Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.73572227dup | CA2843066962 | ALMS1 | c.10004-35dup (n.10004-35dup) c.3090-35dup c.7285-35dup c.4451-35dup (n.4451-35dup) c.7330-35dup c.10385-35dup (n.10385-35dup) c.539-35dup (n.539-35dup) c.1741-35dup c.1482-35dup c.3876-35dup (n.3876-35dup) c.10259-35dup (n.10259-35dup) n.4188-35dup c.10388-35dup (n.10388-35dup) | |
2 | g.73572225_73572230delinsTTTAAG | CA1261020715 | ALMS1 | c.10004-37_10004-32delinsTTTAAG (n.10004-37_10004-32delinsTTTAAG) c.3090-37_3090-32delinsTTTAAG c.7285-37_7285-32delinsTTTAAG c.4451-37_4451-32delinsTTTAAG (n.4451-37_4451-32delinsTTTAAG) c.7330-37_7330-32delinsTTTAAG c.10385-37_10385-32delinsTTTAAG (n.10385-37_10385-32delinsTTTAAG) c.539-37_539-32delinsTTTAAG (n.539-37_539-32delinsTTTAAG) c.1741-37_1741-32delinsTTTAAG c.1482-37_1482-32delinsTTTAAG c.3876-37_3876-32delinsTTTAAG (n.3876-37_3876-32delinsTTTAAG) c.10259-37_10259-32delinsTTTAAG (n.10259-37_10259-32delinsTTTAAG) n.4188-37_4188-32delinsTTTAAG c.10388-37_10388-32delinsTTTAAG (n.10388-37_10388-32delinsTTTAAG) | |
2 | g.73572228_73572232del | CA892825348 | ALMS1 | c.10004-34_10004-30del (n.10004-34_10004-30del) c.3090-34_3090-30del c.7285-34_7285-30del c.4451-34_4451-30del (n.4451-34_4451-30del) c.7330-34_7330-30del c.10385-34_10385-30del (n.10385-34_10385-30del) c.539-34_539-30del (n.539-34_539-30del) c.1741-34_1741-30del c.1482-34_1482-30del c.3876-34_3876-30del (n.3876-34_3876-30del) c.10259-34_10259-30del (n.10259-34_10259-30del) n.4188-34_4188-30del c.10388-34_10388-30del (n.10388-34_10388-30del) | dbSNP |
2 | g.73572227T>A | CA1714988 | ALMS1 | c.10004-35T>A (n.10004-35T>A) c.3090-35T>A c.7285-35T>A c.4451-35T>A (n.4451-35T>A) c.7330-35T>A c.10385-35T>A (n.10385-35T>A) c.539-35T>A (n.539-35T>A) c.1741-35T>A c.1482-35T>A c.3876-35T>A (n.3876-35T>A) c.10259-35T>A (n.10259-35T>A) n.4188-35T>A c.10388-35T>A (n.10388-35T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572227T= | CA1261020718 | ALMS1 | c.10004-35T= (n.10004-35T=) c.3090-35T= c.7285-35T= c.4451-35T= (n.4451-35T=) c.7330-35T= c.10385-35T= (n.10385-35T=) c.539-35T= (n.539-35T=) c.1741-35T= c.1482-35T= c.3876-35T= (n.3876-35T=) c.10259-35T= (n.10259-35T=) n.4188-35T= c.10388-35T= (n.10388-35T=) | |
2 | g.73572229A= | CA1261020722 | ALMS1 | c.10004-33A= (n.10004-33A=) c.3090-33A= c.7285-33A= c.4451-33A= (n.4451-33A=) c.7330-33A= c.10385-33A= (n.10385-33A=) c.539-33A= (n.539-33A=) c.1741-33A= c.1482-33A= c.3876-33A= (n.3876-33A=) c.10259-33A= (n.10259-33A=) n.4188-33A= c.10388-33A= (n.10388-33A=) | |
2 | g.73572229A>G | CA2659616736 | ALMS1 | c.10004-33A>G (n.10004-33A>G) c.3090-33A>G c.7285-33A>G c.4451-33A>G (n.4451-33A>G) c.7330-33A>G c.10385-33A>G (n.10385-33A>G) c.539-33A>G (n.539-33A>G) c.1741-33A>G c.1482-33A>G c.3876-33A>G (n.3876-33A>G) c.10259-33A>G (n.10259-33A>G) n.4188-33A>G c.10388-33A>G (n.10388-33A>G) | gnomAD v4 |
2 | g.73572229A>T | CA1261020721 | ALMS1 | c.10004-33A>T (n.10004-33A>T) c.3090-33A>T c.7285-33A>T c.4451-33A>T (n.4451-33A>T) c.7330-33A>T c.10385-33A>T (n.10385-33A>T) c.539-33A>T (n.539-33A>T) c.1741-33A>T c.1482-33A>T c.3876-33A>T (n.3876-33A>T) c.10259-33A>T (n.10259-33A>T) n.4188-33A>T c.10388-33A>T (n.10388-33A>T) | dbSNP |
2 | g.73572230G>A | CA2750467736 | ALMS1 | c.10004-32G>A (n.10004-32G>A) c.3090-32G>A c.7285-32G>A c.4451-32G>A (n.4451-32G>A) c.7330-32G>A c.10385-32G>A (n.10385-32G>A) c.539-32G>A (n.539-32G>A) c.1741-32G>A c.1482-32G>A c.3876-32G>A (n.3876-32G>A) c.10259-32G>A (n.10259-32G>A) n.4188-32G>A c.10388-32G>A (n.10388-32G>A) | |
2 | g.73572230G>C | CA1261020728 | ALMS1 | c.10004-32G>C (n.10004-32G>C) c.3090-32G>C c.7285-32G>C c.4451-32G>C (n.4451-32G>C) c.7330-32G>C c.10385-32G>C (n.10385-32G>C) c.539-32G>C (n.539-32G>C) c.1741-32G>C c.1482-32G>C c.3876-32G>C (n.3876-32G>C) c.10259-32G>C (n.10259-32G>C) n.4188-32G>C c.10388-32G>C (n.10388-32G>C) | dbSNP |
2 | g.73572230G= | CA1261020725 | ALMS1 | c.10004-32G= (n.10004-32G=) c.3090-32G= c.7285-32G= c.4451-32G= (n.4451-32G=) c.7330-32G= c.10385-32G= (n.10385-32G=) c.539-32G= (n.539-32G=) c.1741-32G= c.1482-32G= c.3876-32G= (n.3876-32G=) c.10259-32G= (n.10259-32G=) n.4188-32G= c.10388-32G= (n.10388-32G=) | |
2 | g.73572230G>T | CA534124479 | ALMS1 | c.10004-32G>T (n.10004-32G>T) c.3090-32G>T c.7285-32G>T c.4451-32G>T (n.4451-32G>T) c.7330-32G>T c.10385-32G>T (n.10385-32G>T) c.539-32G>T (n.539-32G>T) c.1741-32G>T c.1482-32G>T c.3876-32G>T (n.3876-32G>T) c.10259-32G>T (n.10259-32G>T) n.4188-32G>T c.10388-32G>T (n.10388-32G>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572233C>A | CA1261020731 | ALMS1 | c.10004-29C>A (n.10004-29C>A) c.3090-29C>A c.7285-29C>A c.4451-29C>A (n.4451-29C>A) c.7330-29C>A c.10385-29C>A (n.10385-29C>A) c.539-29C>A (n.539-29C>A) c.1741-29C>A c.1482-29C>A c.3876-29C>A (n.3876-29C>A) c.10259-29C>A (n.10259-29C>A) n.4188-29C>A c.10388-29C>A (n.10388-29C>A) | dbSNP gnomAD v4 |
2 | g.73572233C= | CA1261020730 | ALMS1 | c.10004-29C= (n.10004-29C=) c.3090-29C= c.7285-29C= c.4451-29C= (n.4451-29C=) c.7330-29C= c.10385-29C= (n.10385-29C=) c.539-29C= (n.539-29C=) c.1741-29C= c.1482-29C= c.3876-29C= (n.3876-29C=) c.10259-29C= (n.10259-29C=) n.4188-29C= c.10388-29C= (n.10388-29C=) | |
2 | g.73572233C>G | CA2577005214 | ALMS1 | c.10004-29C>G (n.10004-29C>G) c.3090-29C>G c.7285-29C>G c.4451-29C>G (n.4451-29C>G) c.7330-29C>G c.10385-29C>G (n.10385-29C>G) c.539-29C>G (n.539-29C>G) c.1741-29C>G c.1482-29C>G c.3876-29C>G (n.3876-29C>G) c.10259-29C>G (n.10259-29C>G) n.4188-29C>G c.10388-29C>G (n.10388-29C>G) | gnomAD v4 |
2 | g.73572233C>T | CA2659616741 | ALMS1 | c.10004-29C>T (n.10004-29C>T) c.3090-29C>T c.7285-29C>T c.4451-29C>T (n.4451-29C>T) c.7330-29C>T c.10385-29C>T (n.10385-29C>T) c.539-29C>T (n.539-29C>T) c.1741-29C>T c.1482-29C>T c.3876-29C>T (n.3876-29C>T) c.10259-29C>T (n.10259-29C>T) n.4188-29C>T c.10388-29C>T (n.10388-29C>T) | gnomAD v4 |
2 | g.73572234T>C | CA2659616742 | ALMS1 | c.10004-28T>C (n.10004-28T>C) c.3090-28T>C c.7285-28T>C c.4451-28T>C (n.4451-28T>C) c.7330-28T>C c.10385-28T>C (n.10385-28T>C) c.539-28T>C (n.539-28T>C) c.1741-28T>C c.1482-28T>C c.3876-28T>C (n.3876-28T>C) c.10259-28T>C (n.10259-28T>C) n.4188-28T>C c.10388-28T>C (n.10388-28T>C) | gnomAD v4 |
2 | g.73572236dup | CA2839275095 | ALMS1 | c.10004-26dup (n.10004-26dup) c.3090-26dup c.7285-26dup c.4451-26dup (n.4451-26dup) c.7330-26dup c.10385-26dup (n.10385-26dup) c.539-26dup (n.539-26dup) c.1741-26dup c.1482-26dup c.3876-26dup (n.3876-26dup) c.10259-26dup (n.10259-26dup) n.4188-26dup c.10388-26dup (n.10388-26dup) | |
2 | g.73572235T>C | CA2659616744 | ALMS1 | c.10004-27T>C (n.10004-27T>C) c.3090-27T>C c.7285-27T>C c.4451-27T>C (n.4451-27T>C) c.7330-27T>C c.10385-27T>C (n.10385-27T>C) c.539-27T>C (n.539-27T>C) c.1741-27T>C c.1482-27T>C c.3876-27T>C (n.3876-27T>C) c.10259-27T>C (n.10259-27T>C) n.4188-27T>C c.10388-27T>C (n.10388-27T>C) | gnomAD v4 |
2 | g.73572237C>A | CA1714990 | ALMS1 | c.10004-25C>A (n.10004-25C>A) c.3090-25C>A c.7285-25C>A c.4451-25C>A (n.4451-25C>A) c.7330-25C>A c.10385-25C>A (n.10385-25C>A) c.539-25C>A (n.539-25C>A) c.1741-25C>A c.1482-25C>A c.3876-25C>A (n.3876-25C>A) c.10259-25C>A (n.10259-25C>A) n.4188-25C>A c.10388-25C>A (n.10388-25C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572237C= | CA1261020735 | ALMS1 | c.10004-25C= (n.10004-25C=) c.3090-25C= c.7285-25C= c.4451-25C= (n.4451-25C=) c.7330-25C= c.10385-25C= (n.10385-25C=) c.539-25C= (n.539-25C=) c.1741-25C= c.1482-25C= c.3876-25C= (n.3876-25C=) c.10259-25C= (n.10259-25C=) n.4188-25C= c.10388-25C= (n.10388-25C=) | |
2 | g.73572237C>G | CA2577005215 | ALMS1 | c.10004-25C>G (n.10004-25C>G) c.3090-25C>G c.7285-25C>G c.4451-25C>G (n.4451-25C>G) c.7330-25C>G c.10385-25C>G (n.10385-25C>G) c.539-25C>G (n.539-25C>G) c.1741-25C>G c.1482-25C>G c.3876-25C>G (n.3876-25C>G) c.10259-25C>G (n.10259-25C>G) n.4188-25C>G c.10388-25C>G (n.10388-25C>G) | |
2 | g.73572237C>T | CA1714989 | ALMS1 | c.10004-25C>T (n.10004-25C>T) c.3090-25C>T c.7285-25C>T c.4451-25C>T (n.4451-25C>T) c.7330-25C>T c.10385-25C>T (n.10385-25C>T) c.539-25C>T (n.539-25C>T) c.1741-25C>T c.1482-25C>T c.3876-25C>T (n.3876-25C>T) c.10259-25C>T (n.10259-25C>T) n.4188-25C>T c.10388-25C>T (n.10388-25C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572238A>G | CA2577005216 | ALMS1 | c.10004-24A>G (n.10004-24A>G) c.3090-24A>G c.7285-24A>G c.4451-24A>G (n.4451-24A>G) c.7330-24A>G c.10385-24A>G (n.10385-24A>G) c.539-24A>G (n.539-24A>G) c.1741-24A>G c.1482-24A>G c.3876-24A>G (n.3876-24A>G) c.10259-24A>G (n.10259-24A>G) n.4188-24A>G c.10388-24A>G (n.10388-24A>G) | |
2 | g.73572239A= | CA1261020737 | ALMS1 | c.10004-23A= (n.10004-23A=) c.3090-23A= c.7285-23A= c.4451-23A= (n.4451-23A=) c.7330-23A= c.10385-23A= (n.10385-23A=) c.539-23A= (n.539-23A=) c.1741-23A= c.1482-23A= c.3876-23A= (n.3876-23A=) c.10259-23A= (n.10259-23A=) n.4188-23A= c.10388-23A= (n.10388-23A=) | |
2 | g.73572239A>G | CA1714991 | ALMS1 | c.10004-23A>G (n.10004-23A>G) c.3090-23A>G c.7285-23A>G c.4451-23A>G (n.4451-23A>G) c.7330-23A>G c.10385-23A>G (n.10385-23A>G) c.539-23A>G (n.539-23A>G) c.1741-23A>G c.1482-23A>G c.3876-23A>G (n.3876-23A>G) c.10259-23A>G (n.10259-23A>G) n.4188-23A>G c.10388-23A>G (n.10388-23A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572243C>A | CA1714992 | ALMS1 | c.10004-19C>A (n.10004-19C>A) c.3090-19C>A c.7285-19C>A c.4451-19C>A (n.4451-19C>A) c.7330-19C>A c.10385-19C>A (n.10385-19C>A) c.539-19C>A (n.539-19C>A) c.1741-19C>A c.1482-19C>A c.3876-19C>A (n.3876-19C>A) c.10259-19C>A (n.10259-19C>A) n.4188-19C>A c.10388-19C>A (n.10388-19C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572243C= | CA1261020739 | ALMS1 | c.10004-19C= (n.10004-19C=) c.3090-19C= c.7285-19C= c.4451-19C= (n.4451-19C=) c.7330-19C= c.10385-19C= (n.10385-19C=) c.539-19C= (n.539-19C=) c.1741-19C= c.1482-19C= c.3876-19C= (n.3876-19C=) c.10259-19C= (n.10259-19C=) n.4188-19C= c.10388-19C= (n.10388-19C=) | |
2 | g.73572244T>C | CA2659616757 | ALMS1 | c.10004-18T>C (n.10004-18T>C) c.3090-18T>C c.7285-18T>C c.4451-18T>C (n.4451-18T>C) c.7330-18T>C c.10385-18T>C (n.10385-18T>C) c.539-18T>C (n.539-18T>C) c.1741-18T>C c.1482-18T>C c.3876-18T>C (n.3876-18T>C) c.10259-18T>C (n.10259-18T>C) n.4188-18T>C c.10388-18T>C (n.10388-18T>C) | gnomAD v4 |
2 | g.73572250dup | CA2659616758 | ALMS1 | c.10004-12dup (n.10004-12dup) c.3090-12dup c.7285-12dup c.4451-12dup (n.4451-12dup) c.7330-12dup c.10385-12dup (n.10385-12dup) c.539-12dup (n.539-12dup) c.1741-12dup c.1482-12dup c.3876-12dup (n.3876-12dup) c.10259-12dup (n.10259-12dup) n.4188-12dup c.10388-12dup (n.10388-12dup) | gnomAD v4 |
2 | g.73572250del | CA2659616755 | ALMS1 | c.10004-12del (n.10004-12del) c.3090-12del c.7285-12del c.4451-12del (n.4451-12del) c.7330-12del c.10385-12del (n.10385-12del) c.539-12del (n.539-12del) c.1741-12del c.1482-12del c.3876-12del (n.3876-12del) c.10259-12del (n.10259-12del) n.4188-12del c.10388-12del (n.10388-12del) | gnomAD v4 |
2 | g.73572245T>C | CA2739271092 | ALMS1 | c.10004-17T>C (n.10004-17T>C) c.3090-17T>C c.7285-17T>C c.4451-17T>C (n.4451-17T>C) c.7330-17T>C c.10385-17T>C (n.10385-17T>C) c.539-17T>C (n.539-17T>C) c.1741-17T>C c.1482-17T>C c.3876-17T>C (n.3876-17T>C) c.10259-17T>C (n.10259-17T>C) n.4188-17T>C c.10388-17T>C (n.10388-17T>C) | ClinVar |
2 | g.73572245T>G | CA1032214290 | ALMS1 | c.10004-17T>G (n.10004-17T>G) c.3090-17T>G c.7285-17T>G c.4451-17T>G (n.4451-17T>G) c.7330-17T>G c.10385-17T>G (n.10385-17T>G) c.539-17T>G (n.539-17T>G) c.1741-17T>G c.1482-17T>G c.3876-17T>G (n.3876-17T>G) c.10259-17T>G (n.10259-17T>G) n.4188-17T>G c.10388-17T>G (n.10388-17T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572245T= | CA1261020741 | ALMS1 | c.10004-17T= (n.10004-17T=) c.3090-17T= c.7285-17T= c.4451-17T= (n.4451-17T=) c.7330-17T= c.10385-17T= (n.10385-17T=) c.539-17T= (n.539-17T=) c.1741-17T= c.1482-17T= c.3876-17T= (n.3876-17T=) c.10259-17T= (n.10259-17T=) n.4188-17T= c.10388-17T= (n.10388-17T=) | |
2 | g.73572246T>A | CA534124480 | ALMS1 | c.10004-16T>A (n.10004-16T>A) c.3090-16T>A c.7285-16T>A c.4451-16T>A (n.4451-16T>A) c.7330-16T>A c.10385-16T>A (n.10385-16T>A) c.539-16T>A (n.539-16T>A) c.1741-16T>A c.1482-16T>A c.3876-16T>A (n.3876-16T>A) c.10259-16T>A (n.10259-16T>A) n.4188-16T>A c.10388-16T>A (n.10388-16T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572246T>C | CA2573135797 | ALMS1 | c.10004-16T>C (n.10004-16T>C) c.3090-16T>C c.7285-16T>C c.4451-16T>C (n.4451-16T>C) c.7330-16T>C c.10385-16T>C (n.10385-16T>C) c.539-16T>C (n.539-16T>C) c.1741-16T>C c.1482-16T>C c.3876-16T>C (n.3876-16T>C) c.10259-16T>C (n.10259-16T>C) n.4188-16T>C c.10388-16T>C (n.10388-16T>C) | ClinVar dbSNP |
2 | g.73572246T>G | CA1261020745 | ALMS1 | c.10004-16T>G (n.10004-16T>G) c.3090-16T>G c.7285-16T>G c.4451-16T>G (n.4451-16T>G) c.7330-16T>G c.10385-16T>G (n.10385-16T>G) c.539-16T>G (n.539-16T>G) c.1741-16T>G c.1482-16T>G c.3876-16T>G (n.3876-16T>G) c.10259-16T>G (n.10259-16T>G) n.4188-16T>G c.10388-16T>G (n.10388-16T>G) | dbSNP |
2 | g.73572246T= | CA1261020743 | ALMS1 | c.10004-16T= (n.10004-16T=) c.3090-16T= c.7285-16T= c.4451-16T= (n.4451-16T=) c.7330-16T= c.10385-16T= (n.10385-16T=) c.539-16T= (n.539-16T=) c.1741-16T= c.1482-16T= c.3876-16T= (n.3876-16T=) c.10259-16T= (n.10259-16T=) n.4188-16T= c.10388-16T= (n.10388-16T=) | |
2 | g.73572247T>G | CA2659616771 | ALMS1 | c.10004-15T>G (n.10004-15T>G) c.3090-15T>G c.7285-15T>G c.4451-15T>G (n.4451-15T>G) c.7330-15T>G c.10385-15T>G (n.10385-15T>G) c.539-15T>G (n.539-15T>G) c.1741-15T>G c.1482-15T>G c.3876-15T>G (n.3876-15T>G) c.10259-15T>G (n.10259-15T>G) n.4188-15T>G c.10388-15T>G (n.10388-15T>G) | gnomAD v4 |
2 | g.73572251C>A | CA1261020748 | ALMS1 | c.10004-11C>A (n.10004-11C>A) c.3090-11C>A c.7285-11C>A c.4451-11C>A (n.4451-11C>A) c.7330-11C>A c.10385-11C>A (n.10385-11C>A) c.539-11C>A (n.539-11C>A) c.1741-11C>A c.1482-11C>A c.3876-11C>A (n.3876-11C>A) c.10259-11C>A (n.10259-11C>A) n.4188-11C>A c.10388-11C>A (n.10388-11C>A) | dbSNP gnomAD v4 |
2 | g.73572251C= | CA1261020747 | ALMS1 | c.10004-11C= (n.10004-11C=) c.3090-11C= c.7285-11C= c.4451-11C= (n.4451-11C=) c.7330-11C= c.10385-11C= (n.10385-11C=) c.539-11C= (n.539-11C=) c.1741-11C= c.1482-11C= c.3876-11C= (n.3876-11C=) c.10259-11C= (n.10259-11C=) n.4188-11C= c.10388-11C= (n.10388-11C=) | |
2 | g.73572251C>T | CA534124481 | ALMS1 | c.10004-11C>T (n.10004-11C>T) c.3090-11C>T c.7285-11C>T c.4451-11C>T (n.4451-11C>T) c.7330-11C>T c.10385-11C>T (n.10385-11C>T) c.539-11C>T (n.539-11C>T) c.1741-11C>T c.1482-11C>T c.3876-11C>T (n.3876-11C>T) c.10259-11C>T (n.10259-11C>T) n.4188-11C>T c.10388-11C>T (n.10388-11C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572252T>C | CA892825356 | ALMS1 | c.10004-10T>C (n.10004-10T>C) c.3090-10T>C c.7285-10T>C c.4451-10T>C (n.4451-10T>C) c.7330-10T>C c.10385-10T>C (n.10385-10T>C) c.539-10T>C (n.539-10T>C) c.1741-10T>C c.1482-10T>C c.3876-10T>C (n.3876-10T>C) c.10259-10T>C (n.10259-10T>C) n.4188-10T>C c.10388-10T>C (n.10388-10T>C) | dbSNP |
2 | g.73572252T= | CA1261020750 | ALMS1 | c.10004-10T= (n.10004-10T=) c.3090-10T= c.7285-10T= c.4451-10T= (n.4451-10T=) c.7330-10T= c.10385-10T= (n.10385-10T=) c.539-10T= (n.539-10T=) c.1741-10T= c.1482-10T= c.3876-10T= (n.3876-10T=) c.10259-10T= (n.10259-10T=) n.4188-10T= c.10388-10T= (n.10388-10T=) | |
2 | g.73572253C>A | CA2659616783 | ALMS1 | c.10004-9C>A (n.10004-9C>A) c.3090-9C>A c.7285-9C>A c.4451-9C>A (n.4451-9C>A) c.7330-9C>A c.10385-9C>A (n.10385-9C>A) c.539-9C>A (n.539-9C>A) c.1741-9C>A c.1482-9C>A c.3876-9C>A (n.3876-9C>A) c.10259-9C>A (n.10259-9C>A) n.4188-9C>A c.10388-9C>A (n.10388-9C>A) | gnomAD v4 |
2 | g.73572253C= | CA1261020754 | ALMS1 | c.10004-9C= (n.10004-9C=) c.3090-9C= c.7285-9C= c.4451-9C= (n.4451-9C=) c.7330-9C= c.10385-9C= (n.10385-9C=) c.539-9C= (n.539-9C=) c.1741-9C= c.1482-9C= c.3876-9C= (n.3876-9C=) c.10259-9C= (n.10259-9C=) n.4188-9C= c.10388-9C= (n.10388-9C=) | |
2 | g.73572253C>T | CA1714993 | ALMS1 | c.10004-9C>T (n.10004-9C>T) c.3090-9C>T c.7285-9C>T c.4451-9C>T (n.4451-9C>T) c.7330-9C>T c.10385-9C>T (n.10385-9C>T) c.539-9C>T (n.539-9C>T) c.1741-9C>T c.1482-9C>T c.3876-9C>T (n.3876-9C>T) c.10259-9C>T (n.10259-9C>T) n.4188-9C>T c.10388-9C>T (n.10388-9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572254C>A | CA892825365 | ALMS1 | c.10004-8C>A (n.10004-8C>A) c.3090-8C>A c.7285-8C>A c.4451-8C>A (n.4451-8C>A) c.7330-8C>A c.10385-8C>A (n.10385-8C>A) c.539-8C>A (n.539-8C>A) c.1741-8C>A c.1482-8C>A c.3876-8C>A (n.3876-8C>A) c.10259-8C>A (n.10259-8C>A) n.4188-8C>A c.10388-8C>A (n.10388-8C>A) | dbSNP gnomAD v4 |
2 | g.73572254C= | CA1261020757 | ALMS1 | c.10004-8C= (n.10004-8C=) c.3090-8C= c.7285-8C= c.4451-8C= (n.4451-8C=) c.7330-8C= c.10385-8C= (n.10385-8C=) c.539-8C= (n.539-8C=) c.1741-8C= c.1482-8C= c.3876-8C= (n.3876-8C=) c.10259-8C= (n.10259-8C=) n.4188-8C= c.10388-8C= (n.10388-8C=) | |
2 | g.73572254C>T | CA534124482 | ALMS1 | c.10004-8C>T (n.10004-8C>T) c.3090-8C>T c.7285-8C>T c.4451-8C>T (n.4451-8C>T) c.7330-8C>T c.10385-8C>T (n.10385-8C>T) c.539-8C>T (n.539-8C>T) c.1741-8C>T c.1482-8C>T c.3876-8C>T (n.3876-8C>T) c.10259-8C>T (n.10259-8C>T) n.4188-8C>T c.10388-8C>T (n.10388-8C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572255T>A | CA534124483 | ALMS1 | c.10004-7T>A (n.10004-7T>A) c.3090-7T>A c.7285-7T>A c.4451-7T>A (n.4451-7T>A) c.7330-7T>A c.10385-7T>A (n.10385-7T>A) c.539-7T>A (n.539-7T>A) c.1741-7T>A c.1482-7T>A c.3876-7T>A (n.3876-7T>A) c.10259-7T>A (n.10259-7T>A) n.4188-7T>A c.10388-7T>A (n.10388-7T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572255T>G | CA658822828 | ALMS1 | c.10004-7T>G (n.10004-7T>G) c.3090-7T>G c.7285-7T>G c.4451-7T>G (n.4451-7T>G) c.7330-7T>G c.10385-7T>G (n.10385-7T>G) c.539-7T>G (n.539-7T>G) c.1741-7T>G c.1482-7T>G c.3876-7T>G (n.3876-7T>G) c.10259-7T>G (n.10259-7T>G) n.4188-7T>G c.10388-7T>G (n.10388-7T>G) | ClinVar dbSNP |
2 | g.73572255T= | CA1261020759 | ALMS1 | c.10004-7T= (n.10004-7T=) c.3090-7T= c.7285-7T= c.4451-7T= (n.4451-7T=) c.7330-7T= c.10385-7T= (n.10385-7T=) c.539-7T= (n.539-7T=) c.1741-7T= c.1482-7T= c.3876-7T= (n.3876-7T=) c.10259-7T= (n.10259-7T=) n.4188-7T= c.10388-7T= (n.10388-7T=) | |
2 | g.73572256T>C | CA1261020763 | ALMS1 | c.10004-6T>C (n.10004-6T>C) c.3090-6T>C c.7285-6T>C c.4451-6T>C (n.4451-6T>C) c.7330-6T>C c.10385-6T>C (n.10385-6T>C) c.539-6T>C (n.539-6T>C) c.1741-6T>C c.1482-6T>C c.3876-6T>C (n.3876-6T>C) c.10259-6T>C (n.10259-6T>C) n.4188-6T>C c.10388-6T>C (n.10388-6T>C) | dbSNP |
2 | g.73572256T= | CA1261020762 | ALMS1 | c.10004-6T= (n.10004-6T=) c.3090-6T= c.7285-6T= c.4451-6T= (n.4451-6T=) c.7330-6T= c.10385-6T= (n.10385-6T=) c.539-6T= (n.539-6T=) c.1741-6T= c.1482-6T= c.3876-6T= (n.3876-6T=) c.10259-6T= (n.10259-6T=) n.4188-6T= c.10388-6T= (n.10388-6T=) | |
2 | g.73572257T>C | CA534124484 | ALMS1 | c.10004-5T>C (n.10004-5T>C) c.3090-5T>C c.7285-5T>C c.4451-5T>C (n.4451-5T>C) c.7330-5T>C c.10385-5T>C (n.10385-5T>C) c.539-5T>C (n.539-5T>C) c.1741-5T>C c.1482-5T>C c.3876-5T>C (n.3876-5T>C) c.10259-5T>C (n.10259-5T>C) n.4188-5T>C c.10388-5T>C (n.10388-5T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572257T= | CA1261020765 | ALMS1 | c.10004-5T= (n.10004-5T=) c.3090-5T= c.7285-5T= c.4451-5T= (n.4451-5T=) c.7330-5T= c.10385-5T= (n.10385-5T=) c.539-5T= (n.539-5T=) c.1741-5T= c.1482-5T= c.3876-5T= (n.3876-5T=) c.10259-5T= (n.10259-5T=) n.4188-5T= c.10388-5T= (n.10388-5T=) | |
2 | g.73572259C= | CA1261020769 | ALMS1 | c.10004-3C= (n.10004-3C=) c.3090-3C= c.7285-3C= c.4451-3C= (n.4451-3C=) c.7330-3C= c.10385-3C= (n.10385-3C=) c.539-3C= (n.539-3C=) c.1741-3C= c.1482-3C= c.3876-3C= (n.3876-3C=) c.10259-3C= (n.10259-3C=) n.4188-3C= c.10388-3C= (n.10388-3C=) | |
2 | g.73572259C>T | CA534124485 | ALMS1 | c.10004-3C>T (n.10004-3C>T) c.3090-3C>T c.7285-3C>T c.4451-3C>T (n.4451-3C>T) c.7330-3C>T c.10385-3C>T (n.10385-3C>T) c.539-3C>T (n.539-3C>T) c.1741-3C>T c.1482-3C>T c.3876-3C>T (n.3876-3C>T) c.10259-3C>T (n.10259-3C>T) n.4188-3C>T c.10388-3C>T (n.10388-3C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572260A= | CA1261020772 | ALMS1 | c.10004-2A= (n.10004-2A=) c.3090-2A= c.7285-2A= c.4451-2A= (n.4451-2A=) c.7330-2A= c.10385-2A= (n.10385-2A=) c.539-2A= (n.539-2A=) c.1741-2A= c.1482-2A= c.3876-2A= (n.3876-2A=) c.10259-2A= (n.10259-2A=) n.4188-2A= c.10388-2A= (n.10388-2A=) | |
2 | g.73572260A>C | CA347282504 | ALMS1 | c.10004-2A>C (n.10004-2A>C) c.3090-2A>C c.7285-2A>C c.4451-2A>C (n.4451-2A>C) c.7330-2A>C c.10385-2A>C (n.10385-2A>C) c.539-2A>C (n.539-2A>C) c.1741-2A>C c.1482-2A>C c.3876-2A>C (n.3876-2A>C) c.10259-2A>C (n.10259-2A>C) n.4188-2A>C c.10388-2A>C (n.10388-2A>C) | |
2 | g.73572260A>G | CA347282506 | ALMS1 | c.10004-2A>G (n.10004-2A>G) c.3090-2A>G c.7285-2A>G c.4451-2A>G (n.4451-2A>G) c.7330-2A>G c.10385-2A>G (n.10385-2A>G) c.539-2A>G (n.539-2A>G) c.1741-2A>G c.1482-2A>G c.3876-2A>G (n.3876-2A>G) c.10259-2A>G (n.10259-2A>G) n.4188-2A>G c.10388-2A>G (n.10388-2A>G) | ClinVar dbSNP gnomAD v4 |
2 | g.73572260A>T | CA347282510 | ALMS1 | c.10004-2A>T (n.10004-2A>T) c.3090-2A>T c.7285-2A>T c.4451-2A>T (n.4451-2A>T) c.7330-2A>T c.10385-2A>T (n.10385-2A>T) c.539-2A>T (n.539-2A>T) c.1741-2A>T c.1482-2A>T c.3876-2A>T (n.3876-2A>T) c.10259-2A>T (n.10259-2A>T) n.4188-2A>T c.10388-2A>T (n.10388-2A>T) | dbSNP gnomAD v2 |
2 | g.73572261G>A | CA347282514 | ALMS1 | c.10004-1G>A (n.10004-1G>A) c.3090-1G>A c.7285-1G>A c.4451-1G>A (n.4451-1G>A) c.7330-1G>A c.10385-1G>A (n.10385-1G>A) c.539-1G>A (n.539-1G>A) c.1741-1G>A c.1482-1G>A c.3876-1G>A (n.3876-1G>A) c.10259-1G>A (n.10259-1G>A) n.4188-1G>A c.10388-1G>A (n.10388-1G>A) | dbSNP gnomAD v2 |
2 | g.73572261G>C | CA347282518 | ALMS1 | c.10004-1G>C (n.10004-1G>C) c.3090-1G>C c.7285-1G>C c.4451-1G>C (n.4451-1G>C) c.7330-1G>C c.10385-1G>C (n.10385-1G>C) c.539-1G>C (n.539-1G>C) c.1741-1G>C c.1482-1G>C c.3876-1G>C (n.3876-1G>C) c.10259-1G>C (n.10259-1G>C) n.4188-1G>C c.10388-1G>C (n.10388-1G>C) | |
2 | g.73572261G= | CA1261020775 | ALMS1 | c.10004-1G= (n.10004-1G=) c.3090-1G= c.7285-1G= c.4451-1G= (n.4451-1G=) c.7330-1G= c.10385-1G= (n.10385-1G=) c.539-1G= (n.539-1G=) c.1741-1G= c.1482-1G= c.3876-1G= (n.3876-1G=) c.10259-1G= (n.10259-1G=) n.4188-1G= c.10388-1G= (n.10388-1G=) | |
2 | g.73572261G>T | CA347282519 | ALMS1 | c.10004-1G>T (n.10004-1G>T) c.3090-1G>T c.7285-1G>T c.4451-1G>T (n.4451-1G>T) c.7330-1G>T c.10385-1G>T (n.10385-1G>T) c.539-1G>T (n.539-1G>T) c.1741-1G>T c.1482-1G>T c.3876-1G>T (n.3876-1G>T) c.10259-1G>T (n.10259-1G>T) n.4188-1G>T c.10388-1G>T (n.10388-1G>T) | |
2 | g.73572262A>C | CA347282527 | ALMS1 | c.10004A>C (p.Glu3335Ala) c.3090A>C c.7285A>C c.4451A>C (p.Glu1484Ala) c.7330A>C c.10385A>C (p.Glu3462Ala) c.539A>C (p.Glu180Ala) c.1741A>C c.1482A>C c.3876A>C (n.3876A>C) c.10259A>C (p.Glu3420Ala) n.4188A>C c.10388A>C (p.Glu3463Ala) | |
2 | g.73572262A>G | CA347282530 | ALMS1 | c.10004A>G (p.Glu3335Gly) c.3090A>G c.7285A>G c.4451A>G (p.Glu1484Gly) c.7330A>G c.10385A>G (p.Glu3462Gly) c.539A>G (p.Glu180Gly) c.1741A>G c.1482A>G c.3876A>G (n.3876A>G) c.10259A>G (p.Glu3420Gly) n.4188A>G c.10388A>G (p.Glu3463Gly) | |
2 | g.73572262A>T | CA347282524 | ALMS1 | c.10004A>T (p.Glu3335Val) c.3090A>T c.7285A>T c.4451A>T (p.Glu1484Val) c.7330A>T c.10385A>T (p.Glu3462Val) c.539A>T (p.Glu180Val) c.1741A>T c.1482A>T c.3876A>T (n.3876A>T) c.10259A>T (p.Glu3420Val) n.4188A>T c.10388A>T (p.Glu3463Val) | |
2 | g.73572263G>A | CA1714994 | ALMS1 | c.10005G>A (p.Glu3335=) c.3091G>A c.7286G>A c.4452G>A (p.Glu1484=) c.7331G>A c.10386G>A (p.Glu3462=) c.540G>A (p.Glu180=) c.1742G>A c.1483G>A c.3877G>A (n.3877G>A) c.10260G>A (p.Glu3420=) n.4189G>A c.10389G>A (p.Glu3463=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572263G>C | CA347282536 | ALMS1 | c.10005G>C (p.Glu3335Asp) c.3091G>C c.7286G>C c.4452G>C (p.Glu1484Asp) c.7331G>C c.10386G>C (p.Glu3462Asp) c.540G>C (p.Glu180Asp) c.1742G>C c.1483G>C c.3877G>C (n.3877G>C) c.10260G>C (p.Glu3420Asp) n.4189G>C c.10389G>C (p.Glu3463Asp) | gnomAD v4 |
2 | g.73572263G= | CA1261020777 | ALMS1 | c.10005G= (p.Glu3335=) c.3091G= c.7286G= c.4452G= (p.Glu1484=) c.7331G= c.10386G= (p.Glu3462=) c.540G= (p.Glu180=) c.1742G= c.1483G= c.3877G= (n.3877G=) c.10260G= (p.Glu3420=) n.4189G= c.10389G= (p.Glu3463=) | |
2 | g.73572263G>T | CA347282538 | ALMS1 | c.10005G>T (p.Glu3335Asp) c.3091G>T c.7286G>T c.4452G>T (p.Glu1484Asp) c.7331G>T c.10386G>T (p.Glu3462Asp) c.540G>T (p.Glu180Asp) c.1742G>T c.1483G>T c.3877G>T (n.3877G>T) c.10260G>T (p.Glu3420Asp) n.4189G>T c.10389G>T (p.Glu3463Asp) | |
2 | g.73572264T>A | CA347282539 | ALMS1 | c.10006T>A (p.Ser3336Thr) c.3092T>A c.7287T>A c.4453T>A (p.Ser1485Thr) c.7332T>A c.10387T>A (p.Ser3463Thr) c.541T>A (p.Ser181Thr) c.1743T>A c.1484T>A c.3878T>A (n.3878T>A) c.10261T>A (p.Ser3421Thr) n.4190T>A c.10390T>A (p.Ser3464Thr) | |
2 | g.73572264T>C | CA347282540 | ALMS1 | c.10006T>C (p.Ser3336Pro) c.3092T>C c.7287T>C c.4453T>C (p.Ser1485Pro) c.7332T>C c.10387T>C (p.Ser3463Pro) c.541T>C (p.Ser181Pro) c.1743T>C c.1484T>C c.3878T>C (n.3878T>C) c.10261T>C (p.Ser3421Pro) n.4190T>C c.10390T>C (p.Ser3464Pro) | gnomAD v4 |
2 | g.73572264T>G | CA347282541 | ALMS1 | c.10006T>G (p.Ser3336Ala) c.3092T>G c.7287T>G c.4453T>G (p.Ser1485Ala) c.7332T>G c.10387T>G (p.Ser3463Ala) c.541T>G (p.Ser181Ala) c.1743T>G c.1484T>G c.3878T>G (n.3878T>G) c.10261T>G (p.Ser3421Ala) n.4190T>G c.10390T>G (p.Ser3464Ala) | |
2 | g.73572265C>A | CA347282544 | ALMS1 | c.10007C>A (p.Ser3336Tyr) c.3093C>A c.7288C>A c.4454C>A (p.Ser1485Tyr) c.7333C>A c.10388C>A (p.Ser3463Tyr) c.542C>A (p.Ser181Tyr) c.1744C>A c.1485C>A c.3879C>A (n.3879C>A) c.10262C>A (p.Ser3421Tyr) n.4191C>A c.10391C>A (p.Ser3464Tyr) | gnomAD v4 |
2 | g.73572265C= | CA1261020782 | ALMS1 | c.10007C= (p.Ser3336=) c.3093C= c.7288C= c.4454C= (p.Ser1485=) c.7333C= c.10388C= (p.Ser3463=) c.542C= (p.Ser181=) c.1744C= c.1485C= c.3879C= (n.3879C=) c.10262C= (p.Ser3421=) n.4191C= c.10391C= (p.Ser3464=) | |
2 | g.73572265C>G | CA1714995 | ALMS1 | c.10007C>G (p.Ser3336Cys) c.3093C>G c.7288C>G c.4454C>G (p.Ser1485Cys) c.7333C>G c.10388C>G (p.Ser3463Cys) c.542C>G (p.Ser181Cys) c.1744C>G c.1485C>G c.3879C>G (n.3879C>G) c.10262C>G (p.Ser3421Cys) n.4191C>G c.10391C>G (p.Ser3464Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572265C>T | CA347282548 | ALMS1 | c.10007C>T (p.Ser3336Phe) c.3093C>T c.7288C>T c.4454C>T (p.Ser1485Phe) c.7333C>T c.10388C>T (p.Ser3463Phe) c.542C>T (p.Ser181Phe) c.1744C>T c.1485C>T c.3879C>T (n.3879C>T) c.10262C>T (p.Ser3421Phe) n.4191C>T c.10391C>T (p.Ser3464Phe) | |
2 | g.73572266C>A | CA427024210 | ALMS1 | c.10008C>A (p.Ser3336=) c.3094C>A c.7289C>A c.4455C>A (p.Ser1485=) c.7334C>A c.10389C>A (p.Ser3463=) c.543C>A (p.Ser181=) c.1745C>A c.1486C>A c.3880C>A (n.3880C>A) c.10263C>A (p.Ser3421=) n.4192C>A c.10392C>A (p.Ser3464=) | gnomAD v4 |
2 | g.73572266C= | CA1261020786 | ALMS1 | c.10008C= (p.Ser3336=) c.3094C= c.7289C= c.4455C= (p.Ser1485=) c.7334C= c.10389C= (p.Ser3463=) c.543C= (p.Ser181=) c.1745C= c.1486C= c.3880C= (n.3880C=) c.10263C= (p.Ser3421=) n.4192C= c.10392C= (p.Ser3464=) | |
2 | g.73572266C>G | CA427024215 | ALMS1 | c.10008C>G (p.Ser3336=) c.3094C>G c.7289C>G c.4455C>G (p.Ser1485=) c.7334C>G c.10389C>G (p.Ser3463=) c.543C>G (p.Ser181=) c.1745C>G c.1486C>G c.3880C>G (n.3880C>G) c.10263C>G (p.Ser3421=) n.4192C>G c.10392C>G (p.Ser3464=) | |
2 | g.73572266C>T | CA1714996 | ALMS1 | c.10008C>T (p.Ser3336=) c.3094C>T c.7289C>T c.4455C>T (p.Ser1485=) c.7334C>T c.10389C>T (p.Ser3463=) c.543C>T (p.Ser181=) c.1745C>T c.1486C>T c.3880C>T (n.3880C>T) c.10263C>T (p.Ser3421=) n.4192C>T c.10392C>T (p.Ser3464=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572267G>A | CA1714997 | ALMS1 | c.10009G>A (p.Glu3337Lys) c.3095G>A c.7290G>A c.4456G>A (p.Glu1486Lys) c.7335G>A c.10390G>A (p.Glu3464Lys) c.544G>A (p.Glu182Lys) c.1746G>A c.1487G>A c.3881G>A (n.3881G>A) c.10264G>A (p.Glu3422Lys) n.4193G>A c.10393G>A (p.Glu3465Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572267G>C | CA347282556 | ALMS1 | c.10009G>C (p.Glu3337Gln) c.3095G>C c.7290G>C c.4456G>C (p.Glu1486Gln) c.7335G>C c.10390G>C (p.Glu3464Gln) c.544G>C (p.Glu182Gln) c.1746G>C c.1487G>C c.3881G>C (n.3881G>C) c.10264G>C (p.Glu3422Gln) n.4193G>C c.10393G>C (p.Glu3465Gln) | |
2 | g.73572267G= | CA1261020790 | ALMS1 | c.10009G= (p.Glu3337=) c.3095G= c.7290G= c.4456G= (p.Glu1486=) c.7335G= c.10390G= (p.Glu3464=) c.544G= (p.Glu182=) c.1746G= c.1487G= c.3881G= (n.3881G=) c.10264G= (p.Glu3422=) n.4193G= c.10393G= (p.Glu3465=) | |
2 | g.73572267G>T | CA347282562 | ALMS1 | c.10009G>T (p.Glu3337Ter) c.3095G>T c.7290G>T c.4456G>T (p.Glu1486Ter) c.7335G>T c.10390G>T (p.Glu3464Ter) c.544G>T (p.Glu182Ter) c.1746G>T c.1487G>T c.3881G>T (n.3881G>T) c.10264G>T (p.Glu3422Ter) n.4193G>T c.10393G>T (p.Glu3465Ter) | |
2 | g.73572268A= | CA1261020793 | ALMS1 | c.10010A= (p.Glu3337=) c.3096A= c.7291A= c.4457A= (p.Glu1486=) c.7336A= c.10391A= (p.Glu3464=) c.545A= (p.Glu182=) c.1747A= c.1488A= c.3882A= (n.3882A=) c.10265A= (p.Glu3422=) n.4194A= c.10394A= (p.Glu3465=) | |
2 | g.73572268A>C | CA1714998 | ALMS1 | c.10010A>C (p.Glu3337Ala) c.3096A>C c.7291A>C c.4457A>C (p.Glu1486Ala) c.7336A>C c.10391A>C (p.Glu3464Ala) c.545A>C (p.Glu182Ala) c.1747A>C c.1488A>C c.3882A>C (n.3882A>C) c.10265A>C (p.Glu3422Ala) n.4194A>C c.10394A>C (p.Glu3465Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572268A>G | CA347282571 | ALMS1 | c.10010A>G (p.Glu3337Gly) c.3096A>G c.7291A>G c.4457A>G (p.Glu1486Gly) c.7336A>G c.10391A>G (p.Glu3464Gly) c.545A>G (p.Glu182Gly) c.1747A>G c.1488A>G c.3882A>G (n.3882A>G) c.10265A>G (p.Glu3422Gly) n.4194A>G c.10394A>G (p.Glu3465Gly) | |
2 | g.73572268A>T | CA347282567 | ALMS1 | c.10010A>T (p.Glu3337Val) c.3096A>T c.7291A>T c.4457A>T (p.Glu1486Val) c.7336A>T c.10391A>T (p.Glu3464Val) c.545A>T (p.Glu182Val) c.1747A>T c.1488A>T c.3882A>T (n.3882A>T) c.10265A>T (p.Glu3422Val) n.4194A>T c.10394A>T (p.Glu3465Val) | |
2 | g.73572269A>C | CA347282574 | ALMS1 | c.10011A>C (p.Glu3337Asp) c.3097A>C c.7292A>C c.4458A>C (p.Glu1486Asp) c.7337A>C c.10392A>C (p.Glu3464Asp) c.546A>C (p.Glu182Asp) c.1748A>C c.1489A>C c.3883A>C (n.3883A>C) c.10266A>C (p.Glu3422Asp) n.4195A>C c.10395A>C (p.Glu3465Asp) | |
2 | g.73572269A>G | CA427024223 | ALMS1 | c.10011A>G (p.Glu3337=) c.3097A>G c.7292A>G c.4458A>G (p.Glu1486=) c.7337A>G c.10392A>G (p.Glu3464=) c.546A>G (p.Glu182=) c.1748A>G c.1489A>G c.3883A>G (n.3883A>G) c.10266A>G (p.Glu3422=) n.4195A>G c.10395A>G (p.Glu3465=) | gnomAD v4 |
2 | g.73572269A>T | CA347282576 | ALMS1 | c.10011A>T (p.Glu3337Asp) c.3097A>T c.7292A>T c.4458A>T (p.Glu1486Asp) c.7337A>T c.10392A>T (p.Glu3464Asp) c.546A>T (p.Glu182Asp) c.1748A>T c.1489A>T c.3883A>T (n.3883A>T) c.10266A>T (p.Glu3422Asp) n.4195A>T c.10395A>T (p.Glu3465Asp) | |
2 | g.73572270T>A | CA347282580 | ALMS1 | c.10012T>A (p.Cys3338Ser) c.3098T>A c.7293T>A c.4459T>A (p.Cys1487Ser) c.7338T>A c.10393T>A (p.Cys3465Ser) c.547T>A (p.Cys183Ser) c.1749T>A c.1490T>A c.3884T>A (n.3884T>A) c.10267T>A (p.Cys3423Ser) n.4196T>A c.10396T>A (p.Cys3466Ser) | |
2 | g.73572270T>C | CA347282581 | ALMS1 | c.10012T>C (p.Cys3338Arg) c.3098T>C c.7293T>C c.4459T>C (p.Cys1487Arg) c.7338T>C c.10393T>C (p.Cys3465Arg) c.547T>C (p.Cys183Arg) c.1749T>C c.1490T>C c.3884T>C (n.3884T>C) c.10267T>C (p.Cys3423Arg) n.4196T>C c.10396T>C (p.Cys3466Arg) | |
2 | g.73572270T>G | CA347282583 | ALMS1 | c.10012T>G (p.Cys3338Gly) c.3098T>G c.7293T>G c.4459T>G (p.Cys1487Gly) c.7338T>G c.10393T>G (p.Cys3465Gly) c.547T>G (p.Cys183Gly) c.1749T>G c.1490T>G c.3884T>G (n.3884T>G) c.10267T>G (p.Cys3423Gly) n.4196T>G c.10396T>G (p.Cys3466Gly) | |
2 | g.73572271G>A | CA347282586 | ALMS1 | c.10013G>A (p.Cys3338Tyr) c.3099G>A c.7294G>A c.4460G>A (p.Cys1487Tyr) c.7339G>A c.10394G>A (p.Cys3465Tyr) c.548G>A (p.Cys183Tyr) c.1750G>A c.1491G>A c.3885G>A (n.3885G>A) c.10268G>A (p.Cys3423Tyr) n.4197G>A c.10397G>A (p.Cys3466Tyr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572271G>C | CA347282587 | ALMS1 | c.10013G>C (p.Cys3338Ser) c.3099G>C c.7294G>C c.4460G>C (p.Cys1487Ser) c.7339G>C c.10394G>C (p.Cys3465Ser) c.548G>C (p.Cys183Ser) c.1750G>C c.1491G>C c.3885G>C (n.3885G>C) c.10268G>C (p.Cys3423Ser) n.4197G>C c.10397G>C (p.Cys3466Ser) | gnomAD v4 |
2 | g.73572271G= | CA1261020797 | ALMS1 | c.10013G= (p.Cys3338=) c.3099G= c.7294G= c.4460G= (p.Cys1487=) c.7339G= c.10394G= (p.Cys3465=) c.548G= (p.Cys183=) c.1750G= c.1491G= c.3885G= (n.3885G=) c.10268G= (p.Cys3423=) n.4197G= c.10397G= (p.Cys3466=) | |
2 | g.73572271G>T | CA347282590 | ALMS1 | c.10013G>T (p.Cys3338Phe) c.3099G>T c.7294G>T c.4460G>T (p.Cys1487Phe) c.7339G>T c.10394G>T (p.Cys3465Phe) c.548G>T (p.Cys183Phe) c.1750G>T c.1491G>T c.3885G>T (n.3885G>T) c.10268G>T (p.Cys3423Phe) n.4197G>T c.10397G>T (p.Cys3466Phe) | |
2 | g.73572272T>A | CA347282593 | ALMS1 | c.10014T>A (p.Cys3338Ter) c.3100T>A c.7295T>A c.4461T>A (p.Cys1487Ter) c.7340T>A c.10395T>A (p.Cys3465Ter) c.549T>A (p.Cys183Ter) c.1751T>A c.1492T>A c.3886T>A (n.3886T>A) c.10269T>A (p.Cys3423Ter) n.4198T>A c.10398T>A (p.Cys3466Ter) | |
2 | g.73572272T>C | CA427024229 | ALMS1 | c.10014T>C (p.Cys3338=) c.3100T>C c.7295T>C c.4461T>C (p.Cys1487=) c.7340T>C c.10395T>C (p.Cys3465=) c.549T>C (p.Cys183=) c.1751T>C c.1492T>C c.3886T>C (n.3886T>C) c.10269T>C (p.Cys3423=) n.4198T>C c.10398T>C (p.Cys3466=) | |
2 | g.73572272T>G | CA347282594 | ALMS1 | c.10014T>G (p.Cys3338Trp) c.3100T>G c.7295T>G c.4461T>G (p.Cys1487Trp) c.7340T>G c.10395T>G (p.Cys3465Trp) c.549T>G (p.Cys183Trp) c.1751T>G c.1492T>G c.3886T>G (n.3886T>G) c.10269T>G (p.Cys3423Trp) n.4198T>G c.10398T>G (p.Cys3466Trp) | |
2 | g.73572273C>A | CA347282595 | ALMS1 | c.10015C>A (p.His3339Asn) c.3101C>A c.7296C>A c.4462C>A (p.His1488Asn) c.7341C>A c.10396C>A (p.His3466Asn) c.550C>A (p.His184Asn) c.1752C>A c.1493C>A c.3887C>A (n.3887C>A) c.10270C>A (p.His3424Asn) n.4199C>A c.10399C>A (p.His3467Asn) | |
2 | g.73572273C>G | CA347282596 | ALMS1 | c.10015C>G (p.His3339Asp) c.3101C>G c.7296C>G c.4462C>G (p.His1488Asp) c.7341C>G c.10396C>G (p.His3466Asp) c.550C>G (p.His184Asp) c.1752C>G c.1493C>G c.3887C>G (n.3887C>G) c.10270C>G (p.His3424Asp) n.4199C>G c.10399C>G (p.His3467Asp) | |
2 | g.73572273C>T | CA347282598 | ALMS1 | c.10015C>T (p.His3339Tyr) c.3101C>T c.7296C>T c.4462C>T (p.His1488Tyr) c.7341C>T c.10396C>T (p.His3466Tyr) c.550C>T (p.His184Tyr) c.1752C>T c.1493C>T c.3887C>T (n.3887C>T) c.10270C>T (p.His3424Tyr) n.4199C>T c.10399C>T (p.His3467Tyr) | |
2 | g.73572274A>C | CA347282602 | ALMS1 | c.10016A>C (p.His3339Pro) c.3102A>C c.7297A>C c.4463A>C (p.His1488Pro) c.7342A>C c.10397A>C (p.His3466Pro) c.551A>C (p.His184Pro) c.1753A>C c.1494A>C c.3888A>C (n.3888A>C) c.10271A>C (p.His3424Pro) n.4200A>C c.10400A>C (p.His3467Pro) | |
2 | g.73572274A>G | CA347282603 | ALMS1 | c.10016A>G (p.His3339Arg) c.3102A>G c.7297A>G c.4463A>G (p.His1488Arg) c.7342A>G c.10397A>G (p.His3466Arg) c.551A>G (p.His184Arg) c.1753A>G c.1494A>G c.3888A>G (n.3888A>G) c.10271A>G (p.His3424Arg) n.4200A>G c.10400A>G (p.His3467Arg) | |
2 | g.73572274A>T | CA347282605 | ALMS1 | c.10016A>T (p.His3339Leu) c.3102A>T c.7297A>T c.4463A>T (p.His1488Leu) c.7342A>T c.10397A>T (p.His3466Leu) c.551A>T (p.His184Leu) c.1753A>T c.1494A>T c.3888A>T (n.3888A>T) c.10271A>T (p.His3424Leu) n.4200A>T c.10400A>T (p.His3467Leu) | |
2 | g.73572275T>A | CA347282607 | ALMS1 | c.10017T>A (p.His3339Gln) c.3103T>A c.7298T>A c.4464T>A (p.His1488Gln) c.7343T>A c.10398T>A (p.His3466Gln) c.552T>A (p.His184Gln) c.1754T>A c.1495T>A c.3889T>A (n.3889T>A) c.10272T>A (p.His3424Gln) n.4201T>A c.10401T>A (p.His3467Gln) | |
2 | g.73572275T>C | CA427024231 | ALMS1 | c.10017T>C (p.His3339=) c.3103T>C c.7298T>C c.4464T>C (p.His1488=) c.7343T>C c.10398T>C (p.His3466=) c.552T>C (p.His184=) c.1754T>C c.1495T>C c.3889T>C (n.3889T>C) c.10272T>C (p.His3424=) n.4201T>C c.10401T>C (p.His3467=) | |
2 | g.73572275T>G | CA347282608 | ALMS1 | c.10017T>G (p.His3339Gln) c.3103T>G c.7298T>G c.4464T>G (p.His1488Gln) c.7343T>G c.10398T>G (p.His3466Gln) c.552T>G (p.His184Gln) c.1754T>G c.1495T>G c.3889T>G (n.3889T>G) c.10272T>G (p.His3424Gln) n.4201T>G c.10401T>G (p.His3467Gln) | |
2 | g.73572276T>A | CA347282609 | ALMS1 | c.10018T>A (p.Ser3340Thr) c.3104T>A c.7299T>A c.4465T>A (p.Ser1489Thr) c.7344T>A c.10399T>A (p.Ser3467Thr) c.553T>A (p.Ser185Thr) c.1755T>A c.1496T>A c.3890T>A (n.3890T>A) c.10273T>A (p.Ser3425Thr) n.4202T>A c.10402T>A (p.Ser3468Thr) | |
2 | g.73572276T>C | CA347282611 | ALMS1 | c.10018T>C (p.Ser3340Pro) c.3104T>C c.7299T>C c.4465T>C (p.Ser1489Pro) c.7344T>C c.10399T>C (p.Ser3467Pro) c.553T>C (p.Ser185Pro) c.1755T>C c.1496T>C c.3890T>C (n.3890T>C) c.10273T>C (p.Ser3425Pro) n.4202T>C c.10402T>C (p.Ser3468Pro) | |
2 | g.73572276T>G | CA347282613 | ALMS1 | c.10018T>G (p.Ser3340Ala) c.3104T>G c.7299T>G c.4465T>G (p.Ser1489Ala) c.7344T>G c.10399T>G (p.Ser3467Ala) c.553T>G (p.Ser185Ala) c.1755T>G c.1496T>G c.3890T>G (n.3890T>G) c.10273T>G (p.Ser3425Ala) n.4202T>G c.10402T>G (p.Ser3468Ala) | |
2 | g.73572277C>A | CA347282615 | ALMS1 | c.10019C>A (p.Ser3340Ter) c.3105C>A c.7300C>A c.4466C>A (p.Ser1489Ter) c.7345C>A c.10400C>A (p.Ser3467Ter) c.554C>A (p.Ser185Ter) c.1756C>A c.1497C>A c.3891C>A (n.3891C>A) c.10274C>A (p.Ser3425Ter) n.4203C>A c.10403C>A (p.Ser3468Ter) | |
2 | g.73572277C>G | CA347282619 | ALMS1 | c.10019C>G (p.Ser3340Ter) c.3105C>G c.7300C>G c.4466C>G (p.Ser1489Ter) c.7345C>G c.10400C>G (p.Ser3467Ter) c.554C>G (p.Ser185Ter) c.1756C>G c.1497C>G c.3891C>G (n.3891C>G) c.10274C>G (p.Ser3425Ter) n.4203C>G c.10403C>G (p.Ser3468Ter) | |
2 | g.73572277C>T | CA347282620 | ALMS1 | c.10019C>T (p.Ser3340Leu) c.3105C>T c.7300C>T c.4466C>T (p.Ser1489Leu) c.7345C>T c.10400C>T (p.Ser3467Leu) c.554C>T (p.Ser185Leu) c.1756C>T c.1497C>T c.3891C>T (n.3891C>T) c.10274C>T (p.Ser3425Leu) n.4203C>T c.10403C>T (p.Ser3468Leu) | gnomAD v4 |
2 | g.73572278A= | CA1261020799 | ALMS1 | c.10020A= (p.Ser3340=) c.3106A= c.7301A= c.4467A= (p.Ser1489=) c.7346A= c.10401A= (p.Ser3467=) c.555A= (p.Ser185=) c.1757A= c.1498A= c.3892A= (n.3892A=) c.10275A= (p.Ser3425=) n.4204A= c.10404A= (p.Ser3468=) | |
2 | g.73572278A>C | CA427024236 | ALMS1 | c.10020A>C (p.Ser3340=) c.3106A>C c.7301A>C c.4467A>C (p.Ser1489=) c.7346A>C c.10401A>C (p.Ser3467=) c.555A>C (p.Ser185=) c.1757A>C c.1498A>C c.3892A>C (n.3892A>C) c.10275A>C (p.Ser3425=) n.4204A>C c.10404A>C (p.Ser3468=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572278A>G | CA427024237 | ALMS1 | c.10020A>G (p.Ser3340=) c.3106A>G c.7301A>G c.4467A>G (p.Ser1489=) c.7346A>G c.10401A>G (p.Ser3467=) c.555A>G (p.Ser185=) c.1757A>G c.1498A>G c.3892A>G (n.3892A>G) c.10275A>G (p.Ser3425=) n.4204A>G c.10404A>G (p.Ser3468=) | |
2 | g.73572278A>T | CA427024238 | ALMS1 | c.10020A>T (p.Ser3340=) c.3106A>T c.7301A>T c.4467A>T (p.Ser1489=) c.7346A>T c.10401A>T (p.Ser3467=) c.555A>T (p.Ser185=) c.1757A>T c.1498A>T c.3892A>T (n.3892A>T) c.10275A>T (p.Ser3425=) n.4204A>T c.10404A>T (p.Ser3468=) | |
2 | g.73572279G>A | CA347282625 | ALMS1 | c.10021G>A (p.Glu3341Lys) c.3107G>A c.7302G>A c.4468G>A (p.Glu1490Lys) c.7347G>A c.10402G>A (p.Glu3468Lys) c.556G>A (p.Glu186Lys) c.1758G>A c.1499G>A c.3893G>A (n.3893G>A) c.10276G>A (p.Glu3426Lys) n.4205G>A c.10405G>A (p.Glu3469Lys) | |
2 | g.73572279G>C | CA347282627 | ALMS1 | c.10021G>C (p.Glu3341Gln) c.3107G>C c.7302G>C c.4468G>C (p.Glu1490Gln) c.7347G>C c.10402G>C (p.Glu3468Gln) c.556G>C (p.Glu186Gln) c.1758G>C c.1499G>C c.3893G>C (n.3893G>C) c.10276G>C (p.Glu3426Gln) n.4205G>C c.10405G>C (p.Glu3469Gln) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572279G= | CA1261020801 | ALMS1 | c.10021G= (p.Glu3341=) c.3107G= c.7302G= c.4468G= (p.Glu1490=) c.7347G= c.10402G= (p.Glu3468=) c.556G= (p.Glu186=) c.1758G= c.1499G= c.3893G= (n.3893G=) c.10276G= (p.Glu3426=) n.4205G= c.10405G= (p.Glu3469=) | |
2 | g.73572279G>T | CA347282629 | ALMS1 | c.10021G>T (p.Glu3341Ter) c.3107G>T c.7302G>T c.4468G>T (p.Glu1490Ter) c.7347G>T c.10402G>T (p.Glu3468Ter) c.556G>T (p.Glu186Ter) c.1758G>T c.1499G>T c.3893G>T (n.3893G>T) c.10276G>T (p.Glu3426Ter) n.4205G>T c.10405G>T (p.Glu3469Ter) | ClinVar gnomAD v4 |
2 | g.73572280A>C | CA347282633 | ALMS1 | c.10022A>C (p.Glu3341Ala) c.3108A>C c.7303A>C c.4469A>C (p.Glu1490Ala) c.7348A>C c.10403A>C (p.Glu3468Ala) c.557A>C (p.Glu186Ala) c.1759A>C c.1500A>C c.3894A>C (n.3894A>C) c.10277A>C (p.Glu3426Ala) n.4206A>C c.10406A>C (p.Glu3469Ala) | |
2 | g.73572280A>G | CA347282635 | ALMS1 | c.10022A>G (p.Glu3341Gly) c.3108A>G c.7303A>G c.4469A>G (p.Glu1490Gly) c.7348A>G c.10403A>G (p.Glu3468Gly) c.557A>G (p.Glu186Gly) c.1759A>G c.1500A>G c.3894A>G (n.3894A>G) c.10277A>G (p.Glu3426Gly) n.4206A>G c.10406A>G (p.Glu3469Gly) | |
2 | g.73572280A>T | CA347282637 | ALMS1 | c.10022A>T (p.Glu3341Val) c.3108A>T c.7303A>T c.4469A>T (p.Glu1490Val) c.7348A>T c.10403A>T (p.Glu3468Val) c.557A>T (p.Glu186Val) c.1759A>T c.1500A>T c.3894A>T (n.3894A>T) c.10277A>T (p.Glu3426Val) n.4206A>T c.10406A>T (p.Glu3469Val) | |
2 | g.73572281A= | CA1261020803 | ALMS1 | c.10023A= (p.Glu3341=) c.3109A= c.7304A= c.4470A= (p.Glu1490=) c.7349A= c.10404A= (p.Glu3468=) c.558A= (p.Glu186=) c.1760A= c.1501A= c.3895A= (n.3895A=) c.10278A= (p.Glu3426=) n.4207A= c.10407A= (p.Glu3469=) | |
2 | g.73572281A>C | CA347282641 | ALMS1 | c.10023A>C (p.Glu3341Asp) c.3109A>C c.7304A>C c.4470A>C (p.Glu1490Asp) c.7349A>C c.10404A>C (p.Glu3468Asp) c.558A>C (p.Glu186Asp) c.1760A>C c.1501A>C c.3895A>C (n.3895A>C) c.10278A>C (p.Glu3426Asp) n.4207A>C c.10407A>C (p.Glu3469Asp) | |
2 | g.73572281A>G | CA427024241 | ALMS1 | c.10023A>G (p.Glu3341=) c.3109A>G c.7304A>G c.4470A>G (p.Glu1490=) c.7349A>G c.10404A>G (p.Glu3468=) c.558A>G (p.Glu186=) c.1760A>G c.1501A>G c.3895A>G (n.3895A>G) c.10278A>G (p.Glu3426=) n.4207A>G c.10407A>G (p.Glu3469=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572281A>T | CA347282639 | ALMS1 | c.10023A>T (p.Glu3341Asp) c.3109A>T c.7304A>T c.4470A>T (p.Glu1490Asp) c.7349A>T c.10404A>T (p.Glu3468Asp) c.558A>T (p.Glu186Asp) c.1760A>T c.1501A>T c.3895A>T (n.3895A>T) c.10278A>T (p.Glu3426Asp) n.4207A>T c.10407A>T (p.Glu3469Asp) | dbSNP |
2 | g.73572282T>A | CA347282644 | ALMS1 | c.10024T>A (p.Phe3342Ile) c.3110T>A c.7305T>A c.4471T>A (p.Phe1491Ile) c.7350T>A c.10405T>A (p.Phe3469Ile) c.559T>A (p.Phe187Ile) c.1761T>A c.1502T>A c.3896T>A (n.3896T>A) c.10279T>A (p.Phe3427Ile) n.4208T>A c.10408T>A (p.Phe3470Ile) | |
2 | g.73572282T>C | CA347282646 | ALMS1 | c.10024T>C (p.Phe3342Leu) c.3110T>C c.7305T>C c.4471T>C (p.Phe1491Leu) c.7350T>C c.10405T>C (p.Phe3469Leu) c.559T>C (p.Phe187Leu) c.1761T>C c.1502T>C c.3896T>C (n.3896T>C) c.10279T>C (p.Phe3427Leu) n.4208T>C c.10408T>C (p.Phe3470Leu) | |
2 | g.73572282T>G | CA347282647 | ALMS1 | c.10024T>G (p.Phe3342Val) c.3110T>G c.7305T>G c.4471T>G (p.Phe1491Val) c.7350T>G c.10405T>G (p.Phe3469Val) c.559T>G (p.Phe187Val) c.1761T>G c.1502T>G c.3896T>G (n.3896T>G) c.10279T>G (p.Phe3427Val) n.4208T>G c.10408T>G (p.Phe3470Val) | |
2 | g.73572283T>A | CA347282649 | ALMS1 | c.10025T>A (p.Phe3342Tyr) c.3111T>A c.7306T>A c.4472T>A (p.Phe1491Tyr) c.7351T>A c.10406T>A (p.Phe3469Tyr) c.560T>A (p.Phe187Tyr) c.1762T>A c.1503T>A c.3897T>A (n.3897T>A) c.10280T>A (p.Phe3427Tyr) n.4209T>A c.10409T>A (p.Phe3470Tyr) | |
2 | g.73572283T>C | CA347282651 | ALMS1 | c.10025T>C (p.Phe3342Ser) c.3111T>C c.7306T>C c.4472T>C (p.Phe1491Ser) c.7351T>C c.10406T>C (p.Phe3469Ser) c.560T>C (p.Phe187Ser) c.1762T>C c.1503T>C c.3897T>C (n.3897T>C) c.10280T>C (p.Phe3427Ser) n.4209T>C c.10409T>C (p.Phe3470Ser) | |
2 | g.73572283T>G | CA347282654 | ALMS1 | c.10025T>G (p.Phe3342Cys) c.3111T>G c.7306T>G c.4472T>G (p.Phe1491Cys) c.7351T>G c.10406T>G (p.Phe3469Cys) c.560T>G (p.Phe187Cys) c.1762T>G c.1503T>G c.3897T>G (n.3897T>G) c.10280T>G (p.Phe3427Cys) n.4209T>G c.10409T>G (p.Phe3470Cys) | |
2 | g.73572284T>A | CA347282669 | ALMS1 | c.10026T>A (p.Phe3342Leu) c.3112T>A c.7307T>A c.4473T>A (p.Phe1491Leu) c.7352T>A c.10407T>A (p.Phe3469Leu) c.561T>A (p.Phe187Leu) c.1763T>A c.1504T>A c.3898T>A (n.3898T>A) c.10281T>A (p.Phe3427Leu) n.4210T>A c.10410T>A (p.Phe3470Leu) | |
2 | g.73572284T>C | CA427024243 | ALMS1 | c.10026T>C (p.Phe3342=) c.3112T>C c.7307T>C c.4473T>C (p.Phe1491=) c.7352T>C c.10407T>C (p.Phe3469=) c.561T>C (p.Phe187=) c.1763T>C c.1504T>C c.3898T>C (n.3898T>C) c.10281T>C (p.Phe3427=) n.4210T>C c.10410T>C (p.Phe3470=) | gnomAD v4 |
2 | g.73572284T>G | CA347282671 | ALMS1 | c.10026T>G (p.Phe3342Leu) c.3112T>G c.7307T>G c.4473T>G (p.Phe1491Leu) c.7352T>G c.10407T>G (p.Phe3469Leu) c.561T>G (p.Phe187Leu) c.1763T>G c.1504T>G c.3898T>G (n.3898T>G) c.10281T>G (p.Phe3427Leu) n.4210T>G c.10410T>G (p.Phe3470Leu) | |
2 | g.73572285G>A | CA347282674 | ALMS1 | c.10027G>A (p.Glu3343Lys) c.3113G>A c.7308G>A c.4474G>A (p.Glu1492Lys) c.7353G>A c.10408G>A (p.Glu3470Lys) c.562G>A (p.Glu188Lys) c.1764G>A c.1505G>A c.3899G>A (n.3899G>A) c.10282G>A (p.Glu3428Lys) n.4211G>A c.10411G>A (p.Glu3471Lys) | |
2 | g.73572285G>C | CA347282677 | ALMS1 | c.10027G>C (p.Glu3343Gln) c.3113G>C c.7308G>C c.4474G>C (p.Glu1492Gln) c.7353G>C c.10408G>C (p.Glu3470Gln) c.562G>C (p.Glu188Gln) c.1764G>C c.1505G>C c.3899G>C (n.3899G>C) c.10282G>C (p.Glu3428Gln) n.4211G>C c.10411G>C (p.Glu3471Gln) | |
2 | g.73572285G>T | CA347282679 | ALMS1 | c.10027G>T (p.Glu3343Ter) c.3113G>T c.7308G>T c.4474G>T (p.Glu1492Ter) c.7353G>T c.10408G>T (p.Glu3470Ter) c.562G>T (p.Glu188Ter) c.1764G>T c.1505G>T c.3899G>T (n.3899G>T) c.10282G>T (p.Glu3428Ter) n.4211G>T c.10411G>T (p.Glu3471Ter) | |
2 | g.73572286A= | CA1261020806 | ALMS1 | c.10028A= (p.Glu3343=) c.3114A= c.7309A= c.4475A= (p.Glu1492=) c.7354A= c.10409A= (p.Glu3470=) c.563A= (p.Glu188=) c.1765A= c.1506A= c.3900A= (n.3900A=) c.10283A= (p.Glu3428=) n.4212A= c.10412A= (p.Glu3471=) | |
2 | g.73572286A>C | CA347282682 | ALMS1 | c.10028A>C (p.Glu3343Ala) c.3114A>C c.7309A>C c.4475A>C (p.Glu1492Ala) c.7354A>C c.10409A>C (p.Glu3470Ala) c.563A>C (p.Glu188Ala) c.1765A>C c.1506A>C c.3900A>C (n.3900A>C) c.10283A>C (p.Glu3428Ala) n.4212A>C c.10412A>C (p.Glu3471Ala) | |
2 | g.73572286A>G | CA1714999 | ALMS1 | c.10028A>G (p.Glu3343Gly) c.3114A>G c.7309A>G c.4475A>G (p.Glu1492Gly) c.7354A>G c.10409A>G (p.Glu3470Gly) c.563A>G (p.Glu188Gly) c.1765A>G c.1506A>G c.3900A>G (n.3900A>G) c.10283A>G (p.Glu3428Gly) n.4212A>G c.10412A>G (p.Glu3471Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572286A>T | CA347282687 | ALMS1 | c.10028A>T (p.Glu3343Val) c.3114A>T c.7309A>T c.4475A>T (p.Glu1492Val) c.7354A>T c.10409A>T (p.Glu3470Val) c.563A>T (p.Glu188Val) c.1765A>T c.1506A>T c.3900A>T (n.3900A>T) c.10283A>T (p.Glu3428Val) n.4212A>T c.10412A>T (p.Glu3471Val) | |
2 | g.73572287A>C | CA347282693 | ALMS1 | c.10029A>C (p.Glu3343Asp) c.3115A>C c.7310A>C c.4476A>C (p.Glu1492Asp) c.7355A>C c.10410A>C (p.Glu3470Asp) c.564A>C (p.Glu188Asp) c.1766A>C c.1507A>C c.3901A>C (n.3901A>C) c.10284A>C (p.Glu3428Asp) n.4213A>C c.10413A>C (p.Glu3471Asp) | |
2 | g.73572287A>G | CA427024246 | ALMS1 | c.10029A>G (p.Glu3343=) c.3115A>G c.7310A>G c.4476A>G (p.Glu1492=) c.7355A>G c.10410A>G (p.Glu3470=) c.564A>G (p.Glu188=) c.1766A>G c.1507A>G c.3901A>G (n.3901A>G) c.10284A>G (p.Glu3428=) n.4213A>G c.10413A>G (p.Glu3471=) | |
2 | g.73572287A>T | CA347282690 | ALMS1 | c.10029A>T (p.Glu3343Asp) c.3115A>T c.7310A>T c.4476A>T (p.Glu1492Asp) c.7355A>T c.10410A>T (p.Glu3470Asp) c.564A>T (p.Glu188Asp) c.1766A>T c.1507A>T c.3901A>T (n.3901A>T) c.10284A>T (p.Glu3428Asp) n.4213A>T c.10413A>T (p.Glu3471Asp) | |
2 | g.73572288A>C | CA347282698 | ALMS1 | c.10030A>C (p.Asn3344His) c.3116A>C c.7311A>C c.4477A>C (p.Asn1493His) c.7356A>C c.10411A>C (p.Asn3471His) c.565A>C (p.Asn189His) c.1767A>C c.1508A>C c.3902A>C (n.3902A>C) c.10285A>C (p.Asn3429His) n.4214A>C c.10414A>C (p.Asn3472His) | |
2 | g.73572288A>G | CA347282700 | ALMS1 | c.10030A>G (p.Asn3344Asp) c.3116A>G c.7311A>G c.4477A>G (p.Asn1493Asp) c.7356A>G c.10411A>G (p.Asn3471Asp) c.565A>G (p.Asn189Asp) c.1767A>G c.1508A>G c.3902A>G (n.3902A>G) c.10285A>G (p.Asn3429Asp) n.4214A>G c.10414A>G (p.Asn3472Asp) | |
2 | g.73572288A>T | CA347282702 | ALMS1 | c.10030A>T (p.Asn3344Tyr) c.3116A>T c.7311A>T c.4477A>T (p.Asn1493Tyr) c.7356A>T c.10411A>T (p.Asn3471Tyr) c.565A>T (p.Asn189Tyr) c.1767A>T c.1508A>T c.3902A>T (n.3902A>T) c.10285A>T (p.Asn3429Tyr) n.4214A>T c.10414A>T (p.Asn3472Tyr) | |
2 | g.73572289A>C | CA347282705 | ALMS1 | c.10031A>C (p.Asn3344Thr) c.3117A>C c.7312A>C c.4478A>C (p.Asn1493Thr) c.7357A>C c.10412A>C (p.Asn3471Thr) c.566A>C (p.Asn189Thr) c.1768A>C c.1509A>C c.3903A>C (n.3903A>C) c.10286A>C (p.Asn3429Thr) n.4215A>C c.10415A>C (p.Asn3472Thr) | ClinVar dbSNP |
2 | g.73572289A>G | CA347282707 | ALMS1 | c.10031A>G (p.Asn3344Ser) c.3117A>G c.7312A>G c.4478A>G (p.Asn1493Ser) c.7357A>G c.10412A>G (p.Asn3471Ser) c.566A>G (p.Asn189Ser) c.1768A>G c.1509A>G c.3903A>G (n.3903A>G) c.10286A>G (p.Asn3429Ser) n.4215A>G c.10415A>G (p.Asn3472Ser) | |
2 | g.73572289A>T | CA347282710 | ALMS1 | c.10031A>T (p.Asn3344Ile) c.3117A>T c.7312A>T c.4478A>T (p.Asn1493Ile) c.7357A>T c.10412A>T (p.Asn3471Ile) c.566A>T (p.Asn189Ile) c.1768A>T c.1509A>T c.3903A>T (n.3903A>T) c.10286A>T (p.Asn3429Ile) n.4215A>T c.10415A>T (p.Asn3472Ile) | |
2 | g.73572290T>A | CA347282715 | ALMS1 | c.10032T>A (p.Asn3344Lys) c.3118T>A c.7313T>A c.4479T>A (p.Asn1493Lys) c.7358T>A c.10413T>A (p.Asn3471Lys) c.567T>A (p.Asn189Lys) c.1769T>A c.1510T>A c.3904T>A (n.3904T>A) c.10287T>A (p.Asn3429Lys) n.4216T>A c.10416T>A (p.Asn3472Lys) | |
2 | g.73572290T>C | CA427024253 | ALMS1 | c.10032T>C (p.Asn3344=) c.3118T>C c.7313T>C c.4479T>C (p.Asn1493=) c.7358T>C c.10413T>C (p.Asn3471=) c.567T>C (p.Asn189=) c.1769T>C c.1510T>C c.3904T>C (n.3904T>C) c.10287T>C (p.Asn3429=) n.4216T>C c.10416T>C (p.Asn3472=) | ClinVar |
2 | g.73572290T>G | CA347282713 | ALMS1 | c.10032T>G (p.Asn3344Lys) c.3118T>G c.7313T>G c.4479T>G (p.Asn1493Lys) c.7358T>G c.10413T>G (p.Asn3471Lys) c.567T>G (p.Asn189Lys) c.1769T>G c.1510T>G c.3904T>G (n.3904T>G) c.10287T>G (p.Asn3429Lys) n.4216T>G c.10416T>G (p.Asn3472Lys) | |
2 | g.73572293_73572295del | CA2659616827 | ALMS1 | c.10035_10037del (p.Thr3346del) c.3121_3123del c.7316_7318del c.4482_4484del (p.Thr1495del) c.7361_7363del c.10416_10418del (p.Thr3473del) c.570_572del (p.Thr191del) c.1772_1774del c.1513_1515del c.3907_3909del (n.3907_3909del) c.10290_10292del (p.Thr3431del) n.4219_4221del c.10419_10421del (p.Thr3474del) | gnomAD v4 |
2 | g.73572291A= | CA1261020812 | ALMS1 | c.10033A= (p.Thr3345=) c.3119A= c.7314A= c.4480A= (p.Thr1494=) c.7359A= c.10414A= (p.Thr3472=) c.568A= (p.Thr190=) c.1770A= c.1511A= c.3905A= (n.3905A=) c.10288A= (p.Thr3430=) n.4217A= c.10417A= (p.Thr3473=) | |
2 | g.73572291A>C | CA347282719 | ALMS1 | c.10033A>C (p.Thr3345Pro) c.3119A>C c.7314A>C c.4480A>C (p.Thr1494Pro) c.7359A>C c.10414A>C (p.Thr3472Pro) c.568A>C (p.Thr190Pro) c.1770A>C c.1511A>C c.3905A>C (n.3905A>C) c.10288A>C (p.Thr3430Pro) n.4217A>C c.10417A>C (p.Thr3473Pro) | |
2 | g.73572291A>G | CA347282721 | ALMS1 | c.10033A>G (p.Thr3345Ala) c.3119A>G c.7314A>G c.4480A>G (p.Thr1494Ala) c.7359A>G c.10414A>G (p.Thr3472Ala) c.568A>G (p.Thr190Ala) c.1770A>G c.1511A>G c.3905A>G (n.3905A>G) c.10288A>G (p.Thr3430Ala) n.4217A>G c.10417A>G (p.Thr3473Ala) | |
2 | g.73572291A>T | CA50386106 | ALMS1 | c.10033A>T (p.Thr3345Ser) c.3119A>T c.7314A>T c.4480A>T (p.Thr1494Ser) c.7359A>T c.10414A>T (p.Thr3472Ser) c.568A>T (p.Thr190Ser) c.1770A>T c.1511A>T c.3905A>T (n.3905A>T) c.10288A>T (p.Thr3430Ser) n.4217A>T c.10417A>T (p.Thr3473Ser) | dbSNP gnomAD v4 |
2 | g.73572292C>A | CA50386110 | ALMS1 | c.10034C>A (p.Thr3345Asn) c.3120C>A c.7315C>A c.4481C>A (p.Thr1494Asn) c.7360C>A c.10415C>A (p.Thr3472Asn) c.569C>A (p.Thr190Asn) c.1771C>A c.1512C>A c.3906C>A (n.3906C>A) c.10289C>A (p.Thr3430Asn) n.4218C>A c.10418C>A (p.Thr3473Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572292C= | CA1261020815 | ALMS1 | c.10034C= (p.Thr3345=) c.3120C= c.7315C= c.4481C= (p.Thr1494=) c.7360C= c.10415C= (p.Thr3472=) c.569C= (p.Thr190=) c.1771C= c.1512C= c.3906C= (n.3906C=) c.10289C= (p.Thr3430=) n.4218C= c.10418C= (p.Thr3473=) | |
2 | g.73572292C>G | CA347282727 | ALMS1 | c.10034C>G (p.Thr3345Ser) c.3120C>G c.7315C>G c.4481C>G (p.Thr1494Ser) c.7360C>G c.10415C>G (p.Thr3472Ser) c.569C>G (p.Thr190Ser) c.1771C>G c.1512C>G c.3906C>G (n.3906C>G) c.10289C>G (p.Thr3430Ser) n.4218C>G c.10418C>G (p.Thr3473Ser) | |
2 | g.73572292C>T | CA347282729 | ALMS1 | c.10034C>T (p.Thr3345Ile) c.3120C>T c.7315C>T c.4481C>T (p.Thr1494Ile) c.7360C>T c.10415C>T (p.Thr3472Ile) c.569C>T (p.Thr190Ile) c.1771C>T c.1512C>T c.3906C>T (n.3906C>T) c.10289C>T (p.Thr3430Ile) n.4218C>T c.10418C>T (p.Thr3473Ile) | |
2 | g.73572293T>A | CA427024260 | ALMS1 | c.10035T>A (p.Thr3345=) c.3121T>A c.7316T>A c.4482T>A (p.Thr1494=) c.7361T>A c.10416T>A (p.Thr3472=) c.570T>A (p.Thr190=) c.1772T>A c.1513T>A c.3907T>A (n.3907T>A) c.10290T>A (p.Thr3430=) n.4219T>A c.10419T>A (p.Thr3473=) | |
2 | g.73572293T>C | CA427024259 | ALMS1 | c.10035T>C (p.Thr3345=) c.3121T>C c.7316T>C c.4482T>C (p.Thr1494=) c.7361T>C c.10416T>C (p.Thr3472=) c.570T>C (p.Thr190=) c.1772T>C c.1513T>C c.3907T>C (n.3907T>C) c.10290T>C (p.Thr3430=) n.4219T>C c.10419T>C (p.Thr3473=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572293T>G | CA427024257 | ALMS1 | c.10035T>G (p.Thr3345=) c.3121T>G c.7316T>G c.4482T>G (p.Thr1494=) c.7361T>G c.10416T>G (p.Thr3472=) c.570T>G (p.Thr190=) c.1772T>G c.1513T>G c.3907T>G (n.3907T>G) c.10290T>G (p.Thr3430=) n.4219T>G c.10419T>G (p.Thr3473=) | |
2 | g.73572293T= | CA1261020818 | ALMS1 | c.10035T= (p.Thr3345=) c.3121T= c.7316T= c.4482T= (p.Thr1494=) c.7361T= c.10416T= (p.Thr3472=) c.570T= (p.Thr190=) c.1772T= c.1513T= c.3907T= (n.3907T=) c.10290T= (p.Thr3430=) n.4219T= c.10419T= (p.Thr3473=) | |
2 | g.73572294A>C | CA347282733 | ALMS1 | c.10036A>C (p.Thr3346Pro) c.3122A>C c.7317A>C c.4483A>C (p.Thr1495Pro) c.7362A>C c.10417A>C (p.Thr3473Pro) c.571A>C (p.Thr191Pro) c.1773A>C c.1514A>C c.3908A>C (n.3908A>C) c.10291A>C (p.Thr3431Pro) n.4220A>C c.10420A>C (p.Thr3474Pro) | |
2 | g.73572294A>G | CA347282738 | ALMS1 | c.10036A>G (p.Thr3346Ala) c.3122A>G c.7317A>G c.4483A>G (p.Thr1495Ala) c.7362A>G c.10417A>G (p.Thr3473Ala) c.571A>G (p.Thr191Ala) c.1773A>G c.1514A>G c.3908A>G (n.3908A>G) c.10291A>G (p.Thr3431Ala) n.4220A>G c.10420A>G (p.Thr3474Ala) | |
2 | g.73572294A>T | CA347282735 | ALMS1 | c.10036A>T (p.Thr3346Ser) c.3122A>T c.7317A>T c.4483A>T (p.Thr1495Ser) c.7362A>T c.10417A>T (p.Thr3473Ser) c.571A>T (p.Thr191Ser) c.1773A>T c.1514A>T c.3908A>T (n.3908A>T) c.10291A>T (p.Thr3431Ser) n.4220A>T c.10420A>T (p.Thr3474Ser) | ClinVar dbSNP |
2 | g.73572295C>A | CA347282742 | ALMS1 | c.10037C>A (p.Thr3346Asn) c.3123C>A c.7318C>A c.4484C>A (p.Thr1495Asn) c.7363C>A c.10418C>A (p.Thr3473Asn) c.572C>A (p.Thr191Asn) c.1774C>A c.1515C>A c.3909C>A (n.3909C>A) c.10292C>A (p.Thr3431Asn) n.4221C>A c.10421C>A (p.Thr3474Asn) | |
2 | g.73572295C>G | CA347282748 | ALMS1 | c.10037C>G (p.Thr3346Ser) c.3123C>G c.7318C>G c.4484C>G (p.Thr1495Ser) c.7363C>G c.10418C>G (p.Thr3473Ser) c.572C>G (p.Thr191Ser) c.1774C>G c.1515C>G c.3909C>G (n.3909C>G) c.10292C>G (p.Thr3431Ser) n.4221C>G c.10421C>G (p.Thr3474Ser) | |
2 | g.73572295C>T | CA347282745 | ALMS1 | c.10037C>T (p.Thr3346Ile) c.3123C>T c.7318C>T c.4484C>T (p.Thr1495Ile) c.7363C>T c.10418C>T (p.Thr3473Ile) c.572C>T (p.Thr191Ile) c.1774C>T c.1515C>T c.3909C>T (n.3909C>T) c.10292C>T (p.Thr3431Ile) n.4221C>T c.10421C>T (p.Thr3474Ile) | gnomAD v4 |
2 | g.73572296C>A | CA427024264 | ALMS1 | c.10038C>A (p.Thr3346=) c.3124C>A c.7319C>A c.4485C>A (p.Thr1495=) c.7364C>A c.10419C>A (p.Thr3473=) c.573C>A (p.Thr191=) c.1775C>A c.1516C>A c.3910C>A (n.3910C>A) c.10293C>A (p.Thr3431=) n.4222C>A c.10422C>A (p.Thr3474=) | |
2 | g.73572296C>G | CA427024266 | ALMS1 | c.10038C>G (p.Thr3346=) c.3124C>G c.7319C>G c.4485C>G (p.Thr1495=) c.7364C>G c.10419C>G (p.Thr3473=) c.573C>G (p.Thr191=) c.1775C>G c.1516C>G c.3910C>G (n.3910C>G) c.10293C>G (p.Thr3431=) n.4222C>G c.10422C>G (p.Thr3474=) | |
2 | g.73572296C>T | CA427024265 | ALMS1 | c.10038C>T (p.Thr3346=) c.3124C>T c.7319C>T c.4485C>T (p.Thr1495=) c.7364C>T c.10419C>T (p.Thr3473=) c.573C>T (p.Thr191=) c.1775C>T c.1516C>T c.3910C>T (n.3910C>T) c.10293C>T (p.Thr3431=) n.4222C>T c.10422C>T (p.Thr3474=) | gnomAD v4 |
2 | g.73572297C>A | CA347282750 | ALMS1 | c.10039C>A (p.Arg3347Ser) c.3125C>A c.7320C>A c.4486C>A (p.Arg1496Ser) c.7365C>A c.10420C>A (p.Arg3474Ser) c.574C>A (p.Arg192Ser) c.1776C>A c.1517C>A c.3911C>A (n.3911C>A) c.10294C>A (p.Arg3432Ser) n.4223C>A c.10423C>A (p.Arg3475Ser) | |
2 | g.73572297C= | CA1261020820 | ALMS1 | c.10039C= (p.Arg3347=) c.3125C= c.7320C= c.4486C= (p.Arg1496=) c.7365C= c.10420C= (p.Arg3474=) c.574C= (p.Arg192=) c.1776C= c.1517C= c.3911C= (n.3911C=) c.10294C= (p.Arg3432=) n.4223C= c.10423C= (p.Arg3475=) | |
2 | g.73572297C>G | CA347282753 | ALMS1 | c.10039C>G (p.Arg3347Gly) c.3125C>G c.7320C>G c.4486C>G (p.Arg1496Gly) c.7365C>G c.10420C>G (p.Arg3474Gly) c.574C>G (p.Arg192Gly) c.1776C>G c.1517C>G c.3911C>G (n.3911C>G) c.10294C>G (p.Arg3432Gly) n.4223C>G c.10423C>G (p.Arg3475Gly) | gnomAD v4 |
2 | g.73572297C>T | CA1715000 | ALMS1 | c.10039C>T (p.Arg3347Cys) c.3125C>T c.7320C>T c.4486C>T (p.Arg1496Cys) c.7365C>T c.10420C>T (p.Arg3474Cys) c.574C>T (p.Arg192Cys) c.1776C>T c.1517C>T c.3911C>T (n.3911C>T) c.10294C>T (p.Arg3432Cys) n.4223C>T c.10423C>T (p.Arg3475Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572298del | CA2573135798 | ALMS1 | c.10040del (p.Arg3347LeufsTer?) c.3126del c.7321del c.4487del (p.Arg1496LeufsTer?) c.7366del c.10421del (p.Arg3474LeufsTer?) c.575del (p.Arg192LeufsTer?) c.1777del c.1518del c.3912del (n.3912del) c.10295del (p.Arg3432LeufsTer?) n.4224del c.10424del (p.Arg3475LeufsTer?) | ClinVar dbSNP |
2 | g.73572298G>A | CA1715001 | ALMS1 | c.10040G>A (p.Arg3347His) c.3126G>A c.7321G>A c.4487G>A (p.Arg1496His) c.7366G>A c.10421G>A (p.Arg3474His) c.575G>A (p.Arg192His) c.1777G>A c.1518G>A c.3912G>A (n.3912G>A) c.10295G>A (p.Arg3432His) n.4224G>A c.10424G>A (p.Arg3475His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572298G>C | CA347282759 | ALMS1 | c.10040G>C (p.Arg3347Pro) c.3126G>C c.7321G>C c.4487G>C (p.Arg1496Pro) c.7366G>C c.10421G>C (p.Arg3474Pro) c.575G>C (p.Arg192Pro) c.1777G>C c.1518G>C c.3912G>C (n.3912G>C) c.10295G>C (p.Arg3432Pro) n.4224G>C c.10424G>C (p.Arg3475Pro) | |
2 | g.73572298G= | CA1261020826 | ALMS1 | c.10040G= (p.Arg3347=) c.3126G= c.7321G= c.4487G= (p.Arg1496=) c.7366G= c.10421G= (p.Arg3474=) c.575G= (p.Arg192=) c.1777G= c.1518G= c.3912G= (n.3912G=) c.10295G= (p.Arg3432=) n.4224G= c.10424G= (p.Arg3475=) | |
2 | g.73572298G>T | CA50386118 | ALMS1 | c.10040G>T (p.Arg3347Leu) c.3126G>T c.7321G>T c.4487G>T (p.Arg1496Leu) c.7366G>T c.10421G>T (p.Arg3474Leu) c.575G>T (p.Arg192Leu) c.1777G>T c.1518G>T c.3912G>T (n.3912G>T) c.10295G>T (p.Arg3432Leu) n.4224G>T c.10424G>T (p.Arg3475Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572299T>A | CA427024271 | ALMS1 | c.10041T>A (p.Arg3347=) c.3127T>A c.7322T>A c.4488T>A (p.Arg1496=) c.7367T>A c.10422T>A (p.Arg3474=) c.576T>A (p.Arg192=) c.1778T>A c.1519T>A c.3913T>A (n.3913T>A) c.10296T>A (p.Arg3432=) n.4225T>A c.10425T>A (p.Arg3475=) | |
2 | g.73572299T>C | CA427024272 | ALMS1 | c.10041T>C (p.Arg3347=) c.3127T>C c.7322T>C c.4488T>C (p.Arg1496=) c.7367T>C c.10422T>C (p.Arg3474=) c.576T>C (p.Arg192=) c.1778T>C c.1519T>C c.3913T>C (n.3913T>C) c.10296T>C (p.Arg3432=) n.4225T>C c.10425T>C (p.Arg3475=) | |
2 | g.73572299T>G | CA427024273 | ALMS1 | c.10041T>G (p.Arg3347=) c.3127T>G c.7322T>G c.4488T>G (p.Arg1496=) c.7367T>G c.10422T>G (p.Arg3474=) c.576T>G (p.Arg192=) c.1778T>G c.1519T>G c.3913T>G (n.3913T>G) c.10296T>G (p.Arg3432=) n.4225T>G c.10425T>G (p.Arg3475=) | |
2 | g.73572300T>A | CA347282763 | ALMS1 | c.10042T>A (p.Ser3348Thr) c.3128T>A c.7323T>A c.4489T>A (p.Ser1497Thr) c.7368T>A c.10423T>A (p.Ser3475Thr) c.577T>A (p.Ser193Thr) c.1779T>A c.1520T>A c.3914T>A (n.3914T>A) c.10297T>A (p.Ser3433Thr) n.4226T>A c.10426T>A (p.Ser3476Thr) | |
2 | g.73572300T>C | CA347282766 | ALMS1 | c.10042T>C (p.Ser3348Pro) c.3128T>C c.7323T>C c.4489T>C (p.Ser1497Pro) c.7368T>C c.10423T>C (p.Ser3475Pro) c.577T>C (p.Ser193Pro) c.1779T>C c.1520T>C c.3914T>C (n.3914T>C) c.10297T>C (p.Ser3433Pro) n.4226T>C c.10426T>C (p.Ser3476Pro) | |
2 | g.73572300T>G | CA347282767 | ALMS1 | c.10042T>G (p.Ser3348Ala) c.3128T>G c.7323T>G c.4489T>G (p.Ser1497Ala) c.7368T>G c.10423T>G (p.Ser3475Ala) c.577T>G (p.Ser193Ala) c.1779T>G c.1520T>G c.3914T>G (n.3914T>G) c.10297T>G (p.Ser3433Ala) n.4226T>G c.10426T>G (p.Ser3476Ala) | |
2 | g.73572301C>A | CA347282771 | ALMS1 | c.10043C>A (p.Ser3348Tyr) c.3129C>A c.7324C>A c.4490C>A (p.Ser1497Tyr) c.7369C>A c.10424C>A (p.Ser3475Tyr) c.578C>A (p.Ser193Tyr) c.1780C>A c.1521C>A c.3915C>A (n.3915C>A) c.10298C>A (p.Ser3433Tyr) n.4227C>A c.10427C>A (p.Ser3476Tyr) | |
2 | g.73572301C= | CA1261020830 | ALMS1 | c.10043C= (p.Ser3348=) c.3129C= c.7324C= c.4490C= (p.Ser1497=) c.7369C= c.10424C= (p.Ser3475=) c.578C= (p.Ser193=) c.1780C= c.1521C= c.3915C= (n.3915C=) c.10298C= (p.Ser3433=) n.4227C= c.10427C= (p.Ser3476=) | |
2 | g.73572301C>G | CA347282773 | ALMS1 | c.10043C>G (p.Ser3348Cys) c.3129C>G c.7324C>G c.4490C>G (p.Ser1497Cys) c.7369C>G c.10424C>G (p.Ser3475Cys) c.578C>G (p.Ser193Cys) c.1780C>G c.1521C>G c.3915C>G (n.3915C>G) c.10298C>G (p.Ser3433Cys) n.4227C>G c.10427C>G (p.Ser3476Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572301C>T | CA347282775 | ALMS1 | c.10043C>T (p.Ser3348Phe) c.3129C>T c.7324C>T c.4490C>T (p.Ser1497Phe) c.7369C>T c.10424C>T (p.Ser3475Phe) c.578C>T (p.Ser193Phe) c.1780C>T c.1521C>T c.3915C>T (n.3915C>T) c.10298C>T (p.Ser3433Phe) n.4227C>T c.10427C>T (p.Ser3476Phe) | |
2 | g.73572302T>A | CA427024275 | ALMS1 | c.10044T>A (p.Ser3348=) c.3130T>A c.7325T>A c.4491T>A (p.Ser1497=) c.7370T>A c.10425T>A (p.Ser3475=) c.579T>A (p.Ser193=) c.1781T>A c.1522T>A c.3916T>A (n.3916T>A) c.10299T>A (p.Ser3433=) n.4228T>A c.10428T>A (p.Ser3476=) | |
2 | g.73572302T>C | CA1715002 | ALMS1 | c.10044T>C (p.Ser3348=) c.3130T>C c.7325T>C c.4491T>C (p.Ser1497=) c.7370T>C c.10425T>C (p.Ser3475=) c.579T>C (p.Ser193=) c.1781T>C c.1522T>C c.3916T>C (n.3916T>C) c.10299T>C (p.Ser3433=) n.4228T>C c.10428T>C (p.Ser3476=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572302T>G | CA427024276 | ALMS1 | c.10044T>G (p.Ser3348=) c.3130T>G c.7325T>G c.4491T>G (p.Ser1497=) c.7370T>G c.10425T>G (p.Ser3475=) c.579T>G (p.Ser193=) c.1781T>G c.1522T>G c.3916T>G (n.3916T>G) c.10299T>G (p.Ser3433=) n.4228T>G c.10428T>G (p.Ser3476=) | ClinVar |
2 | g.73572302T= | CA1261020832 | ALMS1 | c.10044T= (p.Ser3348=) c.3130T= c.7325T= c.4491T= (p.Ser1497=) c.7370T= c.10425T= (p.Ser3475=) c.579T= (p.Ser193=) c.1781T= c.1522T= c.3916T= (n.3916T=) c.10299T= (p.Ser3433=) n.4228T= c.10428T= (p.Ser3476=) | |
2 | g.73572303G>A | CA347282778 | ALMS1 | c.10045G>A (p.Val3349Ile) c.3131G>A c.7326G>A c.4492G>A (p.Val1498Ile) c.7371G>A c.10426G>A (p.Val3476Ile) c.580G>A (p.Val194Ile) c.1782G>A c.1523G>A c.3917G>A (n.3917G>A) c.10300G>A (p.Val3434Ile) n.4229G>A c.10429G>A (p.Val3477Ile) | |
2 | g.73572303G>C | CA347282780 | ALMS1 | c.10045G>C (p.Val3349Leu) c.3131G>C c.7326G>C c.4492G>C (p.Val1498Leu) c.7371G>C c.10426G>C (p.Val3476Leu) c.580G>C (p.Val194Leu) c.1782G>C c.1523G>C c.3917G>C (n.3917G>C) c.10300G>C (p.Val3434Leu) n.4229G>C c.10429G>C (p.Val3477Leu) | gnomAD v4 |
2 | g.73572303G>T | CA347282782 | ALMS1 | c.10045G>T (p.Val3349Phe) c.3131G>T c.7326G>T c.4492G>T (p.Val1498Phe) c.7371G>T c.10426G>T (p.Val3476Phe) c.580G>T (p.Val194Phe) c.1782G>T c.1523G>T c.3917G>T (n.3917G>T) c.10300G>T (p.Val3434Phe) n.4229G>T c.10429G>T (p.Val3477Phe) | |
2 | g.73572303_73572304delinsGT | CA1261020838 | ALMS1 | c.10045_10046delinsGT (p.Val3349=) c.3131_3132delinsGT c.7326_7327delinsGT c.4492_4493delinsGT (p.Val1498=) c.7371_7372delinsGT c.10426_10427delinsGT (p.Val3476=) c.580_581delinsGT (p.Val194=) c.1782_1783delinsGT c.1523_1524delinsGT c.3917_3918delinsGT (n.3917_3918delinsGT) c.10300_10301delinsGT (p.Val3434=) n.4229_4230delinsGT c.10429_10430delinsGT (p.Val3477=) | |
2 | g.73572304del | CA1139657122 | ALMS1 | c.10046del (p.Val3349AlafsTer?) c.3132del c.7327del c.4493del (p.Val1498AlafsTer?) c.7372del c.10427del (p.Val3476AlafsTer?) c.581del (p.Val194AlafsTer?) c.1783del c.1524del c.3918del (n.3918del) c.10301del (p.Val3434AlafsTer?) n.4230del c.10430del (p.Val3477AlafsTer?) | ClinVar dbSNP |
2 | g.73572304T>A | CA347282784 | ALMS1 | c.10046T>A (p.Val3349Asp) c.3132T>A c.7327T>A c.4493T>A (p.Val1498Asp) c.7372T>A c.10427T>A (p.Val3476Asp) c.581T>A (p.Val194Asp) c.1783T>A c.1524T>A c.3918T>A (n.3918T>A) c.10301T>A (p.Val3434Asp) n.4230T>A c.10430T>A (p.Val3477Asp) | gnomAD v4 |
2 | g.73572304T>C | CA50386125 | ALMS1 | c.10046T>C (p.Val3349Ala) c.3132T>C c.7327T>C c.4493T>C (p.Val1498Ala) c.7372T>C c.10427T>C (p.Val3476Ala) c.581T>C (p.Val194Ala) c.1783T>C c.1524T>C c.3918T>C (n.3918T>C) c.10301T>C (p.Val3434Ala) n.4230T>C c.10430T>C (p.Val3477Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572304T>G | CA1715003 | ALMS1 | c.10046T>G (p.Val3349Gly) c.3132T>G c.7327T>G c.4493T>G (p.Val1498Gly) c.7372T>G c.10427T>G (p.Val3476Gly) c.581T>G (p.Val194Gly) c.1783T>G c.1524T>G c.3918T>G (n.3918T>G) c.10301T>G (p.Val3434Gly) n.4230T>G c.10430T>G (p.Val3477Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572304T= | CA1261020850 | ALMS1 | c.10046T= (p.Val3349=) c.3132T= c.7327T= c.4493T= (p.Val1498=) c.7372T= c.10427T= (p.Val3476=) c.581T= (p.Val194=) c.1783T= c.1524T= c.3918T= (n.3918T=) c.10301T= (p.Val3434=) n.4230T= c.10430T= (p.Val3477=) | |
2 | g.73572305C>A | CA427024281 | ALMS1 | c.10047C>A (p.Val3349=) c.3133C>A c.7328C>A c.4494C>A (p.Val1498=) c.7373C>A c.10428C>A (p.Val3476=) c.582C>A (p.Val194=) c.1784C>A c.1525C>A c.3919C>A (n.3919C>A) c.10302C>A (p.Val3434=) n.4231C>A c.10431C>A (p.Val3477=) | |
2 | g.73572305C>G | CA427024283 | ALMS1 | c.10047C>G (p.Val3349=) c.3133C>G c.7328C>G c.4494C>G (p.Val1498=) c.7373C>G c.10428C>G (p.Val3476=) c.582C>G (p.Val194=) c.1784C>G c.1525C>G c.3919C>G (n.3919C>G) c.10302C>G (p.Val3434=) n.4231C>G c.10431C>G (p.Val3477=) | |
2 | g.73572305C>T | CA427024286 | ALMS1 | c.10047C>T (p.Val3349=) c.3133C>T c.7328C>T c.4494C>T (p.Val1498=) c.7373C>T c.10428C>T (p.Val3476=) c.582C>T (p.Val194=) c.1784C>T c.1525C>T c.3919C>T (n.3919C>T) c.10302C>T (p.Val3434=) n.4231C>T c.10431C>T (p.Val3477=) | |
2 | g.73572306T>A | CA347282790 | ALMS1 | c.10048T>A (p.Phe3350Ile) c.3134T>A c.7329T>A c.4495T>A (p.Phe1499Ile) c.7374T>A c.10429T>A (p.Phe3477Ile) c.583T>A (p.Phe195Ile) c.1785T>A c.1526T>A c.3920T>A (n.3920T>A) c.10303T>A (p.Phe3435Ile) n.4232T>A c.10432T>A (p.Phe3478Ile) | |
2 | g.73572306T>C | CA347282793 | ALMS1 | c.10048T>C (p.Phe3350Leu) c.3134T>C c.7329T>C c.4495T>C (p.Phe1499Leu) c.7374T>C c.10429T>C (p.Phe3477Leu) c.583T>C (p.Phe195Leu) c.1785T>C c.1526T>C c.3920T>C (n.3920T>C) c.10303T>C (p.Phe3435Leu) n.4232T>C c.10432T>C (p.Phe3478Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73572306T>G | CA347282796 | ALMS1 | c.10048T>G (p.Phe3350Val) c.3134T>G c.7329T>G c.4495T>G (p.Phe1499Val) c.7374T>G c.10429T>G (p.Phe3477Val) c.583T>G (p.Phe195Val) c.1785T>G c.1526T>G c.3920T>G (n.3920T>G) c.10303T>G (p.Phe3435Val) n.4232T>G c.10432T>G (p.Phe3478Val) | |
2 | g.73572306T= | CA1261020856 | ALMS1 | c.10048T= (p.Phe3350=) c.3134T= c.7329T= c.4495T= (p.Phe1499=) c.7374T= c.10429T= (p.Phe3477=) c.583T= (p.Phe195=) c.1785T= c.1526T= c.3920T= (n.3920T=) c.10303T= (p.Phe3435=) n.4232T= c.10432T= (p.Phe3478=) | |
2 | g.73572307T>A | CA347282799 | ALMS1 | c.10049T>A (p.Phe3350Tyr) c.3135T>A c.7330T>A c.4496T>A (p.Phe1499Tyr) c.7375T>A c.10430T>A (p.Phe3477Tyr) c.584T>A (p.Phe195Tyr) c.1786T>A c.1527T>A c.3921T>A (n.3921T>A) c.10304T>A (p.Phe3435Tyr) n.4233T>A c.10433T>A (p.Phe3478Tyr) | |
2 | g.73572307T>C | CA347282802 | ALMS1 | c.10049T>C (p.Phe3350Ser) c.3135T>C c.7330T>C c.4496T>C (p.Phe1499Ser) c.7375T>C c.10430T>C (p.Phe3477Ser) c.584T>C (p.Phe195Ser) c.1786T>C c.1527T>C c.3921T>C (n.3921T>C) c.10304T>C (p.Phe3435Ser) n.4233T>C c.10433T>C (p.Phe3478Ser) | |
2 | g.73572307T>G | CA347282803 | ALMS1 | c.10049T>G (p.Phe3350Cys) c.3135T>G c.7330T>G c.4496T>G (p.Phe1499Cys) c.7375T>G c.10430T>G (p.Phe3477Cys) c.584T>G (p.Phe195Cys) c.1786T>G c.1527T>G c.3921T>G (n.3921T>G) c.10304T>G (p.Phe3435Cys) n.4233T>G c.10433T>G (p.Phe3478Cys) | |
2 | g.73572308C>A | CA347282808 | ALMS1 | c.10050C>A (p.Phe3350Leu) c.3136C>A c.7331C>A c.4497C>A (p.Phe1499Leu) c.7376C>A c.10431C>A (p.Phe3477Leu) c.585C>A (p.Phe195Leu) c.1787C>A c.1528C>A c.3922C>A (n.3922C>A) c.10305C>A (p.Phe3435Leu) n.4234C>A c.10434C>A (p.Phe3478Leu) | |
2 | g.73572308C>G | CA347282806 | ALMS1 | c.10050C>G (p.Phe3350Leu) c.3136C>G c.7331C>G c.4497C>G (p.Phe1499Leu) c.7376C>G c.10431C>G (p.Phe3477Leu) c.585C>G (p.Phe195Leu) c.1787C>G c.1528C>G c.3922C>G (n.3922C>G) c.10305C>G (p.Phe3435Leu) n.4234C>G c.10434C>G (p.Phe3478Leu) | |
2 | g.73572308C>T | CA427024291 | ALMS1 | c.10050C>T (p.Phe3350=) c.3136C>T c.7331C>T c.4497C>T (p.Phe1499=) c.7376C>T c.10431C>T (p.Phe3477=) c.585C>T (p.Phe195=) c.1787C>T c.1528C>T c.3922C>T (n.3922C>T) c.10305C>T (p.Phe3435=) n.4234C>T c.10434C>T (p.Phe3478=) | |
2 | g.73572309A>C | CA427024292 | ALMS1 | c.10051A>C (p.Arg3351=) c.3137A>C c.7332A>C c.4498A>C (p.Arg1500=) c.7377A>C c.10432A>C (p.Arg3478=) c.586A>C (p.Arg196=) c.1788A>C c.1529A>C c.3923A>C (n.3923A>C) c.10306A>C (p.Arg3436=) n.4235A>C c.10435A>C (p.Arg3479=) | gnomAD v4 |
2 | g.73572309A>G | CA347282812 | ALMS1 | c.10051A>G (p.Arg3351Gly) c.3137A>G c.7332A>G c.4498A>G (p.Arg1500Gly) c.7377A>G c.10432A>G (p.Arg3478Gly) c.586A>G (p.Arg196Gly) c.1788A>G c.1529A>G c.3923A>G (n.3923A>G) c.10306A>G (p.Arg3436Gly) n.4235A>G c.10435A>G (p.Arg3479Gly) | |
2 | g.73572309A>T | CA347282814 | ALMS1 | c.10051A>T (p.Arg3351Trp) c.3137A>T c.7332A>T c.4498A>T (p.Arg1500Trp) c.7377A>T c.10432A>T (p.Arg3478Trp) c.586A>T (p.Arg196Trp) c.1788A>T c.1529A>T c.3923A>T (n.3923A>T) c.10306A>T (p.Arg3436Trp) n.4235A>T c.10435A>T (p.Arg3479Trp) | |
2 | g.73572310G>A | CA50386134 | ALMS1 | c.10052G>A (p.Arg3351Lys) c.3138G>A c.7333G>A c.4499G>A (p.Arg1500Lys) c.7378G>A c.10433G>A (p.Arg3478Lys) c.587G>A (p.Arg196Lys) c.1789G>A c.1530G>A c.3924G>A (n.3924G>A) c.10307G>A (p.Arg3436Lys) n.4236G>A c.10436G>A (p.Arg3479Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572310G>C | CA347282819 | ALMS1 | c.10052G>C (p.Arg3351Thr) c.3138G>C c.7333G>C c.4499G>C (p.Arg1500Thr) c.7378G>C c.10433G>C (p.Arg3478Thr) c.587G>C (p.Arg196Thr) c.1789G>C c.1530G>C c.3924G>C (n.3924G>C) c.10307G>C (p.Arg3436Thr) n.4236G>C c.10436G>C (p.Arg3479Thr) | |
2 | g.73572310G= | CA1261020865 | ALMS1 | c.10052G= (p.Arg3351=) c.3138G= c.7333G= c.4499G= (p.Arg1500=) c.7378G= c.10433G= (p.Arg3478=) c.587G= (p.Arg196=) c.1789G= c.1530G= c.3924G= (n.3924G=) c.10307G= (p.Arg3436=) n.4236G= c.10436G= (p.Arg3479=) | |
2 | g.73572310G>T | CA347282821 | ALMS1 | c.10052G>T (p.Arg3351Met) c.3138G>T c.7333G>T c.4499G>T (p.Arg1500Met) c.7378G>T c.10433G>T (p.Arg3478Met) c.587G>T (p.Arg196Met) c.1789G>T c.1530G>T c.3924G>T (n.3924G>T) c.10307G>T (p.Arg3436Met) n.4236G>T c.10436G>T (p.Arg3479Met) | |
2 | g.73572311G>A | CA427024297 | ALMS1 | c.10053G>A (p.Arg3351=) c.3139G>A c.7334G>A c.4500G>A (p.Arg1500=) c.7379G>A c.10434G>A (p.Arg3478=) c.588G>A (p.Arg196=) c.1790G>A c.1531G>A c.3925G>A (n.3925G>A) c.10308G>A (p.Arg3436=) n.4237G>A c.10437G>A (p.Arg3479=) | |
2 | g.73572311G>C | CA347282825 | ALMS1 | c.10053G>C (p.Arg3351Ser) c.3139G>C c.7334G>C c.4500G>C (p.Arg1500Ser) c.7379G>C c.10434G>C (p.Arg3478Ser) c.588G>C (p.Arg196Ser) c.1790G>C c.1531G>C c.3925G>C (n.3925G>C) c.10308G>C (p.Arg3436Ser) n.4237G>C c.10437G>C (p.Arg3479Ser) | |
2 | g.73572311G>T | CA347282827 | ALMS1 | c.10053G>T (p.Arg3351Ser) c.3139G>T c.7334G>T c.4500G>T (p.Arg1500Ser) c.7379G>T c.10434G>T (p.Arg3478Ser) c.588G>T (p.Arg196Ser) c.1790G>T c.1531G>T c.3925G>T (n.3925G>T) c.10308G>T (p.Arg3436Ser) n.4237G>T c.10437G>T (p.Arg3479Ser) | |
2 | g.73572312T>A | CA347282830 | ALMS1 | c.10054T>A (p.Ser3352Thr) c.3140T>A c.7335T>A c.4501T>A (p.Ser1501Thr) c.7380T>A c.10435T>A (p.Ser3479Thr) c.589T>A (p.Ser197Thr) c.1791T>A c.1532T>A c.3926T>A (n.3926T>A) c.10309T>A (p.Ser3437Thr) n.4238T>A c.10438T>A (p.Ser3480Thr) | |
2 | g.73572312T>C | CA347282833 | ALMS1 | c.10054T>C (p.Ser3352Pro) c.3140T>C c.7335T>C c.4501T>C (p.Ser1501Pro) c.7380T>C c.10435T>C (p.Ser3479Pro) c.589T>C (p.Ser197Pro) c.1791T>C c.1532T>C c.3926T>C (n.3926T>C) c.10309T>C (p.Ser3437Pro) n.4238T>C c.10438T>C (p.Ser3480Pro) | |
2 | g.73572312T>G | CA347282835 | ALMS1 | c.10054T>G (p.Ser3352Ala) c.3140T>G c.7335T>G c.4501T>G (p.Ser1501Ala) c.7380T>G c.10435T>G (p.Ser3479Ala) c.589T>G (p.Ser197Ala) c.1791T>G c.1532T>G c.3926T>G (n.3926T>G) c.10309T>G (p.Ser3437Ala) n.4238T>G c.10438T>G (p.Ser3480Ala) | gnomAD v4 |
2 | g.73572313C>A | CA347282836 | ALMS1 | c.10055C>A (p.Ser3352Ter) c.3141C>A c.7336C>A c.4502C>A (p.Ser1501Ter) c.7381C>A c.10436C>A (p.Ser3479Ter) c.590C>A (p.Ser197Ter) c.1792C>A c.1533C>A c.3927C>A (n.3927C>A) c.10310C>A (p.Ser3437Ter) n.4239C>A c.10439C>A (p.Ser3480Ter) | gnomAD v4 |
2 | g.73572313C>G | CA347282838 | ALMS1 | c.10055C>G (p.Ser3352Ter) c.3141C>G c.7336C>G c.4502C>G (p.Ser1501Ter) c.7381C>G c.10436C>G (p.Ser3479Ter) c.590C>G (p.Ser197Ter) c.1792C>G c.1533C>G c.3927C>G (n.3927C>G) c.10310C>G (p.Ser3437Ter) n.4239C>G c.10439C>G (p.Ser3480Ter) | gnomAD v4 |
2 | g.73572313C>T | CA347282841 | ALMS1 | c.10055C>T (p.Ser3352Leu) c.3141C>T c.7336C>T c.4502C>T (p.Ser1501Leu) c.7381C>T c.10436C>T (p.Ser3479Leu) c.590C>T (p.Ser197Leu) c.1792C>T c.1533C>T c.3927C>T (n.3927C>T) c.10310C>T (p.Ser3437Leu) n.4239C>T c.10439C>T (p.Ser3480Leu) | gnomAD v4 |
2 | g.73572313_73572316del | CA2695200830 | ALMS1 | c.10055_10058del (p.Ser3352Ter) c.3141_3144del c.7336_7339del c.4502_4505del (p.Ser1501Ter) c.7381_7384del c.10436_10439del (p.Ser3479Ter) c.590_593del (p.Ser197Ter) c.1792_1795del c.1533_1536del c.3927_3930del (n.3927_3930del) c.10310_10313del (p.Ser3437Ter) n.4239_4242del c.10439_10442del (p.Ser3480Ter) | ClinVar |
2 | g.73572314A>C | CA427024307 | ALMS1 | c.10056A>C (p.Ser3352=) c.3142A>C c.7337A>C c.4503A>C (p.Ser1501=) c.7382A>C c.10437A>C (p.Ser3479=) c.591A>C (p.Ser197=) c.1793A>C c.1534A>C c.3928A>C (n.3928A>C) c.10311A>C (p.Ser3437=) n.4240A>C c.10440A>C (p.Ser3480=) | gnomAD v4 |
2 | g.73572314A>G | CA427024309 | ALMS1 | c.10056A>G (p.Ser3352=) c.3142A>G c.7337A>G c.4503A>G (p.Ser1501=) c.7382A>G c.10437A>G (p.Ser3479=) c.591A>G (p.Ser197=) c.1793A>G c.1534A>G c.3928A>G (n.3928A>G) c.10311A>G (p.Ser3437=) n.4240A>G c.10440A>G (p.Ser3480=) | |
2 | g.73572314A>T | CA427024310 | ALMS1 | c.10056A>T (p.Ser3352=) c.3142A>T c.7337A>T c.4503A>T (p.Ser1501=) c.7382A>T c.10437A>T (p.Ser3479=) c.591A>T (p.Ser197=) c.1793A>T c.1534A>T c.3928A>T (n.3928A>T) c.10311A>T (p.Ser3437=) n.4240A>T c.10440A>T (p.Ser3480=) | |
2 | g.73572315G>A | CA1715004 | ALMS1 | c.10057G>A (p.Ala3353Thr) c.3143G>A c.7338G>A c.4504G>A (p.Ala1502Thr) c.7383G>A c.10438G>A (p.Ala3480Thr) c.592G>A (p.Ala198Thr) c.1794G>A c.1535G>A c.3929G>A (n.3929G>A) c.10312G>A (p.Ala3438Thr) n.4241G>A c.10441G>A (p.Ala3481Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73572315G>C | CA347282845 | ALMS1 | c.10057G>C (p.Ala3353Pro) c.3143G>C c.7338G>C c.4504G>C (p.Ala1502Pro) c.7383G>C c.10438G>C (p.Ala3480Pro) c.592G>C (p.Ala198Pro) c.1794G>C c.1535G>C c.3929G>C (n.3929G>C) c.10312G>C (p.Ala3438Pro) n.4241G>C c.10441G>C (p.Ala3481Pro) | |
2 | g.73572315G= | CA1261020869 | ALMS1 | c.10057G= (p.Ala3353=) c.3143G= c.7338G= c.4504G= (p.Ala1502=) c.7383G= c.10438G= (p.Ala3480=) c.592G= (p.Ala198=) c.1794G= c.1535G= c.3929G= (n.3929G=) c.10312G= (p.Ala3438=) n.4241G= c.10441G= (p.Ala3481=) | |
2 | g.73572315G>T | CA347282847 | ALMS1 | c.10057G>T (p.Ala3353Ser) c.3143G>T c.7338G>T c.4504G>T (p.Ala1502Ser) c.7383G>T c.10438G>T (p.Ala3480Ser) c.592G>T (p.Ala198Ser) c.1794G>T c.1535G>T c.3929G>T (n.3929G>T) c.10312G>T (p.Ala3438Ser) n.4241G>T c.10441G>T (p.Ala3481Ser) | |
2 | g.73572316C>A | CA347282852 | ALMS1 | c.10058C>A (p.Ala3353Glu) c.3144C>A c.7339C>A c.4505C>A (p.Ala1502Glu) c.7384C>A c.10439C>A (p.Ala3480Glu) c.593C>A (p.Ala198Glu) c.1795C>A c.1536C>A c.3930C>A (n.3930C>A) c.10313C>A (p.Ala3438Glu) n.4242C>A c.10442C>A (p.Ala3481Glu) | |
2 | g.73572316C>G | CA347282854 | ALMS1 | c.10058C>G (p.Ala3353Gly) c.3144C>G c.7339C>G c.4505C>G (p.Ala1502Gly) c.7384C>G c.10439C>G (p.Ala3480Gly) c.593C>G (p.Ala198Gly) c.1795C>G c.1536C>G c.3930C>G (n.3930C>G) c.10313C>G (p.Ala3438Gly) n.4242C>G c.10442C>G (p.Ala3481Gly) | gnomAD v4 |
2 | g.73572316C>T | CA347282856 | ALMS1 | c.10058C>T (p.Ala3353Val) c.3144C>T c.7339C>T c.4505C>T (p.Ala1502Val) c.7384C>T c.10439C>T (p.Ala3480Val) c.593C>T (p.Ala198Val) c.1795C>T c.1536C>T c.3930C>T (n.3930C>T) c.10313C>T (p.Ala3438Val) n.4242C>T c.10442C>T (p.Ala3481Val) | |
2 | g.73572317A= | CA1261020873 | ALMS1 | c.10059A= (p.Ala3353=) c.3145A= c.7340A= c.4506A= (p.Ala1502=) c.7385A= c.10440A= (p.Ala3480=) c.594A= (p.Ala198=) c.1796A= c.1537A= c.3931A= (n.3931A=) c.10314A= (p.Ala3438=) n.4243A= c.10443A= (p.Ala3481=) | |
2 | g.73572317A>C | CA427024315 | ALMS1 | c.10059A>C (p.Ala3353=) c.3145A>C c.7340A>C c.4506A>C (p.Ala1502=) c.7385A>C c.10440A>C (p.Ala3480=) c.594A>C (p.Ala198=) c.1796A>C c.1537A>C c.3931A>C (n.3931A>C) c.10314A>C (p.Ala3438=) n.4243A>C c.10443A>C (p.Ala3481=) | gnomAD v4 |
2 | g.73572317A>G | CA50386146 | ALMS1 | c.10059A>G (p.Ala3353=) c.3145A>G c.7340A>G c.4506A>G (p.Ala1502=) c.7385A>G c.10440A>G (p.Ala3480=) c.594A>G (p.Ala198=) c.1796A>G c.1537A>G c.3931A>G (n.3931A>G) c.10314A>G (p.Ala3438=) n.4243A>G c.10443A>G (p.Ala3481=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572317A>T | CA427024316 | ALMS1 | c.10059A>T (p.Ala3353=) c.3145A>T c.7340A>T c.4506A>T (p.Ala1502=) c.7385A>T c.10440A>T (p.Ala3480=) c.594A>T (p.Ala198=) c.1796A>T c.1537A>T c.3931A>T (n.3931A>T) c.10314A>T (p.Ala3438=) n.4243A>T c.10443A>T (p.Ala3481=) | dbSNP gnomAD v4 |
2 | g.73572318A= | CA1261020876 | ALMS1 | c.10060A= (p.Lys3354=) c.3146A= c.7341A= c.4507A= (p.Lys1503=) c.7386A= c.10441A= (p.Lys3481=) c.595A= (p.Lys199=) c.1797A= c.1538A= c.3932A= (n.3932A=) c.10315A= (p.Lys3439=) n.4244A= c.10444A= (p.Lys3482=) | |
2 | g.73572318A>C | CA347282863 | ALMS1 | c.10060A>C (p.Lys3354Gln) c.3146A>C c.7341A>C c.4507A>C (p.Lys1503Gln) c.7386A>C c.10441A>C (p.Lys3481Gln) c.595A>C (p.Lys199Gln) c.1797A>C c.1538A>C c.3932A>C (n.3932A>C) c.10315A>C (p.Lys3439Gln) n.4244A>C c.10444A>C (p.Lys3482Gln) | |
2 | g.73572318A>G | CA1715005 | ALMS1 | c.10060A>G (p.Lys3354Glu) c.3146A>G c.7341A>G c.4507A>G (p.Lys1503Glu) c.7386A>G c.10441A>G (p.Lys3481Glu) c.595A>G (p.Lys199Glu) c.1797A>G c.1538A>G c.3932A>G (n.3932A>G) c.10315A>G (p.Lys3439Glu) n.4244A>G c.10444A>G (p.Lys3482Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572318A>T | CA347282868 | ALMS1 | c.10060A>T (p.Lys3354Ter) c.3146A>T c.7341A>T c.4507A>T (p.Lys1503Ter) c.7386A>T c.10441A>T (p.Lys3481Ter) c.595A>T (p.Lys199Ter) c.1797A>T c.1538A>T c.3932A>T (n.3932A>T) c.10315A>T (p.Lys3439Ter) n.4244A>T c.10444A>T (p.Lys3482Ter) | |
2 | g.73572319A>C | CA347282871 | ALMS1 | c.10061A>C (p.Lys3354Thr) c.3147A>C c.7342A>C c.4508A>C (p.Lys1503Thr) c.7387A>C c.10442A>C (p.Lys3481Thr) c.596A>C (p.Lys199Thr) c.1798A>C c.1539A>C c.3933A>C (n.3933A>C) c.10316A>C (p.Lys3439Thr) n.4245A>C c.10445A>C (p.Lys3482Thr) | |
2 | g.73572319A>G | CA347282872 | ALMS1 | c.10061A>G (p.Lys3354Arg) c.3147A>G c.7342A>G c.4508A>G (p.Lys1503Arg) c.7387A>G c.10442A>G (p.Lys3481Arg) c.596A>G (p.Lys199Arg) c.1798A>G c.1539A>G c.3933A>G (n.3933A>G) c.10316A>G (p.Lys3439Arg) n.4245A>G c.10445A>G (p.Lys3482Arg) | |
2 | g.73572319A>T | CA347282874 | ALMS1 | c.10061A>T (p.Lys3354Met) c.3147A>T c.7342A>T c.4508A>T (p.Lys1503Met) c.7387A>T c.10442A>T (p.Lys3481Met) c.596A>T (p.Lys199Met) c.1798A>T c.1539A>T c.3933A>T (n.3933A>T) c.10316A>T (p.Lys3439Met) n.4245A>T c.10445A>T (p.Lys3482Met) | |
2 | g.73572320G>A | CA427024323 | ALMS1 | c.10062G>A (p.Lys3354=) c.3148G>A c.7343G>A c.4509G>A (p.Lys1503=) c.7388G>A c.10443G>A (p.Lys3481=) c.597G>A (p.Lys199=) c.1799G>A c.1540G>A c.3934G>A (n.3934G>A) c.10317G>A (p.Lys3439=) n.4246G>A c.10446G>A (p.Lys3482=) | ClinVar gnomAD v4 |
2 | g.73572320G>C | CA1715006 | ALMS1 | c.10062G>C (p.Lys3354Asn) c.3148G>C c.7343G>C c.4509G>C (p.Lys1503Asn) c.7388G>C c.10443G>C (p.Lys3481Asn) c.597G>C (p.Lys199Asn) c.1799G>C c.1540G>C c.3934G>C (n.3934G>C) c.10317G>C (p.Lys3439Asn) n.4246G>C c.10446G>C (p.Lys3482Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73572320G= | CA1261020881 | ALMS1 | c.10062G= (p.Lys3354=) c.3148G= c.7343G= c.4509G= (p.Lys1503=) c.7388G= c.10443G= (p.Lys3481=) c.597G= (p.Lys199=) c.1799G= c.1540G= c.3934G= (n.3934G=) c.10317G= (p.Lys3439=) n.4246G= c.10446G= (p.Lys3482=) | |
2 | g.73572320G>T | CA347282880 | ALMS1 | c.10062G>T (p.Lys3354Asn) c.3148G>T c.7343G>T c.4509G>T (p.Lys1503Asn) c.7388G>T c.10443G>T (p.Lys3481Asn) c.597G>T (p.Lys199Asn) c.1799G>T c.1540G>T c.3934G>T (n.3934G>T) c.10317G>T (p.Lys3439Asn) n.4246G>T c.10446G>T (p.Lys3482Asn) | |
2 | g.73572321T>A | CA347282884 | ALMS1 | c.10063T>A (p.Phe3355Ile) c.3149T>A c.7344T>A c.4510T>A (p.Phe1504Ile) c.7389T>A c.10444T>A (p.Phe3482Ile) c.598T>A (p.Phe200Ile) c.1800T>A c.1541T>A c.3935T>A (n.3935T>A) c.10318T>A (p.Phe3440Ile) n.4247T>A c.10447T>A (p.Phe3483Ile) | |
2 | g.73572321T>C | CA347282886 | ALMS1 | c.10063T>C (p.Phe3355Leu) c.3149T>C c.7344T>C c.4510T>C (p.Phe1504Leu) c.7389T>C c.10444T>C (p.Phe3482Leu) c.598T>C (p.Phe200Leu) c.1800T>C c.1541T>C c.3935T>C (n.3935T>C) c.10318T>C (p.Phe3440Leu) n.4247T>C c.10447T>C (p.Phe3483Leu) | |
2 | g.73572321T>G | CA347282885 | ALMS1 | c.10063T>G (p.Phe3355Val) c.3149T>G c.7344T>G c.4510T>G (p.Phe1504Val) c.7389T>G c.10444T>G (p.Phe3482Val) c.598T>G (p.Phe200Val) c.1800T>G c.1541T>G c.3935T>G (n.3935T>G) c.10318T>G (p.Phe3440Val) n.4247T>G c.10447T>G (p.Phe3483Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73572321T= | CA1261020885 | ALMS1 | c.10063T= (p.Phe3355=) c.3149T= c.7344T= c.4510T= (p.Phe1504=) c.7389T= c.10444T= (p.Phe3482=) c.598T= (p.Phe200=) c.1800T= c.1541T= c.3935T= (n.3935T=) c.10318T= (p.Phe3440=) n.4247T= c.10447T= (p.Phe3483=) | |
2 | g.73572322T>A | CA347282890 | ALMS1 | c.10064T>A (p.Phe3355Tyr) c.3150T>A c.7345T>A c.4511T>A (p.Phe1504Tyr) c.7390T>A c.10445T>A (p.Phe3482Tyr) c.599T>A (p.Phe200Tyr) c.1801T>A c.1542T>A c.3936T>A (n.3936T>A) c.10319T>A (p.Phe3440Tyr) n.4248T>A c.10448T>A (p.Phe3483Tyr) | |
2 | g.73572322T>C | CA347282895 | ALMS1 | c.10064T>C (p.Phe3355Ser) c.3150T>C c.7345T>C c.4511T>C (p.Phe1504Ser) c.7390T>C c.10445T>C (p.Phe3482Ser) c.599T>C (p.Phe200Ser) c.1801T>C c.1542T>C c.3936T>C (n.3936T>C) c.10319T>C (p.Phe3440Ser) n.4248T>C c.10448T>C (p.Phe3483Ser) | |
2 | g.73572322T>G | CA347282892 | ALMS1 | c.10064T>G (p.Phe3355Cys) c.3150T>G c.7345T>G c.4511T>G (p.Phe1504Cys) c.7390T>G c.10445T>G (p.Phe3482Cys) c.599T>G (p.Phe200Cys) c.1801T>G c.1542T>G c.3936T>G (n.3936T>G) c.10319T>G (p.Phe3440Cys) n.4248T>G c.10448T>G (p.Phe3483Cys) | |
2 | g.73572323T>A | CA347282899 | ALMS1 | c.10065T>A (p.Phe3355Leu) c.3151T>A c.7346T>A c.4512T>A (p.Phe1504Leu) c.7391T>A c.10446T>A (p.Phe3482Leu) c.600T>A (p.Phe200Leu) c.1802T>A c.1543T>A c.3937T>A (n.3937T>A) c.10320T>A (p.Phe3440Leu) n.4249T>A c.10449T>A (p.Phe3483Leu) | |
2 | g.73572323T>C | CA427024330 | ALMS1 | c.10065T>C (p.Phe3355=) c.3151T>C c.7346T>C c.4512T>C (p.Phe1504=) c.7391T>C c.10446T>C (p.Phe3482=) c.600T>C (p.Phe200=) c.1802T>C c.1543T>C c.3937T>C (n.3937T>C) c.10320T>C (p.Phe3440=) n.4249T>C c.10449T>C (p.Phe3483=) | |
2 | g.73572323T>G | CA347282900 | ALMS1 | c.10065T>G (p.Phe3355Leu) c.3151T>G c.7346T>G c.4512T>G (p.Phe1504Leu) c.7391T>G c.10446T>G (p.Phe3482Leu) c.600T>G (p.Phe200Leu) c.1802T>G c.1543T>G c.3937T>G (n.3937T>G) c.10320T>G (p.Phe3440Leu) n.4249T>G c.10449T>G (p.Phe3483Leu) | |
2 | g.73572323_73572327delinsTTACA | CA1261020890 | ALMS1 | c.10065_10069delinsTTACA (p.Phe3355=) c.3151_3155delinsTTACA c.7346_7350delinsTTACA c.4512_4516delinsTTACA (p.Phe1504=) c.7391_7395delinsTTACA c.10446_10450delinsTTACA (p.Phe3482=) c.600_604delinsTTACA (p.Phe200=) c.1802_1806delinsTTACA c.1543_1547delinsTTACA c.3937_3941delinsTTACA (n.3937_3941delinsTTACA) c.10320_10324delinsTTACA (p.Phe3440=) n.4249_4253delinsTTACA c.10449_10453delinsTTACA (p.Phe3483=) | |
2 | g.73572324T>A | CA347282904 | ALMS1 | c.10066T>A (p.Tyr3356Asn) c.3152T>A c.7347T>A c.4513T>A (p.Tyr1505Asn) c.7392T>A c.10447T>A (p.Tyr3483Asn) c.601T>A (p.Tyr201Asn) c.1803T>A c.1544T>A c.3938T>A (n.3938T>A) c.10321T>A (p.Tyr3441Asn) n.4250T>A c.10450T>A (p.Tyr3484Asn) | |
2 | g.73572324T>C | CA347282906 | ALMS1 | c.10066T>C (p.Tyr3356His) c.3152T>C c.7347T>C c.4513T>C (p.Tyr1505His) c.7392T>C c.10447T>C (p.Tyr3483His) c.601T>C (p.Tyr201His) c.1803T>C c.1544T>C c.3938T>C (n.3938T>C) c.10321T>C (p.Tyr3441His) n.4250T>C c.10450T>C (p.Tyr3484His) | |
2 | g.73572324T>G | CA347282908 | ALMS1 | c.10066T>G (p.Tyr3356Asp) c.3152T>G c.7347T>G c.4513T>G (p.Tyr1505Asp) c.7392T>G c.10447T>G (p.Tyr3483Asp) c.601T>G (p.Tyr201Asp) c.1803T>G c.1544T>G c.3938T>G (n.3938T>G) c.10321T>G (p.Tyr3441Asp) n.4250T>G c.10450T>G (p.Tyr3484Asp) | |
2 | g.73572325_73572328del | CA534124486 | ALMS1 | c.10067_10070del (p.Tyr3356PhefsTer24) c.3153_3156del c.7348_7351del c.4514_4517del (p.Tyr1505PhefsTer24) c.7393_7396del c.10448_10451del (p.Tyr3483PhefsTer24) c.602_605del (p.Tyr201PhefsTer24) c.1804_1807del c.1545_1548del c.3939_3942del (n.3939_3942del) c.10322_10325del (p.Tyr3441PhefsTer24) n.4251_4254del c.10451_10454del (p.Tyr3484PhefsTer24) | dbSNP gnomAD v2 |
2 | g.73572325A>C | CA347282914 | ALMS1 | c.10067A>C (p.Tyr3356Ser) c.3153A>C c.7348A>C c.4514A>C (p.Tyr1505Ser) c.7393A>C c.10448A>C (p.Tyr3483Ser) c.602A>C (p.Tyr201Ser) c.1804A>C c.1545A>C c.3939A>C (n.3939A>C) c.10322A>C (p.Tyr3441Ser) n.4251A>C c.10451A>C (p.Tyr3484Ser) | |
2 | g.73572325A>G | CA347282916 | ALMS1 | c.10067A>G (p.Tyr3356Cys) c.3153A>G c.7348A>G c.4514A>G (p.Tyr1505Cys) c.7393A>G c.10448A>G (p.Tyr3483Cys) c.602A>G (p.Tyr201Cys) c.1804A>G c.1545A>G c.3939A>G (n.3939A>G) c.10322A>G (p.Tyr3441Cys) n.4251A>G c.10451A>G (p.Tyr3484Cys) | ClinVar dbSNP gnomAD v4 |
2 | g.73572325A>T | CA347282918 | ALMS1 | c.10067A>T (p.Tyr3356Phe) c.3153A>T c.7348A>T c.4514A>T (p.Tyr1505Phe) c.7393A>T c.10448A>T (p.Tyr3483Phe) c.602A>T (p.Tyr201Phe) c.1804A>T c.1545A>T c.3939A>T (n.3939A>T) c.10322A>T (p.Tyr3441Phe) n.4251A>T c.10451A>T (p.Tyr3484Phe) | |
2 | g.73572326C>A | CA347282921 | ALMS1 | c.10068C>A (p.Tyr3356Ter) c.3154C>A c.7349C>A c.4515C>A (p.Tyr1505Ter) c.7394C>A c.10449C>A (p.Tyr3483Ter) c.603C>A (p.Tyr201Ter) c.1805C>A c.1546C>A c.3940C>A (n.3940C>A) c.10323C>A (p.Tyr3441Ter) n.4252C>A c.10452C>A (p.Tyr3484Ter) | |
2 | g.73572326C>G | CA347282923 | ALMS1 | c.10068C>G (p.Tyr3356Ter) c.3154C>G c.7349C>G c.4515C>G (p.Tyr1505Ter) c.7394C>G c.10449C>G (p.Tyr3483Ter) c.603C>G (p.Tyr201Ter) c.1805C>G c.1546C>G c.3940C>G (n.3940C>G) c.10323C>G (p.Tyr3441Ter) n.4252C>G c.10452C>G (p.Tyr3484Ter) | |
2 | g.73572326C>T | CA427024337 | ALMS1 | c.10068C>T (p.Tyr3356=) c.3154C>T c.7349C>T c.4515C>T (p.Tyr1505=) c.7394C>T c.10449C>T (p.Tyr3483=) c.603C>T (p.Tyr201=) c.1805C>T c.1546C>T c.3940C>T (n.3940C>T) c.10323C>T (p.Tyr3441=) n.4252C>T c.10452C>T (p.Tyr3484=) | gnomAD v4 |
2 | g.73572327A>C | CA347282926 | ALMS1 | c.10069A>C (p.Ile3357Leu) c.3155A>C c.7350A>C c.4516A>C (p.Ile1506Leu) c.7395A>C c.10450A>C (p.Ile3484Leu) c.604A>C (p.Ile202Leu) c.1806A>C c.1547A>C c.3941A>C (n.3941A>C) c.10324A>C (p.Ile3442Leu) n.4253A>C c.10453A>C (p.Ile3485Leu) | |
2 | g.73572327A>G | CA347282931 | ALMS1 | c.10069A>G (p.Ile3357Val) c.3155A>G c.7350A>G c.4516A>G (p.Ile1506Val) c.7395A>G c.10450A>G (p.Ile3484Val) c.604A>G (p.Ile202Val) c.1806A>G c.1547A>G c.3941A>G (n.3941A>G) c.10324A>G (p.Ile3442Val) n.4253A>G c.10453A>G (p.Ile3485Val) | |
2 | g.73572327A>T | CA347282929 | ALMS1 | c.10069A>T (p.Ile3357Phe) c.3155A>T c.7350A>T c.4516A>T (p.Ile1506Phe) c.7395A>T c.10450A>T (p.Ile3484Phe) c.604A>T (p.Ile202Phe) c.1806A>T c.1547A>T c.3941A>T (n.3941A>T) c.10324A>T (p.Ile3442Phe) n.4253A>T c.10453A>T (p.Ile3485Phe) |