| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23539393C>A | CA401792446 | NPC1 | c.2873G>T (p.Arg958Leu) c.1951G>T n.506G>T c.2924G>T (p.Arg975Leu) c.2459G>T (p.Arg820Leu) | dbSNP |
| 18 | g.23539393C= | CA2290165730 | NPC1 | c.2873G= (p.Arg958=) c.1951G= n.506G= c.2924G= (p.Arg975=) c.2459G= (p.Arg820=) | |
| 18 | g.23539393C>G | CA401792447 | NPC1 | c.2873G>C (p.Arg958Pro) c.1951G>C n.506G>C c.2924G>C (p.Arg975Pro) c.2459G>C (p.Arg820Pro) | |
| 18 | g.23539393C>T | CA252498 | NPC1 | c.2873G>A (p.Arg958Gln) c.1951G>A n.506G>A c.2924G>A (p.Arg975Gln) c.2459G>A (p.Arg820Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 18 | g.23539394G>A | CA8912940 | NPC1 | c.2872C>T (p.Arg958Ter) c.1950C>T n.505C>T c.2923C>T (p.Arg975Ter) c.2458C>T (p.Arg820Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23539394G>C | CA401792448 | NPC1 | c.2872C>G (p.Arg958Gly) c.1950C>G n.505C>G c.2923C>G (p.Arg975Gly) c.2458C>G (p.Arg820Gly) | |
| 18 | g.23539394G= | CA2290165731 | NPC1 | c.2872C= (p.Arg958=) c.1950C= n.505C= c.2923C= (p.Arg975=) c.2458C= (p.Arg820=) | |
| 18 | g.23539394G>T | CA503322554 | NPC1 | c.2872C>A (p.Arg958=) c.1950C>A n.505C>A c.2923C>A (p.Arg975=) c.2458C>A (p.Arg820=) | |
| 18 | g.23539395A>C | CA401792449 | NPC1 | c.2871T>G (p.Cys957Trp) c.1949T>G n.504T>G c.2922T>G (p.Cys974Trp) c.2457T>G (p.Cys819Trp) | |
| 18 | g.23539395A>G | CA503322555 | NPC1 | c.2871T>C (p.Cys957=) c.1949T>C n.504T>C c.2922T>C (p.Cys974=) c.2457T>C (p.Cys819=) | |
| 18 | g.23539395A>T | CA401792450 | NPC1 | c.2871T>A (p.Cys957Ter) c.1949T>A n.504T>A c.2922T>A (p.Cys974Ter) c.2457T>A (p.Cys819Ter) | ClinVar |
| 18 | g.23539396C>A | CA401792451 | NPC1 | c.2870G>T (p.Cys957Phe) c.1948G>T n.503G>T c.2921G>T (p.Cys974Phe) c.2456G>T (p.Cys819Phe) | |
| 18 | g.23539396C>G | CA401792452 | NPC1 | c.2870G>C (p.Cys957Ser) c.1948G>C n.503G>C c.2921G>C (p.Cys974Ser) c.2456G>C (p.Cys819Ser) | |
| 18 | g.23539396C>T | CA401792453 | NPC1 | c.2870G>A (p.Cys957Tyr) c.1948G>A n.503G>A c.2921G>A (p.Cys974Tyr) c.2456G>A (p.Cys819Tyr) | |
| 18 | g.23539397A>C | CA401792456 | NPC1 | c.2869T>G (p.Cys957Gly) c.1947T>G n.502T>G c.2920T>G (p.Cys974Gly) c.2455T>G (p.Cys819Gly) | |
| 18 | g.23539397A>G | CA401792454 | NPC1 | c.2869T>C (p.Cys957Arg) c.1947T>C n.502T>C c.2920T>C (p.Cys974Arg) c.2455T>C (p.Cys819Arg) | gnomAD v4 |
| 18 | g.23539397A>T | CA401792455 | NPC1 | c.2869T>A (p.Cys957Ser) c.1947T>A n.502T>A c.2920T>A (p.Cys974Ser) c.2455T>A (p.Cys819Ser) | |
| 18 | g.23539398G>A | CA503322556 | NPC1 | c.2868C>T (p.Cys956=) c.1946C>T n.501C>T c.2919C>T (p.Cys973=) c.2454C>T (p.Cys818=) | gnomAD v4 |
| 18 | g.23539398G>C | CA401792457 | NPC1 | c.2868C>G (p.Cys956Trp) c.1946C>G n.501C>G c.2919C>G (p.Cys973Trp) c.2454C>G (p.Cys818Trp) | |
| 18 | g.23539398G>T | CA401792458 | NPC1 | c.2868C>A (p.Cys956Ter) c.1946C>A n.501C>A c.2919C>A (p.Cys973Ter) c.2454C>A (p.Cys818Ter) | |
| 18 | g.23539399C>A | CA401792459 | NPC1 | c.2867G>T (p.Cys956Phe) c.1945G>T n.500G>T c.2918G>T (p.Cys973Phe) c.2453G>T (p.Cys818Phe) | |
| 18 | g.23539399C= | CA2290165732 | NPC1 | c.2867G= (p.Cys956=) c.1945G= n.500G= c.2918G= (p.Cys973=) c.2453G= (p.Cys818=) | |
| 18 | g.23539399C>G | CA401792460 | NPC1 | c.2867G>C (p.Cys956Ser) c.1945G>C n.500G>C c.2918G>C (p.Cys973Ser) c.2453G>C (p.Cys818Ser) | |
| 18 | g.23539399C>T | CA401792461 | NPC1 | c.2867G>A (p.Cys956Tyr) c.1945G>A n.500G>A c.2918G>A (p.Cys973Tyr) c.2453G>A (p.Cys818Tyr) | dbSNP |
| 18 | g.23539400A>C | CA401792462 | NPC1 | c.2866T>G (p.Cys956Gly) c.1944T>G n.499T>G c.2917T>G (p.Cys973Gly) c.2452T>G (p.Cys818Gly) | |
| 18 | g.23539400A>G | CA401792463 | NPC1 | c.2866T>C (p.Cys956Arg) c.1944T>C n.499T>C c.2917T>C (p.Cys973Arg) c.2452T>C (p.Cys818Arg) | |
| 18 | g.23539400A>T | CA401792464 | NPC1 | c.2866T>A (p.Cys956Ser) c.1944T>A n.499T>A c.2917T>A (p.Cys973Ser) c.2452T>A (p.Cys818Ser) | |
| 18 | g.23539401A= | CA2290165733 | NPC1 | c.2865T= (p.Ser955=) c.1943T= n.498T= c.2916T= (p.Ser972=) c.2451T= (p.Ser817=) | |
| 18 | g.23539401A>C | CA503322558 | NPC1 | c.2865T>G (p.Ser955=) c.1943T>G n.498T>G c.2916T>G (p.Ser972=) c.2451T>G (p.Ser817=) | |
| 18 | g.23539401A>G | CA297081160 | NPC1 | c.2865T>C (p.Ser955=) c.1943T>C n.498T>C c.2916T>C (p.Ser972=) c.2451T>C (p.Ser817=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23539401A>T | CA503322557 | NPC1 | c.2865T>A (p.Ser955=) c.1943T>A n.498T>A c.2916T>A (p.Ser972=) c.2451T>A (p.Ser817=) | |
| 18 | g.23539401_23539404delinsAGAC | CA2290165734 | NPC1 | c.2862_2865delinsGTCT (p.Ser954=) c.1940_1943delinsGTCT n.495_498delinsGTCT c.2913_2916delinsGTCT (p.Ser971=) c.2448_2451delinsGTCT (p.Ser816=) | |
| 18 | g.23539402G>A | CA297081164 | NPC1 | c.2864C>T (p.Ser955Phe) c.1942C>T n.497C>T c.2915C>T (p.Ser972Phe) c.2450C>T (p.Ser817Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23539402G>C | CA401792465 | NPC1 | c.2864C>G (p.Ser955Cys) c.1942C>G n.497C>G c.2915C>G (p.Ser972Cys) c.2450C>G (p.Ser817Cys) | |
| 18 | g.23539402G= | CA2290165735 | NPC1 | c.2864C= (p.Ser955=) c.1942C= n.497C= c.2915C= (p.Ser972=) c.2450C= (p.Ser817=) | |
| 18 | g.23539402G>T | CA401792466 | NPC1 | c.2864C>A (p.Ser955Tyr) c.1942C>A n.497C>A c.2915C>A (p.Ser972Tyr) c.2450C>A (p.Ser817Tyr) | |
| 18 | g.23539405_23539407del | CA628677872 | NPC1 | c.2862_2864del (p.Ser955del) c.1940_1942del n.495_497del c.2913_2915del (p.Ser972del) c.2448_2450del (p.Ser817del) | dbSNP gnomAD v2 |
| 18 | g.23539403A>C | CA401792469 | NPC1 | c.2863T>G (p.Ser955Ala) c.1941T>G n.496T>G c.2914T>G (p.Ser972Ala) c.2449T>G (p.Ser817Ala) | |
| 18 | g.23539403A>G | CA401792468 | NPC1 | c.2863T>C (p.Ser955Pro) c.1941T>C n.496T>C c.2914T>C (p.Ser972Pro) c.2449T>C (p.Ser817Pro) | |
| 18 | g.23539403A>T | CA401792467 | NPC1 | c.2863T>A (p.Ser955Thr) c.1941T>A n.496T>A c.2914T>A (p.Ser972Thr) c.2449T>A (p.Ser817Thr) | |
| 18 | g.23539404C>A | CA503322559 | NPC1 | c.2862G>T (p.Ser954=) c.1940G>T n.495G>T c.2913G>T (p.Ser971=) c.2448G>T (p.Ser816=) | |
| 18 | g.23539404C= | CA2290165736 | NPC1 | c.2862G= (p.Ser954=) c.1940G= n.495G= c.2913G= (p.Ser971=) c.2448G= (p.Ser816=) | |
| 18 | g.23539404C>G | CA503322560 | NPC1 | c.2862G>C (p.Ser954=) c.1940G>C n.495G>C c.2913G>C (p.Ser971=) c.2448G>C (p.Ser816=) | |
| 18 | g.23539404C>T | CA220561 | NPC1 | c.2862G>A (p.Ser954=) c.1940G>A n.495G>A c.2913G>A (p.Ser971=) c.2448G>A (p.Ser816=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23539405G>A | CA297014 | NPC1 | c.2861C>T (p.Ser954Leu) c.1939C>T n.494C>T c.2912C>T (p.Ser971Leu) c.2447C>T (p.Ser816Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23539405G>C | CA401792470 | NPC1 | c.2861C>G (p.Ser954Trp) c.1939C>G n.494C>G c.2912C>G (p.Ser971Trp) c.2447C>G (p.Ser816Trp) | |
| 18 | g.23539405G= | CA2290165737 | NPC1 | c.2861C= (p.Ser954=) c.1939C= n.494C= c.2912C= (p.Ser971=) c.2447C= (p.Ser816=) | |
| 18 | g.23539405G>T | CA401792471 | NPC1 | c.2861C>A (p.Ser954Ter) c.1939C>A n.494C>A c.2912C>A (p.Ser971Ter) c.2447C>A (p.Ser816Ter) | gnomAD v4 |
| 18 | g.23539406A>C | CA401792472 | NPC1 | c.2860T>G (p.Ser954Ala) c.1938T>G n.493T>G c.2911T>G (p.Ser971Ala) c.2446T>G (p.Ser816Ala) | |
| 18 | g.23539406A>G | CA401792474 | NPC1 | c.2860T>C (p.Ser954Pro) c.1938T>C n.493T>C c.2911T>C (p.Ser971Pro) c.2446T>C (p.Ser816Pro) |