Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11083338_11092681del | CA2573130251 | |||
19 | g.11087732_11090710del | CA915951650 | ClinVar | ||
19 | g.11089318_11089458delinsACGGGTTAAAAAGCCGATGTCACATCGGCCGTTCGAAACTCCTCCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCC | CA2322759646 | LDLR-AS1 | n.202_342delinsGGCCCACGTCATTTACAGCATTTCAATGTGAGGTTTCTAGCAGGGGGAGGAGTTTGCAGTGGGGTGATTTTCAAATGTCTTCACCTCACTGCAAGAGGAGGAGTTTCGAACGGCCGATGTGACATCGGCTTTTTAACCCGT | |
19 | g.11089320_11089459del | CA645373259 | LDLR-AS1 | n.202_341del | ClinVar |
19 | g.11089329dup | CA10584690 | LDLR-AS1 | n.335dup | ClinVar dbSNP gnomAD v4 |
19 | g.11089326A>C | CA2579834086 | LDLR-AS1 | n.334T>G | |
19 | g.11089326A>G | CA2579834087 | LDLR-AS1 | n.334T>C | dbSNP |
19 | g.11089326A>T | CA2579834088 | LDLR-AS1 | n.334T>A | |
19 | g.11089327A>C | CA2579834089 | LDLR-AS1 | n.333T>G | |
19 | g.11089327A>G | CA2579834090 | LDLR-AS1 | n.333T>C | |
19 | g.11089327A>T | CA2579834093 | LDLR-AS1 | n.333T>A | |
19 | g.11089328A>C | CA2579834092 | LDLR-AS1 | n.332T>G | |
19 | g.11089328A>G | CA2579834094 | LDLR-AS1 | n.332T>C | |
19 | g.11089328A>T | CA2579834095 | LDLR-AS1 | n.332T>A | |
19 | g.11089329A>C | CA2579834096 | LDLR-AS1 | n.331T>G | |
19 | g.11089329A>G | CA2579834097 | LDLR-AS1 | n.331T>C | |
19 | g.11089329A>T | CA2579834098 | LDLR-AS1 | n.331T>A | |
19 | g.11089330G>A | CA2579834102 | LDLR-AS1 | n.330C>T | |
19 | g.11089330G>C | CA2579834100 | LDLR-AS1 | n.330C>G | |
19 | g.11089330G= | CA2579834099 | LDLR-AS1 | n.330C= | |
19 | g.11089330G>T | CA2579834106 | LDLR-AS1 | n.330C>A | |
19 | g.11089331C>A | CA2579834103 | LDLR-AS1 | n.329G>T | gnomAD v4 |
19 | g.11089331C= | CA2579834105 | LDLR-AS1 | n.329G= | |
19 | g.11089331C>G | CA2579834104 | LDLR-AS1 | n.329G>C | |
19 | g.11089331C>T | CA2579834107 | LDLR-AS1 | n.329G>A | gnomAD v4 |
19 | g.11089332C>A | CA2579834108 | LDLR-AS1 | n.328G>T | gnomAD v4 |
19 | g.11089332C= | CA2322759651 | LDLR-AS1 | n.328G= | |
19 | g.11089332C>G | CA913189224 | LDLR-AS1 | n.328G>C | ClinVar dbSNP gnomAD v4 |
19 | g.11089332C>T | CA10584691 | LDLR-AS1 | n.328G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11089333G>A | CA2579834111 | LDLR-AS1 | n.327C>T | |
19 | g.11089333G>C | CA2579834112 | LDLR-AS1 | n.327C>G | |
19 | g.11089333G= | CA2579834109 | LDLR-AS1 | n.327C= | |
19 | g.11089333G>T | CA2579834113 | LDLR-AS1 | n.327C>A | gnomAD v4 |
19 | g.11089334A= | CA2322759652 | LDLR-AS1 | n.326T= | |
19 | g.11089334A>C | CA2579834114 | LDLR-AS1 | n.326T>G | ClinVar gnomAD v4 |
19 | g.11089334A>G | CA10584692 | LDLR-AS1 | n.326T>C | ClinVar dbSNP gnomAD v4 |
19 | g.11089334A>T | CA2322759653 | LDLR-AS1 | n.326T>A | dbSNP gnomAD v4 |
19 | g.11089335T>A | CA2579834115 | LDLR-AS1 | n.325A>T | |
19 | g.11089335T>C | CA2322759655 | LDLR-AS1 | n.325A>G | dbSNP gnomAD v4 |
19 | g.11089335T>G | CA2579834116 | LDLR-AS1 | n.325A>C | |
19 | g.11089335T= | CA2322759654 | LDLR-AS1 | n.325A= | |
19 | g.11089336G>A | CA2579834117 | LDLR-AS1 | n.324C>T | |
19 | g.11089336G>C | CA2579834119 | LDLR-AS1 | n.324C>G | |
19 | g.11089336G>T | CA2579834120 | LDLR-AS1 | n.324C>A | |
19 | g.11089337T>A | CA2579834121 | LDLR-AS1 | n.323A>T | |
19 | g.11089337T>C | CA2579834124 | LDLR-AS1 | n.323A>G | |
19 | g.11089337T>G | CA2579834122 | LDLR-AS1 | n.323A>C | |
19 | g.11089338C>A | CA2579834125 | LDLR-AS1 | n.322G>T | gnomAD v4 |
19 | g.11089338C= | CA2579834123 | LDLR-AS1 | n.322G= | |
19 | g.11089338C>G | CA2579834126 | LDLR-AS1 | n.322G>C |