.Pro2629Leu) n.1815C>T c.8015C>T (p.Pro2672Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489972del | CA2750465614 | ALMS1 | c.7632del (p.Phe2545SerfsTer12) c.1024del c.5084del c.2079del (p.Phe694SerfsTer12) c.8013del (p.Phe2672SerfsTer12) c.896-29803del c.2844del (p.Phe949SerfsTer12) c.7887del (p.Phe2630SerfsTer12) n.1816del c.8016del (p.Phe2673SerfsTer12) | |
2 | g.73489972A= | CA1260981236 | ALMS1 | c.7632A= (p.Pro2544=) c.1024A= c.5084A= c.2079A= (p.Pro693=) c.8013A= (p.Pro2671=) c.896-29803A= c.2844A= (p.Pro948=) c.7887A= (p.Pro2629=) n.1816A= c.8016A= (p.Pro2672=) | |
2 | g.73489972A>C | CA427000737 | ALMS1 | c.7632A>C (p.Pro2544=) c.1024A>C c.5084A>C c.2079A>C (p.Pro693=) c.8013A>C (p.Pro2671=) c.896-29803A>C c.2844A>C (p.Pro948=) c.7887A>C (p.Pro2629=) n.1816A>C c.8016A>C (p.Pro2672=) | ClinVar dbSNP |
2 | g.73489972A>G | CA427000738 | ALMS1 | c.7632A>G (p.Pro2544=) c.1024A>G c.5084A>G c.2079A>G (p.Pro693=) c.8013A>G (p.Pro2671=) c.896-29803A>G c.2844A>G (p.Pro948=) c.7887A>G (p.Pro2629=) n.1816A>G c.8016A>G (p.Pro2672=) | dbSNP gnomAD v4 |
2 | g.73489972A>T | CA427000739 | ALMS1 | c.7632A>T (p.Pro2544=) c.1024A>T c.5084A>T c.2079A>T (p.Pro693=) c.8013A>T (p.Pro2671=) c.896-29803A>T c.2844A>T (p.Pro948=) c.7887A>T (p.Pro2629=) n.1816A>T c.8016A>T (p.Pro2672=) | |
2 | g.73489973T>A | CA347266906 | ALMS1 | c.7633T>A (p.Phe2545Ile) c.1025T>A c.5085T>A c.2080T>A (p.Phe694Ile) c.8014T>A (p.Phe2672Ile) c.896-29802T>A c.2845T>A (p.Phe949Ile) c.7888T>A (p.Phe2630Ile) n.1817T>A c.8017T>A (p.Phe2673Ile) | |
2 | g.73489973T>C | CA50377836 | ALMS1 | c.7633T>C (p.Phe2545Leu) c.1025T>C c.5085T>C c.2080T>C (p.Phe694Leu) c.8014T>C (p.Phe2672Leu) c.896-29802T>C c.2845T>C (p.Phe949Leu) c.7888T>C (p.Phe2630Leu) n.1817T>C c.8017T>C (p.Phe2673Leu) | dbSNP |
2 | g.73489973T>G | CA347266910 | ALMS1 | c.7633T>G (p.Phe2545Val) c.1025T>G c.5085T>G c.2080T>G (p.Phe694Val) c.8014T>G (p.Phe2672Val) c.896-29802T>G c.2845T>G (p.Phe949Val) c.7888T>G (p.Phe2630Val) n.1817T>G c.8017T>G (p.Phe2673Val) | |
2 | g.73489973T= | CA1260981237 | ALMS1 | c.7633T= (p.Phe2545=) c.1025T= c.5085T= c.2080T= (p.Phe694=) c.8014T= (p.Phe2672=) c.896-29802T= c.2845T= (p.Phe949=) c.7888T= (p.Phe2630=) n.1817T= c.8017T= (p.Phe2673=) | |
2 | g.73489974T>A | CA347266913 | ALMS1 | c.7634T>A (p.Phe2545Tyr) c.1026T>A c.5086T>A c.2081T>A (p.Phe694Tyr) c.8015T>A (p.Phe2672Tyr) c.896-29801T>A c.2846T>A (p.Phe949Tyr) c.7889T>A (p.Phe2630Tyr) n.1818T>A c.8018T>A (p.Phe2673Tyr) | |
2 | g.73489974T>C | CA347266915 | ALMS1 | c.7634T>C (p.Phe2545Ser) c.1026T>C c.5086T>C c.2081T>C (p.Phe694Ser) c.8015T>C (p.Phe2672Ser) c.896-29801T>C c.2846T>C (p.Phe949Ser) c.7889T>C (p.Phe2630Ser) n.1818T>C c.8018T>C (p.Phe2673Ser) | |
2 | g.73489974T>G | CA347266918 | ALMS1 | c.7634T>G (p.Phe2545Cys) c.1026T>G c.5086T>G c.2081T>G (p.Phe694Cys) c.8015T>G (p.Phe2672Cys) c.896-29801T>G c.2846T>G (p.Phe949Cys) c.7889T>G (p.Phe2630Cys) n.1818T>G c.8018T>G (p.Phe2673Cys) | |
2 | g.73489975C>A | CA347266921 | ALMS1 | c.7635C>A (p.Phe2545Leu) c.1027C>A c.5087C>A c.2082C>A (p.Phe694Leu) c.8016C>A (p.Phe2672Leu) c.896-29800C>A c.2847C>A (p.Phe949Leu) c.7890C>A (p.Phe2630Leu) n.1819C>A c.8019C>A (p.Phe2673Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489975C= | CA1260981238 | ALMS1 | c.7635C= (p.Phe2545=) c.1027C= c.5087C= c.2082C= (p.Phe694=) c.8016C= (p.Phe2672=) c.896-29800C= c.2847C= (p.Phe949=) c.7890C= (p.Phe2630=) n.1819C= c.8019C= (p.Phe2673=) | |
2 | g.73489975C>G | CA347266925 | ALMS1 | c.7635C>G (p.Phe2545Leu) c.1027C>G c.5087C>G c.2082C>G (p.Phe694Leu) c.8016C>G (p.Phe2672Leu) c.896-29800C>G c.2847C>G (p.Phe949Leu) c.7890C>G (p.Phe2630Leu) n.1819C>G c.8019C>G (p.Phe2673Leu) | gnomAD v4 |
2 | g.73489975C>T | CA1714388 | ALMS1 | c.7635C>T (p.Phe2545=) c.1027C>T c.5087C>T c.2082C>T (p.Phe694=) c.8016C>T (p.Phe2672=) c.896-29800C>T c.2847C>T (p.Phe949=) c.7890C>T (p.Phe2630=) n.1819C>T c.8019C>T (p.Phe2673=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489975_73489976insAATGCCA | CA2586969429 | ALMS1 | c.7635_7636insAATGCCA (p.Asp2546AsnfsTer4) c.1027_1028insAATGCCA c.5087_5088insAATGCCA c.2082_2083insAATGCCA (p.Asp695AsnfsTer4) c.8016_8017insAATGCCA (p.Asp2673AsnfsTer4) c.896-29800_896-29799insAATGCCA c.2847_2848insAATGCCA (p.Asp950AsnfsTer4) c.7890_7891insAATGCCA (p.Asp2631AsnfsTer4) n.1819_1820insAATGCCA c.8019_8020insAATGCCA (p.Asp2674AsnfsTer4) | |
2 | g.73489976G>A | CA1714390 | ALMS1 | c.7636G>A (p.Asp2546Asn) c.1028G>A c.5088G>A c.2083G>A (p.Asp695Asn) c.8017G>A (p.Asp2673Asn) c.896-29799G>A c.2848G>A (p.Asp950Asn) c.7891G>A (p.Asp2631Asn) n.1820G>A c.8020G>A (p.Asp2674Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489976G>C | CA1714389 | ALMS1 | c.7636G>C (p.Asp2546His) c.1028G>C c.5088G>C c.2083G>C (p.Asp695His) c.8017G>C (p.Asp2673His) c.896-29799G>C c.2848G>C (p.Asp950His) c.7891G>C (p.Asp2631His) n.1820G>C c.8020G>C (p.Asp2674His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489976G= | CA1260981239 | ALMS1 | c.7636G= (p.Asp2546=) c.1028G= c.5088G= c.2083G= (p.Asp695=) c.8017G= (p.Asp2673=) c.896-29799G= c.2848G= (p.Asp950=) c.7891G= (p.Asp2631=) n.1820G= c.8020G= (p.Asp2674=) | |
2 | g.73489976G>T | CA347266933 | ALMS1 | c.7636G>T (p.Asp2546Tyr) c.1028G>T c.5088G>T c.2083G>T (p.Asp695Tyr) c.8017G>T (p.Asp2673Tyr) c.896-29799G>T c.2848G>T (p.Asp950Tyr) c.7891G>T (p.Asp2631Tyr) n.1820G>T c.8020G>T (p.Asp2674Tyr) | dbSNP |
2 | g.73489976_73489977delinsCC | CA2573135756 | ALMS1 | c.7636_7637delinsCC (p.Asp2546Pro) c.1028_1029delinsCC c.5088_5089delinsCC c.2083_2084delinsCC (p.Asp695Pro) c.8017_8018delinsCC (p.Asp2673Pro) c.896-29799_896-29798delinsCC c.2848_2849delinsCC (p.Asp950Pro) c.7891_7892delinsCC (p.Asp2631Pro) n.1820_1821delinsCC c.8020_8021delinsCC (p.Asp2674Pro) | ClinVar dbSNP |
2 | g.73489977A= | CA1260981240 | ALMS1 | c.7637A= (p.Asp2546=) c.1029A= c.5089A= c.2084A= (p.Asp695=) c.8018A= (p.Asp2673=) c.896-29798A= c.2849A= (p.Asp950=) c.7892A= (p.Asp2631=) n.1821A= c.8021A= (p.Asp2674=) | |
2 | g.73489977A>C | CA347266941 | ALMS1 | c.7637A>C (p.Asp2546Ala) c.1029A>C c.5089A>C c.2084A>C (p.Asp695Ala) c.8018A>C (p.Asp2673Ala) c.896-29798A>C c.2849A>C (p.Asp950Ala) c.7892A>C (p.Asp2631Ala) n.1821A>C c.8021A>C (p.Asp2674Ala) | gnomAD v4 |
2 | g.73489977A>G | CA1714391 | ALMS1 | c.7637A>G (p.Asp2546Gly) c.1029A>G c.5089A>G c.2084A>G (p.Asp695Gly) c.8018A>G (p.Asp2673Gly) c.896-29798A>G c.2849A>G (p.Asp950Gly) c.7892A>G (p.Asp2631Gly) n.1821A>G c.8021A>G (p.Asp2674Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73489977A>T | CA347266937 | ALMS1 | c.7637A>T (p.Asp2546Val) c.1029A>T c.5089A>T c.2084A>T (p.Asp695Val) c.8018A>T (p.Asp2673Val) c.896-29798A>T c.2849A>T (p.Asp950Val) c.7892A>T (p.Asp2631Val) n.1821A>T c.8021A>T (p.Asp2674Val) | |
2 | g.73489978T>A | CA347266945 | ALMS1 | c.7638T>A (p.Asp2546Glu) c.1030T>A c.5090T>A c.2085T>A (p.Asp695Glu) c.8019T>A (p.Asp2673Glu) c.896-29797T>A c.2850T>A (p.Asp950Glu) c.7893T>A (p.Asp2631Glu) n.1822T>A c.8022T>A (p.Asp2674Glu) | ClinVar |
2 | g.73489978T>C | CA427000740 | ALMS1 | c.7638T>C (p.Asp2546=) c.1030T>C c.5090T>C c.2085T>C (p.Asp695=) c.8019T>C (p.Asp2673=) c.896-29797T>C c.2850T>C (p.Asp950=) c.7893T>C (p.Asp2631=) n.1822T>C c.8022T>C (p.Asp2674=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73489978T>G | CA347266943 | ALMS1 | c.7638T>G (p.Asp2546Glu) c.1030T>G c.5090T>G c.2085T>G (p.Asp695Glu) c.8019T>G (p.Asp2673Glu) c.896-29797T>G c.2850T>G (p.Asp950Glu) c.7893T>G (p.Asp2631Glu) n.1822T>G c.8022T>G (p.Asp2674Glu) | |
2 | g.73489978T= | CA1260981241 | ALMS1 | c.7638T= (p.Asp2546=) c.1030T= c.5090T= c.2085T= (p.Asp695=) c.8019T= (p.Asp2673=) c.896-29797T= c.2850T= (p.Asp950=) c.7893T= (p.Asp2631=) n.1822T= c.8022T= (p.Asp2674=) | |
2 | g.73489979G>A | CA347266948 | ALMS1 | c.7639G>A (p.Glu2547Lys) c.1031G>A c.5091G>A c.2086G>A (p.Glu696Lys) c.8020G>A (p.Glu2674Lys) c.896-29796G>A c.2851G>A (p.Glu951Lys) c.7894G>A (p.Glu2632Lys) n.1823G>A c.8023G>A (p.Glu2675Lys) | |
2 | g.73489979G>C | CA347266949 | ALMS1 | c.7639G>C (p.Glu2547Gln) c.1031G>C c.5091G>C c.2086G>C (p.Glu696Gln) c.8020G>C (p.Glu2674Gln) c.896-29796G>C c.2851G>C (p.Glu951Gln) c.7894G>C (p.Glu2632Gln) n.1823G>C c.8023G>C (p.Glu2675Gln) | |
2 | g.73489979G>T | CA347266952 | ALMS1 | c.7639G>T (p.Glu2547Ter) c.1031G>T c.5091G>T c.2086G>T (p.Glu696Ter) c.8020G>T (p.Glu2674Ter) c.896-29796G>T c.2851G>T (p.Glu951Ter) c.7894G>T (p.Glu2632Ter) n.1823G>T c.8023G>T (p.Glu2675Ter) | |
2 | g.73489980A>C | CA347266954 | ALMS1 | c.7640A>C (p.Glu2547Ala) c.1032A>C c.5092A>C c.2087A>C (p.Glu696Ala) c.8021A>C (p.Glu2674Ala) c.896-29795A>C c.2852A>C (p.Glu951Ala) c.7895A>C (p.Glu2632Ala) n.1824A>C c.8024A>C (p.Glu2675Ala) | |
2 | g.73489980A>G | CA347266957 | ALMS1 | c.7640A>G (p.Glu2547Gly) c.1032A>G c.5092A>G c.2087A>G (p.Glu696Gly) c.8021A>G (p.Glu2674Gly) c.896-29795A>G c.2852A>G (p.Glu951Gly) c.7895A>G (p.Glu2632Gly) n.1824A>G c.8024A>G (p.Glu2675Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.73489980A>T | CA347266959 | ALMS1 | c.7640A>T (p.Glu2547Val) c.1032A>T c.5092A>T c.2087A>T (p.Glu696Val) c.8021A>T (p.Glu2674Val) c.896-29795A>T c.2852A>T (p.Glu951Val) c.7895A>T (p.Glu2632Val) n.1824A>T c.8024A>T (p.Glu2675Val) | |
2 | g.73489981A>C | CA347266962 | ALMS1 | c.7641A>C (p.Glu2547Asp) c.1033A>C c.5093A>C c.2088A>C (p.Glu696Asp) c.8022A>C (p.Glu2674Asp) c.896-29794A>C c.2853A>C (p.Glu951Asp) c.7896A>C (p.Glu2632Asp) n.1825A>C c.8025A>C (p.Glu2675Asp) | |
2 | g.73489981A>G | CA427000741 | ALMS1 | c.7641A>G (p.Glu2547=) c.1033A>G c.5093A>G c.2088A>G (p.Glu696=) c.8022A>G (p.Glu2674=) c.896-29794A>G c.2853A>G (p.Glu951=) c.7896A>G (p.Glu2632=) n.1825A>G c.8025A>G (p.Glu2675=) | |
2 | g.73489981A>T | CA347266963 | ALMS1 | c.7641A>T (p.Glu2547Asp) c.1033A>T c.5093A>T c.2088A>T (p.Glu696Asp) c.8022A>T (p.Glu2674Asp) c.896-29794A>T c.2853A>T (p.Glu951Asp) c.7896A>T (p.Glu2632Asp) n.1825A>T c.8025A>T (p.Glu2675Asp) | |
2 | g.73489982A>C | CA347266967 | ALMS1 | c.7642A>C (p.Lys2548Gln) c.1034A>C c.5094A>C c.2089A>C (p.Lys697Gln) c.8023A>C (p.Lys2675Gln) c.896-29793A>C c.2854A>C (p.Lys952Gln) c.7897A>C (p.Lys2633Gln) n.1826A>C c.8026A>C (p.Lys2676Gln) | |
2 | g.73489982A>G | CA347266969 | ALMS1 | c.7642A>G (p.Lys2548Glu) c.1034A>G c.5094A>G c.2089A>G (p.Lys697Glu) c.8023A>G (p.Lys2675Glu) c.896-29793A>G c.2854A>G (p.Lys952Glu) c.7897A>G (p.Lys2633Glu) n.1826A>G c.8026A>G (p.Lys2676Glu) | |
2 | g.73489982A>T | CA347266972 | ALMS1 | c.7642A>T (p.Lys2548Ter) c.1034A>T c.5094A>T c.2089A>T (p.Lys697Ter) c.8023A>T (p.Lys2675Ter) c.896-29793A>T c.2854A>T (p.Lys952Ter) c.7897A>T (p.Lys2633Ter) n.1826A>T c.8026A>T (p.Lys2676Ter) | |
2 | g.73489983A>C | CA347266979 | ALMS1 | c.7643A>C (p.Lys2548Thr) c.1035A>C c.5095A>C c.2090A>C (p.Lys697Thr) c.8024A>C (p.Lys2675Thr) c.896-29792A>C c.2855A>C (p.Lys952Thr) c.7898A>C (p.Lys2633Thr) n.1827A>C c.8027A>C (p.Lys2676Thr) | |
2 | g.73489983A>G | CA347266982 | ALMS1 | c.7643A>G (p.Lys2548Arg) c.1035A>G c.5095A>G c.2090A>G (p.Lys697Arg) c.8024A>G (p.Lys2675Arg) c.896-29792A>G c.2855A>G (p.Lys952Arg) c.7898A>G (p.Lys2633Arg) n.1827A>G c.8027A>G (p.Lys2676Arg) | |
2 | g.73489983A>T | CA347266976 | ALMS1 | c.7643A>T (p.Lys2548Met) c.1035A>T c.5095A>T c.2090A>T (p.Lys697Met) c.8024A>T (p.Lys2675Met) c.896-29792A>T c.2855A>T (p.Lys952Met) c.7898A>T (p.Lys2633Met) n.1827A>T c.8027A>T (p.Lys2676Met) | |
2 | g.73489984G>A | CA427000742 | ALMS1 | c.7644G>A (p.Lys2548=) c.1036G>A c.5096G>A c.2091G>A (p.Lys697=) c.8025G>A (p.Lys2675=) c.896-29791G>A c.2856G>A (p.Lys952=) c.7899G>A (p.Lys2633=) n.1828G>A c.8028G>A (p.Lys2676=) | |
2 | g.73489984G>C | CA347266984 | ALMS1 | c.7644G>C (p.Lys2548Asn) c.1036G>C c.5096G>C c.2091G>C (p.Lys697Asn) c.8025G>C (p.Lys2675Asn) c.896-29791G>C c.2856G>C (p.Lys952Asn) c.7899G>C (p.Lys2633Asn) n.1828G>C c.8028G>C (p.Lys2676Asn) | ClinVar dbSNP |
2 | g.73489984G>T | CA347266987 | ALMS1 | c.7644G>T (p.Lys2548Asn) c.1036G>T c.5096G>T c.2091G>T (p.Lys697Asn) c.8025G>T (p.Lys2675Asn) c.896-29791G>T c.2856G>T (p.Lys952Asn) c.7899G>T (p.Lys2633Asn) n.1828G>T c.8028G>T (p.Lys2676Asn) | |
2 | g.73489985A= | CA1260981242 | ALMS1 | c.7645A= (p.Met2549=) c.1037A= c.5097A= c.2092A= (p.Met698=) c.8026A= (p.Met2676=) c.896-29790A= c.2857A= (p.Met953=) c.7900A= (p.Met2634=) n.1829A= c.8029A= (p.Met2677=) | |
2 | g.73489985A>C | CA347266991 | ALMS1 | c.7645A>C (p.Met2549Leu) c.1037A>C c.5097A>C c.2092A>C (p.Met698Leu) c.8026A>C (p.Met2676Leu) c.896-29790A>C c.2857A>C (p.Met953Leu) c.7900A>C (p.Met2634Leu) n.1829A>C c.8029A>C (p.Met2677Leu) | |
2 | g.73489985A>G | CA1714392 | ALMS1 | c.7645A>G (p.Met2549Val) c.1037A>G c.5097A>G c.2092A>G (p.Met698Val) c.8026A>G (p.Met2676Val) c.896-29790A>G c.2857A>G (p.Met953Val) c.7900A>G (p.Met2634Val) n.1829A>G c.8029A>G (p.Met2677Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489985A>T | CA347266994 | ALMS1 | c.7645A>T (p.Met2549Leu) c.1037A>T c.5097A>T c.2092A>T (p.Met698Leu) c.8026A>T (p.Met2676Leu) c.896-29790A>T c.2857A>T (p.Met953Leu) c.7900A>T (p.Met2634Leu) n.1829A>T c.8029A>T (p.Met2677Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489986T>A | CA347267002 | ALMS1 | c.7646T>A (p.Met2549Lys) c.1038T>A c.5098T>A c.2093T>A (p.Met698Lys) c.8027T>A (p.Met2676Lys) c.896-29789T>A c.2858T>A (p.Met953Lys) c.7901T>A (p.Met2634Lys) n.1830T>A c.8030T>A (p.Met2677Lys) | |
2 | g.73489986T>C | CA347266998 | ALMS1 | c.7646T>C (p.Met2549Thr) c.1038T>C c.5098T>C c.2093T>C (p.Met698Thr) c.8027T>C (p.Met2676Thr) c.896-29789T>C c.2858T>C (p.Met953Thr) c.7901T>C (p.Met2634Thr) n.1830T>C c.8030T>C (p.Met2677Thr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489986T>G | CA347267000 | ALMS1 | c.7646T>G (p.Met2549Arg) c.1038T>G c.5098T>G c.2093T>G (p.Met698Arg) c.8027T>G (p.Met2676Arg) c.896-29789T>G c.2858T>G (p.Met953Arg) c.7901T>G (p.Met2634Arg) n.1830T>G c.8030T>G (p.Met2677Arg) | |
2 | g.73489986T= | CA1260981243 | ALMS1 | c.7646T= (p.Met2549=) c.1038T= c.5098T= c.2093T= (p.Met698=) c.8027T= (p.Met2676=) c.896-29789T= c.2858T= (p.Met953=) c.7901T= (p.Met2634=) n.1830T= c.8030T= (p.Met2677=) | |
2 | g.73489987G>A | CA50377874 | ALMS1 | c.7647G>A (p.Met2549Ile) c.1039G>A c.5099G>A c.2094G>A (p.Met698Ile) c.8028G>A (p.Met2676Ile) c.896-29788G>A c.2859G>A (p.Met953Ile) c.7902G>A (p.Met2634Ile) n.1831G>A c.8031G>A (p.Met2677Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489987G>C | CA347267007 | ALMS1 | c.7647G>C (p.Met2549Ile) c.1039G>C c.5099G>C c.2094G>C (p.Met698Ile) c.8028G>C (p.Met2676Ile) c.896-29788G>C c.2859G>C (p.Met953Ile) c.7902G>C (p.Met2634Ile) n.1831G>C c.8031G>C (p.Met2677Ile) | |
2 | g.73489987G= | CA1260981244 | ALMS1 | c.7647G= (p.Met2549=) c.1039G= c.5099G= c.2094G= (p.Met698=) c.8028G= (p.Met2676=) c.896-29788G= c.2859G= (p.Met953=) c.7902G= (p.Met2634=) n.1831G= c.8031G= (p.Met2677=) | |
2 | g.73489987G>T | CA347267010 | ALMS1 | c.7647G>T (p.Met2549Ile) c.1039G>T c.5099G>T c.2094G>T (p.Met698Ile) c.8028G>T (p.Met2676Ile) c.896-29788G>T c.2859G>T (p.Met953Ile) c.7902G>T (p.Met2634Ile) n.1831G>T c.8031G>T (p.Met2677Ile) | |
2 | g.73489988G>A | CA347267013 | ALMS1 | c.7648G>A (p.Asp2550Asn) c.1040G>A c.5100G>A c.2095G>A (p.Asp699Asn) c.8029G>A (p.Asp2677Asn) c.896-29787G>A c.2860G>A (p.Asp954Asn) c.7903G>A (p.Asp2635Asn) n.1832G>A c.8032G>A (p.Asp2678Asn) | |
2 | g.73489988G>C | CA347267016 | ALMS1 | c.7648G>C (p.Asp2550His) c.1040G>C c.5100G>C c.2095G>C (p.Asp699His) c.8029G>C (p.Asp2677His) c.896-29787G>C c.2860G>C (p.Asp954His) c.7903G>C (p.Asp2635His) n.1832G>C c.8032G>C (p.Asp2678His) | |
2 | g.73489988G>T | CA347267018 | ALMS1 | c.7648G>T (p.Asp2550Tyr) c.1040G>T c.5100G>T c.2095G>T (p.Asp699Tyr) c.8029G>T (p.Asp2677Tyr) c.896-29787G>T c.2860G>T (p.Asp954Tyr) c.7903G>T (p.Asp2635Tyr) n.1832G>T c.8032G>T (p.Asp2678Tyr) | |
2 | g.73489989A= | CA1260981245 | ALMS1 | c.7649A= (p.Asp2550=) c.1041A= c.5101A= c.2096A= (p.Asp699=) c.8030A= (p.Asp2677=) c.896-29786A= c.2861A= (p.Asp954=) c.7904A= (p.Asp2635=) n.1833A= c.8033A= (p.Asp2678=) | |
2 | g.73489989A>C | CA50377881 | ALMS1 | c.7649A>C (p.Asp2550Ala) c.1041A>C c.5101A>C c.2096A>C (p.Asp699Ala) c.8030A>C (p.Asp2677Ala) c.896-29786A>C c.2861A>C (p.Asp954Ala) c.7904A>C (p.Asp2635Ala) n.1833A>C c.8033A>C (p.Asp2678Ala) | dbSNP |
2 | g.73489989A>G | CA347267029 | ALMS1 | c.7649A>G (p.Asp2550Gly) c.1041A>G c.5101A>G c.2096A>G (p.Asp699Gly) c.8030A>G (p.Asp2677Gly) c.896-29786A>G c.2861A>G (p.Asp954Gly) c.7904A>G (p.Asp2635Gly) n.1833A>G c.8033A>G (p.Asp2678Gly) | |
2 | g.73489989A>T | CA347267022 | ALMS1 | c.7649A>T (p.Asp2550Val) c.1041A>T c.5101A>T c.2096A>T (p.Asp699Val) c.8030A>T (p.Asp2677Val) c.896-29786A>T c.2861A>T (p.Asp954Val) c.7904A>T (p.Asp2635Val) n.1833A>T c.8033A>T (p.Asp2678Val) | |
2 | g.73489990C>A | CA1714393 | ALMS1 | c.7650C>A (p.Asp2550Glu) c.1042C>A c.5102C>A c.2097C>A (p.Asp699Glu) c.8031C>A (p.Asp2677Glu) c.896-29785C>A c.2862C>A (p.Asp954Glu) c.7905C>A (p.Asp2635Glu) n.1834C>A c.8034C>A (p.Asp2678Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489990C= | CA1260981246 | ALMS1 | c.7650C= (p.Asp2550=) c.1042C= c.5102C= c.2097C= (p.Asp699=) c.8031C= (p.Asp2677=) c.896-29785C= c.2862C= (p.Asp954=) c.7905C= (p.Asp2635=) n.1834C= c.8034C= (p.Asp2678=) | |
2 | g.73489990C>G | CA347267032 | ALMS1 | c.7650C>G (p.Asp2550Glu) c.1042C>G c.5102C>G c.2097C>G (p.Asp699Glu) c.8031C>G (p.Asp2677Glu) c.896-29785C>G c.2862C>G (p.Asp954Glu) c.7905C>G (p.Asp2635Glu) n.1834C>G c.8034C>G (p.Asp2678Glu) | |
2 | g.73489990C>T | CA427000743 | ALMS1 | c.7650C>T (p.Asp2550=) c.1042C>T c.5102C>T c.2097C>T (p.Asp699=) c.8031C>T (p.Asp2677=) c.896-29785C>T c.2862C>T (p.Asp954=) c.7905C>T (p.Asp2635=) n.1834C>T c.8034C>T (p.Asp2678=) | ClinVar dbSNP gnomAD v4 |
2 | g.73489991C>A | CA347267037 | ALMS1 | c.7651C>A (p.Pro2551Thr) c.1043C>A c.5103C>A c.2098C>A (p.Pro700Thr) c.8032C>A (p.Pro2678Thr) c.896-29784C>A c.2863C>A (p.Pro955Thr) c.7906C>A (p.Pro2636Thr) n.1835C>A c.8035C>A (p.Pro2679Thr) | |
2 | g.73489991C>G | CA347267039 | ALMS1 | c.7651C>G (p.Pro2551Ala) c.1043C>G c.5103C>G c.2098C>G (p.Pro700Ala) c.8032C>G (p.Pro2678Ala) c.896-29784C>G c.2863C>G (p.Pro955Ala) c.7906C>G (p.Pro2636Ala) n.1835C>G c.8035C>G (p.Pro2679Ala) | |
2 | g.73489991C>T | CA347267041 | ALMS1 | c.7651C>T (p.Pro2551Ser) c.1043C>T c.5103C>T c.2098C>T (p.Pro700Ser) c.8032C>T (p.Pro2678Ser) c.896-29784C>T c.2863C>T (p.Pro955Ser) c.7906C>T (p.Pro2636Ser) n.1835C>T c.8035C>T (p.Pro2679Ser) | gnomAD v4 |
2 | g.73489992C>A | CA347267049 | ALMS1 | c.7652C>A (p.Pro2551His) c.1044C>A c.5104C>A c.2099C>A (p.Pro700His) c.8033C>A (p.Pro2678His) c.896-29783C>A c.2864C>A (p.Pro955His) c.7907C>A (p.Pro2636His) n.1836C>A c.8036C>A (p.Pro2679His) | |
2 | g.73489992C>G | CA347267047 | ALMS1 | c.7652C>G (p.Pro2551Arg) c.1044C>G c.5104C>G c.2099C>G (p.Pro700Arg) c.8033C>G (p.Pro2678Arg) c.896-29783C>G c.2864C>G (p.Pro955Arg) c.7907C>G (p.Pro2636Arg) n.1836C>G c.8036C>G (p.Pro2679Arg) | |
2 | g.73489992C>T | CA347267045 | ALMS1 | c.7652C>T (p.Pro2551Leu) c.1044C>T c.5104C>T c.2099C>T (p.Pro700Leu) c.8033C>T (p.Pro2678Leu) c.896-29783C>T c.2864C>T (p.Pro955Leu) c.7907C>T (p.Pro2636Leu) n.1836C>T c.8036C>T (p.Pro2679Leu) | |
2 | g.73489993T>A | CA427000744 | ALMS1 | c.7653T>A (p.Pro2551=) c.1045T>A c.5105T>A c.2100T>A (p.Pro700=) c.8034T>A (p.Pro2678=) c.896-29782T>A c.2865T>A (p.Pro955=) c.7908T>A (p.Pro2636=) n.1837T>A c.8037T>A (p.Pro2679=) | |
2 | g.73489993T>C | CA427000745 | ALMS1 | c.7653T>C (p.Pro2551=) c.1045T>C c.5105T>C c.2100T>C (p.Pro700=) c.8034T>C (p.Pro2678=) c.896-29782T>C c.2865T>C (p.Pro955=) c.7908T>C (p.Pro2636=) n.1837T>C c.8037T>C (p.Pro2679=) | |
2 | g.73489993T>G | CA427000746 | ALMS1 | c.7653T>G (p.Pro2551=) c.1045T>G c.5105T>G c.2100T>G (p.Pro700=) c.8034T>G (p.Pro2678=) c.896-29782T>G c.2865T>G (p.Pro955=) c.7908T>G (p.Pro2636=) n.1837T>G c.8037T>G (p.Pro2679=) | |
2 | g.73489994T>A | CA347267053 | ALMS1 | c.7654T>A (p.Trp2552Arg) c.1046T>A c.5106T>A c.2101T>A (p.Trp701Arg) c.8035T>A (p.Trp2679Arg) c.896-29781T>A c.2866T>A (p.Trp956Arg) c.7909T>A (p.Trp2637Arg) n.1838T>A c.8038T>A (p.Trp2680Arg) | |
2 | g.73489994T>C | CA347267054 | ALMS1 | c.7654T>C (p.Trp2552Arg) c.1046T>C c.5106T>C c.2101T>C (p.Trp701Arg) c.8035T>C (p.Trp2679Arg) c.896-29781T>C c.2866T>C (p.Trp956Arg) c.7909T>C (p.Trp2637Arg) n.1838T>C c.8038T>C (p.Trp2680Arg) | |
2 | g.73489994T>G | CA347267057 | ALMS1 | c.7654T>G (p.Trp2552Gly) c.1046T>G c.5106T>G c.2101T>G (p.Trp701Gly) c.8035T>G (p.Trp2679Gly) c.896-29781T>G c.2866T>G (p.Trp956Gly) c.7909T>G (p.Trp2637Gly) n.1838T>G c.8038T>G (p.Trp2680Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73489994T= | CA1260981247 | ALMS1 | c.7654T= (p.Trp2552=) c.1046T= c.5106T= c.2101T= (p.Trp701=) c.8035T= (p.Trp2679=) c.896-29781T= c.2866T= (p.Trp956=) c.7909T= (p.Trp2637=) n.1838T= c.8038T= (p.Trp2680=) | |
2 | g.73489995G>A | CA347267059 | ALMS1 | c.7655G>A (p.Trp2552Ter) c.1047G>A c.5107G>A c.2102G>A (p.Trp701Ter) c.8036G>A (p.Trp2679Ter) c.896-29780G>A c.2867G>A (p.Trp956Ter) c.7910G>A (p.Trp2637Ter) n.1839G>A c.8039G>A (p.Trp2680Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73489995G>C | CA347267061 | ALMS1 | c.7655G>C (p.Trp2552Ser) c.1047G>C c.5107G>C c.2102G>C (p.Trp701Ser) c.8036G>C (p.Trp2679Ser) c.896-29780G>C c.2867G>C (p.Trp956Ser) c.7910G>C (p.Trp2637Ser) n.1839G>C c.8039G>C (p.Trp2680Ser) | |
2 | g.73489995G= | CA1260981249 | ALMS1 | c.7655G= (p.Trp2552=) c.1047G= c.5107G= c.2102G= (p.Trp701=) c.8036G= (p.Trp2679=) c.896-29780G= c.2867G= (p.Trp956=) c.7910G= (p.Trp2637=) n.1839G= c.8039G= (p.Trp2680=) | |
2 | g.73489995G>T | CA347267064 | ALMS1 | c.7655G>T (p.Trp2552Leu) c.1047G>T c.5107G>T c.2102G>T (p.Trp701Leu) c.8036G>T (p.Trp2679Leu) c.896-29780G>T c.2867G>T (p.Trp956Leu) c.7910G>T (p.Trp2637Leu) n.1839G>T c.8039G>T (p.Trp2680Leu) | |
2 | g.73489996G>A | CA347267073 | ALMS1 | c.7656G>A (p.Trp2552Ter) c.1048G>A c.5108G>A c.2103G>A (p.Trp701Ter) c.8037G>A (p.Trp2679Ter) c.896-29779G>A c.2868G>A (p.Trp956Ter) c.7911G>A (p.Trp2637Ter) n.1840G>A c.8040G>A (p.Trp2680Ter) | gnomAD v4 |
2 | g.73489996G>C | CA347267067 | ALMS1 | c.7656G>C (p.Trp2552Cys) c.1048G>C c.5108G>C c.2103G>C (p.Trp701Cys) c.8037G>C (p.Trp2679Cys) c.896-29779G>C c.2868G>C (p.Trp956Cys) c.7911G>C (p.Trp2637Cys) n.1840G>C c.8040G>C (p.Trp2680Cys) | |
2 | g.73489996G>T | CA347267071 | ALMS1 | c.7656G>T (p.Trp2552Cys) c.1048G>T c.5108G>T c.2103G>T (p.Trp701Cys) c.8037G>T (p.Trp2679Cys) c.896-29779G>T c.2868G>T (p.Trp956Cys) c.7911G>T (p.Trp2637Cys) n.1840G>T c.8040G>T (p.Trp2680Cys) | |
2 | g.73489997C>A | CA50377901 | ALMS1 | c.7657C>A (p.Leu2553Met) c.1049C>A c.5109C>A c.2104C>A (p.Leu702Met) c.8038C>A (p.Leu2680Met) c.896-29778C>A c.2869C>A (p.Leu957Met) c.7912C>A (p.Leu2638Met) n.1841C>A c.8041C>A (p.Leu2681Met) | dbSNP gnomAD v4 |
2 | g.73489997C= | CA1260981250 | ALMS1 | c.7657C= (p.Leu2553=) c.1049C= c.5109C= c.2104C= (p.Leu702=) c.8038C= (p.Leu2680=) c.896-29778C= c.2869C= (p.Leu957=) c.7912C= (p.Leu2638=) n.1841C= c.8041C= (p.Leu2681=) | |
2 | g.73489997C>G | CA347267077 | ALMS1 | c.7657C>G (p.Leu2553Val) c.1049C>G c.5109C>G c.2104C>G (p.Leu702Val) c.8038C>G (p.Leu2680Val) c.896-29778C>G c.2869C>G (p.Leu957Val) c.7912C>G (p.Leu2638Val) n.1841C>G c.8041C>G (p.Leu2681Val) | |
2 | g.73489997C>T | CA50377909 | ALMS1 | c.7657C>T (p.Leu2553=) c.1049C>T c.5109C>T c.2104C>T (p.Leu702=) c.8038C>T (p.Leu2680=) c.896-29778C>T c.2869C>T (p.Leu957=) c.7912C>T (p.Leu2638=) n.1841C>T c.8041C>T (p.Leu2681=) | dbSNP |
2 | g.73489998T>A | CA347267083 | ALMS1 | c.7658T>A (p.Leu2553Gln) c.1050T>A c.5110T>A c.2105T>A (p.Leu702Gln) c.8039T>A (p.Leu2680Gln) c.896-29777T>A c.2870T>A (p.Leu957Gln) c.7913T>A (p.Leu2638Gln) n.1842T>A c.8042T>A (p.Leu2681Gln) | |
2 | g.73489998T>C | CA347267085 | ALMS1 | c.7658T>C (p.Leu2553Pro) c.1050T>C c.5110T>C c.2105T>C (p.Leu702Pro) c.8039T>C (p.Leu2680Pro) c.896-29777T>C c.2870T>C (p.Leu957Pro) c.7913T>C (p.Leu2638Pro) n.1842T>C c.8042T>C (p.Leu2681Pro) | |
2 | g.73489998T>G | CA347267088 | ALMS1 | c.7658T>G (p.Leu2553Arg) c.1050T>G c.5110T>G c.2105T>G (p.Leu702Arg) c.8039T>G (p.Leu2680Arg) c.896-29777T>G c.2870T>G (p.Leu957Arg) c.7913T>G (p.Leu2638Arg) n.1842T>G c.8042T>G (p.Leu2681Arg) | |
2 | g.73489999G>A | CA427000747 | ALMS1 | c.7659G>A (p.Leu2553=) c.1051G>A c.5111G>A c.2106G>A (p.Leu702=) c.8040G>A (p.Leu2680=) c.896-29776G>A c.2871G>A (p.Leu957=) c.7914G>A (p.Leu2638=) n.1843G>A c.8043G>A (p.Leu2681=) | |
2 | g.73489999G>C | CA427000748 | ALMS1 | c.7659G>C (p.Leu2553=) c.1051G>C c.5111G>C c.2106G>C (p.Leu702=) c.8040G>C (p.Leu2680=) c.896-29776G>C c.2871G>C (p.Leu957=) c.7914G>C (p.Leu2638=) n.1843G>C c.8043G>C (p.Leu2681=) | |
2 | g.73489999G= | CA1260981253 | ALMS1 | c.7659G= (p.Leu2553=) c.1051G= c.5111G= c.2106G= (p.Leu702=) c.8040G= (p.Leu2680=) c.896-29776G= c.2871G= (p.Leu957=) c.7914G= (p.Leu2638=) n.1843G= c.8043G= (p.Leu2681=) | |
2 | g.73489999G>T | CA1714394 | ALMS1 | c.7659G>T (p.Leu2553=) c.1051G>T c.5111G>T c.2106G>T (p.Leu702=) c.8040G>T (p.Leu2680=) c.896-29776G>T c.2871G>T (p.Leu957=) c.7914G>T (p.Leu2638=) n.1843G>T c.8043G>T (p.Leu2681=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490000T>A | CA347267092 | ALMS1 | c.7660T>A (p.Ser2554Thr) c.1052T>A c.5112T>A c.2107T>A (p.Ser703Thr) c.8041T>A (p.Ser2681Thr) c.896-29775T>A c.2872T>A (p.Ser958Thr) c.7915T>A (p.Ser2639Thr) n.1844T>A c.8044T>A (p.Ser2682Thr) | |
2 | g.73490000T>C | CA347267095 | ALMS1 | c.7660T>C (p.Ser2554Pro) c.1052T>C c.5112T>C c.2107T>C (p.Ser703Pro) c.8041T>C (p.Ser2681Pro) c.896-29775T>C c.2872T>C (p.Ser958Pro) c.7915T>C (p.Ser2639Pro) n.1844T>C c.8044T>C (p.Ser2682Pro) | |
2 | g.73490000T>G | CA347267097 | ALMS1 | c.7660T>G (p.Ser2554Ala) c.1052T>G c.5112T>G c.2107T>G (p.Ser703Ala) c.8041T>G (p.Ser2681Ala) c.896-29775T>G c.2872T>G (p.Ser958Ala) c.7915T>G (p.Ser2639Ala) n.1844T>G c.8044T>G (p.Ser2682Ala) | |
2 | g.73490000_73490001insATTAGAATTAG | CA2573135757 | ALMS1 | c.7660_7661insATTAGAATTAG (p.Ser2554TyrfsTer2) c.1052_1053insATTAGAATTAG c.5112_5113insATTAGAATTAG c.2107_2108insATTAGAATTAG (p.Ser703TyrfsTer2) c.8041_8042insATTAGAATTAG (p.Ser2681TyrfsTer2) c.896-29775_896-29774insATTAGAATTAG c.2872_2873insATTAGAATTAG (p.Ser958TyrfsTer2) c.7915_7916insATTAGAATTAG (p.Ser2639TyrfsTer2) n.1844_1845insATTAGAATTAG c.8044_8045insATTAGAATTAG (p.Ser2682TyrfsTer2) | dbSNP |
2 | g.73490001C>A | CA347267101 | ALMS1 | c.7661C>A (p.Ser2554Ter) c.1053C>A c.5113C>A c.2108C>A (p.Ser703Ter) c.8042C>A (p.Ser2681Ter) c.896-29774C>A c.2873C>A (p.Ser958Ter) c.7916C>A (p.Ser2639Ter) n.1845C>A c.8045C>A (p.Ser2682Ter) | |
2 | g.73490001C>G | CA347267103 | ALMS1 | c.7661C>G (p.Ser2554Ter) c.1053C>G c.5113C>G c.2108C>G (p.Ser703Ter) c.8042C>G (p.Ser2681Ter) c.896-29774C>G c.2873C>G (p.Ser958Ter) c.7916C>G (p.Ser2639Ter) n.1845C>G c.8045C>G (p.Ser2682Ter) | ClinVar gnomAD v4 |
2 | g.73490001C>T | CA347267105 | ALMS1 | c.7661C>T (p.Ser2554Leu) c.1053C>T c.5113C>T c.2108C>T (p.Ser703Leu) c.8042C>T (p.Ser2681Leu) c.896-29774C>T c.2873C>T (p.Ser958Leu) c.7916C>T (p.Ser2639Leu) n.1845C>T c.8045C>T (p.Ser2682Leu) | |
2 | g.73490001_73490002delinsCA | CA1260981255 | ALMS1 | c.7661_7662delinsCA (p.Ser2554=) c.1053_1054delinsCA c.5113_5114delinsCA c.2108_2109delinsCA (p.Ser703=) c.8042_8043delinsCA (p.Ser2681=) c.896-29774_896-29773delinsCA c.2873_2874delinsCA (p.Ser958=) c.7916_7917delinsCA (p.Ser2639=) n.1845_1846delinsCA c.8045_8046delinsCA (p.Ser2682=) | |
2 | g.73490002del | CA1260981259 | ALMS1 | c.7662del (p.Glu2555AsnfsTer2) c.1054del c.5114del c.2109del (p.Glu704AsnfsTer2) c.8043del (p.Glu2682AsnfsTer2) c.896-29773del c.2874del (p.Glu959AsnfsTer2) c.7917del (p.Glu2640AsnfsTer2) n.1846del c.8046del (p.Glu2683AsnfsTer2) | dbSNP |
2 | g.73490002A= | CA1260981260 | ALMS1 | c.7662A= (p.Ser2554=) c.1054A= c.5114A= c.2109A= (p.Ser703=) c.8043A= (p.Ser2681=) c.896-29773A= c.2874A= (p.Ser958=) c.7917A= (p.Ser2639=) n.1846A= c.8046A= (p.Ser2682=) | |
2 | g.73490002A>C | CA427000749 | ALMS1 | c.7662A>C (p.Ser2554=) c.1054A>C c.5114A>C c.2109A>C (p.Ser703=) c.8043A>C (p.Ser2681=) c.896-29773A>C c.2874A>C (p.Ser958=) c.7917A>C (p.Ser2639=) n.1846A>C c.8046A>C (p.Ser2682=) | |
2 | g.73490002A>G | CA427000750 | ALMS1 | c.7662A>G (p.Ser2554=) c.1054A>G c.5114A>G c.2109A>G (p.Ser703=) c.8043A>G (p.Ser2681=) c.896-29773A>G c.2874A>G (p.Ser958=) c.7917A>G (p.Ser2639=) n.1846A>G c.8046A>G (p.Ser2682=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490002A>T | CA427000751 | ALMS1 | c.7662A>T (p.Ser2554=) c.1054A>T c.5114A>T c.2109A>T (p.Ser703=) c.8043A>T (p.Ser2681=) c.896-29773A>T c.2874A>T (p.Ser958=) c.7917A>T (p.Ser2639=) n.1846A>T c.8046A>T (p.Ser2682=) | |
2 | g.73490003G>A | CA347267108 | ALMS1 | c.7663G>A (p.Glu2555Lys) c.1055G>A c.5115G>A c.2110G>A (p.Glu704Lys) c.8044G>A (p.Glu2682Lys) c.896-29772G>A c.2875G>A (p.Glu959Lys) c.7918G>A (p.Glu2640Lys) n.1847G>A c.8047G>A (p.Glu2683Lys) | |
2 | g.73490003G>C | CA50377918 | ALMS1 | c.7663G>C (p.Glu2555Gln) c.1055G>C c.5115G>C c.2110G>C (p.Glu704Gln) c.8044G>C (p.Glu2682Gln) c.896-29772G>C c.2875G>C (p.Glu959Gln) c.7918G>C (p.Glu2640Gln) n.1847G>C c.8047G>C (p.Glu2683Gln) | ClinVar dbSNP gnomAD v4 |
2 | g.73490003G= | CA1260981265 | ALMS1 | c.7663G= (p.Glu2555=) c.1055G= c.5115G= c.2110G= (p.Glu704=) c.8044G= (p.Glu2682=) c.896-29772G= c.2875G= (p.Glu959=) c.7918G= (p.Glu2640=) n.1847G= c.8047G= (p.Glu2683=) | |
2 | g.73490003G>T | CA1714395 | ALMS1 | c.7663G>T (p.Glu2555Ter) c.1055G>T c.5115G>T c.2110G>T (p.Glu704Ter) c.8044G>T (p.Glu2682Ter) c.896-29772G>T c.2875G>T (p.Glu959Ter) c.7918G>T (p.Glu2640Ter) n.1847G>T c.8047G>T (p.Glu2683Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73490004A>C | CA347267113 | ALMS1 | c.7664A>C (p.Glu2555Ala) c.1056A>C c.5116A>C c.2111A>C (p.Glu704Ala) c.8045A>C (p.Glu2682Ala) c.896-29771A>C c.2876A>C (p.Glu959Ala) c.7919A>C (p.Glu2640Ala) n.1848A>C c.8048A>C (p.Glu2683Ala) | |
2 | g.73490004A>G | CA347267117 | ALMS1 | c.7664A>G (p.Glu2555Gly) c.1056A>G c.5116A>G c.2111A>G (p.Glu704Gly) c.8045A>G (p.Glu2682Gly) c.896-29771A>G c.2876A>G (p.Glu959Gly) c.7919A>G (p.Glu2640Gly) n.1848A>G c.8048A>G (p.Glu2683Gly) | |
2 | g.73490004A>T | CA347267118 | ALMS1 | c.7664A>T (p.Glu2555Val) c.1056A>T c.5116A>T c.2111A>T (p.Glu704Val) c.8045A>T (p.Glu2682Val) c.896-29771A>T c.2876A>T (p.Glu959Val) c.7919A>T (p.Glu2640Val) n.1848A>T c.8048A>T (p.Glu2683Val) | |
2 | g.73490005A>C | CA347267120 | ALMS1 | c.7665A>C (p.Glu2555Asp) c.1057A>C c.5117A>C c.2112A>C (p.Glu704Asp) c.8046A>C (p.Glu2682Asp) c.896-29770A>C c.2877A>C (p.Glu959Asp) c.7920A>C (p.Glu2640Asp) n.1849A>C c.8049A>C (p.Glu2683Asp) | |
2 | g.73490005A>G | CA427000752 | ALMS1 | c.7665A>G (p.Glu2555=) c.1057A>G c.5117A>G c.2112A>G (p.Glu704=) c.8046A>G (p.Glu2682=) c.896-29770A>G c.2877A>G (p.Glu959=) c.7920A>G (p.Glu2640=) n.1849A>G c.8049A>G (p.Glu2683=) | gnomAD v4 |
2 | g.73490005A>T | CA347267121 | ALMS1 | c.7665A>T (p.Glu2555Asp) c.1057A>T c.5117A>T c.2112A>T (p.Glu704Asp) c.8046A>T (p.Glu2682Asp) c.896-29770A>T c.2877A>T (p.Glu959Asp) c.7920A>T (p.Glu2640Asp) n.1849A>T c.8049A>T (p.Glu2683Asp) | |
2 | g.73490006_73490013dup | CA2577005007 | ALMS1 | c.7666_7673dup (p.Glu2558AspfsTer2) c.1058_1065dup c.5118_5125dup c.2113_2120dup (p.Glu707AspfsTer2) c.8047_8054dup (p.Glu2685AspfsTer2) c.896-29769_896-29762dup c.2878_2885dup (p.Glu962AspfsTer2) c.7921_7928dup (p.Glu2643AspfsTer2) n.1850_1857dup c.8050_8057dup (p.Glu2686AspfsTer2) | |
2 | g.73490006T>A | CA50377928 | ALMS1 | c.7666T>A (p.Leu2556Ile) c.1058T>A c.5118T>A c.2113T>A (p.Leu705Ile) c.8047T>A (p.Leu2683Ile) c.896-29769T>A c.2878T>A (p.Leu960Ile) c.7921T>A (p.Leu2641Ile) n.1850T>A c.8050T>A (p.Leu2684Ile) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490006T>C | CA427000753 | ALMS1 | c.7666T>C (p.Leu2556=) c.1058T>C c.5118T>C c.2113T>C (p.Leu705=) c.8047T>C (p.Leu2683=) c.896-29769T>C c.2878T>C (p.Leu960=) c.7921T>C (p.Leu2641=) n.1850T>C c.8050T>C (p.Leu2684=) | |
2 | g.73490006T>G | CA347267126 | ALMS1 | c.7666T>G (p.Leu2556Val) c.1058T>G c.5118T>G c.2113T>G (p.Leu705Val) c.8047T>G (p.Leu2683Val) c.896-29769T>G c.2878T>G (p.Leu960Val) c.7921T>G (p.Leu2641Val) n.1850T>G c.8050T>G (p.Leu2684Val) | |
2 | g.73490006T= | CA1260981272 | ALMS1 | c.7666T= (p.Leu2556=) c.1058T= c.5118T= c.2113T= (p.Leu705=) c.8047T= (p.Leu2683=) c.896-29769T= c.2878T= (p.Leu960=) c.7921T= (p.Leu2641=) n.1850T= c.8050T= (p.Leu2684=) | |
2 | g.73490007T>A | CA347267129 | ALMS1 | c.7667T>A (p.Leu2556Ter) c.1059T>A c.5119T>A c.2114T>A (p.Leu705Ter) c.8048T>A (p.Leu2683Ter) c.896-29768T>A c.2879T>A (p.Leu960Ter) c.7922T>A (p.Leu2641Ter) n.1851T>A c.8051T>A (p.Leu2684Ter) | |
2 | g.73490007T>C | CA347267130 | ALMS1 | c.7667T>C (p.Leu2556Ser) c.1059T>C c.5119T>C c.2114T>C (p.Leu705Ser) c.8048T>C (p.Leu2683Ser) c.896-29768T>C c.2879T>C (p.Leu960Ser) c.7922T>C (p.Leu2641Ser) n.1851T>C c.8051T>C (p.Leu2684Ser) | |
2 | g.73490007T>G | CA347267134 | ALMS1 | c.7667T>G (p.Leu2556Ter) c.1059T>G c.5119T>G c.2114T>G (p.Leu705Ter) c.8048T>G (p.Leu2683Ter) c.896-29768T>G c.2879T>G (p.Leu960Ter) c.7922T>G (p.Leu2641Ter) n.1851T>G c.8051T>G (p.Leu2684Ter) | |
2 | g.73490010_73490012del | CA2845022176 | ALMS1 | c.7670_7672del (p.Val2557del) c.1062_1064del c.5122_5124del c.2117_2119del (p.Val706del) c.8051_8053del (p.Val2684del) c.896-29765_896-29763del c.2882_2884del (p.Val961del) c.7925_7927del (p.Val2642del) n.1854_1856del c.8054_8056del (p.Val2685del) | |
2 | g.73490008A= | CA1260981275 | ALMS1 | c.7668A= (p.Leu2556=) c.1060A= c.5120A= c.2115A= (p.Leu705=) c.8049A= (p.Leu2683=) c.896-29767A= c.2880A= (p.Leu960=) c.7923A= (p.Leu2641=) n.1852A= c.8052A= (p.Leu2684=) | |
2 | g.73490008A>C | CA347267137 | ALMS1 | c.7668A>C (p.Leu2556Phe) c.1060A>C c.5120A>C c.2115A>C (p.Leu705Phe) c.8049A>C (p.Leu2683Phe) c.896-29767A>C c.2880A>C (p.Leu960Phe) c.7923A>C (p.Leu2641Phe) n.1852A>C c.8052A>C (p.Leu2684Phe) | gnomAD v4 |
2 | g.73490008A>G | CA427000754 | ALMS1 | c.7668A>G (p.Leu2556=) c.1060A>G c.5120A>G c.2115A>G (p.Leu705=) c.8049A>G (p.Leu2683=) c.896-29767A>G c.2880A>G (p.Leu960=) c.7923A>G (p.Leu2641=) n.1852A>G c.8052A>G (p.Leu2684=) | dbSNP |
2 | g.73490008A>T | CA347267139 | ALMS1 | c.7668A>T (p.Leu2556Phe) c.1060A>T c.5120A>T c.2115A>T (p.Leu705Phe) c.8049A>T (p.Leu2683Phe) c.896-29767A>T c.2880A>T (p.Leu960Phe) c.7923A>T (p.Leu2641Phe) n.1852A>T c.8052A>T (p.Leu2684Phe) | |
2 | g.73490009G>A | CA347267146 | ALMS1 | c.7669G>A (p.Val2557Ile) c.1061G>A c.5121G>A c.2116G>A (p.Val706Ile) c.8050G>A (p.Val2684Ile) c.896-29766G>A c.2881G>A (p.Val961Ile) c.7924G>A (p.Val2642Ile) n.1853G>A c.8053G>A (p.Val2685Ile) | dbSNP |
2 | g.73490009G>C | CA347267142 | ALMS1 | c.7669G>C (p.Val2557Leu) c.1061G>C c.5121G>C c.2116G>C (p.Val706Leu) c.8050G>C (p.Val2684Leu) c.896-29766G>C c.2881G>C (p.Val961Leu) c.7924G>C (p.Val2642Leu) n.1853G>C c.8053G>C (p.Val2685Leu) | |
2 | g.73490009G= | CA1260981278 | ALMS1 | c.7669G= (p.Val2557=) c.1061G= c.5121G= c.2116G= (p.Val706=) c.8050G= (p.Val2684=) c.896-29766G= c.2881G= (p.Val961=) c.7924G= (p.Val2642=) n.1853G= c.8053G= (p.Val2685=) | |
2 | g.73490009G>T | CA347267143 | ALMS1 | c.7669G>T (p.Val2557Leu) c.1061G>T c.5121G>T c.2116G>T (p.Val706Leu) c.8050G>T (p.Val2684Leu) c.896-29766G>T c.2881G>T (p.Val961Leu) c.7924G>T (p.Val2642Leu) n.1853G>T c.8053G>T (p.Val2685Leu) | |
2 | g.73490010T>A | CA347267148 | ALMS1 | c.7670T>A (p.Val2557Glu) c.1062T>A c.5122T>A c.2117T>A (p.Val706Glu) c.8051T>A (p.Val2684Glu) c.896-29765T>A c.2882T>A (p.Val961Glu) c.7925T>A (p.Val2642Glu) n.1854T>A c.8054T>A (p.Val2685Glu) | |
2 | g.73490010T>C | CA347267150 | ALMS1 | c.7670T>C (p.Val2557Ala) c.1062T>C c.5122T>C c.2117T>C (p.Val706Ala) c.8051T>C (p.Val2684Ala) c.896-29765T>C c.2882T>C (p.Val961Ala) c.7925T>C (p.Val2642Ala) n.1854T>C c.8054T>C (p.Val2685Ala) | |
2 | g.73490010T>G | CA347267154 | ALMS1 | c.7670T>G (p.Val2557Gly) c.1062T>G c.5122T>G c.2117T>G (p.Val706Gly) c.8051T>G (p.Val2684Gly) c.896-29765T>G c.2882T>G (p.Val961Gly) c.7925T>G (p.Val2642Gly) n.1854T>G c.8054T>G (p.Val2685Gly) | |
2 | g.73490011A>C | CA427000755 | ALMS1 | c.7671A>C (p.Val2557=) c.1063A>C c.5123A>C c.2118A>C (p.Val706=) c.8052A>C (p.Val2684=) c.896-29764A>C c.2883A>C (p.Val961=) c.7926A>C (p.Val2642=) n.1855A>C c.8055A>C (p.Val2685=) | |
2 | g.73490011A>G | CA427000756 | ALMS1 | c.7671A>G (p.Val2557=) c.1063A>G c.5123A>G c.2118A>G (p.Val706=) c.8052A>G (p.Val2684=) c.896-29764A>G c.2883A>G (p.Val961=) c.7926A>G (p.Val2642=) n.1855A>G c.8055A>G (p.Val2685=) | ClinVar dbSNP gnomAD v4 |
2 | g.73490011A>T | CA427000757 | ALMS1 | c.7671A>T (p.Val2557=) c.1063A>T c.5123A>T c.2118A>T (p.Val706=) c.8052A>T (p.Val2684=) c.896-29764A>T c.2883A>T (p.Val961=) c.7926A>T (p.Val2642=) n.1855A>T c.8055A>T (p.Val2685=) | |
2 | g.73490012G>A | CA347267157 | ALMS1 | c.7672G>A (p.Glu2558Lys) c.1064G>A c.5124G>A c.2119G>A (p.Glu707Lys) c.8053G>A (p.Glu2685Lys) c.896-29763G>A c.2884G>A (p.Glu962Lys) c.7927G>A (p.Glu2643Lys) n.1856G>A c.8056G>A (p.Glu2686Lys) | gnomAD v4 |
2 | g.73490012G>C | CA347267159 | ALMS1 | c.7672G>C (p.Glu2558Gln) c.1064G>C c.5124G>C c.2119G>C (p.Glu707Gln) c.8053G>C (p.Glu2685Gln) c.896-29763G>C c.2884G>C (p.Glu962Gln) c.7927G>C (p.Glu2643Gln) n.1856G>C c.8056G>C (p.Glu2686Gln) | |
2 | g.73490012G>T | CA347267162 | ALMS1 | c.7672G>T (p.Glu2558Ter) c.1064G>T c.5124G>T c.2119G>T (p.Glu707Ter) c.8053G>T (p.Glu2685Ter) c.896-29763G>T c.2884G>T (p.Glu962Ter) c.7927G>T (p.Glu2643Ter) n.1856G>T c.8056G>T (p.Glu2686Ter) | |
2 | g.73490013A>C | CA347267165 | ALMS1 | c.7673A>C (p.Glu2558Ala) c.1065A>C c.5125A>C c.2120A>C (p.Glu707Ala) c.8054A>C (p.Glu2685Ala) c.896-29762A>C c.2885A>C (p.Glu962Ala) c.7928A>C (p.Glu2643Ala) n.1857A>C c.8057A>C (p.Glu2686Ala) | |
2 | g.73490013A>G | CA347267169 | ALMS1 | c.7673A>G (p.Glu2558Gly) c.1065A>G c.5125A>G c.2120A>G (p.Glu707Gly) c.8054A>G (p.Glu2685Gly) c.896-29762A>G c.2885A>G (p.Glu962Gly) c.7928A>G (p.Glu2643Gly) n.1857A>G c.8057A>G (p.Glu2686Gly) | |
2 | g.73490013A>T | CA347267171 | ALMS1 | c.7673A>T (p.Glu2558Val) c.1065A>T c.5125A>T c.2120A>T (p.Glu707Val) c.8054A>T (p.Glu2685Val) c.896-29762A>T c.2885A>T (p.Glu962Val) c.7928A>T (p.Glu2643Val) n.1857A>T c.8057A>T (p.Glu2686Val) | |
2 | g.73490014A>C | CA347267174 | ALMS1 | c.7674A>C (p.Glu2558Asp) c.1066A>C c.5126A>C c.2121A>C (p.Glu707Asp) c.8055A>C (p.Glu2685Asp) c.896-29761A>C c.2886A>C (p.Glu962Asp) c.7929A>C (p.Glu2643Asp) n.1858A>C c.8058A>C (p.Glu2686Asp) | |
2 | g.73490014A>G | CA427000758 | ALMS1 | c.7674A>G (p.Glu2558=) c.1066A>G c.5126A>G c.2121A>G (p.Glu707=) c.8055A>G (p.Glu2685=) c.896-29761A>G c.2886A>G (p.Glu962=) c.7929A>G (p.Glu2643=) n.1858A>G c.8058A>G (p.Glu2686=) | |
2 | g.73490014A>T | CA347267176 | ALMS1 | c.7674A>T (p.Glu2558Asp) c.1066A>T c.5126A>T c.2121A>T (p.Glu707Asp) c.8055A>T (p.Glu2685Asp) c.896-29761A>T c.2886A>T (p.Glu962Asp) c.7929A>T (p.Glu2643Asp) n.1858A>T c.8058A>T (p.Glu2686Asp) | gnomAD v4 |
2 | g.73490015C>A | CA347267178 | ALMS1 | c.7675C>A (p.Pro2559Thr) c.1067C>A c.5127C>A c.2122C>A (p.Pro708Thr) c.8056C>A (p.Pro2686Thr) c.896-29760C>A c.2887C>A (p.Pro963Thr) c.7930C>A (p.Pro2644Thr) n.1859C>A c.8059C>A (p.Pro2687Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490015C= | CA1260981281 | ALMS1 | c.7675C= (p.Pro2559=) c.1067C= c.5127C= c.2122C= (p.Pro708=) c.8056C= (p.Pro2686=) c.896-29760C= c.2887C= (p.Pro963=) c.7930C= (p.Pro2644=) n.1859C= c.8059C= (p.Pro2687=) | |
2 | g.73490015C>G | CA347267183 | ALMS1 | c.7675C>G (p.Pro2559Ala) c.1067C>G c.5127C>G c.2122C>G (p.Pro708Ala) c.8056C>G (p.Pro2686Ala) c.896-29760C>G c.2887C>G (p.Pro963Ala) c.7930C>G (p.Pro2644Ala) n.1859C>G c.8059C>G (p.Pro2687Ala) | dbSNP |
2 | g.73490015C>T | CA347267181 | ALMS1 | c.7675C>T (p.Pro2559Ser) c.1067C>T c.5127C>T c.2122C>T (p.Pro708Ser) c.8056C>T (p.Pro2686Ser) c.896-29760C>T c.2887C>T (p.Pro963Ser) c.7930C>T (p.Pro2644Ser) n.1859C>T c.8059C>T (p.Pro2687Ser) | gnomAD v4 |
2 | g.73490016C>A | CA347267186 | ALMS1 | c.7676C>A (p.Pro2559His) c.1068C>A c.5128C>A c.2123C>A (p.Pro708His) c.8057C>A (p.Pro2686His) c.896-29759C>A c.2888C>A (p.Pro963His) c.7931C>A (p.Pro2644His) n.1860C>A c.8060C>A (p.Pro2687His) | |
2 | g.73490016C= | CA1260981284 | ALMS1 | c.7676C= (p.Pro2559=) c.1068C= c.5128C= c.2123C= (p.Pro708=) c.8057C= (p.Pro2686=) c.896-29759C= c.2888C= (p.Pro963=) c.7931C= (p.Pro2644=) n.1860C= c.8060C= (p.Pro2687=) | |
2 | g.73490016C>G | CA347267191 | ALMS1 | c.7676C>G (p.Pro2559Arg) c.1068C>G c.5128C>G c.2123C>G (p.Pro708Arg) c.8057C>G (p.Pro2686Arg) c.896-29759C>G c.2888C>G (p.Pro963Arg) c.7931C>G (p.Pro2644Arg) n.1860C>G c.8060C>G (p.Pro2687Arg) | |
2 | g.73490016C>T | CA347267187 | ALMS1 | c.7676C>T (p.Pro2559Leu) c.1068C>T c.5128C>T c.2123C>T (p.Pro708Leu) c.8057C>T (p.Pro2686Leu) c.896-29759C>T c.2888C>T (p.Pro963Leu) c.7931C>T (p.Pro2644Leu) n.1860C>T c.8060C>T (p.Pro2687Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73490017T>A | CA427000759 | ALMS1 | c.7677T>A (p.Pro2559=) c.1069T>A c.5129T>A c.2124T>A (p.Pro708=) c.8058T>A (p.Pro2686=) c.896-29758T>A c.2889T>A (p.Pro963=) c.7932T>A (p.Pro2644=) n.1861T>A c.8061T>A (p.Pro2687=) | |
2 | g.73490017T>C | CA427000760 | ALMS1 | c.7677T>C (p.Pro2559=) c.1069T>C c.5129T>C c.2124T>C (p.Pro708=) c.8058T>C (p.Pro2686=) c.896-29758T>C c.2889T>C (p.Pro963=) c.7932T>C (p.Pro2644=) n.1861T>C c.8061T>C (p.Pro2687=) | |
2 | g.73490017T>G | CA427000761 | ALMS1 | c.7677T>G (p.Pro2559=) c.1069T>G c.5129T>G c.2124T>G (p.Pro708=) c.8058T>G (p.Pro2686=) c.896-29758T>G c.2889T>G (p.Pro963=) c.7932T>G (p.Pro2644=) n.1861T>G c.8061T>G (p.Pro2687=) | |
2 | g.73490018G>A | CA50377934 | ALMS1 | c.7678G>A (p.Ala2560Thr) c.1070G>A c.5130G>A c.2125G>A (p.Ala709Thr) c.8059G>A (p.Ala2687Thr) c.896-29757G>A c.2890G>A (p.Ala964Thr) c.7933G>A (p.Ala2645Thr) n.1862G>A c.8062G>A (p.Ala2688Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73490018G>C | CA347267195 | ALMS1 | c.7678G>C (p.Ala2560Pro) c.1070G>C c.5130G>C c.2125G>C (p.Ala709Pro) c.8059G>C (p.Ala2687Pro) c.896-29757G>C c.2890G>C (p.Ala964Pro) c.7933G>C (p.Ala2645Pro) n.1862G>C c.8062G>C (p.Ala2688Pro) | |
2 | g.73490018G= | CA1260981287 | ALMS1 | c.7678G= (p.Ala2560=) c.1070G= c.5130G= c.2125G= (p.Ala709=) c.8059G= (p.Ala2687=) c.896-29757G= c.2890G= (p.Ala964=) c.7933G= (p.Ala2645=) n.1862G= c.8062G= (p.Ala2688=) | |
2 | g.73490018G>T | CA347267197 | ALMS1 | c.7678G>T (p.Ala2560Ser) c.1070G>T c.5130G>T c.2125G>T (p.Ala709Ser) c.8059G>T (p.Ala2687Ser) c.896-29757G>T c.2890G>T (p.Ala964Ser) c.7933G>T (p.Ala2645Ser) n.1862G>T c.8062G>T (p.Ala2688Ser) | gnomAD v4 |
2 | g.73490019C>A | CA347267201 | ALMS1 | c.7679C>A (p.Ala2560Asp) c.1071C>A c.5131C>A c.2126C>A (p.Ala709Asp) c.8060C>A (p.Ala2687Asp) c.896-29756C>A c.2891C>A (p.Ala964Asp) c.7934C>A (p.Ala2645Asp) n.1863C>A c.8063C>A (p.Ala2688Asp) | |
2 | g.73490019C>G | CA347267207 | ALMS1 | c.7679C>G (p.Ala2560Gly) c.1071C>G c.5131C>G c.2126C>G (p.Ala709Gly) c.8060C>G (p.Ala2687Gly) c.896-29756C>G c.2891C>G (p.Ala964Gly) c.7934C>G (p.Ala2645Gly) n.1863C>G c.8063C>G (p.Ala2688Gly) | |
2 | g.73490019C>T | CA347267209 | ALMS1 | c.7679C>T (p.Ala2560Val) c.1071C>T c.5131C>T c.2126C>T (p.Ala709Val) c.8060C>T (p.Ala2687Val) c.896-29756C>T c.2891C>T (p.Ala964Val) c.7934C>T (p.Ala2645Val) n.1863C>T c.8063C>T (p.Ala2688Val) | gnomAD v4 |
2 | g.73490020T>A | CA427000762 | ALMS1 | c.7680T>A (p.Ala2560=) c.1072T>A c.5132T>A c.2127T>A (p.Ala709=) c.8061T>A (p.Ala2687=) c.896-29755T>A c.2892T>A (p.Ala964=) c.7935T>A (p.Ala2645=) n.1864T>A c.8064T>A (p.Ala2688=) | ClinVar |
2 | g.73490020T>C | CA427000763 | ALMS1 | c.7680T>C (p.Ala2560=) c.1072T>C c.5132T>C c.2127T>C (p.Ala709=) c.8061T>C (p.Ala2687=) c.896-29755T>C c.2892T>C (p.Ala964=) c.7935T>C (p.Ala2645=) n.1864T>C c.8064T>C (p.Ala2688=) | |
2 | g.73490020T>G | CA427000764 | ALMS1 | c.7680T>G (p.Ala2560=) c.1072T>G c.5132T>G c.2127T>G (p.Ala709=) c.8061T>G (p.Ala2687=) c.896-29755T>G c.2892T>G (p.Ala964=) c.7935T>G (p.Ala2645=) n.1864T>G c.8064T>G (p.Ala2688=) | |
2 | g.73490021T>A | CA347267226 | ALMS1 | c.7681T>A (p.Phe2561Ile) c.1073T>A c.5133T>A c.2128T>A (p.Phe710Ile) c.8062T>A (p.Phe2688Ile) c.896-29754T>A c.2893T>A (p.Phe965Ile) c.7936T>A (p.Phe2646Ile) n.1865T>A c.8065T>A (p.Phe2689Ile) | |
2 | g.73490021T>C | CA347267215 | ALMS1 | c.7681T>C (p.Phe2561Leu) c.1073T>C c.5133T>C c.2128T>C (p.Phe710Leu) c.8062T>C (p.Phe2688Leu) c.896-29754T>C c.2893T>C (p.Phe965Leu) c.7936T>C (p.Phe2646Leu) n.1865T>C c.8065T>C (p.Phe2689Leu) | |
2 | g.73490021T>G | CA347267223 | ALMS1 | c.7681T>G (p.Phe2561Val) c.1073T>G c.5133T>G c.2128T>G (p.Phe710Val) c.8062T>G (p.Phe2688Val) c.896-29754T>G c.2893T>G (p.Phe965Val) c.7936T>G (p.Phe2646Val) n.1865T>G c.8065T>G (p.Phe2689Val) | |
2 | g.73490022T>A | CA347267229 | ALMS1 | c.7682T>A (p.Phe2561Tyr) c.1074T>A c.5134T>A c.2129T>A (p.Phe710Tyr) c.8063T>A (p.Phe2688Tyr) c.896-29753T>A c.2894T>A (p.Phe965Tyr) c.7937T>A (p.Phe2646Tyr) n.1866T>A c.8066T>A (p.Phe2689Tyr) | |
2 | g.73490022T>C | CA347267233 | ALMS1 | c.7682T>C (p.Phe2561Ser) c.1074T>C c.5134T>C c.2129T>C (p.Phe710Ser) c.8063T>C (p.Phe2688Ser) c.896-29753T>C c.2894T>C (p.Phe965Ser) c.7937T>C (p.Phe2646Ser) n.1866T>C c.8066T>C (p.Phe2689Ser) | gnomAD v4 |
2 | g.73490022T>G | CA347267238 | ALMS1 | c.7682T>G (p.Phe2561Cys) c.1074T>G c.5134T>G c.2129T>G (p.Phe710Cys) c.8063T>G (p.Phe2688Cys) c.896-29753T>G c.2894T>G (p.Phe965Cys) c.7937T>G (p.Phe2646Cys) n.1866T>G c.8066T>G (p.Phe2689Cys) | |
2 | g.73490023T>A | CA347267242 | ALMS1 | c.7683T>A (p.Phe2561Leu) c.1075T>A c.5135T>A c.2130T>A (p.Phe710Leu) c.8064T>A (p.Phe2688Leu) c.896-29752T>A c.2895T>A (p.Phe965Leu) c.7938T>A (p.Phe2646Leu) n.1867T>A c.8067T>A (p.Phe2689Leu) | |
2 | g.73490023T>C | CA427000765 | ALMS1 | c.7683T>C (p.Phe2561=) c.1075T>C c.5135T>C c.2130T>C (p.Phe710=) c.8064T>C (p.Phe2688=) c.896-29752T>C c.2895T>C (p.Phe965=) c.7938T>C (p.Phe2646=) n.1867T>C c.8067T>C (p.Phe2689=) | |
2 | g.73490023T>G | CA347267243 | ALMS1 | c.7683T>G (p.Phe2561Leu) c.1075T>G c.5135T>G c.2130T>G (p.Phe710Leu) c.8064T>G (p.Phe2688Leu) c.896-29752T>G c.2895T>G (p.Phe965Leu) c.7938T>G (p.Phe2646Leu) n.1867T>G c.8067T>G (p.Phe2689Leu) | |
2 | g.73490024G>A | CA347267251 | ALMS1 | c.7684G>A (p.Val2562Met) c.1076G>A c.5136G>A c.2131G>A (p.Val711Met) c.8065G>A (p.Val2689Met) c.896-29751G>A c.2896G>A (p.Val966Met) c.7939G>A (p.Val2647Met) n.1868G>A c.8068G>A (p.Val2690Met) | dbSNP gnomAD v4 |
2 | g.73490024G>C | CA347267247 | ALMS1 | c.7684G>C (p.Val2562Leu) c.1076G>C c.5136G>C c.2131G>C (p.Val711Leu) c.8065G>C (p.Val2689Leu) c.896-29751G>C c.2896G>C (p.Val966Leu) c.7939G>C (p.Val2647Leu) n.1868G>C c.8068G>C (p.Val2690Leu) | |
2 | g.73490024G= | CA1260981291 | ALMS1 | c.7684G= (p.Val2562=) c.1076G= c.5136G= c.2131G= (p.Val711=) c.8065G= (p.Val2689=) c.896-29751G= c.2896G= (p.Val966=) c.7939G= (p.Val2647=) n.1868G= c.8068G= (p.Val2690=) | |
2 | g.73490024G>T | CA347267249 | ALMS1 | c.7684G>T (p.Val2562Leu) c.1076G>T c.5136G>T c.2131G>T (p.Val711Leu) c.8065G>T (p.Val2689Leu) c.896-29751G>T c.2896G>T (p.Val966Leu) c.7939G>T (p.Val2647Leu) n.1868G>T c.8068G>T (p.Val2690Leu) | dbSNP |
2 | g.73490025T>A | CA347267259 | ALMS1 | c.7685T>A (p.Val2562Glu) c.1077T>A c.5137T>A c.2132T>A (p.Val711Glu) c.8066T>A (p.Val2689Glu) c.896-29750T>A c.2897T>A (p.Val966Glu) c.7940T>A (p.Val2647Glu) n.1869T>A c.8069T>A (p.Val2690Glu) | |
2 | g.73490025T>C | CA347267263 | ALMS1 | c.7685T>C (p.Val2562Ala) c.1077T>C c.5137T>C c.2132T>C (p.Val711Ala) c.8066T>C (p.Val2689Ala) c.896-29750T>C c.2897T>C (p.Val966Ala) c.7940T>C (p.Val2647Ala) n.1869T>C c.8069T>C (p.Val2690Ala) | gnomAD v4 |
2 | g.73490025T>G | CA347267265 | ALMS1 | c.7685T>G (p.Val2562Gly) c.1077T>G c.5137T>G c.2132T>G (p.Val711Gly) c.8066T>G (p.Val2689Gly) c.896-29750T>G c.2897T>G (p.Val966Gly) c.7940T>G (p.Val2647Gly) n.1869T>G c.8069T>G (p.Val2690Gly) | |
2 | g.73490026G>A | CA427000766 | ALMS1 | c.7686G>A (p.Val2562=) c.1078G>A c.5138G>A c.2133G>A (p.Val711=) c.8067G>A (p.Val2689=) c.896-29749G>A c.2898G>A (p.Val966=) c.7941G>A (p.Val2647=) n.1870G>A c.8070G>A (p.Val2690=) | |
2 | g.73490026G>C | CA427000767 | ALMS1 | c.7686G>C (p.Val2562=) c.1078G>C c.5138G>C c.2133G>C (p.Val711=) c.8067G>C (p.Val2689=) c.896-29749G>C c.2898G>C (p.Val966=) c.7941G>C (p.Val2647=) n.1870G>C c.8070G>C (p.Val2690=) | |
2 | g.73490026G>T | CA427000768 | ALMS1 | c.7686G>T (p.Val2562=) c.1078G>T c.5138G>T c.2133G>T (p.Val711=) c.8067G>T (p.Val2689=) c.896-29749G>T c.2898G>T (p.Val966=) c.7941G>T (p.Val2647=) n.1870G>T c.8070G>T (p.Val2690=) | |
2 | g.73490027C>A | CA347267267 | ALMS1 | c.7687C>A (p.Pro2563Thr) c.1079C>A c.5139C>A c.2134C>A (p.Pro712Thr) c.8068C>A (p.Pro2690Thr) c.896-29748C>A c.2899C>A (p.Pro967Thr) c.7942C>A (p.Pro2648Thr) n.1871C>A c.8071C>A (p.Pro2691Thr) | |
2 | g.73490027C= | CA1260981296 | ALMS1 | c.7687C= (p.Pro2563=) c.1079C= c.5139C= c.2134C= (p.Pro712=) c.8068C= (p.Pro2690=) c.896-29748C= c.2899C= (p.Pro967=) c.7942C= (p.Pro2648=) n.1871C= c.8071C= (p.Pro2691=) | |
2 | g.73490027C>G | CA347267269 | ALMS1 | c.7687C>G (p.Pro2563Ala) c.1079C>G c.5139C>G c.2134C>G (p.Pro712Ala) c.8068C>G (p.Pro2690Ala) c.896-29748C>G c.2899C>G (p.Pro967Ala) c.7942C>G (p.Pro2648Ala) n.1871C>G c.8071C>G (p.Pro2691Ala) | ClinVar |
2 | g.73490027C>T | CA50377959 | ALMS1 | c.7687C>T (p.Pro2563Ser) c.1079C>T c.5139C>T c.2134C>T (p.Pro712Ser) c.8068C>T (p.Pro2690Ser) c.896-29748C>T c.2899C>T (p.Pro967Ser) c.7942C>T (p.Pro2648Ser) n.1871C>T c.8071C>T (p.Pro2691Ser) | dbSNP gnomAD v4 |