Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.73600960_73601189del | CA2750469773 | ALMS1 | c.11491+79_11492-6del (n.11491+79_11492-6del) c.11167-1225_11167-996del (n.11167-1225_11167-996del) c.4577+79_4578-6del c.8772+79_8773-6del c.5938+79_5939-6del (n.5938+79_5939-6del) c.8956+79_8957-6del c.11872+79_11873-6del (n.11872+79_11873-6del) c.2026+79_2027-6del (n.2026+79_2027-6del) c.3228+79_3229-6del c.1260+79_1260+308del c.3043+79_3044-6del n.47+79_48-6del c.11746+79_11747-6del (n.11746+79_11747-6del) n.5675+79_5676-6del c.11875+79_11876-6del (n.11875+79_11876-6del) | |
2 | g.73601175C= | CA1261033573 | ALMS1 | c.11492-20C= (n.11492-20C=) c.11167-1010C= (n.11167-1010C=) c.4578-20C= c.8773-20C= c.5939-20C= (n.5939-20C=) c.8957-20C= c.11873-20C= (n.11873-20C=) c.2027-20C= (n.2027-20C=) c.3229-20C= c.1260+294C= c.3044-20C= n.48-20C= c.11747-20C= (n.11747-20C=) n.5676-20C= c.11876-20C= (n.11876-20C=) | |
2 | g.73601175C>G | CA2659621085 | ALMS1 | c.11492-20C>G (n.11492-20C>G) c.11167-1010C>G (n.11167-1010C>G) c.4578-20C>G c.8773-20C>G c.5939-20C>G (n.5939-20C>G) c.8957-20C>G c.11873-20C>G (n.11873-20C>G) c.2027-20C>G (n.2027-20C>G) c.3229-20C>G c.1260+294C>G c.3044-20C>G n.48-20C>G c.11747-20C>G (n.11747-20C>G) n.5676-20C>G c.11876-20C>G (n.11876-20C>G) | gnomAD v4 |
2 | g.73601175C>T | CA1261033575 | ALMS1 | c.11492-20C>T (n.11492-20C>T) c.11167-1010C>T (n.11167-1010C>T) c.4578-20C>T c.8773-20C>T c.5939-20C>T (n.5939-20C>T) c.8957-20C>T c.11873-20C>T (n.11873-20C>T) c.2027-20C>T (n.2027-20C>T) c.3229-20C>T c.1260+294C>T c.3044-20C>T n.48-20C>T c.11747-20C>T (n.11747-20C>T) n.5676-20C>T c.11876-20C>T (n.11876-20C>T) | dbSNP |
2 | g.73601177A= | CA1261033577 | ALMS1 | c.11492-18A= (n.11492-18A=) c.11167-1008A= (n.11167-1008A=) c.4578-18A= c.8773-18A= c.5939-18A= (n.5939-18A=) c.8957-18A= c.11873-18A= (n.11873-18A=) c.2027-18A= (n.2027-18A=) c.3229-18A= c.1260+296A= c.3044-18A= n.48-18A= c.11747-18A= (n.11747-18A=) n.5676-18A= c.11876-18A= (n.11876-18A=) | |
2 | g.73601177A>G | CA534125783 | ALMS1 | c.11492-18A>G (n.11492-18A>G) c.11167-1008A>G (n.11167-1008A>G) c.4578-18A>G c.8773-18A>G c.5939-18A>G (n.5939-18A>G) c.8957-18A>G c.11873-18A>G (n.11873-18A>G) c.2027-18A>G (n.2027-18A>G) c.3229-18A>G c.1260+296A>G c.3044-18A>G n.48-18A>G c.11747-18A>G (n.11747-18A>G) n.5676-18A>G c.11876-18A>G (n.11876-18A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73601182C>A | CA50337219 | ALMS1 | c.11492-13C>A (n.11492-13C>A) c.11167-1003C>A (n.11167-1003C>A) c.4578-13C>A c.8773-13C>A c.5939-13C>A (n.5939-13C>A) c.8957-13C>A c.11873-13C>A (n.11873-13C>A) c.2027-13C>A (n.2027-13C>A) c.3229-13C>A c.1260+301C>A c.3044-13C>A n.48-13C>A c.11747-13C>A (n.11747-13C>A) n.5676-13C>A c.11876-13C>A (n.11876-13C>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73601182C= | CA1261033578 | ALMS1 | c.11492-13C= (n.11492-13C=) c.11167-1003C= (n.11167-1003C=) c.4578-13C= c.8773-13C= c.5939-13C= (n.5939-13C=) c.8957-13C= c.11873-13C= (n.11873-13C=) c.2027-13C= (n.2027-13C=) c.3229-13C= c.1260+301C= c.3044-13C= n.48-13C= c.11747-13C= (n.11747-13C=) n.5676-13C= c.11876-13C= (n.11876-13C=) | |
2 | g.73601182C>T | CA2577005280 | ALMS1 | c.11492-13C>T (n.11492-13C>T) c.11167-1003C>T (n.11167-1003C>T) c.4578-13C>T c.8773-13C>T c.5939-13C>T (n.5939-13C>T) c.8957-13C>T c.11873-13C>T (n.11873-13C>T) c.2027-13C>T (n.2027-13C>T) c.3229-13C>T c.1260+301C>T c.3044-13C>T n.48-13C>T c.11747-13C>T (n.11747-13C>T) n.5676-13C>T c.11876-13C>T (n.11876-13C>T) | |
2 | g.73601182_73601183delinsAC | CA2580068174 | ALMS1 | c.11492-13_11492-12delinsAC (n.11492-13_11492-12delinsAC) c.11167-1003_11167-1002delinsAC (n.11167-1003_11167-1002delinsAC) c.4578-13_4578-12delinsAC c.8773-13_8773-12delinsAC c.5939-13_5939-12delinsAC (n.5939-13_5939-12delinsAC) c.8957-13_8957-12delinsAC c.11873-13_11873-12delinsAC (n.11873-13_11873-12delinsAC) c.2027-13_2027-12delinsAC (n.2027-13_2027-12delinsAC) c.3229-13_3229-12delinsAC c.1260+301_1260+302delinsAC c.3044-13_3044-12delinsAC n.48-13_48-12delinsAC c.11747-13_11747-12delinsAC (n.11747-13_11747-12delinsAC) n.5676-13_5676-12delinsAC c.11876-13_11876-12delinsAC (n.11876-13_11876-12delinsAC) | ClinVar |
2 | g.73601183T>A | CA892842425 | ALMS1 | c.11492-12T>A (n.11492-12T>A) c.11167-1002T>A (n.11167-1002T>A) c.4578-12T>A c.8773-12T>A c.5939-12T>A (n.5939-12T>A) c.8957-12T>A c.11873-12T>A (n.11873-12T>A) c.2027-12T>A (n.2027-12T>A) c.3229-12T>A c.1260+302T>A c.3044-12T>A n.48-12T>A c.11747-12T>A (n.11747-12T>A) n.5676-12T>A c.11876-12T>A (n.11876-12T>A) | dbSNP |
2 | g.73601183T>C | CA1715363 | ALMS1 | c.11492-12T>C (n.11492-12T>C) c.11167-1002T>C (n.11167-1002T>C) c.4578-12T>C c.8773-12T>C c.5939-12T>C (n.5939-12T>C) c.8957-12T>C c.11873-12T>C (n.11873-12T>C) c.2027-12T>C (n.2027-12T>C) c.3229-12T>C c.1260+302T>C c.3044-12T>C n.48-12T>C c.11747-12T>C (n.11747-12T>C) n.5676-12T>C c.11876-12T>C (n.11876-12T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601183T>G | CA534125784 | ALMS1 | c.11492-12T>G (n.11492-12T>G) c.11167-1002T>G (n.11167-1002T>G) c.4578-12T>G c.8773-12T>G c.5939-12T>G (n.5939-12T>G) c.8957-12T>G c.11873-12T>G (n.11873-12T>G) c.2027-12T>G (n.2027-12T>G) c.3229-12T>G c.1260+302T>G c.3044-12T>G n.48-12T>G c.11747-12T>G (n.11747-12T>G) n.5676-12T>G c.11876-12T>G (n.11876-12T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73601183T= | CA1261033584 | ALMS1 | c.11492-12T= (n.11492-12T=) c.11167-1002T= (n.11167-1002T=) c.4578-12T= c.8773-12T= c.5939-12T= (n.5939-12T=) c.8957-12T= c.11873-12T= (n.11873-12T=) c.2027-12T= (n.2027-12T=) c.3229-12T= c.1260+302T= c.3044-12T= n.48-12T= c.11747-12T= (n.11747-12T=) n.5676-12T= c.11876-12T= (n.11876-12T=) | |
2 | g.73601183_73601184delinsCA | CA2573135817 | ALMS1 | c.11492-12_11492-11delinsCA (n.11492-12_11492-11delinsCA) c.11167-1002_11167-1001delinsCA (n.11167-1002_11167-1001delinsCA) c.4578-12_4578-11delinsCA c.8773-12_8773-11delinsCA c.5939-12_5939-11delinsCA (n.5939-12_5939-11delinsCA) c.8957-12_8957-11delinsCA c.11873-12_11873-11delinsCA (n.11873-12_11873-11delinsCA) c.2027-12_2027-11delinsCA (n.2027-12_2027-11delinsCA) c.3229-12_3229-11delinsCA c.1260+302_1260+303delinsCA c.3044-12_3044-11delinsCA n.48-12_48-11delinsCA c.11747-12_11747-11delinsCA (n.11747-12_11747-11delinsCA) n.5676-12_5676-11delinsCA c.11876-12_11876-11delinsCA (n.11876-12_11876-11delinsCA) | ClinVar |
2 | g.73601184G>A | CA1715364 | ALMS1 | c.11492-11G>A (n.11492-11G>A) c.11167-1001G>A (n.11167-1001G>A) c.4578-11G>A c.8773-11G>A c.5939-11G>A (n.5939-11G>A) c.8957-11G>A c.11873-11G>A (n.11873-11G>A) c.2027-11G>A (n.2027-11G>A) c.3229-11G>A c.1260+303G>A c.3044-11G>A n.48-11G>A c.11747-11G>A (n.11747-11G>A) n.5676-11G>A c.11876-11G>A (n.11876-11G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601184G= | CA1261033594 | ALMS1 | c.11492-11G= (n.11492-11G=) c.11167-1001G= (n.11167-1001G=) c.4578-11G= c.8773-11G= c.5939-11G= (n.5939-11G=) c.8957-11G= c.11873-11G= (n.11873-11G=) c.2027-11G= (n.2027-11G=) c.3229-11G= c.1260+303G= c.3044-11G= n.48-11G= c.11747-11G= (n.11747-11G=) n.5676-11G= c.11876-11G= (n.11876-11G=) | |
2 | g.73601184G>T | CA658822841 | ALMS1 | c.11492-11G>T (n.11492-11G>T) c.11167-1001G>T (n.11167-1001G>T) c.4578-11G>T c.8773-11G>T c.5939-11G>T (n.5939-11G>T) c.8957-11G>T c.11873-11G>T (n.11873-11G>T) c.2027-11G>T (n.2027-11G>T) c.3229-11G>T c.1260+303G>T c.3044-11G>T n.48-11G>T c.11747-11G>T (n.11747-11G>T) n.5676-11G>T c.11876-11G>T (n.11876-11G>T) | ClinVar dbSNP gnomAD v4 |
2 | g.73601192_73601204dup | CA2659621086 | ALMS1 | c.11492-3_11501dup c.11167-993_11167-981dup (n.11167-993_11167-981dup) c.4578-3_4587dup c.8773-3_8782dup c.5939-3_5948dup c.8957-3_8966dup c.11873-3_11882dup c.2027-3_2036dup c.3229-3_3238dup c.1260+311_1260+323dup c.3044-3_3053dup n.48-3_57dup c.11747-3_11756dup n.5676-3_5685dup c.11876-3_11885dup | gnomAD v4 |
2 | g.73601185T>A | CA50337222 | ALMS1 | c.11492-10T>A (n.11492-10T>A) c.11167-1000T>A (n.11167-1000T>A) c.4578-10T>A c.8773-10T>A c.5939-10T>A (n.5939-10T>A) c.8957-10T>A c.11873-10T>A (n.11873-10T>A) c.2027-10T>A (n.2027-10T>A) c.3229-10T>A c.1260+304T>A c.3044-10T>A n.48-10T>A c.11747-10T>A (n.11747-10T>A) n.5676-10T>A c.11876-10T>A (n.11876-10T>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73601185T= | CA1261033599 | ALMS1 | c.11492-10T= (n.11492-10T=) c.11167-1000T= (n.11167-1000T=) c.4578-10T= c.8773-10T= c.5939-10T= (n.5939-10T=) c.8957-10T= c.11873-10T= (n.11873-10T=) c.2027-10T= (n.2027-10T=) c.3229-10T= c.1260+304T= c.3044-10T= n.48-10T= c.11747-10T= (n.11747-10T=) n.5676-10T= c.11876-10T= (n.11876-10T=) | |
2 | g.73601187del | CA2659621087 | ALMS1 | c.11492-8del (n.11492-8del) c.11167-998del (n.11167-998del) c.4578-8del c.8773-8del c.5939-8del (n.5939-8del) c.8957-8del c.11873-8del (n.11873-8del) c.2027-8del (n.2027-8del) c.3229-8del c.1260+306del c.3044-8del n.48-8del c.11747-8del (n.11747-8del) n.5676-8del c.11876-8del (n.11876-8del) | gnomAD v4 |
2 | g.73601187T>G | CA2573135818 | ALMS1 | c.11492-8T>G (n.11492-8T>G) c.11167-998T>G (n.11167-998T>G) c.4578-8T>G c.8773-8T>G c.5939-8T>G (n.5939-8T>G) c.8957-8T>G c.11873-8T>G (n.11873-8T>G) c.2027-8T>G (n.2027-8T>G) c.3229-8T>G c.1260+306T>G c.3044-8T>G n.48-8T>G c.11747-8T>G (n.11747-8T>G) n.5676-8T>G c.11876-8T>G (n.11876-8T>G) | ClinVar dbSNP |
2 | g.73601188C>A | CA2659621088 | ALMS1 | c.11492-7C>A (n.11492-7C>A) c.11167-997C>A (n.11167-997C>A) c.4578-7C>A c.8773-7C>A c.5939-7C>A (n.5939-7C>A) c.8957-7C>A c.11873-7C>A (n.11873-7C>A) c.2027-7C>A (n.2027-7C>A) c.3229-7C>A c.1260+307C>A c.3044-7C>A n.48-7C>A c.11747-7C>A (n.11747-7C>A) n.5676-7C>A c.11876-7C>A (n.11876-7C>A) | gnomAD v4 |
2 | g.73601188C= | CA1261033604 | ALMS1 | c.11492-7C= (n.11492-7C=) c.11167-997C= (n.11167-997C=) c.4578-7C= c.8773-7C= c.5939-7C= (n.5939-7C=) c.8957-7C= c.11873-7C= (n.11873-7C=) c.2027-7C= (n.2027-7C=) c.3229-7C= c.1260+307C= c.3044-7C= n.48-7C= c.11747-7C= (n.11747-7C=) n.5676-7C= c.11876-7C= (n.11876-7C=) | |
2 | g.73601188C>T | CA658822842 | ALMS1 | c.11492-7C>T (n.11492-7C>T) c.11167-997C>T (n.11167-997C>T) c.4578-7C>T c.8773-7C>T c.5939-7C>T (n.5939-7C>T) c.8957-7C>T c.11873-7C>T (n.11873-7C>T) c.2027-7C>T (n.2027-7C>T) c.3229-7C>T c.1260+307C>T c.3044-7C>T n.48-7C>T c.11747-7C>T (n.11747-7C>T) n.5676-7C>T c.11876-7C>T (n.11876-7C>T) | ClinVar dbSNP gnomAD v4 |
2 | g.73601189C= | CA1261033610 | ALMS1 | c.11492-6C= (n.11492-6C=) c.11167-996C= (n.11167-996C=) c.4578-6C= c.8773-6C= c.5939-6C= (n.5939-6C=) c.8957-6C= c.11873-6C= (n.11873-6C=) c.2027-6C= (n.2027-6C=) c.3229-6C= c.1260+308C= c.3044-6C= n.48-6C= c.11747-6C= (n.11747-6C=) n.5676-6C= c.11876-6C= (n.11876-6C=) | |
2 | g.73601189C>T | CA1715365 | ALMS1 | c.11492-6C>T (n.11492-6C>T) c.11167-996C>T (n.11167-996C>T) c.4578-6C>T c.8773-6C>T c.5939-6C>T (n.5939-6C>T) c.8957-6C>T c.11873-6C>T (n.11873-6C>T) c.2027-6C>T (n.2027-6C>T) c.3229-6C>T c.1260+308C>T c.3044-6C>T n.48-6C>T c.11747-6C>T (n.11747-6C>T) n.5676-6C>T c.11876-6C>T (n.11876-6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601191G>A | CA658822843 | ALMS1 | c.11492-4G>A (n.11492-4G>A) c.11167-994G>A (n.11167-994G>A) c.4578-4G>A c.8773-4G>A c.5939-4G>A (n.5939-4G>A) c.8957-4G>A c.11873-4G>A (n.11873-4G>A) c.2027-4G>A (n.2027-4G>A) c.3229-4G>A c.1260+310G>A c.3044-4G>A n.48-4G>A c.11747-4G>A (n.11747-4G>A) n.5676-4G>A c.11876-4G>A (n.11876-4G>A) | ClinVar dbSNP |
2 | g.73601191G= | CA1261033615 | ALMS1 | c.11492-4G= (n.11492-4G=) c.11167-994G= (n.11167-994G=) c.4578-4G= c.8773-4G= c.5939-4G= (n.5939-4G=) c.8957-4G= c.11873-4G= (n.11873-4G=) c.2027-4G= (n.2027-4G=) c.3229-4G= c.1260+310G= c.3044-4G= n.48-4G= c.11747-4G= (n.11747-4G=) n.5676-4G= c.11876-4G= (n.11876-4G=) | |
2 | g.73601191G>T | CA2659621089 | ALMS1 | c.11492-4G>T (n.11492-4G>T) c.11167-994G>T (n.11167-994G>T) c.4578-4G>T c.8773-4G>T c.5939-4G>T (n.5939-4G>T) c.8957-4G>T c.11873-4G>T (n.11873-4G>T) c.2027-4G>T (n.2027-4G>T) c.3229-4G>T c.1260+310G>T c.3044-4G>T n.48-4G>T c.11747-4G>T (n.11747-4G>T) n.5676-4G>T c.11876-4G>T (n.11876-4G>T) | gnomAD v4 |
2 | g.73601192T>G | CA2586969570 | ALMS1 | c.11492-3T>G (n.11492-3T>G) c.11167-993T>G (n.11167-993T>G) c.4578-3T>G c.8773-3T>G c.5939-3T>G (n.5939-3T>G) c.8957-3T>G c.11873-3T>G (n.11873-3T>G) c.2027-3T>G (n.2027-3T>G) c.3229-3T>G c.1260+311T>G c.3044-3T>G n.48-3T>G c.11747-3T>G (n.11747-3T>G) n.5676-3T>G c.11876-3T>G (n.11876-3T>G) | |
2 | g.73601193A= | CA1261033620 | ALMS1 | c.11492-2A= (n.11492-2A=) c.11167-992A= (n.11167-992A=) c.4578-2A= c.8773-2A= c.5939-2A= (n.5939-2A=) c.8957-2A= c.11873-2A= (n.11873-2A=) c.2027-2A= (n.2027-2A=) c.3229-2A= c.1260+312A= c.3044-2A= n.48-2A= c.11747-2A= (n.11747-2A=) n.5676-2A= c.11876-2A= (n.11876-2A=) | |
2 | g.73601193A>C | CA347265324 | ALMS1 | c.11492-2A>C (n.11492-2A>C) c.11167-992A>C (n.11167-992A>C) c.4578-2A>C c.8773-2A>C c.5939-2A>C (n.5939-2A>C) c.8957-2A>C c.11873-2A>C (n.11873-2A>C) c.2027-2A>C (n.2027-2A>C) c.3229-2A>C c.1260+312A>C c.3044-2A>C n.48-2A>C c.11747-2A>C (n.11747-2A>C) n.5676-2A>C c.11876-2A>C (n.11876-2A>C) | |
2 | g.73601193A>G | CA347265327 | ALMS1 | c.11492-2A>G (n.11492-2A>G) c.11167-992A>G (n.11167-992A>G) c.4578-2A>G c.8773-2A>G c.5939-2A>G (n.5939-2A>G) c.8957-2A>G c.11873-2A>G (n.11873-2A>G) c.2027-2A>G (n.2027-2A>G) c.3229-2A>G c.1260+312A>G c.3044-2A>G n.48-2A>G c.11747-2A>G (n.11747-2A>G) n.5676-2A>G c.11876-2A>G (n.11876-2A>G) | |
2 | g.73601193A>T | CA236054 | ALMS1 | c.11492-2A>T (n.11492-2A>T) c.11167-992A>T (n.11167-992A>T) c.4578-2A>T c.8773-2A>T c.5939-2A>T (n.5939-2A>T) c.8957-2A>T c.11873-2A>T (n.11873-2A>T) c.2027-2A>T (n.2027-2A>T) c.3229-2A>T c.1260+312A>T c.3044-2A>T n.48-2A>T c.11747-2A>T (n.11747-2A>T) n.5676-2A>T c.11876-2A>T (n.11876-2A>T) | ClinVar dbSNP |
2 | g.73601194G>A | CA347265334 | ALMS1 | c.11492-1G>A (n.11492-1G>A) c.11167-991G>A (n.11167-991G>A) c.4578-1G>A c.8773-1G>A c.5939-1G>A (n.5939-1G>A) c.8957-1G>A c.11873-1G>A (n.11873-1G>A) c.2027-1G>A (n.2027-1G>A) c.3229-1G>A c.1260+313G>A c.3044-1G>A n.48-1G>A c.11747-1G>A (n.11747-1G>A) n.5676-1G>A c.11876-1G>A (n.11876-1G>A) | |
2 | g.73601194G>C | CA347265337 | ALMS1 | c.11492-1G>C (n.11492-1G>C) c.11167-991G>C (n.11167-991G>C) c.4578-1G>C c.8773-1G>C c.5939-1G>C (n.5939-1G>C) c.8957-1G>C c.11873-1G>C (n.11873-1G>C) c.2027-1G>C (n.2027-1G>C) c.3229-1G>C c.1260+313G>C c.3044-1G>C n.48-1G>C c.11747-1G>C (n.11747-1G>C) n.5676-1G>C c.11876-1G>C (n.11876-1G>C) | ClinVar dbSNP |
2 | g.73601194G>T | CA347265339 | ALMS1 | c.11492-1G>T (n.11492-1G>T) c.11167-991G>T (n.11167-991G>T) c.4578-1G>T c.8773-1G>T c.5939-1G>T (n.5939-1G>T) c.8957-1G>T c.11873-1G>T (n.11873-1G>T) c.2027-1G>T (n.2027-1G>T) c.3229-1G>T c.1260+313G>T c.3044-1G>T n.48-1G>T c.11747-1G>T (n.11747-1G>T) n.5676-1G>T c.11876-1G>T (n.11876-1G>T) | |
2 | g.73601195G>A | CA347265342 | ALMS1 | c.11492G>A (p.Gly3831Glu) c.11167-990G>A (n.11167-990G>A) c.4578G>A c.8773G>A c.5939G>A (p.Gly1980Glu) c.8957G>A c.11873G>A (p.Gly3958Glu) c.2027G>A (p.Gly676Glu) c.3229G>A c.1260+314G>A c.3044G>A n.48G>A c.11747G>A (p.Gly3916Glu) n.5676G>A c.11876G>A (p.Gly3959Glu) | |
2 | g.73601195G>C | CA347265345 | ALMS1 | c.11492G>C (p.Gly3831Ala) c.11167-990G>C (n.11167-990G>C) c.4578G>C c.8773G>C c.5939G>C (p.Gly1980Ala) c.8957G>C c.11873G>C (p.Gly3958Ala) c.2027G>C (p.Gly676Ala) c.3229G>C c.1260+314G>C c.3044G>C n.48G>C c.11747G>C (p.Gly3916Ala) n.5676G>C c.11876G>C (p.Gly3959Ala) | gnomAD v4 |
2 | g.73601195G>T | CA347265350 | ALMS1 | c.11492G>T (p.Gly3831Val) c.11167-990G>T (n.11167-990G>T) c.4578G>T c.8773G>T c.5939G>T (p.Gly1980Val) c.8957G>T c.11873G>T (p.Gly3958Val) c.2027G>T (p.Gly676Val) c.3229G>T c.1260+314G>T c.3044G>T n.48G>T c.11747G>T (p.Gly3916Val) n.5676G>T c.11876G>T (p.Gly3959Val) | |
2 | g.73601196A>C | CA426783468 | ALMS1 | c.11493A>C (p.Gly3831=) c.11167-989A>C (n.11167-989A>C) c.4579A>C c.8774A>C c.5940A>C (p.Gly1980=) c.8958A>C c.11874A>C (p.Gly3958=) c.2028A>C (p.Gly676=) c.3230A>C c.1260+315A>C c.3045A>C n.49A>C c.11748A>C (p.Gly3916=) n.5677A>C c.11877A>C (p.Gly3959=) | |
2 | g.73601196A>G | CA426783464 | ALMS1 | c.11493A>G (p.Gly3831=) c.11167-989A>G (n.11167-989A>G) c.4579A>G c.8774A>G c.5940A>G (p.Gly1980=) c.8958A>G c.11874A>G (p.Gly3958=) c.2028A>G (p.Gly676=) c.3230A>G c.1260+315A>G c.3045A>G n.49A>G c.11748A>G (p.Gly3916=) n.5677A>G c.11877A>G (p.Gly3959=) | |
2 | g.73601196A>T | CA426783466 | ALMS1 | c.11493A>T (p.Gly3831=) c.11167-989A>T (n.11167-989A>T) c.4579A>T c.8774A>T c.5940A>T (p.Gly1980=) c.8958A>T c.11874A>T (p.Gly3958=) c.2028A>T (p.Gly676=) c.3230A>T c.1260+315A>T c.3045A>T n.49A>T c.11748A>T (p.Gly3916=) n.5677A>T c.11877A>T (p.Gly3959=) | |
2 | g.73601197G>A | CA347265357 | ALMS1 | c.11494G>A (p.Val3832Ile) c.11167-988G>A (n.11167-988G>A) c.4580G>A c.8775G>A c.5941G>A (p.Val1981Ile) c.8959G>A c.11875G>A (p.Val3959Ile) c.2029G>A (p.Val677Ile) c.3231G>A c.1260+316G>A c.3046G>A n.50G>A c.11749G>A (p.Val3917Ile) n.5678G>A c.11878G>A (p.Val3960Ile) | dbSNP gnomAD v4 |
2 | g.73601197G>C | CA347265360 | ALMS1 | c.11494G>C (p.Val3832Leu) c.11167-988G>C (n.11167-988G>C) c.4580G>C c.8775G>C c.5941G>C (p.Val1981Leu) c.8959G>C c.11875G>C (p.Val3959Leu) c.2029G>C (p.Val677Leu) c.3231G>C c.1260+316G>C c.3046G>C n.50G>C c.11749G>C (p.Val3917Leu) n.5678G>C c.11878G>C (p.Val3960Leu) | |
2 | g.73601197G= | CA1261033626 | ALMS1 | c.11494G= (p.Val3832=) c.11167-988G= (n.11167-988G=) c.4580G= c.8775G= c.5941G= (p.Val1981=) c.8959G= c.11875G= (p.Val3959=) c.2029G= (p.Val677=) c.3231G= c.1260+316G= c.3046G= n.50G= c.11749G= (p.Val3917=) n.5678G= c.11878G= (p.Val3960=) | |
2 | g.73601197G>T | CA347265354 | ALMS1 | c.11494G>T (p.Val3832Phe) c.11167-988G>T (n.11167-988G>T) c.4580G>T c.8775G>T c.5941G>T (p.Val1981Phe) c.8959G>T c.11875G>T (p.Val3959Phe) c.2029G>T (p.Val677Phe) c.3231G>T c.1260+316G>T c.3046G>T n.50G>T c.11749G>T (p.Val3917Phe) n.5678G>T c.11878G>T (p.Val3960Phe) | |
2 | g.73601197_73601199delinsGTT | CA1261033628 | ALMS1 | c.11494_11496delinsGTT (p.Val3832=) c.11167-988_11167-986delinsGTT (n.11167-988_11167-986delinsGTT) c.4580_4582delinsGTT c.8775_8777delinsGTT c.5941_5943delinsGTT (p.Val1981=) c.8959_8961delinsGTT c.11875_11877delinsGTT (p.Val3959=) c.2029_2031delinsGTT (p.Val677=) c.3231_3233delinsGTT c.1260+316_1260+318delinsGTT c.3046_3048delinsGTT n.50_52delinsGTT c.11749_11751delinsGTT (p.Val3917=) n.5678_5680delinsGTT c.11878_11880delinsGTT (p.Val3960=) | |
2 | g.73601198T>A | CA347265362 | ALMS1 | c.11495T>A (p.Val3832Asp) c.11167-987T>A (n.11167-987T>A) c.4581T>A c.8776T>A c.5942T>A (p.Val1981Asp) c.8960T>A c.11876T>A (p.Val3959Asp) c.2030T>A (p.Val677Asp) c.3232T>A c.1260+317T>A c.3047T>A n.51T>A c.11750T>A (p.Val3917Asp) n.5679T>A c.11879T>A (p.Val3960Asp) | |
2 | g.73601198T>C | CA347265363 | ALMS1 | c.11495T>C (p.Val3832Ala) c.11167-987T>C (n.11167-987T>C) c.4581T>C c.8776T>C c.5942T>C (p.Val1981Ala) c.8960T>C c.11876T>C (p.Val3959Ala) c.2030T>C (p.Val677Ala) c.3232T>C c.1260+317T>C c.3047T>C n.51T>C c.11750T>C (p.Val3917Ala) n.5679T>C c.11879T>C (p.Val3960Ala) | |
2 | g.73601198T>G | CA347265365 | ALMS1 | c.11495T>G (p.Val3832Gly) c.11167-987T>G (n.11167-987T>G) c.4581T>G c.8776T>G c.5942T>G (p.Val1981Gly) c.8960T>G c.11876T>G (p.Val3959Gly) c.2030T>G (p.Val677Gly) c.3232T>G c.1260+317T>G c.3047T>G n.51T>G c.11750T>G (p.Val3917Gly) n.5679T>G c.11879T>G (p.Val3960Gly) | |
2 | g.73601200dup | CA2586969571 | ALMS1 | c.11497dup (p.Ser3833PhefsTer12) c.11167-985dup (n.11167-985dup) c.4583dup c.8778dup c.5944dup (p.Ser1982PhefsTer12) c.8962dup c.11878dup (p.Ser3960PhefsTer12) c.2032dup (p.Ser678PhefsTer12) c.3234dup c.1260+319dup c.3049dup n.53dup c.11752dup (p.Ser3918PhefsTer12) n.5681dup c.11881dup (p.Ser3961PhefsTer12) | ClinVar gnomAD v4 |
2 | g.73601199_73601200del | CA1715366 | ALMS1 | c.11496_11497del (p.Ser3833LeufsTer11) c.11167-986_11167-985del (n.11167-986_11167-985del) c.4582_4583del c.8777_8778del c.5943_5944del (p.Ser1982LeufsTer11) c.8961_8962del c.11877_11878del (p.Ser3960LeufsTer11) c.2031_2032del (p.Ser678LeufsTer11) c.3233_3234del c.1260+318_1260+319del c.3048_3049del n.52_53del c.11751_11752del (p.Ser3918LeufsTer11) n.5680_5681del c.11880_11881del (p.Ser3961LeufsTer11) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73601199T>A | CA426783473 | ALMS1 | c.11496T>A (p.Val3832=) c.11167-986T>A (n.11167-986T>A) c.4582T>A c.8777T>A c.5943T>A (p.Val1981=) c.8961T>A c.11877T>A (p.Val3959=) c.2031T>A (p.Val677=) c.3233T>A c.1260+318T>A c.3048T>A n.52T>A c.11751T>A (p.Val3917=) n.5680T>A c.11880T>A (p.Val3960=) | |
2 | g.73601199T>C | CA1715367 | ALMS1 | c.11496T>C (p.Val3832=) c.11167-986T>C (n.11167-986T>C) c.4582T>C c.8777T>C c.5943T>C (p.Val1981=) c.8961T>C c.11877T>C (p.Val3959=) c.2031T>C (p.Val677=) c.3233T>C c.1260+318T>C c.3048T>C n.52T>C c.11751T>C (p.Val3917=) n.5680T>C c.11880T>C (p.Val3960=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601199T>G | CA426783474 | ALMS1 | c.11496T>G (p.Val3832=) c.11167-986T>G (n.11167-986T>G) c.4582T>G c.8777T>G c.5943T>G (p.Val1981=) c.8961T>G c.11877T>G (p.Val3959=) c.2031T>G (p.Val677=) c.3233T>G c.1260+318T>G c.3048T>G n.52T>G c.11751T>G (p.Val3917=) n.5680T>G c.11880T>G (p.Val3960=) | gnomAD v4 |
2 | g.73601199T= | CA1261033633 | ALMS1 | c.11496T= (p.Val3832=) c.11167-986T= (n.11167-986T=) c.4582T= c.8777T= c.5943T= (p.Val1981=) c.8961T= c.11877T= (p.Val3959=) c.2031T= (p.Val677=) c.3233T= c.1260+318T= c.3048T= n.52T= c.11751T= (p.Val3917=) n.5680T= c.11880T= (p.Val3960=) | |
2 | g.73601200T>A | CA347265375 | ALMS1 | c.11497T>A (p.Ser3833Thr) c.11167-985T>A (n.11167-985T>A) c.4583T>A c.8778T>A c.5944T>A (p.Ser1982Thr) c.8962T>A c.11878T>A (p.Ser3960Thr) c.2032T>A (p.Ser678Thr) c.3234T>A c.1260+319T>A c.3049T>A n.53T>A c.11752T>A (p.Ser3918Thr) n.5681T>A c.11881T>A (p.Ser3961Thr) | |
2 | g.73601200T>C | CA50337231 | ALMS1 | c.11497T>C (p.Ser3833Pro) c.11167-985T>C (n.11167-985T>C) c.4583T>C c.8778T>C c.5944T>C (p.Ser1982Pro) c.8962T>C c.11878T>C (p.Ser3960Pro) c.2032T>C (p.Ser678Pro) c.3234T>C c.1260+319T>C c.3049T>C n.53T>C c.11752T>C (p.Ser3918Pro) n.5681T>C c.11881T>C (p.Ser3961Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601200T>G | CA347265372 | ALMS1 | c.11497T>G (p.Ser3833Ala) c.11167-985T>G (n.11167-985T>G) c.4583T>G c.8778T>G c.5944T>G (p.Ser1982Ala) c.8962T>G c.11878T>G (p.Ser3960Ala) c.2032T>G (p.Ser678Ala) c.3234T>G c.1260+319T>G c.3049T>G n.53T>G c.11752T>G (p.Ser3918Ala) n.5681T>G c.11881T>G (p.Ser3961Ala) | gnomAD v4 |
2 | g.73601200T= | CA1261033636 | ALMS1 | c.11497T= (p.Ser3833=) c.11167-985T= (n.11167-985T=) c.4583T= c.8778T= c.5944T= (p.Ser1982=) c.8962T= c.11878T= (p.Ser3960=) c.2032T= (p.Ser678=) c.3234T= c.1260+319T= c.3049T= n.53T= c.11752T= (p.Ser3918=) n.5681T= c.11881T= (p.Ser3961=) | |
2 | g.73601201C>A | CA347265378 | ALMS1 | c.11498C>A (p.Ser3833Tyr) c.11167-984C>A (n.11167-984C>A) c.4584C>A c.8779C>A c.5945C>A (p.Ser1982Tyr) c.8963C>A c.11879C>A (p.Ser3960Tyr) c.2033C>A (p.Ser678Tyr) c.3235C>A c.1260+320C>A c.3050C>A n.54C>A c.11753C>A (p.Ser3918Tyr) n.5682C>A c.11882C>A (p.Ser3961Tyr) | gnomAD v4 |
2 | g.73601201C>G | CA347265380 | ALMS1 | c.11498C>G (p.Ser3833Cys) c.11167-984C>G (n.11167-984C>G) c.4584C>G c.8779C>G c.5945C>G (p.Ser1982Cys) c.8963C>G c.11879C>G (p.Ser3960Cys) c.2033C>G (p.Ser678Cys) c.3235C>G c.1260+320C>G c.3050C>G n.54C>G c.11753C>G (p.Ser3918Cys) n.5682C>G c.11882C>G (p.Ser3961Cys) | |
2 | g.73601201C>T | CA347265382 | ALMS1 | c.11498C>T (p.Ser3833Phe) c.11167-984C>T (n.11167-984C>T) c.4584C>T c.8779C>T c.5945C>T (p.Ser1982Phe) c.8963C>T c.11879C>T (p.Ser3960Phe) c.2033C>T (p.Ser678Phe) c.3235C>T c.1260+320C>T c.3050C>T n.54C>T c.11753C>T (p.Ser3918Phe) n.5682C>T c.11882C>T (p.Ser3961Phe) | gnomAD v4 |
2 | g.73601202C>A | CA426783476 | ALMS1 | c.11499C>A (p.Ser3833=) c.11167-983C>A (n.11167-983C>A) c.4585C>A c.8780C>A c.5946C>A (p.Ser1982=) c.8964C>A c.11880C>A (p.Ser3960=) c.2034C>A (p.Ser678=) c.3236C>A c.1260+321C>A c.3051C>A n.55C>A c.11754C>A (p.Ser3918=) n.5683C>A c.11883C>A (p.Ser3961=) | |
2 | g.73601202C>G | CA426783477 | ALMS1 | c.11499C>G (p.Ser3833=) c.11167-983C>G (n.11167-983C>G) c.4585C>G c.8780C>G c.5946C>G (p.Ser1982=) c.8964C>G c.11880C>G (p.Ser3960=) c.2034C>G (p.Ser678=) c.3236C>G c.1260+321C>G c.3051C>G n.55C>G c.11754C>G (p.Ser3918=) n.5683C>G c.11883C>G (p.Ser3961=) | gnomAD v4 |
2 | g.73601202C>T | CA426783478 | ALMS1 | c.11499C>T (p.Ser3833=) c.11167-983C>T (n.11167-983C>T) c.4585C>T c.8780C>T c.5946C>T (p.Ser1982=) c.8964C>T c.11880C>T (p.Ser3960=) c.2034C>T (p.Ser678=) c.3236C>T c.1260+321C>T c.3051C>T n.55C>T c.11754C>T (p.Ser3918=) n.5683C>T c.11883C>T (p.Ser3961=) | |
2 | g.73601203T>A | CA347265387 | ALMS1 | c.11500T>A (p.Trp3834Arg) c.11167-982T>A (n.11167-982T>A) c.4586T>A c.8781T>A c.5947T>A (p.Trp1983Arg) c.8965T>A c.11881T>A (p.Trp3961Arg) c.2035T>A (p.Trp679Arg) c.3237T>A c.1260+322T>A c.3052T>A n.56T>A c.11755T>A (p.Trp3919Arg) n.5684T>A c.11884T>A (p.Trp3962Arg) | |
2 | g.73601203T>C | CA1715368 | ALMS1 | c.11500T>C (p.Trp3834Arg) c.11167-982T>C (n.11167-982T>C) c.4586T>C c.8781T>C c.5947T>C (p.Trp1983Arg) c.8965T>C c.11881T>C (p.Trp3961Arg) c.2035T>C (p.Trp679Arg) c.3237T>C c.1260+322T>C c.3052T>C n.56T>C c.11755T>C (p.Trp3919Arg) n.5684T>C c.11884T>C (p.Trp3962Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73601203T>G | CA347265389 | ALMS1 | c.11500T>G (p.Trp3834Gly) c.11167-982T>G (n.11167-982T>G) c.4586T>G c.8781T>G c.5947T>G (p.Trp1983Gly) c.8965T>G c.11881T>G (p.Trp3961Gly) c.2035T>G (p.Trp679Gly) c.3237T>G c.1260+322T>G c.3052T>G n.56T>G c.11755T>G (p.Trp3919Gly) n.5684T>G c.11884T>G (p.Trp3962Gly) | |
2 | g.73601203T= | CA1261033639 | ALMS1 | c.11500T= (p.Trp3834=) c.11167-982T= (n.11167-982T=) c.4586T= c.8781T= c.5947T= (p.Trp1983=) c.8965T= c.11881T= (p.Trp3961=) c.2035T= (p.Trp679=) c.3237T= c.1260+322T= c.3052T= n.56T= c.11755T= (p.Trp3919=) n.5684T= c.11884T= (p.Trp3962=) | |
2 | g.73601204G>A | CA347265390 | ALMS1 | c.11501G>A (p.Trp3834Ter) c.11167-981G>A (n.11167-981G>A) c.4587G>A c.8782G>A c.5948G>A (p.Trp1983Ter) c.8966G>A c.11882G>A (p.Trp3961Ter) c.2036G>A (p.Trp679Ter) c.3238G>A c.1260+323G>A c.3053G>A n.57G>A c.11756G>A (p.Trp3919Ter) n.5685G>A c.11885G>A (p.Trp3962Ter) | ClinVar dbSNP |
2 | g.73601204G>C | CA347265394 | ALMS1 | c.11501G>C (p.Trp3834Ser) c.11167-981G>C (n.11167-981G>C) c.4587G>C c.8782G>C c.5948G>C (p.Trp1983Ser) c.8966G>C c.11882G>C (p.Trp3961Ser) c.2036G>C (p.Trp679Ser) c.3238G>C c.1260+323G>C c.3053G>C n.57G>C c.11756G>C (p.Trp3919Ser) n.5685G>C c.11885G>C (p.Trp3962Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73601204G= | CA1261033642 | ALMS1 | c.11501G= (p.Trp3834=) c.11167-981G= (n.11167-981G=) c.4587G= c.8782G= c.5948G= (p.Trp1983=) c.8966G= c.11882G= (p.Trp3961=) c.2036G= (p.Trp679=) c.3238G= c.1260+323G= c.3053G= n.57G= c.11756G= (p.Trp3919=) n.5685G= c.11885G= (p.Trp3962=) | |
2 | g.73601204G>T | CA347265391 | ALMS1 | c.11501G>T (p.Trp3834Leu) c.11167-981G>T (n.11167-981G>T) c.4587G>T c.8782G>T c.5948G>T (p.Trp1983Leu) c.8966G>T c.11882G>T (p.Trp3961Leu) c.2036G>T (p.Trp679Leu) c.3238G>T c.1260+323G>T c.3053G>T n.57G>T c.11756G>T (p.Trp3919Leu) n.5685G>T c.11885G>T (p.Trp3962Leu) | gnomAD v4 |
2 | g.73601205G>A | CA347265403 | ALMS1 | c.11502G>A (p.Trp3834Ter) c.11167-980G>A (n.11167-980G>A) c.4588G>A c.8783G>A c.5949G>A (p.Trp1983Ter) c.8967G>A c.11883G>A (p.Trp3961Ter) c.2037G>A (p.Trp679Ter) c.3239G>A c.1260+324G>A c.3054G>A n.58G>A c.11757G>A (p.Trp3919Ter) n.5686G>A c.11886G>A (p.Trp3962Ter) | gnomAD v4 |
2 | g.73601205G>C | CA1715369 | ALMS1 | c.11502G>C (p.Trp3834Cys) c.11167-980G>C (n.11167-980G>C) c.4588G>C c.8783G>C c.5949G>C (p.Trp1983Cys) c.8967G>C c.11883G>C (p.Trp3961Cys) c.2037G>C (p.Trp679Cys) c.3239G>C c.1260+324G>C c.3054G>C n.58G>C c.11757G>C (p.Trp3919Cys) n.5686G>C c.11886G>C (p.Trp3962Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73601205G= | CA1261033644 | ALMS1 | c.11502G= (p.Trp3834=) c.11167-980G= (n.11167-980G=) c.4588G= c.8783G= c.5949G= (p.Trp1983=) c.8967G= c.11883G= (p.Trp3961=) c.2037G= (p.Trp679=) c.3239G= c.1260+324G= c.3054G= n.58G= c.11757G= (p.Trp3919=) n.5686G= c.11886G= (p.Trp3962=) | |
2 | g.73601205G>T | CA347265409 | ALMS1 | c.11502G>T (p.Trp3834Cys) c.11167-980G>T (n.11167-980G>T) c.4588G>T c.8783G>T c.5949G>T (p.Trp1983Cys) c.8967G>T c.11883G>T (p.Trp3961Cys) c.2037G>T (p.Trp679Cys) c.3239G>T c.1260+324G>T c.3054G>T n.58G>T c.11757G>T (p.Trp3919Cys) n.5686G>T c.11886G>T (p.Trp3962Cys) | gnomAD v4 |
2 | g.73601206T>A | CA347265413 | ALMS1 | c.11503T>A (p.Phe3835Ile) c.11167-979T>A (n.11167-979T>A) c.4589T>A c.8784T>A c.5950T>A (p.Phe1984Ile) c.8968T>A c.11884T>A (p.Phe3962Ile) c.2038T>A (p.Phe680Ile) c.3240T>A c.1260+325T>A c.3055T>A n.59T>A c.11758T>A (p.Phe3920Ile) n.5687T>A c.11887T>A (p.Phe3963Ile) | |
2 | g.73601206T>C | CA347265415 | ALMS1 | c.11503T>C (p.Phe3835Leu) c.11167-979T>C (n.11167-979T>C) c.4589T>C c.8784T>C c.5950T>C (p.Phe1984Leu) c.8968T>C c.11884T>C (p.Phe3962Leu) c.2038T>C (p.Phe680Leu) c.3240T>C c.1260+325T>C c.3055T>C n.59T>C c.11758T>C (p.Phe3920Leu) n.5687T>C c.11887T>C (p.Phe3963Leu) | |
2 | g.73601206T>G | CA347265417 | ALMS1 | c.11503T>G (p.Phe3835Val) c.11167-979T>G (n.11167-979T>G) c.4589T>G c.8784T>G c.5950T>G (p.Phe1984Val) c.8968T>G c.11884T>G (p.Phe3962Val) c.2038T>G (p.Phe680Val) c.3240T>G c.1260+325T>G c.3055T>G n.59T>G c.11758T>G (p.Phe3920Val) n.5687T>G c.11887T>G (p.Phe3963Val) | |
2 | g.73601207T>A | CA347265422 | ALMS1 | c.11504T>A (p.Phe3835Tyr) c.11167-978T>A (n.11167-978T>A) c.4590T>A c.8785T>A c.5951T>A (p.Phe1984Tyr) c.8969T>A c.11885T>A (p.Phe3962Tyr) c.2039T>A (p.Phe680Tyr) c.3241T>A c.1260+326T>A c.3056T>A n.60T>A c.11759T>A (p.Phe3920Tyr) n.5688T>A c.11888T>A (p.Phe3963Tyr) | |
2 | g.73601207T>C | CA347265425 | ALMS1 | c.11504T>C (p.Phe3835Ser) c.11167-978T>C (n.11167-978T>C) c.4590T>C c.8785T>C c.5951T>C (p.Phe1984Ser) c.8969T>C c.11885T>C (p.Phe3962Ser) c.2039T>C (p.Phe680Ser) c.3241T>C c.1260+326T>C c.3056T>C n.60T>C c.11759T>C (p.Phe3920Ser) n.5688T>C c.11888T>C (p.Phe3963Ser) | |
2 | g.73601207T>G | CA347265426 | ALMS1 | c.11504T>G (p.Phe3835Cys) c.11167-978T>G (n.11167-978T>G) c.4590T>G c.8785T>G c.5951T>G (p.Phe1984Cys) c.8969T>G c.11885T>G (p.Phe3962Cys) c.2039T>G (p.Phe680Cys) c.3241T>G c.1260+326T>G c.3056T>G n.60T>G c.11759T>G (p.Phe3920Cys) n.5688T>G c.11888T>G (p.Phe3963Cys) | |
2 | g.73601208T>A | CA347265429 | ALMS1 | c.11505T>A (p.Phe3835Leu) c.11167-977T>A (n.11167-977T>A) c.4591T>A c.8786T>A c.5952T>A (p.Phe1984Leu) c.8970T>A c.11886T>A (p.Phe3962Leu) c.2040T>A (p.Phe680Leu) c.3242T>A c.1260+327T>A c.3057T>A n.61T>A c.11760T>A (p.Phe3920Leu) n.5689T>A c.11889T>A (p.Phe3963Leu) | |
2 | g.73601208T>C | CA426783481 | ALMS1 | c.11505T>C (p.Phe3835=) c.11167-977T>C (n.11167-977T>C) c.4591T>C c.8786T>C c.5952T>C (p.Phe1984=) c.8970T>C c.11886T>C (p.Phe3962=) c.2040T>C (p.Phe680=) c.3242T>C c.1260+327T>C c.3057T>C n.61T>C c.11760T>C (p.Phe3920=) n.5689T>C c.11889T>C (p.Phe3963=) | |
2 | g.73601208T>G | CA347265438 | ALMS1 | c.11505T>G (p.Phe3835Leu) c.11167-977T>G (n.11167-977T>G) c.4591T>G c.8786T>G c.5952T>G (p.Phe1984Leu) c.8970T>G c.11886T>G (p.Phe3962Leu) c.2040T>G (p.Phe680Leu) c.3242T>G c.1260+327T>G c.3057T>G n.61T>G c.11760T>G (p.Phe3920Leu) n.5689T>G c.11889T>G (p.Phe3963Leu) | |
2 | g.73601209G>A | CA347265446 | ALMS1 | c.11506G>A (p.Val3836Ile) c.11167-976G>A (n.11167-976G>A) c.4592G>A c.8787G>A c.5953G>A (p.Val1985Ile) c.8971G>A c.11887G>A (p.Val3963Ile) c.2041G>A (p.Val681Ile) c.3243G>A c.1260+328G>A c.3058G>A n.62G>A c.11761G>A (p.Val3921Ile) n.5690G>A c.11890G>A (p.Val3964Ile) | ClinVar gnomAD v4 |
2 | g.73601209G>C | CA347265444 | ALMS1 | c.11506G>C (p.Val3836Leu) c.11167-976G>C (n.11167-976G>C) c.4592G>C c.8787G>C c.5953G>C (p.Val1985Leu) c.8971G>C c.11887G>C (p.Val3963Leu) c.2041G>C (p.Val681Leu) c.3243G>C c.1260+328G>C c.3058G>C n.62G>C c.11761G>C (p.Val3921Leu) n.5690G>C c.11890G>C (p.Val3964Leu) | |
2 | g.73601209G= | CA1261033648 | ALMS1 | c.11506G= (p.Val3836=) c.11167-976G= (n.11167-976G=) c.4592G= c.8787G= c.5953G= (p.Val1985=) c.8971G= c.11887G= (p.Val3963=) c.2041G= (p.Val681=) c.3243G= c.1260+328G= c.3058G= n.62G= c.11761G= (p.Val3921=) n.5690G= c.11890G= (p.Val3964=) | |
2 | g.73601209G>T | CA10614379 | ALMS1 | c.11506G>T (p.Val3836Phe) c.11167-976G>T (n.11167-976G>T) c.4592G>T c.8787G>T c.5953G>T (p.Val1985Phe) c.8971G>T c.11887G>T (p.Val3963Phe) c.2041G>T (p.Val681Phe) c.3243G>T c.1260+328G>T c.3058G>T n.62G>T c.11761G>T (p.Val3921Phe) n.5690G>T c.11890G>T (p.Val3964Phe) | ClinVar dbSNP |
2 | g.73601210T>A | CA347265451 | ALMS1 | c.11507T>A (p.Val3836Asp) c.11167-975T>A (n.11167-975T>A) c.4593T>A c.8788T>A c.5954T>A (p.Val1985Asp) c.8972T>A c.11888T>A (p.Val3963Asp) c.2042T>A (p.Val681Asp) c.3244T>A c.1260+329T>A c.3059T>A n.63T>A c.11762T>A (p.Val3921Asp) n.5691T>A c.11891T>A (p.Val3964Asp) | |
2 | g.73601210T>C | CA1715370 | ALMS1 | c.11507T>C (p.Val3836Ala) c.11167-975T>C (n.11167-975T>C) c.4593T>C c.8788T>C c.5954T>C (p.Val1985Ala) c.8972T>C c.11888T>C (p.Val3963Ala) c.2042T>C (p.Val681Ala) c.3244T>C c.1260+329T>C c.3059T>C n.63T>C c.11762T>C (p.Val3921Ala) n.5691T>C c.11891T>C (p.Val3964Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601210T>G | CA347265453 | ALMS1 | c.11507T>G (p.Val3836Gly) c.11167-975T>G (n.11167-975T>G) c.4593T>G c.8788T>G c.5954T>G (p.Val1985Gly) c.8972T>G c.11888T>G (p.Val3963Gly) c.2042T>G (p.Val681Gly) c.3244T>G c.1260+329T>G c.3059T>G n.63T>G c.11762T>G (p.Val3921Gly) n.5691T>G c.11891T>G (p.Val3964Gly) | |
2 | g.73601210T= | CA1261033652 | ALMS1 | c.11507T= (p.Val3836=) c.11167-975T= (n.11167-975T=) c.4593T= c.8788T= c.5954T= (p.Val1985=) c.8972T= c.11888T= (p.Val3963=) c.2042T= (p.Val681=) c.3244T= c.1260+329T= c.3059T= n.63T= c.11762T= (p.Val3921=) n.5691T= c.11891T= (p.Val3964=) | |
2 | g.73601211T>A | CA426783483 | ALMS1 | c.11508T>A (p.Val3836=) c.11167-974T>A (n.11167-974T>A) c.4594T>A c.8789T>A c.5955T>A (p.Val1985=) c.8973T>A c.11889T>A (p.Val3963=) c.2043T>A (p.Val681=) c.3245T>A c.1260+330T>A c.3060T>A n.64T>A c.11763T>A (p.Val3921=) n.5692T>A c.11892T>A (p.Val3964=) | |
2 | g.73601211T>C | CA426783484 | ALMS1 | c.11508T>C (p.Val3836=) c.11167-974T>C (n.11167-974T>C) c.4594T>C c.8789T>C c.5955T>C (p.Val1985=) c.8973T>C c.11889T>C (p.Val3963=) c.2043T>C (p.Val681=) c.3245T>C c.1260+330T>C c.3060T>C n.64T>C c.11763T>C (p.Val3921=) n.5692T>C c.11892T>C (p.Val3964=) | |
2 | g.73601211T>G | CA426783485 | ALMS1 | c.11508T>G (p.Val3836=) c.11167-974T>G (n.11167-974T>G) c.4594T>G c.8789T>G c.5955T>G (p.Val1985=) c.8973T>G c.11889T>G (p.Val3963=) c.2043T>G (p.Val681=) c.3245T>G c.1260+330T>G c.3060T>G n.64T>G c.11763T>G (p.Val3921=) n.5692T>G c.11892T>G (p.Val3964=) | ClinVar |
2 | g.73601212C>A | CA347265459 | ALMS1 | c.11509C>A (p.Pro3837Thr) c.11167-973C>A (n.11167-973C>A) c.4595C>A c.8790C>A c.5956C>A (p.Pro1986Thr) c.8974C>A c.11890C>A (p.Pro3964Thr) c.2044C>A (p.Pro682Thr) c.3246C>A c.1260+331C>A c.3061C>A n.65C>A c.11764C>A (p.Pro3922Thr) n.5693C>A c.11893C>A (p.Pro3965Thr) | gnomAD v4 |
2 | g.73601212C= | CA1261033656 | ALMS1 | c.11509C= (p.Pro3837=) c.11167-973C= (n.11167-973C=) c.4595C= c.8790C= c.5956C= (p.Pro1986=) c.8974C= c.11890C= (p.Pro3964=) c.2044C= (p.Pro682=) c.3246C= c.1260+331C= c.3061C= n.65C= c.11764C= (p.Pro3922=) n.5693C= c.11893C= (p.Pro3965=) | |
2 | g.73601212C>G | CA347265464 | ALMS1 | c.11509C>G (p.Pro3837Ala) c.11167-973C>G (n.11167-973C>G) c.4595C>G c.8790C>G c.5956C>G (p.Pro1986Ala) c.8974C>G c.11890C>G (p.Pro3964Ala) c.2044C>G (p.Pro682Ala) c.3246C>G c.1260+331C>G c.3061C>G n.65C>G c.11764C>G (p.Pro3922Ala) n.5693C>G c.11893C>G (p.Pro3965Ala) | |
2 | g.73601212C>T | CA1715371 | ALMS1 | c.11509C>T (p.Pro3837Ser) c.11167-973C>T (n.11167-973C>T) c.4595C>T c.8790C>T c.5956C>T (p.Pro1986Ser) c.8974C>T c.11890C>T (p.Pro3964Ser) c.2044C>T (p.Pro682Ser) c.3246C>T c.1260+331C>T c.3061C>T n.65C>T c.11764C>T (p.Pro3922Ser) n.5693C>T c.11893C>T (p.Pro3965Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601213del | CA2659621090 | ALMS1 | c.11510del (p.Pro3837LeufsTer28) c.11167-972del (n.11167-972del) c.4596del c.8791del c.5957del (p.Pro1986LeufsTer28) c.8975del c.11891del (p.Pro3964LeufsTer28) c.2045del (p.Pro682LeufsTer28) c.3247del c.1260+332del c.3062del n.66del c.11765del (p.Pro3922LeufsTer28) n.5694del c.11894del (p.Pro3965LeufsTer28) | gnomAD v4 |
2 | g.73601213C>A | CA347265467 | ALMS1 | c.11510C>A (p.Pro3837His) c.11167-972C>A (n.11167-972C>A) c.4596C>A c.8791C>A c.5957C>A (p.Pro1986His) c.8975C>A c.11891C>A (p.Pro3964His) c.2045C>A (p.Pro682His) c.3247C>A c.1260+332C>A c.3062C>A n.66C>A c.11765C>A (p.Pro3922His) n.5694C>A c.11894C>A (p.Pro3965His) | |
2 | g.73601213C= | CA1261033659 | ALMS1 | c.11510C= (p.Pro3837=) c.11167-972C= (n.11167-972C=) c.4596C= c.8791C= c.5957C= (p.Pro1986=) c.8975C= c.11891C= (p.Pro3964=) c.2045C= (p.Pro682=) c.3247C= c.1260+332C= c.3062C= n.66C= c.11765C= (p.Pro3922=) n.5694C= c.11894C= (p.Pro3965=) | |
2 | g.73601213C>G | CA347265470 | ALMS1 | c.11510C>G (p.Pro3837Arg) c.11167-972C>G (n.11167-972C>G) c.4596C>G c.8791C>G c.5957C>G (p.Pro1986Arg) c.8975C>G c.11891C>G (p.Pro3964Arg) c.2045C>G (p.Pro682Arg) c.3247C>G c.1260+332C>G c.3062C>G n.66C>G c.11765C>G (p.Pro3922Arg) n.5694C>G c.11894C>G (p.Pro3965Arg) | |
2 | g.73601213C>T | CA347265469 | ALMS1 | c.11510C>T (p.Pro3837Leu) c.11167-972C>T (n.11167-972C>T) c.4596C>T c.8791C>T c.5957C>T (p.Pro1986Leu) c.8975C>T c.11891C>T (p.Pro3964Leu) c.2045C>T (p.Pro682Leu) c.3247C>T c.1260+332C>T c.3062C>T n.66C>T c.11765C>T (p.Pro3922Leu) n.5694C>T c.11894C>T (p.Pro3965Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601214T>A | CA426783487 | ALMS1 | c.11511T>A (p.Pro3837=) c.11167-971T>A (n.11167-971T>A) c.4597T>A c.8792T>A c.5958T>A (p.Pro1986=) c.8976T>A c.11892T>A (p.Pro3964=) c.2046T>A (p.Pro682=) c.3248T>A c.1260+333T>A c.3063T>A n.67T>A c.11766T>A (p.Pro3922=) n.5695T>A c.11895T>A (p.Pro3965=) | dbSNP |
2 | g.73601214T>C | CA426783488 | ALMS1 | c.11511T>C (p.Pro3837=) c.11167-971T>C (n.11167-971T>C) c.4597T>C c.8792T>C c.5958T>C (p.Pro1986=) c.8976T>C c.11892T>C (p.Pro3964=) c.2046T>C (p.Pro682=) c.3248T>C c.1260+333T>C c.3063T>C n.67T>C c.11766T>C (p.Pro3922=) n.5695T>C c.11895T>C (p.Pro3965=) | |
2 | g.73601214T>G | CA426783489 | ALMS1 | c.11511T>G (p.Pro3837=) c.11167-971T>G (n.11167-971T>G) c.4597T>G c.8792T>G c.5958T>G (p.Pro1986=) c.8976T>G c.11892T>G (p.Pro3964=) c.2046T>G (p.Pro682=) c.3248T>G c.1260+333T>G c.3063T>G n.67T>G c.11766T>G (p.Pro3922=) n.5695T>G c.11895T>G (p.Pro3965=) | |
2 | g.73601214T= | CA1261033662 | ALMS1 | c.11511T= (p.Pro3837=) c.11167-971T= (n.11167-971T=) c.4597T= c.8792T= c.5958T= (p.Pro1986=) c.8976T= c.11892T= (p.Pro3964=) c.2046T= (p.Pro682=) c.3248T= c.1260+333T= c.3063T= n.67T= c.11766T= (p.Pro3922=) n.5695T= c.11895T= (p.Pro3965=) | |
2 | g.73601215G>A | CA347265471 | ALMS1 | c.11512G>A (p.Val3838Met) c.11167-970G>A (n.11167-970G>A) c.4598G>A c.8793G>A c.5959G>A (p.Val1987Met) c.8977G>A c.11893G>A (p.Val3965Met) c.2047G>A (p.Val683Met) c.3249G>A c.1260+334G>A c.3064G>A n.68G>A c.11767G>A (p.Val3923Met) n.5696G>A c.11896G>A (p.Val3966Met) | |
2 | g.73601215G>C | CA347265472 | ALMS1 | c.11512G>C (p.Val3838Leu) c.11167-970G>C (n.11167-970G>C) c.4598G>C c.8793G>C c.5959G>C (p.Val1987Leu) c.8977G>C c.11893G>C (p.Val3965Leu) c.2047G>C (p.Val683Leu) c.3249G>C c.1260+334G>C c.3064G>C n.68G>C c.11767G>C (p.Val3923Leu) n.5696G>C c.11896G>C (p.Val3966Leu) | |
2 | g.73601215G= | CA1261033665 | ALMS1 | c.11512G= (p.Val3838=) c.11167-970G= (n.11167-970G=) c.4598G= c.8793G= c.5959G= (p.Val1987=) c.8977G= c.11893G= (p.Val3965=) c.2047G= (p.Val683=) c.3249G= c.1260+334G= c.3064G= n.68G= c.11767G= (p.Val3923=) n.5696G= c.11896G= (p.Val3966=) | |
2 | g.73601215G>T | CA1715372 | ALMS1 | c.11512G>T (p.Val3838Leu) c.11167-970G>T (n.11167-970G>T) c.4598G>T c.8793G>T c.5959G>T (p.Val1987Leu) c.8977G>T c.11893G>T (p.Val3965Leu) c.2047G>T (p.Val683Leu) c.3249G>T c.1260+334G>T c.3064G>T n.68G>T c.11767G>T (p.Val3923Leu) n.5696G>T c.11896G>T (p.Val3966Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601216T>A | CA347265477 | ALMS1 | c.11513T>A (p.Val3838Glu) c.11167-969T>A (n.11167-969T>A) c.4599T>A c.8794T>A c.5960T>A (p.Val1987Glu) c.8978T>A c.11894T>A (p.Val3965Glu) c.2048T>A (p.Val683Glu) c.3250T>A c.1260+335T>A c.3065T>A n.69T>A c.11768T>A (p.Val3923Glu) n.5697T>A c.11897T>A (p.Val3966Glu) | |
2 | g.73601216T>C | CA347265478 | ALMS1 | c.11513T>C (p.Val3838Ala) c.11167-969T>C (n.11167-969T>C) c.4599T>C c.8794T>C c.5960T>C (p.Val1987Ala) c.8978T>C c.11894T>C (p.Val3965Ala) c.2048T>C (p.Val683Ala) c.3250T>C c.1260+335T>C c.3065T>C n.69T>C c.11768T>C (p.Val3923Ala) n.5697T>C c.11897T>C (p.Val3966Ala) | gnomAD v4 |
2 | g.73601216T>G | CA347265481 | ALMS1 | c.11513T>G (p.Val3838Gly) c.11167-969T>G (n.11167-969T>G) c.4599T>G c.8794T>G c.5960T>G (p.Val1987Gly) c.8978T>G c.11894T>G (p.Val3965Gly) c.2048T>G (p.Val683Gly) c.3250T>G c.1260+335T>G c.3065T>G n.69T>G c.11768T>G (p.Val3923Gly) n.5697T>G c.11897T>G (p.Val3966Gly) | |
2 | g.73601217G>A | CA426783494 | ALMS1 | c.11514G>A (p.Val3838=) c.11167-968G>A (n.11167-968G>A) c.4600G>A c.8795G>A c.5961G>A (p.Val1987=) c.8979G>A c.11895G>A (p.Val3965=) c.2049G>A (p.Val683=) c.3251G>A c.1260+336G>A c.3066G>A n.70G>A c.11769G>A (p.Val3923=) n.5698G>A c.11898G>A (p.Val3966=) | ClinVar dbSNP |
2 | g.73601217G>C | CA426783493 | ALMS1 | c.11514G>C (p.Val3838=) c.11167-968G>C (n.11167-968G>C) c.4600G>C c.8795G>C c.5961G>C (p.Val1987=) c.8979G>C c.11895G>C (p.Val3965=) c.2049G>C (p.Val683=) c.3251G>C c.1260+336G>C c.3066G>C n.70G>C c.11769G>C (p.Val3923=) n.5698G>C c.11898G>C (p.Val3966=) | |
2 | g.73601217G>T | CA426783495 | ALMS1 | c.11514G>T (p.Val3838=) c.11167-968G>T (n.11167-968G>T) c.4600G>T c.8795G>T c.5961G>T (p.Val1987=) c.8979G>T c.11895G>T (p.Val3965=) c.2049G>T (p.Val683=) c.3251G>T c.1260+336G>T c.3066G>T n.70G>T c.11769G>T (p.Val3923=) n.5698G>T c.11898G>T (p.Val3966=) | |
2 | g.73601218G>A | CA347265486 | ALMS1 | c.11515G>A (p.Glu3839Lys) c.11167-967G>A (n.11167-967G>A) c.4601G>A c.8796G>A c.5962G>A (p.Glu1988Lys) c.8980G>A c.11896G>A (p.Glu3966Lys) c.2050G>A (p.Glu684Lys) c.3252G>A c.1260+337G>A c.3067G>A n.71G>A c.11770G>A (p.Glu3924Lys) n.5699G>A c.11899G>A (p.Glu3967Lys) | gnomAD v4 |
2 | g.73601218G>C | CA347265489 | ALMS1 | c.11515G>C (p.Glu3839Gln) c.11167-967G>C (n.11167-967G>C) c.4601G>C c.8796G>C c.5962G>C (p.Glu1988Gln) c.8980G>C c.11896G>C (p.Glu3966Gln) c.2050G>C (p.Glu684Gln) c.3252G>C c.1260+337G>C c.3067G>C n.71G>C c.11770G>C (p.Glu3924Gln) n.5699G>C c.11899G>C (p.Glu3967Gln) | |
2 | g.73601218G>T | CA347265491 | ALMS1 | c.11515G>T (p.Glu3839Ter) c.11167-967G>T (n.11167-967G>T) c.4601G>T c.8796G>T c.5962G>T (p.Glu1988Ter) c.8980G>T c.11896G>T (p.Glu3966Ter) c.2050G>T (p.Glu684Ter) c.3252G>T c.1260+337G>T c.3067G>T n.71G>T c.11770G>T (p.Glu3924Ter) n.5699G>T c.11899G>T (p.Glu3967Ter) | |
2 | g.73601219A= | CA1261033670 | ALMS1 | c.11516A= (p.Glu3839=) c.11167-966A= (n.11167-966A=) c.4602A= c.8797A= c.5963A= (p.Glu1988=) c.8981A= c.11897A= (p.Glu3966=) c.2051A= (p.Glu684=) c.3253A= c.1260+338A= c.3068A= n.72A= c.11771A= (p.Glu3924=) n.5700A= c.11900A= (p.Glu3967=) | |
2 | g.73601219A>C | CA347265500 | ALMS1 | c.11516A>C (p.Glu3839Ala) c.11167-966A>C (n.11167-966A>C) c.4602A>C c.8797A>C c.5963A>C (p.Glu1988Ala) c.8981A>C c.11897A>C (p.Glu3966Ala) c.2051A>C (p.Glu684Ala) c.3253A>C c.1260+338A>C c.3068A>C n.72A>C c.11771A>C (p.Glu3924Ala) n.5700A>C c.11900A>C (p.Glu3967Ala) | |
2 | g.73601219A>G | CA1715374 | ALMS1 | c.11516A>G (p.Glu3839Gly) c.11167-966A>G (n.11167-966A>G) c.4602A>G c.8797A>G c.5963A>G (p.Glu1988Gly) c.8981A>G c.11897A>G (p.Glu3966Gly) c.2051A>G (p.Glu684Gly) c.3253A>G c.1260+338A>G c.3068A>G n.72A>G c.11771A>G (p.Glu3924Gly) n.5700A>G c.11900A>G (p.Glu3967Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73601219A>T | CA1715373 | ALMS1 | c.11516A>T (p.Glu3839Val) c.11167-966A>T (n.11167-966A>T) c.4602A>T c.8797A>T c.5963A>T (p.Glu1988Val) c.8981A>T c.11897A>T (p.Glu3966Val) c.2051A>T (p.Glu684Val) c.3253A>T c.1260+338A>T c.3068A>T n.72A>T c.11771A>T (p.Glu3924Val) n.5700A>T c.11900A>T (p.Glu3967Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601220A>C | CA347265501 | ALMS1 | c.11517A>C (p.Glu3839Asp) c.11167-965A>C (n.11167-965A>C) c.4603A>C c.8798A>C c.5964A>C (p.Glu1988Asp) c.8982A>C c.11898A>C (p.Glu3966Asp) c.2052A>C (p.Glu684Asp) c.3254A>C c.1260+339A>C c.3069A>C n.73A>C c.11772A>C (p.Glu3924Asp) n.5701A>C c.11901A>C (p.Glu3967Asp) | |
2 | g.73601220A>G | CA426783499 | ALMS1 | c.11517A>G (p.Glu3839=) c.11167-965A>G (n.11167-965A>G) c.4603A>G c.8798A>G c.5964A>G (p.Glu1988=) c.8982A>G c.11898A>G (p.Glu3966=) c.2052A>G (p.Glu684=) c.3254A>G c.1260+339A>G c.3069A>G n.73A>G c.11772A>G (p.Glu3924=) n.5701A>G c.11901A>G (p.Glu3967=) | ClinVar |
2 | g.73601220A>T | CA347265503 | ALMS1 | c.11517A>T (p.Glu3839Asp) c.11167-965A>T (n.11167-965A>T) c.4603A>T c.8798A>T c.5964A>T (p.Glu1988Asp) c.8982A>T c.11898A>T (p.Glu3966Asp) c.2052A>T (p.Glu684Asp) c.3254A>T c.1260+339A>T c.3069A>T n.73A>T c.11772A>T (p.Glu3924Asp) n.5701A>T c.11901A>T (p.Glu3967Asp) | |
2 | g.73601221A>C | CA347265508 | ALMS1 | c.11518A>C (p.Asn3840His) c.11167-964A>C (n.11167-964A>C) c.4604A>C c.8799A>C c.5965A>C (p.Asn1989His) c.8983A>C c.11899A>C (p.Asn3967His) c.2053A>C (p.Asn685His) c.3255A>C c.1260+340A>C c.3070A>C n.74A>C c.11773A>C (p.Asn3925His) n.5702A>C c.11902A>C (p.Asn3968His) | |
2 | g.73601221A>G | CA347265511 | ALMS1 | c.11518A>G (p.Asn3840Asp) c.11167-964A>G (n.11167-964A>G) c.4604A>G c.8799A>G c.5965A>G (p.Asn1989Asp) c.8983A>G c.11899A>G (p.Asn3967Asp) c.2053A>G (p.Asn685Asp) c.3255A>G c.1260+340A>G c.3070A>G n.74A>G c.11773A>G (p.Asn3925Asp) n.5702A>G c.11902A>G (p.Asn3968Asp) | |
2 | g.73601221A>T | CA347265514 | ALMS1 | c.11518A>T (p.Asn3840Tyr) c.11167-964A>T (n.11167-964A>T) c.4604A>T c.8799A>T c.5965A>T (p.Asn1989Tyr) c.8983A>T c.11899A>T (p.Asn3967Tyr) c.2053A>T (p.Asn685Tyr) c.3255A>T c.1260+340A>T c.3070A>T n.74A>T c.11773A>T (p.Asn3925Tyr) n.5702A>T c.11902A>T (p.Asn3968Tyr) | |
2 | g.73601222A>C | CA347265518 | ALMS1 | c.11519A>C (p.Asn3840Thr) c.11167-963A>C (n.11167-963A>C) c.4605A>C c.8800A>C c.5966A>C (p.Asn1989Thr) c.8984A>C c.11900A>C (p.Asn3967Thr) c.2054A>C (p.Asn685Thr) c.3256A>C c.1260+341A>C c.3071A>C n.75A>C c.11774A>C (p.Asn3925Thr) n.5703A>C c.11903A>C (p.Asn3968Thr) | |
2 | g.73601222A>G | CA347265520 | ALMS1 | c.11519A>G (p.Asn3840Ser) c.11167-963A>G (n.11167-963A>G) c.4605A>G c.8800A>G c.5966A>G (p.Asn1989Ser) c.8984A>G c.11900A>G (p.Asn3967Ser) c.2054A>G (p.Asn685Ser) c.3256A>G c.1260+341A>G c.3071A>G n.75A>G c.11774A>G (p.Asn3925Ser) n.5703A>G c.11903A>G (p.Asn3968Ser) | gnomAD v4 |
2 | g.73601222A>T | CA347265522 | ALMS1 | c.11519A>T (p.Asn3840Ile) c.11167-963A>T (n.11167-963A>T) c.4605A>T c.8800A>T c.5966A>T (p.Asn1989Ile) c.8984A>T c.11900A>T (p.Asn3967Ile) c.2054A>T (p.Asn685Ile) c.3256A>T c.1260+341A>T c.3071A>T n.75A>T c.11774A>T (p.Asn3925Ile) n.5703A>T c.11903A>T (p.Asn3968Ile) | |
2 | g.73601223T>A | CA347265527 | ALMS1 | c.11520T>A (p.Asn3840Lys) c.11167-962T>A (n.11167-962T>A) c.4606T>A c.8801T>A c.5967T>A (p.Asn1989Lys) c.8985T>A c.11901T>A (p.Asn3967Lys) c.2055T>A (p.Asn685Lys) c.3257T>A c.1260+342T>A c.3072T>A n.76T>A c.11775T>A (p.Asn3925Lys) n.5704T>A c.11904T>A (p.Asn3968Lys) | |
2 | g.73601223T>C | CA1715375 | ALMS1 | c.11520T>C (p.Asn3840=) c.11167-962T>C (n.11167-962T>C) c.4606T>C c.8801T>C c.5967T>C (p.Asn1989=) c.8985T>C c.11901T>C (p.Asn3967=) c.2055T>C (p.Asn685=) c.3257T>C c.1260+342T>C c.3072T>C n.76T>C c.11775T>C (p.Asn3925=) n.5704T>C c.11904T>C (p.Asn3968=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73601223T>G | CA347265532 | ALMS1 | c.11520T>G (p.Asn3840Lys) c.11167-962T>G (n.11167-962T>G) c.4606T>G c.8801T>G c.5967T>G (p.Asn1989Lys) c.8985T>G c.11901T>G (p.Asn3967Lys) c.2055T>G (p.Asn685Lys) c.3257T>G c.1260+342T>G c.3072T>G n.76T>G c.11775T>G (p.Asn3925Lys) n.5704T>G c.11904T>G (p.Asn3968Lys) | |
2 | g.73601223T= | CA1261033674 | ALMS1 | c.11520T= (p.Asn3840=) c.11167-962T= (n.11167-962T=) c.4606T= c.8801T= c.5967T= (p.Asn1989=) c.8985T= c.11901T= (p.Asn3967=) c.2055T= (p.Asn685=) c.3257T= c.1260+342T= c.3072T= n.76T= c.11775T= (p.Asn3925=) n.5704T= c.11904T= (p.Asn3968=) | |
2 | g.73601224G>A | CA347265539 | ALMS1 | c.11521G>A (p.Val3841Met) c.11167-961G>A (n.11167-961G>A) c.4607G>A c.8802G>A c.5968G>A (p.Val1990Met) c.8986G>A c.11902G>A (p.Val3968Met) c.2056G>A (p.Val686Met) c.3258G>A c.1260+343G>A c.3073G>A n.77G>A c.11776G>A (p.Val3926Met) n.5705G>A c.11905G>A (p.Val3969Met) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73601224G>C | CA347265541 | ALMS1 | c.11521G>C (p.Val3841Leu) c.11167-961G>C (n.11167-961G>C) c.4607G>C c.8802G>C c.5968G>C (p.Val1990Leu) c.8986G>C c.11902G>C (p.Val3968Leu) c.2056G>C (p.Val686Leu) c.3258G>C c.1260+343G>C c.3073G>C n.77G>C c.11776G>C (p.Val3926Leu) n.5705G>C c.11905G>C (p.Val3969Leu) | |
2 | g.73601224G= | CA1261033677 | ALMS1 | c.11521G= (p.Val3841=) c.11167-961G= (n.11167-961G=) c.4607G= c.8802G= c.5968G= (p.Val1990=) c.8986G= c.11902G= (p.Val3968=) c.2056G= (p.Val686=) c.3258G= c.1260+343G= c.3073G= n.77G= c.11776G= (p.Val3926=) n.5705G= c.11905G= (p.Val3969=) | |
2 | g.73601224G>T | CA347265535 | ALMS1 | c.11521G>T (p.Val3841Leu) c.11167-961G>T (n.11167-961G>T) c.4607G>T c.8802G>T c.5968G>T (p.Val1990Leu) c.8986G>T c.11902G>T (p.Val3968Leu) c.2056G>T (p.Val686Leu) c.3258G>T c.1260+343G>T c.3073G>T n.77G>T c.11776G>T (p.Val3926Leu) n.5705G>T c.11905G>T (p.Val3969Leu) | |
2 | g.73601226_73601230del | CA2499216270 | ALMS1 | c.11523_11527del (p.Glu3842Ter) c.11167-959_11167-955del (n.11167-959_11167-955del) c.4609_4613del c.8804_8808del c.5970_5974del (p.Glu1991Ter) c.8988_8992del c.11904_11908del (p.Glu3969Ter) c.2058_2062del (p.Glu687Ter) c.3260_3264del c.1260+345_1260+349del c.3075_3079del n.79_83del c.11778_11782del (p.Glu3927Ter) n.5707_5711del c.11907_11911del (p.Glu3970Ter) | ClinVar dbSNP gnomAD v4 |
2 | g.73601227_73601253del | CA2659621091 | ALMS1 | c.11524_11550del (p.Glu3842_Val3850del) c.11167-958_11167-932del (n.11167-958_11167-932del) c.4610_4636del c.8805_8831del c.5971_5997del (p.Glu1991_Val1999del) c.8989_9015del c.11905_11931del (p.Glu3969_Val3977del) c.2059_2085del (p.Glu687_Val695del) c.3261_3287del c.1260+346_1260+372del c.3076_3102del n.80_106del c.11779_11805del (p.Glu3927_Val3935del) n.5708_5734del c.11908_11934del (p.Glu3970_Val3978del) | gnomAD v4 |
2 | g.73601225T>A | CA347265545 | ALMS1 | c.11522T>A (p.Val3841Glu) c.11167-960T>A (n.11167-960T>A) c.4608T>A c.8803T>A c.5969T>A (p.Val1990Glu) c.8987T>A c.11903T>A (p.Val3968Glu) c.2057T>A (p.Val686Glu) c.3259T>A c.1260+344T>A c.3074T>A n.78T>A c.11777T>A (p.Val3926Glu) n.5706T>A c.11906T>A (p.Val3969Glu) | gnomAD v4 |
2 | g.73601225T>C | CA347265547 | ALMS1 | c.11522T>C (p.Val3841Ala) c.11167-960T>C (n.11167-960T>C) c.4608T>C c.8803T>C c.5969T>C (p.Val1990Ala) c.8987T>C c.11903T>C (p.Val3968Ala) c.2057T>C (p.Val686Ala) c.3259T>C c.1260+344T>C c.3074T>C n.78T>C c.11777T>C (p.Val3926Ala) n.5706T>C c.11906T>C (p.Val3969Ala) | |
2 | g.73601225T>G | CA347265550 | ALMS1 | c.11522T>G (p.Val3841Gly) c.11167-960T>G (n.11167-960T>G) c.4608T>G c.8803T>G c.5969T>G (p.Val1990Gly) c.8987T>G c.11903T>G (p.Val3968Gly) c.2057T>G (p.Val686Gly) c.3259T>G c.1260+344T>G c.3074T>G n.78T>G c.11777T>G (p.Val3926Gly) n.5706T>G c.11906T>G (p.Val3969Gly) | |
2 | g.73601226G>A | CA426783503 | ALMS1 | c.11523G>A (p.Val3841=) c.11167-959G>A (n.11167-959G>A) c.4609G>A c.8804G>A c.5970G>A (p.Val1990=) c.8988G>A c.11904G>A (p.Val3968=) c.2058G>A (p.Val686=) c.3260G>A c.1260+345G>A c.3075G>A n.79G>A c.11778G>A (p.Val3926=) n.5707G>A c.11907G>A (p.Val3969=) | gnomAD v4 |
2 | g.73601226G>C | CA426783504 | ALMS1 | c.11523G>C (p.Val3841=) c.11167-959G>C (n.11167-959G>C) c.4609G>C c.8804G>C c.5970G>C (p.Val1990=) c.8988G>C c.11904G>C (p.Val3968=) c.2058G>C (p.Val686=) c.3260G>C c.1260+345G>C c.3075G>C n.79G>C c.11778G>C (p.Val3926=) n.5707G>C c.11907G>C (p.Val3969=) | |
2 | g.73601226G>T | CA426783505 | ALMS1 | c.11523G>T (p.Val3841=) c.11167-959G>T (n.11167-959G>T) c.4609G>T c.8804G>T c.5970G>T (p.Val1990=) c.8988G>T c.11904G>T (p.Val3968=) c.2058G>T (p.Val686=) c.3260G>T c.1260+345G>T c.3075G>T n.79G>T c.11778G>T (p.Val3926=) n.5707G>T c.11907G>T (p.Val3969=) | gnomAD v4 |
2 | g.73601227G>A | CA347265553 | ALMS1 | c.11524G>A (p.Glu3842Lys) c.11167-958G>A (n.11167-958G>A) c.4610G>A c.8805G>A c.5971G>A (p.Glu1991Lys) c.8989G>A c.11905G>A (p.Glu3969Lys) c.2059G>A (p.Glu687Lys) c.3261G>A c.1260+346G>A c.3076G>A n.80G>A c.11779G>A (p.Glu3927Lys) n.5708G>A c.11908G>A (p.Glu3970Lys) | dbSNP |
2 | g.73601227G>C | CA347265555 | ALMS1 | c.11524G>C (p.Glu3842Gln) c.11167-958G>C (n.11167-958G>C) c.4610G>C c.8805G>C c.5971G>C (p.Glu1991Gln) c.8989G>C c.11905G>C (p.Glu3969Gln) c.2059G>C (p.Glu687Gln) c.3261G>C c.1260+346G>C c.3076G>C n.80G>C c.11779G>C (p.Glu3927Gln) n.5708G>C c.11908G>C (p.Glu3970Gln) | gnomAD v4 |
2 | g.73601227G= | CA1261033681 | ALMS1 | c.11524G= (p.Glu3842=) c.11167-958G= (n.11167-958G=) c.4610G= c.8805G= c.5971G= (p.Glu1991=) c.8989G= c.11905G= (p.Glu3969=) c.2059G= (p.Glu687=) c.3261G= c.1260+346G= c.3076G= n.80G= c.11779G= (p.Glu3927=) n.5708G= c.11908G= (p.Glu3970=) | |
2 | g.73601227G>T | CA347265558 | ALMS1 | c.11524G>T (p.Glu3842Ter) c.11167-958G>T (n.11167-958G>T) c.4610G>T c.8805G>T c.5971G>T (p.Glu1991Ter) c.8989G>T c.11905G>T (p.Glu3969Ter) c.2059G>T (p.Glu687Ter) c.3261G>T c.1260+346G>T c.3076G>T n.80G>T c.11779G>T (p.Glu3927Ter) n.5708G>T c.11908G>T (p.Glu3970Ter) | |
2 | g.73601228A>C | CA347265560 | ALMS1 | c.11525A>C (p.Glu3842Ala) c.11167-957A>C (n.11167-957A>C) c.4611A>C c.8806A>C c.5972A>C (p.Glu1991Ala) c.8990A>C c.11906A>C (p.Glu3969Ala) c.2060A>C (p.Glu687Ala) c.3262A>C c.1260+347A>C c.3077A>C n.81A>C c.11780A>C (p.Glu3927Ala) n.5709A>C c.11909A>C (p.Glu3970Ala) | |
2 | g.73601228A>G | CA347265562 | ALMS1 | c.11525A>G (p.Glu3842Gly) c.11167-957A>G (n.11167-957A>G) c.4611A>G c.8806A>G c.5972A>G (p.Glu1991Gly) c.8990A>G c.11906A>G (p.Glu3969Gly) c.2060A>G (p.Glu687Gly) c.3262A>G c.1260+347A>G c.3077A>G n.81A>G c.11780A>G (p.Glu3927Gly) n.5709A>G c.11909A>G (p.Glu3970Gly) | |
2 | g.73601228A>T | CA347265565 | ALMS1 | c.11525A>T (p.Glu3842Val) c.11167-957A>T (n.11167-957A>T) c.4611A>T c.8806A>T c.5972A>T (p.Glu1991Val) c.8990A>T c.11906A>T (p.Glu3969Val) c.2060A>T (p.Glu687Val) c.3262A>T c.1260+347A>T c.3077A>T n.81A>T c.11780A>T (p.Glu3927Val) n.5709A>T c.11909A>T (p.Glu3970Val) | |
2 | g.73601229G>A | CA426783507 | ALMS1 | c.11526G>A (p.Glu3842=) c.11167-956G>A (n.11167-956G>A) c.4612G>A c.8807G>A c.5973G>A (p.Glu1991=) c.8991G>A c.11907G>A (p.Glu3969=) c.2061G>A (p.Glu687=) c.3263G>A c.1260+348G>A c.3078G>A n.82G>A c.11781G>A (p.Glu3927=) n.5710G>A c.11910G>A (p.Glu3970=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73601229G>C | CA347265569 | ALMS1 | c.11526G>C (p.Glu3842Asp) c.11167-956G>C (n.11167-956G>C) c.4612G>C c.8807G>C c.5973G>C (p.Glu1991Asp) c.8991G>C c.11907G>C (p.Glu3969Asp) c.2061G>C (p.Glu687Asp) c.3263G>C c.1260+348G>C c.3078G>C n.82G>C c.11781G>C (p.Glu3927Asp) n.5710G>C c.11910G>C (p.Glu3970Asp) | |
2 | g.73601229G= | CA1261033682 | ALMS1 | c.11526G= (p.Glu3842=) c.11167-956G= (n.11167-956G=) c.4612G= c.8807G= c.5973G= (p.Glu1991=) c.8991G= c.11907G= (p.Glu3969=) c.2061G= (p.Glu687=) c.3263G= c.1260+348G= c.3078G= n.82G= c.11781G= (p.Glu3927=) n.5710G= c.11910G= (p.Glu3970=) | |
2 | g.73601229G>T | CA1715376 | ALMS1 | c.11526G>T (p.Glu3842Asp) c.11167-956G>T (n.11167-956G>T) c.4612G>T c.8807G>T c.5973G>T (p.Glu1991Asp) c.8991G>T c.11907G>T (p.Glu3969Asp) c.2061G>T (p.Glu687Asp) c.3263G>T c.1260+348G>T c.3078G>T n.82G>T c.11781G>T (p.Glu3927Asp) n.5710G>T c.11910G>T (p.Glu3970Asp) | dbSNP ExAC gnomAD v4 |
2 | g.73601230T>A | CA347265580 | ALMS1 | c.11527T>A (p.Ser3843Thr) c.11167-955T>A (n.11167-955T>A) c.4613T>A c.8808T>A c.5974T>A (p.Ser1992Thr) c.8992T>A c.11908T>A (p.Ser3970Thr) c.2062T>A (p.Ser688Thr) c.3264T>A c.1260+349T>A c.3079T>A n.83T>A c.11782T>A (p.Ser3928Thr) n.5711T>A c.11911T>A (p.Ser3971Thr) | |
2 | g.73601230T>C | CA50337258 | ALMS1 | c.11527T>C (p.Ser3843Pro) c.11167-955T>C (n.11167-955T>C) c.4613T>C c.8808T>C c.5974T>C (p.Ser1992Pro) c.8992T>C c.11908T>C (p.Ser3970Pro) c.2062T>C (p.Ser688Pro) c.3264T>C c.1260+349T>C c.3079T>C n.83T>C c.11782T>C (p.Ser3928Pro) n.5711T>C c.11911T>C (p.Ser3971Pro) | ClinVar dbSNP |
2 | g.73601230T>G | CA347265575 | ALMS1 | c.11527T>G (p.Ser3843Ala) c.11167-955T>G (n.11167-955T>G) c.4613T>G c.8808T>G c.5974T>G (p.Ser1992Ala) c.8992T>G c.11908T>G (p.Ser3970Ala) c.2062T>G (p.Ser688Ala) c.3264T>G c.1260+349T>G c.3079T>G n.83T>G c.11782T>G (p.Ser3928Ala) n.5711T>G c.11911T>G (p.Ser3971Ala) | gnomAD v4 |
2 | g.73601230T= | CA1261033686 | ALMS1 | c.11527T= (p.Ser3843=) c.11167-955T= (n.11167-955T=) c.4613T= c.8808T= c.5974T= (p.Ser1992=) c.8992T= c.11908T= (p.Ser3970=) c.2062T= (p.Ser688=) c.3264T= c.1260+349T= c.3079T= n.83T= c.11782T= (p.Ser3928=) n.5711T= c.11911T= (p.Ser3971=) | |
2 | g.73601231C>A | CA347265583 | ALMS1 | c.11528C>A (p.Ser3843Tyr) c.11167-954C>A (n.11167-954C>A) c.4614C>A c.8809C>A c.5975C>A (p.Ser1992Tyr) c.8993C>A c.11909C>A (p.Ser3970Tyr) c.2063C>A (p.Ser688Tyr) c.3265C>A c.1260+350C>A c.3080C>A n.84C>A c.11783C>A (p.Ser3928Tyr) n.5712C>A c.11912C>A (p.Ser3971Tyr) | |
2 | g.73601231C= | CA1261033691 | ALMS1 | c.11528C= (p.Ser3843=) c.11167-954C= (n.11167-954C=) c.4614C= c.8809C= c.5975C= (p.Ser1992=) c.8993C= c.11909C= (p.Ser3970=) c.2063C= (p.Ser688=) c.3265C= c.1260+350C= c.3080C= n.84C= c.11783C= (p.Ser3928=) n.5712C= c.11912C= (p.Ser3971=) | |
2 | g.73601231C>G | CA1715377 | ALMS1 | c.11528C>G (p.Ser3843Cys) c.11167-954C>G (n.11167-954C>G) c.4614C>G c.8809C>G c.5975C>G (p.Ser1992Cys) c.8993C>G c.11909C>G (p.Ser3970Cys) c.2063C>G (p.Ser688Cys) c.3265C>G c.1260+350C>G c.3080C>G n.84C>G c.11783C>G (p.Ser3928Cys) n.5712C>G c.11912C>G (p.Ser3971Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73601231C>T | CA347265587 | ALMS1 | c.11528C>T (p.Ser3843Phe) c.11167-954C>T (n.11167-954C>T) c.4614C>T c.8809C>T c.5975C>T (p.Ser1992Phe) c.8993C>T c.11909C>T (p.Ser3970Phe) c.2063C>T (p.Ser688Phe) c.3265C>T c.1260+350C>T c.3080C>T n.84C>T c.11783C>T (p.Ser3928Phe) n.5712C>T c.11912C>T (p.Ser3971Phe) | |
2 | g.73601232T>A | CA426783508 | ALMS1 | c.11529T>A (p.Ser3843=) c.11167-953T>A (n.11167-953T>A) c.4615T>A c.8810T>A c.5976T>A (p.Ser1992=) c.8994T>A c.11910T>A (p.Ser3970=) c.2064T>A (p.Ser688=) c.3266T>A c.1260+351T>A c.3081T>A n.85T>A c.11784T>A (p.Ser3928=) n.5713T>A c.11913T>A (p.Ser3971=) | |
2 | g.73601232T>C | CA426783509 | ALMS1 | c.11529T>C (p.Ser3843=) c.11167-953T>C (n.11167-953T>C) c.4615T>C c.8810T>C c.5976T>C (p.Ser1992=) c.8994T>C c.11910T>C (p.Ser3970=) c.2064T>C (p.Ser688=) c.3266T>C c.1260+351T>C c.3081T>C n.85T>C c.11784T>C (p.Ser3928=) n.5713T>C c.11913T>C (p.Ser3971=) | ClinVar dbSNP |
2 | g.73601232T>G | CA426783511 | ALMS1 | c.11529T>G (p.Ser3843=) c.11167-953T>G (n.11167-953T>G) c.4615T>G c.8810T>G c.5976T>G (p.Ser1992=) c.8994T>G c.11910T>G (p.Ser3970=) c.2064T>G (p.Ser688=) c.3266T>G c.1260+351T>G c.3081T>G n.85T>G c.11784T>G (p.Ser3928=) n.5713T>G c.11913T>G (p.Ser3971=) | |
2 | g.73601233A= | CA1261033693 | ALMS1 | c.11530A= (p.Arg3844=) c.11167-952A= (n.11167-952A=) c.4616A= c.8811A= c.5977A= (p.Arg1993=) c.8995A= c.11911A= (p.Arg3971=) c.2065A= (p.Arg689=) c.3267A= c.1260+352A= c.3082A= n.86A= c.11785A= (p.Arg3929=) n.5714A= c.11914A= (p.Arg3972=) | |
2 | g.73601233A>C | CA426783512 | ALMS1 | c.11530A>C (p.Arg3844=) c.11167-952A>C (n.11167-952A>C) c.4616A>C c.8811A>C c.5977A>C (p.Arg1993=) c.8995A>C c.11911A>C (p.Arg3971=) c.2065A>C (p.Arg689=) c.3267A>C c.1260+352A>C c.3082A>C n.86A>C c.11785A>C (p.Arg3929=) n.5714A>C c.11914A>C (p.Arg3972=) | |
2 | g.73601233A>G | CA1715378 | ALMS1 | c.11530A>G (p.Arg3844Gly) c.11167-952A>G (n.11167-952A>G) c.4616A>G c.8811A>G c.5977A>G (p.Arg1993Gly) c.8995A>G c.11911A>G (p.Arg3971Gly) c.2065A>G (p.Arg689Gly) c.3267A>G c.1260+352A>G c.3082A>G n.86A>G c.11785A>G (p.Arg3929Gly) n.5714A>G c.11914A>G (p.Arg3972Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73601233A>T | CA347265593 | ALMS1 | c.11530A>T (p.Arg3844Ter) c.11167-952A>T (n.11167-952A>T) c.4616A>T c.8811A>T c.5977A>T (p.Arg1993Ter) c.8995A>T c.11911A>T (p.Arg3971Ter) c.2065A>T (p.Arg689Ter) c.3267A>T c.1260+352A>T c.3082A>T n.86A>T c.11785A>T (p.Arg3929Ter) n.5714A>T c.11914A>T (p.Arg3972Ter) | |
2 | g.73601234G>A | CA347265597 | ALMS1 | c.11531G>A (p.Arg3844Lys) c.11167-951G>A (n.11167-951G>A) c.4617G>A c.8812G>A c.5978G>A (p.Arg1993Lys) c.8996G>A c.11912G>A (p.Arg3971Lys) c.2066G>A (p.Arg689Lys) c.3268G>A c.1260+353G>A c.3083G>A n.87G>A c.11786G>A (p.Arg3929Lys) n.5715G>A c.11915G>A (p.Arg3972Lys) | |
2 | g.73601234G>C | CA347265598 | ALMS1 | c.11531G>C (p.Arg3844Thr) c.11167-951G>C (n.11167-951G>C) c.4617G>C c.8812G>C c.5978G>C (p.Arg1993Thr) c.8996G>C c.11912G>C (p.Arg3971Thr) c.2066G>C (p.Arg689Thr) c.3268G>C c.1260+353G>C c.3083G>C n.87G>C c.11786G>C (p.Arg3929Thr) n.5715G>C c.11915G>C (p.Arg3972Thr) | gnomAD v4 |
2 | g.73601234G= | CA1261033695 | ALMS1 | c.11531G= (p.Arg3844=) c.11167-951G= (n.11167-951G=) c.4617G= c.8812G= c.5978G= (p.Arg1993=) c.8996G= c.11912G= (p.Arg3971=) c.2066G= (p.Arg689=) c.3268G= c.1260+353G= c.3083G= n.87G= c.11786G= (p.Arg3929=) n.5715G= c.11915G= (p.Arg3972=) | |
2 | g.73601234G>T | CA347265601 | ALMS1 | c.11531G>T (p.Arg3844Ile) c.11167-951G>T (n.11167-951G>T) c.4617G>T c.8812G>T c.5978G>T (p.Arg1993Ile) c.8996G>T c.11912G>T (p.Arg3971Ile) c.2066G>T (p.Arg689Ile) c.3268G>T c.1260+353G>T c.3083G>T n.87G>T c.11786G>T (p.Arg3929Ile) n.5715G>T c.11915G>T (p.Arg3972Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73601235A>C | CA347265604 | ALMS1 | c.11532A>C (p.Arg3844Ser) c.11167-950A>C (n.11167-950A>C) c.4618A>C c.8813A>C c.5979A>C (p.Arg1993Ser) c.8997A>C c.11913A>C (p.Arg3971Ser) c.2067A>C (p.Arg689Ser) c.3269A>C c.1260+354A>C c.3084A>C n.88A>C c.11787A>C (p.Arg3929Ser) n.5716A>C c.11916A>C (p.Arg3972Ser) | |
2 | g.73601235A>G | CA426783513 | ALMS1 | c.11532A>G (p.Arg3844=) c.11167-950A>G (n.11167-950A>G) c.4618A>G c.8813A>G c.5979A>G (p.Arg1993=) c.8997A>G c.11913A>G (p.Arg3971=) c.2067A>G (p.Arg689=) c.3269A>G c.1260+354A>G c.3084A>G n.88A>G c.11787A>G (p.Arg3929=) n.5716A>G c.11916A>G (p.Arg3972=) | |
2 | g.73601235A>T | CA347265606 | ALMS1 | c.11532A>T (p.Arg3844Ser) c.11167-950A>T (n.11167-950A>T) c.4618A>T c.8813A>T c.5979A>T (p.Arg1993Ser) c.8997A>T c.11913A>T (p.Arg3971Ser) c.2067A>T (p.Arg689Ser) c.3269A>T c.1260+354A>T c.3084A>T n.88A>T c.11787A>T (p.Arg3929Ser) n.5716A>T c.11916A>T (p.Arg3972Ser) | |
2 | g.73601236T>A | CA347265609 | ALMS1 | c.11533T>A (p.Ser3845Thr) c.11167-949T>A (n.11167-949T>A) c.4619T>A c.8814T>A c.5980T>A (p.Ser1994Thr) c.8998T>A c.11914T>A (p.Ser3972Thr) c.2068T>A (p.Ser690Thr) c.3270T>A c.1260+355T>A c.3085T>A n.89T>A c.11788T>A (p.Ser3930Thr) n.5717T>A c.11917T>A (p.Ser3973Thr) | dbSNP gnomAD v2 |
2 | g.73601236T>C | CA347265611 | ALMS1 | c.11533T>C (p.Ser3845Pro) c.11167-949T>C (n.11167-949T>C) c.4619T>C c.8814T>C c.5980T>C (p.Ser1994Pro) c.8998T>C c.11914T>C (p.Ser3972Pro) c.2068T>C (p.Ser690Pro) c.3270T>C c.1260+355T>C c.3085T>C n.89T>C c.11788T>C (p.Ser3930Pro) n.5717T>C c.11917T>C (p.Ser3973Pro) | |
2 | g.73601236T>G | CA1715379 | ALMS1 | c.11533T>G (p.Ser3845Ala) c.11167-949T>G (n.11167-949T>G) c.4619T>G c.8814T>G c.5980T>G (p.Ser1994Ala) c.8998T>G c.11914T>G (p.Ser3972Ala) c.2068T>G (p.Ser690Ala) c.3270T>G c.1260+355T>G c.3085T>G n.89T>G c.11788T>G (p.Ser3930Ala) n.5717T>G c.11917T>G (p.Ser3973Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73601236T= | CA1261033699 | ALMS1 | c.11533T= (p.Ser3845=) c.11167-949T= (n.11167-949T=) c.4619T= c.8814T= c.5980T= (p.Ser1994=) c.8998T= c.11914T= (p.Ser3972=) c.2068T= (p.Ser690=) c.3270T= c.1260+355T= c.3085T= n.89T= c.11788T= (p.Ser3930=) n.5717T= c.11917T= (p.Ser3973=) | |
2 | g.73601237C>A | CA347265618 | ALMS1 | c.11534C>A (p.Ser3845Ter) c.11167-948C>A (n.11167-948C>A) c.4620C>A c.8815C>A c.5981C>A (p.Ser1994Ter) c.8999C>A c.11915C>A (p.Ser3972Ter) c.2069C>A (p.Ser690Ter) c.3271C>A c.1260+356C>A c.3086C>A n.90C>A c.11789C>A (p.Ser3930Ter) n.5718C>A c.11918C>A (p.Ser3973Ter) | |
2 | g.73601237C= | CA1261033703 | ALMS1 | c.11534C= (p.Ser3845=) c.11167-948C= (n.11167-948C=) c.4620C= c.8815C= c.5981C= (p.Ser1994=) c.8999C= c.11915C= (p.Ser3972=) c.2069C= (p.Ser690=) c.3271C= c.1260+356C= c.3086C= n.90C= c.11789C= (p.Ser3930=) n.5718C= c.11918C= (p.Ser3973=) | |
2 | g.73601237C>G | CA1715380 | ALMS1 | c.11534C>G (p.Ser3845Ter) c.11167-948C>G (n.11167-948C>G) c.4620C>G c.8815C>G c.5981C>G (p.Ser1994Ter) c.8999C>G c.11915C>G (p.Ser3972Ter) c.2069C>G (p.Ser690Ter) c.3271C>G c.1260+356C>G c.3086C>G n.90C>G c.11789C>G (p.Ser3930Ter) n.5718C>G c.11918C>G (p.Ser3973Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73601237C>T | CA347265615 | ALMS1 | c.11534C>T (p.Ser3845Leu) c.11167-948C>T (n.11167-948C>T) c.4620C>T c.8815C>T c.5981C>T (p.Ser1994Leu) c.8999C>T c.11915C>T (p.Ser3972Leu) c.2069C>T (p.Ser690Leu) c.3271C>T c.1260+356C>T c.3086C>T n.90C>T c.11789C>T (p.Ser3930Leu) n.5718C>T c.11918C>T (p.Ser3973Leu) | |
2 | g.73601238A>C | CA426783516 | ALMS1 | c.11535A>C (p.Ser3845=) c.11167-947A>C (n.11167-947A>C) c.4621A>C c.8816A>C c.5982A>C (p.Ser1994=) c.9000A>C c.11916A>C (p.Ser3972=) c.2070A>C (p.Ser690=) c.3272A>C c.1260+357A>C c.3087A>C n.91A>C c.11790A>C (p.Ser3930=) n.5719A>C c.11919A>C (p.Ser3973=) | |
2 | g.73601238A>G | CA426783515 | ALMS1 | c.11535A>G (p.Ser3845=) c.11167-947A>G (n.11167-947A>G) c.4621A>G c.8816A>G c.5982A>G (p.Ser1994=) c.9000A>G c.11916A>G (p.Ser3972=) c.2070A>G (p.Ser690=) c.3272A>G c.1260+357A>G c.3087A>G n.91A>G c.11790A>G (p.Ser3930=) n.5719A>G c.11919A>G (p.Ser3973=) | |
2 | g.73601238A>T | CA426783514 | ALMS1 | c.11535A>T (p.Ser3845=) c.11167-947A>T (n.11167-947A>T) c.4621A>T c.8816A>T c.5982A>T (p.Ser1994=) c.9000A>T c.11916A>T (p.Ser3972=) c.2070A>T (p.Ser690=) c.3272A>T c.1260+357A>T c.3087A>T n.91A>T c.11790A>T (p.Ser3930=) n.5719A>T c.11919A>T (p.Ser3973=) | |
2 | g.73601239A>C | CA347265623 | ALMS1 | c.11536A>C (p.Lys3846Gln) c.11167-946A>C (n.11167-946A>C) c.4622A>C c.8817A>C c.5983A>C (p.Lys1995Gln) c.9001A>C c.11917A>C (p.Lys3973Gln) c.2071A>C (p.Lys691Gln) c.3273A>C c.1260+358A>C c.3088A>C n.92A>C c.11791A>C (p.Lys3931Gln) n.5720A>C c.11920A>C (p.Lys3974Gln) | |
2 | g.73601239A>G | CA347265625 | ALMS1 | c.11536A>G (p.Lys3846Glu) c.11167-946A>G (n.11167-946A>G) c.4622A>G c.8817A>G c.5983A>G (p.Lys1995Glu) c.9001A>G c.11917A>G (p.Lys3973Glu) c.2071A>G (p.Lys691Glu) c.3273A>G c.1260+358A>G c.3088A>G n.92A>G c.11791A>G (p.Lys3931Glu) n.5720A>G c.11920A>G (p.Lys3974Glu) | |
2 | g.73601239A>T | CA347265628 | ALMS1 | c.11536A>T (p.Lys3846Ter) c.11167-946A>T (n.11167-946A>T) c.4622A>T c.8817A>T c.5983A>T (p.Lys1995Ter) c.9001A>T c.11917A>T (p.Lys3973Ter) c.2071A>T (p.Lys691Ter) c.3273A>T c.1260+358A>T c.3088A>T n.92A>T c.11791A>T (p.Lys3931Ter) n.5720A>T c.11920A>T (p.Lys3974Ter) | |
2 | g.73601240A>C | CA347265633 | ALMS1 | c.11537A>C (p.Lys3846Thr) c.11167-945A>C (n.11167-945A>C) c.4623A>C c.8818A>C c.5984A>C (p.Lys1995Thr) c.9002A>C c.11918A>C (p.Lys3973Thr) c.2072A>C (p.Lys691Thr) c.3274A>C c.1260+359A>C c.3089A>C n.93A>C c.11792A>C (p.Lys3931Thr) n.5721A>C c.11921A>C (p.Lys3974Thr) | |
2 | g.73601240A>G | CA347265635 | ALMS1 | c.11537A>G (p.Lys3846Arg) c.11167-945A>G (n.11167-945A>G) c.4623A>G c.8818A>G c.5984A>G (p.Lys1995Arg) c.9002A>G c.11918A>G (p.Lys3973Arg) c.2072A>G (p.Lys691Arg) c.3274A>G c.1260+359A>G c.3089A>G n.93A>G c.11792A>G (p.Lys3931Arg) n.5721A>G c.11921A>G (p.Lys3974Arg) | gnomAD v4 |
2 | g.73601240A>T | CA347265637 | ALMS1 | c.11537A>T (p.Lys3846Met) c.11167-945A>T (n.11167-945A>T) c.4623A>T c.8818A>T c.5984A>T (p.Lys1995Met) c.9002A>T c.11918A>T (p.Lys3973Met) c.2072A>T (p.Lys691Met) c.3274A>T c.1260+359A>T c.3089A>T n.93A>T c.11792A>T (p.Lys3931Met) n.5721A>T c.11921A>T (p.Lys3974Met) | |
2 | g.73601241G>A | CA426783517 | ALMS1 | c.11538G>A (p.Lys3846=) c.11167-944G>A (n.11167-944G>A) c.4624G>A c.8819G>A c.5985G>A (p.Lys1995=) c.9003G>A c.11919G>A (p.Lys3973=) c.2073G>A (p.Lys691=) c.3275G>A c.1260+360G>A c.3090G>A n.94G>A c.11793G>A (p.Lys3931=) n.5722G>A c.11922G>A (p.Lys3974=) | gnomAD v4 |
2 | g.73601241G>C | CA347265641 | ALMS1 | c.11538G>C (p.Lys3846Asn) c.11167-944G>C (n.11167-944G>C) c.4624G>C c.8819G>C c.5985G>C (p.Lys1995Asn) c.9003G>C c.11919G>C (p.Lys3973Asn) c.2073G>C (p.Lys691Asn) c.3275G>C c.1260+360G>C c.3090G>C n.94G>C c.11793G>C (p.Lys3931Asn) n.5722G>C c.11922G>C (p.Lys3974Asn) | |
2 | g.73601241G>T | CA347265643 | ALMS1 | c.11538G>T (p.Lys3846Asn) c.11167-944G>T (n.11167-944G>T) c.4624G>T c.8819G>T c.5985G>T (p.Lys1995Asn) c.9003G>T c.11919G>T (p.Lys3973Asn) c.2073G>T (p.Lys691Asn) c.3275G>T c.1260+360G>T c.3090G>T n.94G>T c.11793G>T (p.Lys3931Asn) n.5722G>T c.11922G>T (p.Lys3974Asn) | |
2 | g.73601242A>C | CA347265648 | ALMS1 | c.11539A>C (p.Lys3847Gln) c.11167-943A>C (n.11167-943A>C) c.4625A>C c.8820A>C c.5986A>C (p.Lys1996Gln) c.9004A>C c.11920A>C (p.Lys3974Gln) c.2074A>C (p.Lys692Gln) c.3276A>C c.1260+361A>C c.3091A>C n.95A>C c.11794A>C (p.Lys3932Gln) n.5723A>C c.11923A>C (p.Lys3975Gln) | |
2 | g.73601242A>G | CA347265650 | ALMS1 | c.11539A>G (p.Lys3847Glu) c.11167-943A>G (n.11167-943A>G) c.4625A>G c.8820A>G c.5986A>G (p.Lys1996Glu) c.9004A>G c.11920A>G (p.Lys3974Glu) c.2074A>G (p.Lys692Glu) c.3276A>G c.1260+361A>G c.3091A>G n.95A>G c.11794A>G (p.Lys3932Glu) n.5723A>G c.11923A>G (p.Lys3975Glu) | |
2 | g.73601242A>T | CA347265652 | ALMS1 | c.11539A>T (p.Lys3847Ter) c.11167-943A>T (n.11167-943A>T) c.4625A>T c.8820A>T c.5986A>T (p.Lys1996Ter) c.9004A>T c.11920A>T (p.Lys3974Ter) c.2074A>T (p.Lys692Ter) c.3276A>T c.1260+361A>T c.3091A>T n.95A>T c.11794A>T (p.Lys3932Ter) n.5723A>T c.11923A>T (p.Lys3975Ter) | |
2 | g.73601243A= | CA1261033705 | ALMS1 | c.11540A= (p.Lys3847=) c.11167-942A= (n.11167-942A=) c.4626A= c.8821A= c.5987A= (p.Lys1996=) c.9005A= c.11921A= (p.Lys3974=) c.2075A= (p.Lys692=) c.3277A= c.1260+362A= c.3092A= n.96A= c.11795A= (p.Lys3932=) n.5724A= c.11924A= (p.Lys3975=) | |
2 | g.73601243A>C | CA347265656 | ALMS1 | c.11540A>C (p.Lys3847Thr) c.11167-942A>C (n.11167-942A>C) c.4626A>C c.8821A>C c.5987A>C (p.Lys1996Thr) c.9005A>C c.11921A>C (p.Lys3974Thr) c.2075A>C (p.Lys692Thr) c.3277A>C c.1260+362A>C c.3092A>C n.96A>C c.11795A>C (p.Lys3932Thr) n.5724A>C c.11924A>C (p.Lys3975Thr) | |
2 | g.73601243A>G | CA347265659 | ALMS1 | c.11540A>G (p.Lys3847Arg) c.11167-942A>G (n.11167-942A>G) c.4626A>G c.8821A>G c.5987A>G (p.Lys1996Arg) c.9005A>G c.11921A>G (p.Lys3974Arg) c.2075A>G (p.Lys692Arg) c.3277A>G c.1260+362A>G c.3092A>G n.96A>G c.11795A>G (p.Lys3932Arg) n.5724A>G c.11924A>G (p.Lys3975Arg) | |
2 | g.73601243A>T | CA347265662 | ALMS1 | c.11540A>T (p.Lys3847Met) c.11167-942A>T (n.11167-942A>T) c.4626A>T c.8821A>T c.5987A>T (p.Lys1996Met) c.9005A>T c.11921A>T (p.Lys3974Met) c.2075A>T (p.Lys692Met) c.3277A>T c.1260+362A>T c.3092A>T n.96A>T c.11795A>T (p.Lys3932Met) n.5724A>T c.11924A>T (p.Lys3975Met) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73601244G>A | CA426783518 | ALMS1 | c.11541G>A (p.Lys3847=) c.11167-941G>A (n.11167-941G>A) c.4627G>A c.8822G>A c.5988G>A (p.Lys1996=) c.9006G>A c.11922G>A (p.Lys3974=) c.2076G>A (p.Lys692=) c.3278G>A c.1260+363G>A c.3093G>A n.97G>A c.11796G>A (p.Lys3932=) n.5725G>A c.11925G>A (p.Lys3975=) | |
2 | g.73601244G>C | CA347265669 | ALMS1 | c.11541G>C (p.Lys3847Asn) c.11167-941G>C (n.11167-941G>C) c.4627G>C c.8822G>C c.5988G>C (p.Lys1996Asn) c.9006G>C c.11922G>C (p.Lys3974Asn) c.2076G>C (p.Lys692Asn) c.3278G>C c.1260+363G>C c.3093G>C n.97G>C c.11796G>C (p.Lys3932Asn) n.5725G>C c.11925G>C (p.Lys3975Asn) | |
2 | g.73601244G>T | CA347265665 | ALMS1 | c.11541G>T (p.Lys3847Asn) c.11167-941G>T (n.11167-941G>T) c.4627G>T c.8822G>T c.5988G>T (p.Lys1996Asn) c.9006G>T c.11922G>T (p.Lys3974Asn) c.2076G>T (p.Lys692Asn) c.3278G>T c.1260+363G>T c.3093G>T n.97G>T c.11796G>T (p.Lys3932Asn) n.5725G>T c.11925G>T (p.Lys3975Asn) | |
2 | g.73601245G>A | CA347265675 | ALMS1 | c.11542G>A (p.Glu3848Lys) c.11167-940G>A (n.11167-940G>A) c.4628G>A c.8823G>A c.5989G>A (p.Glu1997Lys) c.9007G>A c.11923G>A (p.Glu3975Lys) c.2077G>A (p.Glu693Lys) c.3279G>A c.1260+364G>A c.3094G>A n.98G>A c.11797G>A (p.Glu3933Lys) n.5726G>A c.11926G>A (p.Glu3976Lys) | ClinVar dbSNP |
2 | g.73601245G>C | CA347265677 | ALMS1 | c.11542G>C (p.Glu3848Gln) c.11167-940G>C (n.11167-940G>C) c.4628G>C c.8823G>C c.5989G>C (p.Glu1997Gln) c.9007G>C c.11923G>C (p.Glu3975Gln) c.2077G>C (p.Glu693Gln) c.3279G>C c.1260+364G>C c.3094G>C n.98G>C c.11797G>C (p.Glu3933Gln) n.5726G>C c.11926G>C (p.Glu3976Gln) | |
2 | g.73601245G= | CA1261033707 | ALMS1 | c.11542G= (p.Glu3848=) c.11167-940G= (n.11167-940G=) c.4628G= c.8823G= c.5989G= (p.Glu1997=) c.9007G= c.11923G= (p.Glu3975=) c.2077G= (p.Glu693=) c.3279G= c.1260+364G= c.3094G= n.98G= c.11797G= (p.Glu3933=) n.5726G= c.11926G= (p.Glu3976=) | |
2 | g.73601245G>T | CA347265680 | ALMS1 | c.11542G>T (p.Glu3848Ter) c.11167-940G>T (n.11167-940G>T) c.4628G>T c.8823G>T c.5989G>T (p.Glu1997Ter) c.9007G>T c.11923G>T (p.Glu3975Ter) c.2077G>T (p.Glu693Ter) c.3279G>T c.1260+364G>T c.3094G>T n.98G>T c.11797G>T (p.Glu3933Ter) n.5726G>T c.11926G>T (p.Glu3976Ter) | |
2 | g.73601246A>C | CA347265683 | ALMS1 | c.11543A>C (p.Glu3848Ala) c.11167-939A>C (n.11167-939A>C) c.4629A>C c.8824A>C c.5990A>C (p.Glu1997Ala) c.9008A>C c.11924A>C (p.Glu3975Ala) c.2078A>C (p.Glu693Ala) c.3280A>C c.1260+365A>C c.3095A>C n.99A>C c.11798A>C (p.Glu3933Ala) n.5727A>C c.11927A>C (p.Glu3976Ala) | |
2 | g.73601246A>G | CA347265686 | ALMS1 | c.11543A>G (p.Glu3848Gly) c.11167-939A>G (n.11167-939A>G) c.4629A>G c.8824A>G c.5990A>G (p.Glu1997Gly) c.9008A>G c.11924A>G (p.Glu3975Gly) c.2078A>G (p.Glu693Gly) c.3280A>G c.1260+365A>G c.3095A>G n.99A>G c.11798A>G (p.Glu3933Gly) n.5727A>G c.11927A>G (p.Glu3976Gly) | |
2 | g.73601246A>T | CA347265689 | ALMS1 | c.11543A>T (p.Glu3848Val) c.11167-939A>T (n.11167-939A>T) c.4629A>T c.8824A>T c.5990A>T (p.Glu1997Val) c.9008A>T c.11924A>T (p.Glu3975Val) c.2078A>T (p.Glu693Val) c.3280A>T c.1260+365A>T c.3095A>T n.99A>T c.11798A>T (p.Glu3933Val) n.5727A>T c.11927A>T (p.Glu3976Val) | |
2 | g.73601247A>C | CA347265694 | ALMS1 | c.11544A>C (p.Glu3848Asp) c.11167-938A>C (n.11167-938A>C) c.4630A>C c.8825A>C c.5991A>C (p.Glu1997Asp) c.9009A>C c.11925A>C (p.Glu3975Asp) c.2079A>C (p.Glu693Asp) c.3281A>C c.1260+366A>C c.3096A>C n.100A>C c.11799A>C (p.Glu3933Asp) n.5728A>C c.11928A>C (p.Glu3976Asp) | |
2 | g.73601247A>G | CA426783520 | ALMS1 | c.11544A>G (p.Glu3848=) c.11167-938A>G (n.11167-938A>G) c.4630A>G c.8825A>G c.5991A>G (p.Glu1997=) c.9009A>G c.11925A>G (p.Glu3975=) c.2079A>G (p.Glu693=) c.3281A>G c.1260+366A>G c.3096A>G n.100A>G c.11799A>G (p.Glu3933=) n.5728A>G c.11928A>G (p.Glu3976=) | gnomAD v4 |
2 | g.73601247A>T | CA347265692 | ALMS1 | c.11544A>T (p.Glu3848Asp) c.11167-938A>T (n.11167-938A>T) c.4630A>T c.8825A>T c.5991A>T (p.Glu1997Asp) c.9009A>T c.11925A>T (p.Glu3975Asp) c.2079A>T (p.Glu693Asp) c.3281A>T c.1260+366A>T c.3096A>T n.100A>T c.11799A>T (p.Glu3933Asp) n.5728A>T c.11928A>T (p.Glu3976Asp) | |
2 | g.73601247_73601248insC | CA2556513835 | ALMS1 | c.11544_11545insC (p.Asn3849GlnfsTer4) c.11167-938_11167-937insC (n.11167-938_11167-937insC) c.4630_4631insC c.8825_8826insC c.5991_5992insC (p.Asn1998GlnfsTer4) c.9009_9010insC c.11925_11926insC (p.Asn3976GlnfsTer4) c.2079_2080insC (p.Asn694GlnfsTer4) c.3281_3282insC c.1260+366_1260+367insC c.3096_3097insC n.100_101insC c.11799_11800insC (p.Asn3934GlnfsTer4) n.5728_5729insC c.11928_11929insC (p.Asn3977GlnfsTer4) | |
2 | g.73601248A>C | CA347265697 | ALMS1 | c.11545A>C (p.Asn3849His) c.11167-937A>C (n.11167-937A>C) c.4631A>C c.8826A>C c.5992A>C (p.Asn1998His) c.9010A>C c.11926A>C (p.Asn3976His) c.2080A>C (p.Asn694His) c.3282A>C c.1260+367A>C c.3097A>C n.101A>C c.11800A>C (p.Asn3934His) n.5729A>C c.11929A>C (p.Asn3977His) | |
2 | g.73601248A>G | CA347265700 | ALMS1 | c.11545A>G (p.Asn3849Asp) c.11167-937A>G (n.11167-937A>G) c.4631A>G c.8826A>G c.5992A>G (p.Asn1998Asp) c.9010A>G c.11926A>G (p.Asn3976Asp) c.2080A>G (p.Asn694Asp) c.3282A>G c.1260+367A>G c.3097A>G n.101A>G c.11800A>G (p.Asn3934Asp) n.5729A>G c.11929A>G (p.Asn3977Asp) | |
2 | g.73601248A>T | CA347265702 | ALMS1 | c.11545A>T (p.Asn3849Tyr) c.11167-937A>T (n.11167-937A>T) c.4631A>T c.8826A>T c.5992A>T (p.Asn1998Tyr) c.9010A>T c.11926A>T (p.Asn3976Tyr) c.2080A>T (p.Asn694Tyr) c.3282A>T c.1260+367A>T c.3097A>T n.101A>T c.11800A>T (p.Asn3934Tyr) n.5729A>T c.11929A>T (p.Asn3977Tyr) | |
2 | g.73601248_73601249insCAGATTTTTC | CA2548958158 | ALMS1 | c.11545_11546insCAGATTTTTC (p.Asn3849ThrfsTer7) c.11167-937_11167-936insCAGATTTTTC (n.11167-937_11167-936insCAGATTTTTC) c.4631_4632insCAGATTTTTC c.8826_8827insCAGATTTTTC c.5992_5993insCAGATTTTTC (p.Asn1998ThrfsTer7) c.9010_9011insCAGATTTTTC c.11926_11927insCAGATTTTTC (p.Asn3976ThrfsTer7) c.2080_2081insCAGATTTTTC (p.Asn694ThrfsTer7) c.3282_3283insCAGATTTTTC c.1260+367_1260+368insCAGATTTTTC c.3097_3098insCAGATTTTTC n.101_102insCAGATTTTTC c.11800_11801insCAGATTTTTC (p.Asn3934ThrfsTer7) n.5729_5730insCAGATTTTTC c.11929_11930insCAGATTTTTC (p.Asn3977ThrfsTer7) | |
2 | g.73601249A>C | CA347265706 | ALMS1 | c.11546A>C (p.Asn3849Thr) c.11167-936A>C (n.11167-936A>C) c.4632A>C c.8827A>C c.5993A>C (p.Asn1998Thr) c.9011A>C c.11927A>C (p.Asn3976Thr) c.2081A>C (p.Asn694Thr) c.3283A>C c.1260+368A>C c.3098A>C n.102A>C c.11801A>C (p.Asn3934Thr) n.5730A>C c.11930A>C (p.Asn3977Thr) | |
2 | g.73601249A>G | CA347265709 | ALMS1 | c.11546A>G (p.Asn3849Ser) c.11167-936A>G (n.11167-936A>G) c.4632A>G c.8827A>G c.5993A>G (p.Asn1998Ser) c.9011A>G c.11927A>G (p.Asn3976Ser) c.2081A>G (p.Asn694Ser) c.3283A>G c.1260+368A>G c.3098A>G n.102A>G c.11801A>G (p.Asn3934Ser) n.5730A>G c.11930A>G (p.Asn3977Ser) | |
2 | g.73601249A>T | CA347265711 | ALMS1 | c.11546A>T (p.Asn3849Ile) c.11167-936A>T (n.11167-936A>T) c.4632A>T c.8827A>T c.5993A>T (p.Asn1998Ile) c.9011A>T c.11927A>T (p.Asn3976Ile) c.2081A>T (p.Asn694Ile) c.3283A>T c.1260+368A>T c.3098A>T n.102A>T c.11801A>T (p.Asn3934Ile) n.5730A>T c.11930A>T (p.Asn3977Ile) | |
2 | g.73601250C>A | CA1715382 | ALMS1 | c.11547C>A (p.Asn3849Lys) c.11167-935C>A (n.11167-935C>A) c.4633C>A c.8828C>A c.5994C>A (p.Asn1998Lys) c.9012C>A c.11928C>A (p.Asn3976Lys) c.2082C>A (p.Asn694Lys) c.3284C>A c.1260+369C>A c.3099C>A n.103C>A c.11802C>A (p.Asn3934Lys) n.5731C>A c.11931C>A (p.Asn3977Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73601250C= | CA1261033711 | ALMS1 | c.11547C= (p.Asn3849=) c.11167-935C= (n.11167-935C=) c.4633C= c.8828C= c.5994C= (p.Asn1998=) c.9012C= c.11928C= (p.Asn3976=) c.2082C= (p.Asn694=) c.3284C= c.1260+369C= c.3099C= n.103C= c.11802C= (p.Asn3934=) n.5731C= c.11931C= (p.Asn3977=) | |
2 | g.73601250C>G | CA347265719 | ALMS1 | c.11547C>G (p.Asn3849Lys) c.11167-935C>G (n.11167-935C>G) c.4633C>G c.8828C>G c.5994C>G (p.Asn1998Lys) c.9012C>G c.11928C>G (p.Asn3976Lys) c.2082C>G (p.Asn694Lys) c.3284C>G c.1260+369C>G c.3099C>G n.103C>G c.11802C>G (p.Asn3934Lys) n.5731C>G c.11931C>G (p.Asn3977Lys) | |
2 | g.73601250C>T | CA1715381 | ALMS1 | c.11547C>T (p.Asn3849=) c.11167-935C>T (n.11167-935C>T) c.4633C>T c.8828C>T c.5994C>T (p.Asn1998=) c.9012C>T c.11928C>T (p.Asn3976=) c.2082C>T (p.Asn694=) c.3284C>T c.1260+369C>T c.3099C>T n.103C>T c.11802C>T (p.Asn3934=) n.5731C>T c.11931C>T (p.Asn3977=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601251G>A | CA1715383 | ALMS1 | c.11548G>A (p.Val3850Met) c.11167-934G>A (n.11167-934G>A) c.4634G>A c.8829G>A c.5995G>A (p.Val1999Met) c.9013G>A c.11929G>A (p.Val3977Met) c.2083G>A (p.Val695Met) c.3285G>A c.1260+370G>A c.3100G>A n.104G>A c.11803G>A (p.Val3935Met) n.5732G>A c.11932G>A (p.Val3978Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601251G>C | CA347265726 | ALMS1 | c.11548G>C (p.Val3850Leu) c.11167-934G>C (n.11167-934G>C) c.4634G>C c.8829G>C c.5995G>C (p.Val1999Leu) c.9013G>C c.11929G>C (p.Val3977Leu) c.2083G>C (p.Val695Leu) c.3285G>C c.1260+370G>C c.3100G>C n.104G>C c.11803G>C (p.Val3935Leu) n.5732G>C c.11932G>C (p.Val3978Leu) | |
2 | g.73601251G= | CA1261033715 | ALMS1 | c.11548G= (p.Val3850=) c.11167-934G= (n.11167-934G=) c.4634G= c.8829G= c.5995G= (p.Val1999=) c.9013G= c.11929G= (p.Val3977=) c.2083G= (p.Val695=) c.3285G= c.1260+370G= c.3100G= n.104G= c.11803G= (p.Val3935=) n.5732G= c.11932G= (p.Val3978=) | |
2 | g.73601251G>T | CA347265728 | ALMS1 | c.11548G>T (p.Val3850Leu) c.11167-934G>T (n.11167-934G>T) c.4634G>T c.8829G>T c.5995G>T (p.Val1999Leu) c.9013G>T c.11929G>T (p.Val3977Leu) c.2083G>T (p.Val695Leu) c.3285G>T c.1260+370G>T c.3100G>T n.104G>T c.11803G>T (p.Val3935Leu) n.5732G>T c.11932G>T (p.Val3978Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73601252T>A | CA347265731 | ALMS1 | c.11549T>A (p.Val3850Glu) c.11167-933T>A (n.11167-933T>A) c.4635T>A c.8830T>A c.5996T>A (p.Val1999Glu) c.9014T>A c.11930T>A (p.Val3977Glu) c.2084T>A (p.Val695Glu) c.3286T>A c.1260+371T>A c.3101T>A n.105T>A c.11804T>A (p.Val3935Glu) n.5733T>A c.11933T>A (p.Val3978Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73601252T>C | CA347265735 | ALMS1 | c.11549T>C (p.Val3850Ala) c.11167-933T>C (n.11167-933T>C) c.4635T>C c.8830T>C c.5996T>C (p.Val1999Ala) c.9014T>C c.11930T>C (p.Val3977Ala) c.2084T>C (p.Val695Ala) c.3286T>C c.1260+371T>C c.3101T>C n.105T>C c.11804T>C (p.Val3935Ala) n.5733T>C c.11933T>C (p.Val3978Ala) | |
2 | g.73601252T>G | CA347265737 | ALMS1 | c.11549T>G (p.Val3850Gly) c.11167-933T>G (n.11167-933T>G) c.4635T>G c.8830T>G c.5996T>G (p.Val1999Gly) c.9014T>G c.11930T>G (p.Val3977Gly) c.2084T>G (p.Val695Gly) c.3286T>G c.1260+371T>G c.3101T>G n.105T>G c.11804T>G (p.Val3935Gly) n.5733T>G c.11933T>G (p.Val3978Gly) | |
2 | g.73601252T= | CA1261033718 | ALMS1 | c.11549T= (p.Val3850=) c.11167-933T= (n.11167-933T=) c.4635T= c.8830T= c.5996T= (p.Val1999=) c.9014T= c.11930T= (p.Val3977=) c.2084T= (p.Val695=) c.3286T= c.1260+371T= c.3101T= n.105T= c.11804T= (p.Val3935=) n.5733T= c.11933T= (p.Val3978=) | |
2 | g.73601253G>A | CA1715384 | ALMS1 | c.11550G>A (p.Val3850=) c.11167-932G>A (n.11167-932G>A) c.4636G>A c.8831G>A c.5997G>A (p.Val1999=) c.9015G>A c.11931G>A (p.Val3977=) c.2085G>A (p.Val695=) c.3287G>A c.1260+372G>A c.3102G>A n.106G>A c.11805G>A (p.Val3935=) n.5734G>A c.11934G>A (p.Val3978=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73601253G>C | CA426783521 | ALMS1 | c.11550G>C (p.Val3850=) c.11167-932G>C (n.11167-932G>C) c.4636G>C c.8831G>C c.5997G>C (p.Val1999=) c.9015G>C c.11931G>C (p.Val3977=) c.2085G>C (p.Val695=) c.3287G>C c.1260+372G>C c.3102G>C n.106G>C c.11805G>C (p.Val3935=) n.5734G>C c.11934G>C (p.Val3978=) | |
2 | g.73601253G= | CA1261033721 | ALMS1 | c.11550G= (p.Val3850=) c.11167-932G= (n.11167-932G=) c.4636G= c.8831G= c.5997G= (p.Val1999=) c.9015G= c.11931G= (p.Val3977=) c.2085G= (p.Val695=) c.3287G= c.1260+372G= c.3102G= n.106G= c.11805G= (p.Val3935=) n.5734G= c.11934G= (p.Val3978=) | |
2 | g.73601253G>T | CA426783522 | ALMS1 | c.11550G>T (p.Val3850=) c.11167-932G>T (n.11167-932G>T) c.4636G>T c.8831G>T c.5997G>T (p.Val1999=) c.9015G>T c.11931G>T (p.Val3977=) c.2085G>T (p.Val695=) c.3287G>T c.1260+372G>T c.3102G>T n.106G>T c.11805G>T (p.Val3935=) n.5734G>T c.11934G>T (p.Val3978=) | gnomAD v4 |
2 | g.73601254C>A | CA347265743 | ALMS1 | c.11551C>A (p.Pro3851Thr) c.11167-931C>A (n.11167-931C>A) c.4637C>A c.8832C>A c.5998C>A (p.Pro2000Thr) c.9016C>A c.11932C>A (p.Pro3978Thr) c.2086C>A (p.Pro696Thr) c.3288C>A c.1260+373C>A c.3103C>A n.107C>A c.11806C>A (p.Pro3936Thr) n.5735C>A c.11935C>A (p.Pro3979Thr) | |
2 | g.73601254C>G | CA347265748 | ALMS1 | c.11551C>G (p.Pro3851Ala) c.11167-931C>G (n.11167-931C>G) c.4637C>G c.8832C>G c.5998C>G (p.Pro2000Ala) c.9016C>G c.11932C>G (p.Pro3978Ala) c.2086C>G (p.Pro696Ala) c.3288C>G c.1260+373C>G c.3103C>G n.107C>G c.11806C>G (p.Pro3936Ala) n.5735C>G c.11935C>G (p.Pro3979Ala) | |
2 | g.73601254C>T | CA347265745 | ALMS1 | c.11551C>T (p.Pro3851Ser) c.11167-931C>T (n.11167-931C>T) c.4637C>T c.8832C>T c.5998C>T (p.Pro2000Ser) c.9016C>T c.11932C>T (p.Pro3978Ser) c.2086C>T (p.Pro696Ser) c.3288C>T c.1260+373C>T c.3103C>T n.107C>T c.11806C>T (p.Pro3936Ser) n.5735C>T c.11935C>T (p.Pro3979Ser) | dbSNP |
2 | g.73601255C>A | CA1715385 | ALMS1 | c.11552C>A (p.Pro3851His) c.11167-930C>A (n.11167-930C>A) c.4638C>A c.8833C>A c.5999C>A (p.Pro2000His) c.9017C>A c.11933C>A (p.Pro3978His) c.2087C>A (p.Pro696His) c.3289C>A c.1260+374C>A c.3104C>A n.108C>A c.11807C>A (p.Pro3936His) n.5736C>A c.11936C>A (p.Pro3979His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601255C= | CA1261033725 | ALMS1 | c.11552C= (p.Pro3851=) c.11167-930C= (n.11167-930C=) c.4638C= c.8833C= c.5999C= (p.Pro2000=) c.9017C= c.11933C= (p.Pro3978=) c.2087C= (p.Pro696=) c.3289C= c.1260+374C= c.3104C= n.108C= c.11807C= (p.Pro3936=) n.5736C= c.11936C= (p.Pro3979=) | |
2 | g.73601255C>G | CA347265754 | ALMS1 | c.11552C>G (p.Pro3851Arg) c.11167-930C>G (n.11167-930C>G) c.4638C>G c.8833C>G c.5999C>G (p.Pro2000Arg) c.9017C>G c.11933C>G (p.Pro3978Arg) c.2087C>G (p.Pro696Arg) c.3289C>G c.1260+374C>G c.3104C>G n.108C>G c.11807C>G (p.Pro3936Arg) n.5736C>G c.11936C>G (p.Pro3979Arg) | |
2 | g.73601255C>T | CA347265756 | ALMS1 | c.11552C>T (p.Pro3851Leu) c.11167-930C>T (n.11167-930C>T) c.4638C>T c.8833C>T c.5999C>T (p.Pro2000Leu) c.9017C>T c.11933C>T (p.Pro3978Leu) c.2087C>T (p.Pro696Leu) c.3289C>T c.1260+374C>T c.3104C>T n.108C>T c.11807C>T (p.Pro3936Leu) n.5736C>T c.11936C>T (p.Pro3979Leu) | ClinVar |
2 | g.73601256T>A | CA426783523 | ALMS1 | c.11553T>A (p.Pro3851=) c.11167-929T>A (n.11167-929T>A) c.4639T>A c.8834T>A c.6000T>A (p.Pro2000=) c.9018T>A c.11934T>A (p.Pro3978=) c.2088T>A (p.Pro696=) c.3290T>A c.1260+375T>A c.3105T>A n.109T>A c.11808T>A (p.Pro3936=) n.5737T>A c.11937T>A (p.Pro3979=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73601256T>C | CA426783524 | ALMS1 | c.11553T>C (p.Pro3851=) c.11167-929T>C (n.11167-929T>C) c.4639T>C c.8834T>C c.6000T>C (p.Pro2000=) c.9018T>C c.11934T>C (p.Pro3978=) c.2088T>C (p.Pro696=) c.3290T>C c.1260+375T>C c.3105T>C n.109T>C c.11808T>C (p.Pro3936=) n.5737T>C c.11937T>C (p.Pro3979=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.73601256T>G | CA1715386 | ALMS1 | c.11553T>G (p.Pro3851=) c.11167-929T>G (n.11167-929T>G) c.4639T>G c.8834T>G c.6000T>G (p.Pro2000=) c.9018T>G c.11934T>G (p.Pro3978=) c.2088T>G (p.Pro696=) c.3290T>G c.1260+375T>G c.3105T>G n.109T>G c.11808T>G (p.Pro3936=) n.5737T>G c.11937T>G (p.Pro3979=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73601256T= | CA1261033731 | ALMS1 | c.11553T= (p.Pro3851=) c.11167-929T= (n.11167-929T=) c.4639T= c.8834T= c.6000T= (p.Pro2000=) c.9018T= c.11934T= (p.Pro3978=) c.2088T= (p.Pro696=) c.3290T= c.1260+375T= c.3105T= n.109T= c.11808T= (p.Pro3936=) n.5737T= c.11937T= (p.Pro3979=) | |
2 | g.73601257A>C | CA347265764 | ALMS1 | c.11554A>C (p.Asn3852His) c.11167-928A>C (n.11167-928A>C) c.4640A>C c.8835A>C c.6001A>C (p.Asn2001His) c.9019A>C c.11935A>C (p.Asn3979His) c.2089A>C (p.Asn697His) c.3291A>C c.1260+376A>C c.3106A>C n.110A>C c.11809A>C (p.Asn3937His) n.5738A>C c.11938A>C (p.Asn3980His) | |
2 | g.73601257A>G | CA347265770 | ALMS1 | c.11554A>G (p.Asn3852Asp) c.11167-928A>G (n.11167-928A>G) c.4640A>G c.8835A>G c.6001A>G (p.Asn2001Asp) c.9019A>G c.11935A>G (p.Asn3979Asp) c.2089A>G (p.Asn697Asp) c.3291A>G c.1260+376A>G c.3106A>G n.110A>G c.11809A>G (p.Asn3937Asp) n.5738A>G c.11938A>G (p.Asn3980Asp) | |
2 | g.73601257A>T | CA347265767 | ALMS1 | c.11554A>T (p.Asn3852Tyr) c.11167-928A>T (n.11167-928A>T) c.4640A>T c.8835A>T c.6001A>T (p.Asn2001Tyr) c.9019A>T c.11935A>T (p.Asn3979Tyr) c.2089A>T (p.Asn697Tyr) c.3291A>T c.1260+376A>T c.3106A>T n.110A>T c.11809A>T (p.Asn3937Tyr) n.5738A>T c.11938A>T (p.Asn3980Tyr) | dbSNP |
2 | g.73601258A= | CA1261033739 | ALMS1 | c.11555A= (p.Asn3852=) c.11167-927A= (n.11167-927A=) c.4641A= c.8836A= c.6002A= (p.Asn2001=) c.9020A= c.11936A= (p.Asn3979=) c.2090A= (p.Asn697=) c.3292A= c.1260+377A= c.3107A= n.111A= c.11810A= (p.Asn3937=) n.5739A= c.11939A= (p.Asn3980=) | |
2 | g.73601258A>C | CA347265775 | ALMS1 | c.11555A>C (p.Asn3852Thr) c.11167-927A>C (n.11167-927A>C) c.4641A>C c.8836A>C c.6002A>C (p.Asn2001Thr) c.9020A>C c.11936A>C (p.Asn3979Thr) c.2090A>C (p.Asn697Thr) c.3292A>C c.1260+377A>C c.3107A>C n.111A>C c.11810A>C (p.Asn3937Thr) n.5739A>C c.11939A>C (p.Asn3980Thr) | |
2 | g.73601258A>G | CA1715387 | ALMS1 | c.11555A>G (p.Asn3852Ser) c.11167-927A>G (n.11167-927A>G) c.4641A>G c.8836A>G c.6002A>G (p.Asn2001Ser) c.9020A>G c.11936A>G (p.Asn3979Ser) c.2090A>G (p.Asn697Ser) c.3292A>G c.1260+377A>G c.3107A>G n.111A>G c.11810A>G (p.Asn3937Ser) n.5739A>G c.11939A>G (p.Asn3980Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73601258A>T | CA347265781 | ALMS1 | c.11555A>T (p.Asn3852Ile) c.11167-927A>T (n.11167-927A>T) c.4641A>T c.8836A>T c.6002A>T (p.Asn2001Ile) c.9020A>T c.11936A>T (p.Asn3979Ile) c.2090A>T (p.Asn697Ile) c.3292A>T c.1260+377A>T c.3107A>T n.111A>T c.11810A>T (p.Asn3937Ile) n.5739A>T c.11939A>T (p.Asn3980Ile) | |
2 | g.73601259C>A | CA347265785 | ALMS1 | c.11556C>A (p.Asn3852Lys) c.11167-926C>A (n.11167-926C>A) c.4642C>A c.8837C>A c.6003C>A (p.Asn2001Lys) c.9021C>A c.11937C>A (p.Asn3979Lys) c.2091C>A (p.Asn697Lys) c.3293C>A c.1260+378C>A c.3108C>A n.112C>A c.11811C>A (p.Asn3937Lys) n.5740C>A c.11940C>A (p.Asn3980Lys) | gnomAD v4 |
2 | g.73601259C= | CA1261033742 | ALMS1 | c.11556C= (p.Asn3852=) c.11167-926C= (n.11167-926C=) c.4642C= c.8837C= c.6003C= (p.Asn2001=) c.9021C= c.11937C= (p.Asn3979=) c.2091C= (p.Asn697=) c.3293C= c.1260+378C= c.3108C= n.112C= c.11811C= (p.Asn3937=) n.5740C= c.11940C= (p.Asn3980=) | |
2 | g.73601259C>G | CA347265787 | ALMS1 | c.11556C>G (p.Asn3852Lys) c.11167-926C>G (n.11167-926C>G) c.4642C>G c.8837C>G c.6003C>G (p.Asn2001Lys) c.9021C>G c.11937C>G (p.Asn3979Lys) c.2091C>G (p.Asn697Lys) c.3293C>G c.1260+378C>G c.3108C>G n.112C>G c.11811C>G (p.Asn3937Lys) n.5740C>G c.11940C>G (p.Asn3980Lys) | gnomAD v4 |
2 | g.73601259C>T | CA426783525 | ALMS1 | c.11556C>T (p.Asn3852=) c.11167-926C>T (n.11167-926C>T) c.4642C>T c.8837C>T c.6003C>T (p.Asn2001=) c.9021C>T c.11937C>T (p.Asn3979=) c.2091C>T (p.Asn697=) c.3293C>T c.1260+378C>T c.3108C>T n.112C>T c.11811C>T (p.Asn3937=) n.5740C>T c.11940C>T (p.Asn3980=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73601260A>C | CA347265791 | ALMS1 | c.11557A>C (p.Thr3853Pro) c.11167-925A>C (n.11167-925A>C) c.4643A>C c.8838A>C c.6004A>C (p.Thr2002Pro) c.9022A>C c.11938A>C (p.Thr3980Pro) c.2092A>C (p.Thr698Pro) c.3294A>C c.1260+379A>C c.3109A>C n.113A>C c.11812A>C (p.Thr3938Pro) n.5741A>C c.11941A>C (p.Thr3981Pro) | |
2 | g.73601260A>G | CA347265794 | ALMS1 | c.11557A>G (p.Thr3853Ala) c.11167-925A>G (n.11167-925A>G) c.4643A>G c.8838A>G c.6004A>G (p.Thr2002Ala) c.9022A>G c.11938A>G (p.Thr3980Ala) c.2092A>G (p.Thr698Ala) c.3294A>G c.1260+379A>G c.3109A>G n.113A>G c.11812A>G (p.Thr3938Ala) n.5741A>G c.11941A>G (p.Thr3981Ala) | gnomAD v4 |
2 | g.73601260A>T | CA347265798 | ALMS1 | c.11557A>T (p.Thr3853Ser) c.11167-925A>T (n.11167-925A>T) c.4643A>T c.8838A>T c.6004A>T (p.Thr2002Ser) c.9022A>T c.11938A>T (p.Thr3980Ser) c.2092A>T (p.Thr698Ser) c.3294A>T c.1260+379A>T c.3109A>T n.113A>T c.11812A>T (p.Thr3938Ser) n.5741A>T c.11941A>T (p.Thr3981Ser) | |
2 | g.73601261C>A | CA347265803 | ALMS1 | c.11558C>A (p.Thr3853Asn) c.11167-924C>A (n.11167-924C>A) c.4644C>A c.8839C>A c.6005C>A (p.Thr2002Asn) c.9023C>A c.11939C>A (p.Thr3980Asn) c.2093C>A (p.Thr698Asn) c.3295C>A c.1260+380C>A c.3110C>A n.114C>A c.11813C>A (p.Thr3938Asn) n.5742C>A c.11942C>A (p.Thr3981Asn) | |
2 | g.73601261C= | CA1261033747 | ALMS1 | c.11558C= (p.Thr3853=) c.11167-924C= (n.11167-924C=) c.4644C= c.8839C= c.6005C= (p.Thr2002=) c.9023C= c.11939C= (p.Thr3980=) c.2093C= (p.Thr698=) c.3295C= c.1260+380C= c.3110C= n.114C= c.11813C= (p.Thr3938=) n.5742C= c.11942C= (p.Thr3981=) | |
2 | g.73601261C>G | CA347265806 | ALMS1 | c.11558C>G (p.Thr3853Ser) c.11167-924C>G (n.11167-924C>G) c.4644C>G c.8839C>G c.6005C>G (p.Thr2002Ser) c.9023C>G c.11939C>G (p.Thr3980Ser) c.2093C>G (p.Thr698Ser) c.3295C>G c.1260+380C>G c.3110C>G n.114C>G c.11813C>G (p.Thr3938Ser) n.5742C>G c.11942C>G (p.Thr3981Ser) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.73601261C>T | CA1715388 | ALMS1 | c.11558C>T (p.Thr3853Ile) c.11167-924C>T (n.11167-924C>T) c.4644C>T c.8839C>T c.6005C>T (p.Thr2002Ile) c.9023C>T c.11939C>T (p.Thr3980Ile) c.2093C>T (p.Thr698Ile) c.3295C>T c.1260+380C>T c.3110C>T n.114C>T c.11813C>T (p.Thr3938Ile) n.5742C>T c.11942C>T (p.Thr3981Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601262T>A | CA426783528 | ALMS1 | c.11559T>A (p.Thr3853=) c.11167-923T>A (n.11167-923T>A) c.4645T>A c.8840T>A c.6006T>A (p.Thr2002=) c.9024T>A c.11940T>A (p.Thr3980=) c.2094T>A (p.Thr698=) c.3296T>A c.1260+381T>A c.3111T>A n.115T>A c.11814T>A (p.Thr3938=) n.5743T>A c.11943T>A (p.Thr3981=) | ClinVar dbSNP gnomAD v4 |
2 | g.73601262T>C | CA426783527 | ALMS1 | c.11559T>C (p.Thr3853=) c.11167-923T>C (n.11167-923T>C) c.4645T>C c.8840T>C c.6006T>C (p.Thr2002=) c.9024T>C c.11940T>C (p.Thr3980=) c.2094T>C (p.Thr698=) c.3296T>C c.1260+381T>C c.3111T>C n.115T>C c.11814T>C (p.Thr3938=) n.5743T>C c.11943T>C (p.Thr3981=) | ClinVar dbSNP gnomAD v4 |
2 | g.73601262T>G | CA426783526 | ALMS1 | c.11559T>G (p.Thr3853=) c.11167-923T>G (n.11167-923T>G) c.4645T>G c.8840T>G c.6006T>G (p.Thr2002=) c.9024T>G c.11940T>G (p.Thr3980=) c.2094T>G (p.Thr698=) c.3296T>G c.1260+381T>G c.3111T>G n.115T>G c.11814T>G (p.Thr3938=) n.5743T>G c.11943T>G (p.Thr3981=) | ClinVar dbSNP |
2 | g.73601262T= | CA1261033753 | ALMS1 | c.11559T= (p.Thr3853=) c.11167-923T= (n.11167-923T=) c.4645T= c.8840T= c.6006T= (p.Thr2002=) c.9024T= c.11940T= (p.Thr3980=) c.2094T= (p.Thr698=) c.3296T= c.1260+381T= c.3111T= n.115T= c.11814T= (p.Thr3938=) n.5743T= c.11943T= (p.Thr3981=) | |
2 | g.73601263T>A | CA347265821 | ALMS1 | c.11560T>A (p.Cys3854Ser) c.11167-922T>A (n.11167-922T>A) c.4646T>A c.8841T>A c.6007T>A (p.Cys2003Ser) c.9025T>A c.11941T>A (p.Cys3981Ser) c.2095T>A (p.Cys699Ser) c.3297T>A c.1260+382T>A c.3112T>A n.116T>A c.11815T>A (p.Cys3939Ser) n.5744T>A c.11944T>A (p.Cys3982Ser) | |
2 | g.73601263T>C | CA347265817 | ALMS1 | c.11560T>C (p.Cys3854Arg) c.11167-922T>C (n.11167-922T>C) c.4646T>C c.8841T>C c.6007T>C (p.Cys2003Arg) c.9025T>C c.11941T>C (p.Cys3981Arg) c.2095T>C (p.Cys699Arg) c.3297T>C c.1260+382T>C c.3112T>C n.116T>C c.11815T>C (p.Cys3939Arg) n.5744T>C c.11944T>C (p.Cys3982Arg) | |
2 | g.73601263T>G | CA347265814 | ALMS1 | c.11560T>G (p.Cys3854Gly) c.11167-922T>G (n.11167-922T>G) c.4646T>G c.8841T>G c.6007T>G (p.Cys2003Gly) c.9025T>G c.11941T>G (p.Cys3981Gly) c.2095T>G (p.Cys699Gly) c.3297T>G c.1260+382T>G c.3112T>G n.116T>G c.11815T>G (p.Cys3939Gly) n.5744T>G c.11944T>G (p.Cys3982Gly) | |
2 | g.73601264G>A | CA347265826 | ALMS1 | c.11561G>A (p.Cys3854Tyr) c.11167-921G>A (n.11167-921G>A) c.4647G>A c.8842G>A c.6008G>A (p.Cys2003Tyr) c.9026G>A c.11942G>A (p.Cys3981Tyr) c.2096G>A (p.Cys699Tyr) c.3298G>A c.1260+383G>A c.3113G>A n.117G>A c.11816G>A (p.Cys3939Tyr) n.5745G>A c.11945G>A (p.Cys3982Tyr) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73601264G>C | CA347265823 | ALMS1 | c.11561G>C (p.Cys3854Ser) c.11167-921G>C (n.11167-921G>C) c.4647G>C c.8842G>C c.6008G>C (p.Cys2003Ser) c.9026G>C c.11942G>C (p.Cys3981Ser) c.2096G>C (p.Cys699Ser) c.3298G>C c.1260+383G>C c.3113G>C n.117G>C c.11816G>C (p.Cys3939Ser) n.5745G>C c.11945G>C (p.Cys3982Ser) | |
2 | g.73601264G= | CA1261033755 | ALMS1 | c.11561G= (p.Cys3854=) c.11167-921G= (n.11167-921G=) c.4647G= c.8842G= c.6008G= (p.Cys2003=) c.9026G= c.11942G= (p.Cys3981=) c.2096G= (p.Cys699=) c.3298G= c.1260+383G= c.3113G= n.117G= c.11816G= (p.Cys3939=) n.5745G= c.11945G= (p.Cys3982=) | |
2 | g.73601264G>T | CA347265829 | ALMS1 | c.11561G>T (p.Cys3854Phe) c.11167-921G>T (n.11167-921G>T) c.4647G>T c.8842G>T c.6008G>T (p.Cys2003Phe) c.9026G>T c.11942G>T (p.Cys3981Phe) c.2096G>T (p.Cys699Phe) c.3298G>T c.1260+383G>T c.3113G>T n.117G>T c.11816G>T (p.Cys3939Phe) n.5745G>T c.11945G>T (p.Cys3982Phe) | |
2 | g.73601265T>A | CA347265832 | ALMS1 | c.11562T>A (p.Cys3854Ter) c.11167-920T>A (n.11167-920T>A) c.4648T>A c.8843T>A c.6009T>A (p.Cys2003Ter) c.9027T>A c.11943T>A (p.Cys3981Ter) c.2097T>A (p.Cys699Ter) c.3299T>A c.1260+384T>A c.3114T>A n.118T>A c.11817T>A (p.Cys3939Ter) n.5746T>A c.11946T>A (p.Cys3982Ter) | ClinVar |
2 | g.73601265T>C | CA426783529 | ALMS1 | c.11562T>C (p.Cys3854=) c.11167-920T>C (n.11167-920T>C) c.4648T>C c.8843T>C c.6009T>C (p.Cys2003=) c.9027T>C c.11943T>C (p.Cys3981=) c.2097T>C (p.Cys699=) c.3299T>C c.1260+384T>C c.3114T>C n.118T>C c.11817T>C (p.Cys3939=) n.5746T>C c.11946T>C (p.Cys3982=) | |
2 | g.73601265T>G | CA347265836 | ALMS1 | c.11562T>G (p.Cys3854Trp) c.11167-920T>G (n.11167-920T>G) c.4648T>G c.8843T>G c.6009T>G (p.Cys2003Trp) c.9027T>G c.11943T>G (p.Cys3981Trp) c.2097T>G (p.Cys699Trp) c.3299T>G c.1260+384T>G c.3114T>G n.118T>G c.11817T>G (p.Cys3939Trp) n.5746T>G c.11946T>G (p.Cys3982Trp) | |
2 | g.73601266G>A | CA347265840 | ALMS1 | c.11563G>A (p.Gly3855Ser) c.11167-919G>A (n.11167-919G>A) c.4649G>A c.8844G>A c.6010G>A (p.Gly2004Ser) c.9028G>A c.11944G>A (p.Gly3982Ser) c.2098G>A (p.Gly700Ser) c.3300G>A c.1260+385G>A c.3115G>A n.119G>A c.11818G>A (p.Gly3940Ser) n.5747G>A c.11947G>A (p.Gly3983Ser) | |
2 | g.73601266G>C | CA347265843 | ALMS1 | c.11563G>C (p.Gly3855Arg) c.11167-919G>C (n.11167-919G>C) c.4649G>C c.8844G>C c.6010G>C (p.Gly2004Arg) c.9028G>C c.11944G>C (p.Gly3982Arg) c.2098G>C (p.Gly700Arg) c.3300G>C c.1260+385G>C c.3115G>C n.119G>C c.11818G>C (p.Gly3940Arg) n.5747G>C c.11947G>C (p.Gly3983Arg) | gnomAD v4 |
2 | g.73601266G>T | CA347265845 | ALMS1 | c.11563G>T (p.Gly3855Cys) c.11167-919G>T (n.11167-919G>T) c.4649G>T c.8844G>T c.6010G>T (p.Gly2004Cys) c.9028G>T c.11944G>T (p.Gly3982Cys) c.2098G>T (p.Gly700Cys) c.3300G>T c.1260+385G>T c.3115G>T n.119G>T c.11818G>T (p.Gly3940Cys) n.5747G>T c.11947G>T (p.Gly3983Cys) | |
2 | g.73601267G>A | CA347265847 | ALMS1 | c.11564G>A (p.Gly3855Asp) c.11167-918G>A (n.11167-918G>A) c.4650G>A c.8845G>A c.6011G>A (p.Gly2004Asp) c.9029G>A c.11945G>A (p.Gly3982Asp) c.2099G>A (p.Gly700Asp) c.3301G>A c.1260+386G>A c.3116G>A n.120G>A c.11819G>A (p.Gly3940Asp) n.5748G>A c.11948G>A (p.Gly3983Asp) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.73601267G>C | CA347265850 | ALMS1 | c.11564G>C (p.Gly3855Ala) c.11167-918G>C (n.11167-918G>C) c.4650G>C c.8845G>C c.6011G>C (p.Gly2004Ala) c.9029G>C c.11945G>C (p.Gly3982Ala) c.2099G>C (p.Gly700Ala) c.3301G>C c.1260+386G>C c.3116G>C n.120G>C c.11819G>C (p.Gly3940Ala) n.5748G>C c.11948G>C (p.Gly3983Ala) | |
2 | g.73601267G= | CA1261033760 | ALMS1 | c.11564G= (p.Gly3855=) c.11167-918G= (n.11167-918G=) c.4650G= c.8845G= c.6011G= (p.Gly2004=) c.9029G= c.11945G= (p.Gly3982=) c.2099G= (p.Gly700=) c.3301G= c.1260+386G= c.3116G= n.120G= c.11819G= (p.Gly3940=) n.5748G= c.11948G= (p.Gly3983=) | |
2 | g.73601267G>T | CA347265853 | ALMS1 | c.11564G>T (p.Gly3855Val) c.11167-918G>T (n.11167-918G>T) c.4650G>T c.8845G>T c.6011G>T (p.Gly2004Val) c.9029G>T c.11945G>T (p.Gly3982Val) c.2099G>T (p.Gly700Val) c.3301G>T c.1260+386G>T c.3116G>T n.120G>T c.11819G>T (p.Gly3940Val) n.5748G>T c.11948G>T (p.Gly3983Val) | |
2 | g.73601268C>A | CA426783530 | ALMS1 | c.11565C>A (p.Gly3855=) c.11167-917C>A (n.11167-917C>A) c.4651C>A c.8846C>A c.6012C>A (p.Gly2004=) c.9030C>A c.11946C>A (p.Gly3982=) c.2100C>A (p.Gly700=) c.3302C>A c.1260+387C>A c.3117C>A n.121C>A c.11820C>A (p.Gly3940=) n.5749C>A c.11949C>A (p.Gly3983=) | |
2 | g.73601268C>G | CA426783531 | ALMS1 | c.11565C>G (p.Gly3855=) c.11167-917C>G (n.11167-917C>G) c.4651C>G c.8846C>G c.6012C>G (p.Gly2004=) c.9030C>G c.11946C>G (p.Gly3982=) c.2100C>G (p.Gly700=) c.3302C>G c.1260+387C>G c.3117C>G n.121C>G c.11820C>G (p.Gly3940=) n.5749C>G c.11949C>G (p.Gly3983=) | |
2 | g.73601268C>T | CA426783532 | ALMS1 | c.11565C>T (p.Gly3855=) c.11167-917C>T (n.11167-917C>T) c.4651C>T c.8846C>T c.6012C>T (p.Gly2004=) c.9030C>T c.11946C>T (p.Gly3982=) c.2100C>T (p.Gly700=) c.3302C>T c.1260+387C>T c.3117C>T n.121C>T c.11820C>T (p.Gly3940=) n.5749C>T c.11949C>T (p.Gly3983=) | |
2 | g.73601269C>A | CA347265857 | ALMS1 | c.11566C>A (p.Pro3856Thr) c.11167-916C>A (n.11167-916C>A) c.4652C>A c.8847C>A c.6013C>A (p.Pro2005Thr) c.9031C>A c.11947C>A (p.Pro3983Thr) c.2101C>A (p.Pro701Thr) c.3303C>A c.1260+388C>A c.3118C>A n.122C>A c.11821C>A (p.Pro3941Thr) n.5750C>A c.11950C>A (p.Pro3984Thr) | |
2 | g.73601269C>G | CA347265860 | ALMS1 | c.11566C>G (p.Pro3856Ala) c.11167-916C>G (n.11167-916C>G) c.4652C>G c.8847C>G c.6013C>G (p.Pro2005Ala) c.9031C>G c.11947C>G (p.Pro3983Ala) c.2101C>G (p.Pro701Ala) c.3303C>G c.1260+388C>G c.3118C>G n.122C>G c.11821C>G (p.Pro3941Ala) n.5750C>G c.11950C>G (p.Pro3984Ala) | |
2 | g.73601269C>T | CA347265862 | ALMS1 | c.11566C>T (p.Pro3856Ser) c.11167-916C>T (n.11167-916C>T) c.4652C>T c.8847C>T c.6013C>T (p.Pro2005Ser) c.9031C>T c.11947C>T (p.Pro3983Ser) c.2101C>T (p.Pro701Ser) c.3303C>T c.1260+388C>T c.3118C>T n.122C>T c.11821C>T (p.Pro3941Ser) n.5750C>T c.11950C>T (p.Pro3984Ser) | gnomAD v4 |
2 | g.73601270C>A | CA347265866 | ALMS1 | c.11567C>A (p.Pro3856His) c.11167-915C>A (n.11167-915C>A) c.4653C>A c.8848C>A c.6014C>A (p.Pro2005His) c.9032C>A c.11948C>A (p.Pro3983His) c.2102C>A (p.Pro701His) c.3304C>A c.1260+389C>A c.3119C>A n.123C>A c.11822C>A (p.Pro3941His) n.5751C>A c.11951C>A (p.Pro3984His) | |
2 | g.73601270C= | CA1261033764 | ALMS1 | c.11567C= (p.Pro3856=) c.11167-915C= (n.11167-915C=) c.4653C= c.8848C= c.6014C= (p.Pro2005=) c.9032C= c.11948C= (p.Pro3983=) c.2102C= (p.Pro701=) c.3304C= c.1260+389C= c.3119C= n.123C= c.11822C= (p.Pro3941=) n.5751C= c.11951C= (p.Pro3984=) | |
2 | g.73601270C>G | CA50337290 | ALMS1 | c.11567C>G (p.Pro3856Arg) c.11167-915C>G (n.11167-915C>G) c.4653C>G c.8848C>G c.6014C>G (p.Pro2005Arg) c.9032C>G c.11948C>G (p.Pro3983Arg) c.2102C>G (p.Pro701Arg) c.3304C>G c.1260+389C>G c.3119C>G n.123C>G c.11822C>G (p.Pro3941Arg) n.5751C>G c.11951C>G (p.Pro3984Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.73601270C>T | CA347265870 | ALMS1 | c.11567C>T (p.Pro3856Leu) c.11167-915C>T (n.11167-915C>T) c.4653C>T c.8848C>T c.6014C>T (p.Pro2005Leu) c.9032C>T c.11948C>T (p.Pro3983Leu) c.2102C>T (p.Pro701Leu) c.3304C>T c.1260+389C>T c.3119C>T n.123C>T c.11822C>T (p.Pro3941Leu) n.5751C>T c.11951C>T (p.Pro3984Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.73601271T>A | CA426783533 | ALMS1 | c.11568T>A (p.Pro3856=) c.11167-914T>A (n.11167-914T>A) c.4654T>A c.8849T>A c.6015T>A (p.Pro2005=) c.9033T>A c.11949T>A (p.Pro3983=) c.2103T>A (p.Pro701=) c.3305T>A c.1260+390T>A c.3120T>A n.124T>A c.11823T>A (p.Pro3941=) n.5752T>A c.11952T>A (p.Pro3984=) | |
2 | g.73601271T>C | CA426783534 | ALMS1 | c.11568T>C (p.Pro3856=) c.11167-914T>C (n.11167-914T>C) c.4654T>C c.8849T>C c.6015T>C (p.Pro2005=) c.9033T>C c.11949T>C (p.Pro3983=) c.2103T>C (p.Pro701=) c.3305T>C c.1260+390T>C c.3120T>C n.124T>C c.11823T>C (p.Pro3941=) n.5752T>C c.11952T>C (p.Pro3984=) | dbSNP |
2 | g.73601271T>G | CA426783535 | ALMS1 | c.11568T>G (p.Pro3856=) c.11167-914T>G (n.11167-914T>G) c.4654T>G c.8849T>G c.6015T>G (p.Pro2005=) c.9033T>G c.11949T>G (p.Pro3983=) c.2103T>G (p.Pro701=) c.3305T>G c.1260+390T>G c.3120T>G n.124T>G c.11823T>G (p.Pro3941=) n.5752T>G c.11952T>G (p.Pro3984=) | |
2 | g.73601271T= | CA1261033766 | ALMS1 | c.11568T= (p.Pro3856=) c.11167-914T= (n.11167-914T=) c.4654T= c.8849T= c.6015T= (p.Pro2005=) c.9033T= c.11949T= (p.Pro3983=) c.2103T= (p.Pro701=) c.3305T= c.1260+390T= c.3120T= n.124T= c.11823T= (p.Pro3941=) n.5752T= c.11952T= (p.Pro3984=) | |
2 | g.73601272G>A | CA347265879 | ALMS1 | c.11569G>A (p.Gly3857Ser) c.11167-913G>A (n.11167-913G>A) c.4655G>A c.8850G>A c.6016G>A (p.Gly2006Ser) c.9034G>A c.11950G>A (p.Gly3984Ser) c.2104G>A (p.Gly702Ser) c.3306G>A c.1260+391G>A c.3121G>A n.125G>A c.11824G>A (p.Gly3942Ser) n.5753G>A c.11953G>A (p.Gly3985Ser) | |
2 | g.73601272G>C | CA347265874 | ALMS1 | c.11569G>C (p.Gly3857Arg) c.11167-913G>C (n.11167-913G>C) c.4655G>C c.8850G>C c.6016G>C (p.Gly2006Arg) c.9034G>C c.11950G>C (p.Gly3984Arg) c.2104G>C (p.Gly702Arg) c.3306G>C c.1260+391G>C c.3121G>C n.125G>C c.11824G>C (p.Gly3942Arg) n.5753G>C c.11953G>C (p.Gly3985Arg) | |
2 | g.73601272G>T | CA347265876 | ALMS1 | c.11569G>T (p.Gly3857Cys) c.11167-913G>T (n.11167-913G>T) c.4655G>T c.8850G>T c.6016G>T (p.Gly2006Cys) c.9034G>T c.11950G>T (p.Gly3984Cys) c.2104G>T (p.Gly702Cys) c.3306G>T c.1260+391G>T c.3121G>T n.125G>T c.11824G>T (p.Gly3942Cys) n.5753G>T c.11953G>T (p.Gly3985Cys) | |
2 | g.73601273G>A | CA347265883 | ALMS1 | c.11570G>A (p.Gly3857Asp) c.11167-912G>A (n.11167-912G>A) c.4656G>A c.8851G>A c.6017G>A (p.Gly2006Asp) c.9035G>A c.11951G>A (p.Gly3984Asp) c.2105G>A (p.Gly702Asp) c.3307G>A c.1260+392G>A c.3122G>A n.126G>A c.11825G>A (p.Gly3942Asp) n.5754G>A c.11954G>A (p.Gly3985Asp) | gnomAD v3 gnomAD v4 |
2 | g.73601273G>C | CA347265886 | ALMS1 | c.11570G>C (p.Gly3857Ala) c.11167-912G>C (n.11167-912G>C) c.4656G>C c.8851G>C c.6017G>C (p.Gly2006Ala) c.9035G>C c.11951G>C (p.Gly3984Ala) c.2105G>C (p.Gly702Ala) c.3307G>C c.1260+392G>C c.3122G>C n.126G>C c.11825G>C (p.Gly3942Ala) n.5754G>C c.11954G>C (p.Gly3985Ala) | |
2 | g.73601273G= | CA1261033768 | ALMS1 | c.11570G= (p.Gly3857=) c.11167-912G= (n.11167-912G=) c.4656G= c.8851G= c.6017G= (p.Gly2006=) c.9035G= c.11951G= (p.Gly3984=) c.2105G= (p.Gly702=) c.3307G= c.1260+392G= c.3122G= n.126G= c.11825G= (p.Gly3942=) n.5754G= c.11954G= (p.Gly3985=) | |
2 | g.73601273G>T | CA1715389 | ALMS1 | c.11570G>T (p.Gly3857Val) c.11167-912G>T (n.11167-912G>T) c.4656G>T c.8851G>T c.6017G>T (p.Gly2006Val) c.9035G>T c.11951G>T (p.Gly3984Val) c.2105G>T (p.Gly702Val) c.3307G>T c.1260+392G>T c.3122G>T n.126G>T c.11825G>T (p.Gly3942Val) n.5754G>T c.11954G>T (p.Gly3985Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.73601274C>A | CA426783536 | ALMS1 | c.11571C>A (p.Gly3857=) c.11167-911C>A (n.11167-911C>A) c.4657C>A c.8852C>A c.6018C>A (p.Gly2006=) c.9036C>A c.11952C>A (p.Gly3984=) c.2106C>A (p.Gly702=) c.3308C>A c.1260+393C>A c.3123C>A n.127C>A c.11826C>A (p.Gly3942=) n.5755C>A c.11955C>A (p.Gly3985=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601274C= | CA1261033772 | ALMS1 | c.11571C= (p.Gly3857=) c.11167-911C= (n.11167-911C=) c.4657C= c.8852C= c.6018C= (p.Gly2006=) c.9036C= c.11952C= (p.Gly3984=) c.2106C= (p.Gly702=) c.3308C= c.1260+393C= c.3123C= n.127C= c.11826C= (p.Gly3942=) n.5755C= c.11955C= (p.Gly3985=) | |
2 | g.73601274C>G | CA50337292 | ALMS1 | c.11571C>G (p.Gly3857=) c.11167-911C>G (n.11167-911C>G) c.4657C>G c.8852C>G c.6018C>G (p.Gly2006=) c.9036C>G c.11952C>G (p.Gly3984=) c.2106C>G (p.Gly702=) c.3308C>G c.1260+393C>G c.3123C>G n.127C>G c.11826C>G (p.Gly3942=) n.5755C>G c.11955C>G (p.Gly3985=) | dbSNP gnomAD v4 |
2 | g.73601274C>T | CA426783537 | ALMS1 | c.11571C>T (p.Gly3857=) c.11167-911C>T (n.11167-911C>T) c.4657C>T c.8852C>T c.6018C>T (p.Gly2006=) c.9036C>T c.11952C>T (p.Gly3984=) c.2106C>T (p.Gly702=) c.3308C>T c.1260+393C>T c.3123C>T n.127C>T c.11826C>T (p.Gly3942=) n.5755C>T c.11955C>T (p.Gly3985=) | |
2 | g.73601275A= | CA1261033779 | ALMS1 | c.11572A= (p.Ile3858=) c.11167-910A= (n.11167-910A=) c.4658A= c.8853A= c.6019A= (p.Ile2007=) c.9037A= c.11953A= (p.Ile3985=) c.2107A= (p.Ile703=) c.3309A= c.1260+394A= c.3124A= n.128A= c.11827A= (p.Ile3943=) n.5756A= c.11956A= (p.Ile3986=) | |
2 | g.73601275A>C | CA347265888 | ALMS1 | c.11572A>C (p.Ile3858Leu) c.11167-910A>C (n.11167-910A>C) c.4658A>C c.8853A>C c.6019A>C (p.Ile2007Leu) c.9037A>C c.11953A>C (p.Ile3985Leu) c.2107A>C (p.Ile703Leu) c.3309A>C c.1260+394A>C c.3124A>C n.128A>C c.11827A>C (p.Ile3943Leu) n.5756A>C c.11956A>C (p.Ile3986Leu) | |
2 | g.73601275A>G | CA1715390 | ALMS1 | c.11572A>G (p.Ile3858Val) c.11167-910A>G (n.11167-910A>G) c.4658A>G c.8853A>G c.6019A>G (p.Ile2007Val) c.9037A>G c.11953A>G (p.Ile3985Val) c.2107A>G (p.Ile703Val) c.3309A>G c.1260+394A>G c.3124A>G n.128A>G c.11827A>G (p.Ile3943Val) n.5756A>G c.11956A>G (p.Ile3986Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.73601275A>T | CA347265893 | ALMS1 | c.11572A>T (p.Ile3858Phe) c.11167-910A>T (n.11167-910A>T) c.4658A>T c.8853A>T c.6019A>T (p.Ile2007Phe) c.9037A>T c.11953A>T (p.Ile3985Phe) c.2107A>T (p.Ile703Phe) c.3309A>T c.1260+394A>T c.3124A>T n.128A>T c.11827A>T (p.Ile3943Phe) n.5756A>T c.11956A>T (p.Ile3986Phe) |