UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.53568656G>A | CA2429880732 | HUWE1 | c.6704+36C>T (n.6704+36C>T) c.6707+36C>T (n.6707+36C>T) c.6680+36C>T (n.6680+36C>T) c.6956+36C>T (n.6956+36C>T) c.6953+36C>T (n.6953+36C>T) n.7391+36C>T c.7088+36C>T (n.7088+36C>T) c.7085+36C>T (n.7085+36C>T) c.7067+36C>T (n.7067+36C>T) c.6977+36C>T (n.6977+36C>T) c.6839+36C>T (n.6839+36C>T) | dbSNP gnomAD v4 |
| X | g.53568656G= | CA2429880731 | HUWE1 | c.6704+36C= (n.6704+36C=) c.6707+36C= (n.6707+36C=) c.6680+36C= (n.6680+36C=) c.6956+36C= (n.6956+36C=) c.6953+36C= (n.6953+36C=) n.7391+36C= c.7088+36C= (n.7088+36C=) c.7085+36C= (n.7085+36C=) c.7067+36C= (n.7067+36C=) c.6977+36C= (n.6977+36C=) c.6839+36C= (n.6839+36C=) | |
| X | g.53568656G>T | CA2579617599 | HUWE1 | c.6704+36C>A (n.6704+36C>A) c.6707+36C>A (n.6707+36C>A) c.6680+36C>A (n.6680+36C>A) c.6956+36C>A (n.6956+36C>A) c.6953+36C>A (n.6953+36C>A) n.7391+36C>A c.7088+36C>A (n.7088+36C>A) c.7085+36C>A (n.7085+36C>A) c.7067+36C>A (n.7067+36C>A) c.6977+36C>A (n.6977+36C>A) c.6839+36C>A (n.6839+36C>A) | |
| X | g.53568658G>C | CA2738536090 | HUWE1 | c.6704+34C>G (n.6704+34C>G) c.6707+34C>G (n.6707+34C>G) c.6680+34C>G (n.6680+34C>G) c.6956+34C>G (n.6956+34C>G) c.6953+34C>G (n.6953+34C>G) n.7391+34C>G c.7088+34C>G (n.7088+34C>G) c.7085+34C>G (n.7085+34C>G) c.7067+34C>G (n.7067+34C>G) c.6977+34C>G (n.6977+34C>G) c.6839+34C>G (n.6839+34C>G) | dbSNP |
| X | g.53568658G= | CA2429880733 | HUWE1 | c.6704+34C= (n.6704+34C=) c.6707+34C= (n.6707+34C=) c.6680+34C= (n.6680+34C=) c.6956+34C= (n.6956+34C=) c.6953+34C= (n.6953+34C=) n.7391+34C= c.7088+34C= (n.7088+34C=) c.7085+34C= (n.7085+34C=) c.7067+34C= (n.7067+34C=) c.6977+34C= (n.6977+34C=) c.6839+34C= (n.6839+34C=) | |
| X | g.53568658G>T | CA329193087 | HUWE1 | c.6704+34C>A (n.6704+34C>A) c.6707+34C>A (n.6707+34C>A) c.6680+34C>A (n.6680+34C>A) c.6956+34C>A (n.6956+34C>A) c.6953+34C>A (n.6953+34C>A) n.7391+34C>A c.7088+34C>A (n.7088+34C>A) c.7085+34C>A (n.7085+34C>A) c.7067+34C>A (n.7067+34C>A) c.6977+34C>A (n.6977+34C>A) c.6839+34C>A (n.6839+34C>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.53568662G>T | CA2579617600 | HUWE1 | c.6704+30C>A (n.6704+30C>A) c.6707+30C>A (n.6707+30C>A) c.6680+30C>A (n.6680+30C>A) c.6956+30C>A (n.6956+30C>A) c.6953+30C>A (n.6953+30C>A) n.7391+30C>A c.7088+30C>A (n.7088+30C>A) c.7085+30C>A (n.7085+30C>A) c.7067+30C>A (n.7067+30C>A) c.6977+30C>A (n.6977+30C>A) c.6839+30C>A (n.6839+30C>A) | gnomAD v4 |
| X | g.53568666del | CA2579617601 | HUWE1 | c.6704+29del (n.6704+29del) c.6707+29del (n.6707+29del) c.6680+29del (n.6680+29del) c.6956+29del (n.6956+29del) c.6953+29del (n.6953+29del) n.7391+29del c.7088+29del (n.7088+29del) c.7085+29del (n.7085+29del) c.7067+29del (n.7067+29del) c.6977+29del (n.6977+29del) c.6839+29del (n.6839+29del) | gnomAD v4 |
| X | g.53568666A>C | CA2693816000 | HUWE1 | c.6704+26T>G (n.6704+26T>G) c.6707+26T>G (n.6707+26T>G) c.6680+26T>G (n.6680+26T>G) c.6956+26T>G (n.6956+26T>G) c.6953+26T>G (n.6953+26T>G) n.7391+26T>G c.7088+26T>G (n.7088+26T>G) c.7085+26T>G (n.7085+26T>G) c.7067+26T>G (n.7067+26T>G) c.6977+26T>G (n.6977+26T>G) c.6839+26T>G (n.6839+26T>G) | gnomAD v4 |
| X | g.53568666A>G | CA2693816001 | HUWE1 | c.6704+26T>C (n.6704+26T>C) c.6707+26T>C (n.6707+26T>C) c.6680+26T>C (n.6680+26T>C) c.6956+26T>C (n.6956+26T>C) c.6953+26T>C (n.6953+26T>C) n.7391+26T>C c.7088+26T>C (n.7088+26T>C) c.7085+26T>C (n.7085+26T>C) c.7067+26T>C (n.7067+26T>C) c.6977+26T>C (n.6977+26T>C) c.6839+26T>C (n.6839+26T>C) | gnomAD v4 |
| X | g.53568666A>T | CA2693816004 | HUWE1 | c.6704+26T>A (n.6704+26T>A) c.6707+26T>A (n.6707+26T>A) c.6680+26T>A (n.6680+26T>A) c.6956+26T>A (n.6956+26T>A) c.6953+26T>A (n.6953+26T>A) n.7391+26T>A c.7088+26T>A (n.7088+26T>A) c.7085+26T>A (n.7085+26T>A) c.7067+26T>A (n.7067+26T>A) c.6977+26T>A (n.6977+26T>A) c.6839+26T>A (n.6839+26T>A) | gnomAD v4 |
| X | g.53568667G>T | CA2693816007 | HUWE1 | c.6704+25C>A (n.6704+25C>A) c.6707+25C>A (n.6707+25C>A) c.6680+25C>A (n.6680+25C>A) c.6956+25C>A (n.6956+25C>A) c.6953+25C>A (n.6953+25C>A) n.7391+25C>A c.7088+25C>A (n.7088+25C>A) c.7085+25C>A (n.7085+25C>A) c.7067+25C>A (n.7067+25C>A) c.6977+25C>A (n.6977+25C>A) c.6839+25C>A (n.6839+25C>A) | gnomAD v4 |
| X | g.53568668C>A | CA2693816008 | HUWE1 | c.6704+24G>T (n.6704+24G>T) c.6707+24G>T (n.6707+24G>T) c.6680+24G>T (n.6680+24G>T) c.6956+24G>T (n.6956+24G>T) c.6953+24G>T (n.6953+24G>T) n.7391+24G>T c.7088+24G>T (n.7088+24G>T) c.7085+24G>T (n.7085+24G>T) c.7067+24G>T (n.7067+24G>T) c.6977+24G>T (n.6977+24G>T) c.6839+24G>T (n.6839+24G>T) | gnomAD v4 |
| X | g.53568671G>T | CA2693816009 | HUWE1 | c.6704+21C>A (n.6704+21C>A) c.6707+21C>A (n.6707+21C>A) c.6680+21C>A (n.6680+21C>A) c.6956+21C>A (n.6956+21C>A) c.6953+21C>A (n.6953+21C>A) n.7391+21C>A c.7088+21C>A (n.7088+21C>A) c.7085+21C>A (n.7085+21C>A) c.7067+21C>A (n.7067+21C>A) c.6977+21C>A (n.6977+21C>A) c.6839+21C>A (n.6839+21C>A) | gnomAD v4 |
| X | g.53568672G>A | CA2429880735 | HUWE1 | c.6704+20C>T (n.6704+20C>T) c.6707+20C>T (n.6707+20C>T) c.6680+20C>T (n.6680+20C>T) c.6956+20C>T (n.6956+20C>T) c.6953+20C>T (n.6953+20C>T) n.7391+20C>T c.7088+20C>T (n.7088+20C>T) c.7085+20C>T (n.7085+20C>T) c.7067+20C>T (n.7067+20C>T) c.6977+20C>T (n.6977+20C>T) c.6839+20C>T (n.6839+20C>T) | dbSNP gnomAD v4 |
| X | g.53568672G>C | CA10422059 | HUWE1 | c.6704+20C>G (n.6704+20C>G) c.6707+20C>G (n.6707+20C>G) c.6680+20C>G (n.6680+20C>G) c.6956+20C>G (n.6956+20C>G) c.6953+20C>G (n.6953+20C>G) n.7391+20C>G c.7088+20C>G (n.7088+20C>G) c.7085+20C>G (n.7085+20C>G) c.7067+20C>G (n.7067+20C>G) c.6977+20C>G (n.6977+20C>G) c.6839+20C>G (n.6839+20C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.53568672G= | CA2429880734 | HUWE1 | c.6704+20C= (n.6704+20C=) c.6707+20C= (n.6707+20C=) c.6680+20C= (n.6680+20C=) c.6956+20C= (n.6956+20C=) c.6953+20C= (n.6953+20C=) n.7391+20C= c.7088+20C= (n.7088+20C=) c.7085+20C= (n.7085+20C=) c.7067+20C= (n.7067+20C=) c.6977+20C= (n.6977+20C=) c.6839+20C= (n.6839+20C=) | |
| X | g.53568674G>A | CA10422060 | HUWE1 | c.6704+18C>T (n.6704+18C>T) c.6707+18C>T (n.6707+18C>T) c.6680+18C>T (n.6680+18C>T) c.6956+18C>T (n.6956+18C>T) c.6953+18C>T (n.6953+18C>T) n.7391+18C>T c.7088+18C>T (n.7088+18C>T) c.7085+18C>T (n.7085+18C>T) c.7067+18C>T (n.7067+18C>T) c.6977+18C>T (n.6977+18C>T) c.6839+18C>T (n.6839+18C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.53568674G= | CA2429880736 | HUWE1 | c.6704+18C= (n.6704+18C=) c.6707+18C= (n.6707+18C=) c.6680+18C= (n.6680+18C=) c.6956+18C= (n.6956+18C=) c.6953+18C= (n.6953+18C=) n.7391+18C= c.7088+18C= (n.7088+18C=) c.7085+18C= (n.7085+18C=) c.7067+18C= (n.7067+18C=) c.6977+18C= (n.6977+18C=) c.6839+18C= (n.6839+18C=) | |
| X | g.53568674G>T | CA2693816017 | HUWE1 | c.6704+18C>A (n.6704+18C>A) c.6707+18C>A (n.6707+18C>A) c.6680+18C>A (n.6680+18C>A) c.6956+18C>A (n.6956+18C>A) c.6953+18C>A (n.6953+18C>A) n.7391+18C>A c.7088+18C>A (n.7088+18C>A) c.7085+18C>A (n.7085+18C>A) c.7067+18C>A (n.7067+18C>A) c.6977+18C>A (n.6977+18C>A) c.6839+18C>A (n.6839+18C>A) | gnomAD v4 |
| X | g.53568675C= | CA2429880737 | HUWE1 | c.6704+17G= (n.6704+17G=) c.6707+17G= (n.6707+17G=) c.6680+17G= (n.6680+17G=) c.6956+17G= (n.6956+17G=) c.6953+17G= (n.6953+17G=) n.7391+17G= c.7088+17G= (n.7088+17G=) c.7085+17G= (n.7085+17G=) c.7067+17G= (n.7067+17G=) c.6977+17G= (n.6977+17G=) c.6839+17G= (n.6839+17G=) | |
| X | g.53568675C>G | CA10422061 | HUWE1 | c.6704+17G>C (n.6704+17G>C) c.6707+17G>C (n.6707+17G>C) c.6680+17G>C (n.6680+17G>C) c.6956+17G>C (n.6956+17G>C) c.6953+17G>C (n.6953+17G>C) n.7391+17G>C c.7088+17G>C (n.7088+17G>C) c.7085+17G>C (n.7085+17G>C) c.7067+17G>C (n.7067+17G>C) c.6977+17G>C (n.6977+17G>C) c.6839+17G>C (n.6839+17G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.53568676T>G | CA2693816021 | HUWE1 | c.6704+16A>C (n.6704+16A>C) c.6707+16A>C (n.6707+16A>C) c.6680+16A>C (n.6680+16A>C) c.6956+16A>C (n.6956+16A>C) c.6953+16A>C (n.6953+16A>C) n.7391+16A>C c.7088+16A>C (n.7088+16A>C) c.7085+16A>C (n.7085+16A>C) c.7067+16A>C (n.7067+16A>C) c.6977+16A>C (n.6977+16A>C) c.6839+16A>C (n.6839+16A>C) | gnomAD v4 |
| X | g.53568676dup | CA2579617602 | HUWE1 | c.6704+16dup (n.6704+16dup) c.6707+16dup (n.6707+16dup) c.6680+16dup (n.6680+16dup) c.6956+16dup (n.6956+16dup) c.6953+16dup (n.6953+16dup) n.7391+16dup c.7088+16dup (n.7088+16dup) c.7085+16dup (n.7085+16dup) c.7067+16dup (n.7067+16dup) c.6977+16dup (n.6977+16dup) c.6839+16dup (n.6839+16dup) | |
| X | g.53568677G>T | CA2579617604 | HUWE1 | c.6704+15C>A (n.6704+15C>A) c.6707+15C>A (n.6707+15C>A) c.6680+15C>A (n.6680+15C>A) c.6956+15C>A (n.6956+15C>A) c.6953+15C>A (n.6953+15C>A) n.7391+15C>A c.7088+15C>A (n.7088+15C>A) c.7085+15C>A (n.7085+15C>A) c.7067+15C>A (n.7067+15C>A) c.6977+15C>A (n.6977+15C>A) c.6839+15C>A (n.6839+15C>A) | |
| X | g.53568680del | CA2579617603 | HUWE1 | c.6704+15del (n.6704+15del) c.6707+15del (n.6707+15del) c.6680+15del (n.6680+15del) c.6956+15del (n.6956+15del) c.6953+15del (n.6953+15del) n.7391+15del c.7088+15del (n.7088+15del) c.7085+15del (n.7085+15del) c.7067+15del (n.7067+15del) c.6977+15del (n.6977+15del) c.6839+15del (n.6839+15del) | |
| X | g.53568679G>A | CA641904345 | HUWE1 | c.6704+13C>T (n.6704+13C>T) c.6707+13C>T (n.6707+13C>T) c.6680+13C>T (n.6680+13C>T) c.6956+13C>T (n.6956+13C>T) c.6953+13C>T (n.6953+13C>T) n.7391+13C>T c.7088+13C>T (n.7088+13C>T) c.7085+13C>T (n.7085+13C>T) c.7067+13C>T (n.7067+13C>T) c.6977+13C>T (n.6977+13C>T) c.6839+13C>T (n.6839+13C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53568679G= | CA2429880738 | HUWE1 | c.6704+13C= (n.6704+13C=) c.6707+13C= (n.6707+13C=) c.6680+13C= (n.6680+13C=) c.6956+13C= (n.6956+13C=) c.6953+13C= (n.6953+13C=) n.7391+13C= c.7088+13C= (n.7088+13C=) c.7085+13C= (n.7085+13C=) c.7067+13C= (n.7067+13C=) c.6977+13C= (n.6977+13C=) c.6839+13C= (n.6839+13C=) | |
| X | g.53568679G>T | CA2693816024 | HUWE1 | c.6704+13C>A (n.6704+13C>A) c.6707+13C>A (n.6707+13C>A) c.6680+13C>A (n.6680+13C>A) c.6956+13C>A (n.6956+13C>A) c.6953+13C>A (n.6953+13C>A) n.7391+13C>A c.7088+13C>A (n.7088+13C>A) c.7085+13C>A (n.7085+13C>A) c.7067+13C>A (n.7067+13C>A) c.6977+13C>A (n.6977+13C>A) c.6839+13C>A (n.6839+13C>A) | gnomAD v4 |
| X | g.53568680G>A | CA641904346 | HUWE1 | c.6704+12C>T (n.6704+12C>T) c.6707+12C>T (n.6707+12C>T) c.6680+12C>T (n.6680+12C>T) c.6956+12C>T (n.6956+12C>T) c.6953+12C>T (n.6953+12C>T) n.7391+12C>T c.7088+12C>T (n.7088+12C>T) c.7085+12C>T (n.7085+12C>T) c.7067+12C>T (n.7067+12C>T) c.6977+12C>T (n.6977+12C>T) c.6839+12C>T (n.6839+12C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.53568680G= | CA2429880739 | HUWE1 | c.6704+12C= (n.6704+12C=) c.6707+12C= (n.6707+12C=) c.6680+12C= (n.6680+12C=) c.6956+12C= (n.6956+12C=) c.6953+12C= (n.6953+12C=) n.7391+12C= c.7088+12C= (n.7088+12C=) c.7085+12C= (n.7085+12C=) c.7067+12C= (n.7067+12C=) c.6977+12C= (n.6977+12C=) c.6839+12C= (n.6839+12C=) | |
| X | g.53568682A= | CA2429880740 | HUWE1 | c.6704+10T= (n.6704+10T=) c.6707+10T= (n.6707+10T=) c.6680+10T= (n.6680+10T=) c.6956+10T= (n.6956+10T=) c.6953+10T= (n.6953+10T=) n.7391+10T= c.7088+10T= (n.7088+10T=) c.7085+10T= (n.7085+10T=) c.7067+10T= (n.7067+10T=) c.6977+10T= (n.6977+10T=) c.6839+10T= (n.6839+10T=) | |
| X | g.53568682A>G | CA2429880741 | HUWE1 | c.6704+10T>C (n.6704+10T>C) c.6707+10T>C (n.6707+10T>C) c.6680+10T>C (n.6680+10T>C) c.6956+10T>C (n.6956+10T>C) c.6953+10T>C (n.6953+10T>C) n.7391+10T>C c.7088+10T>C (n.7088+10T>C) c.7085+10T>C (n.7085+10T>C) c.7067+10T>C (n.7067+10T>C) c.6977+10T>C (n.6977+10T>C) c.6839+10T>C (n.6839+10T>C) | dbSNP gnomAD v4 |
| X | g.53568685A= | CA2429880742 | HUWE1 | c.6704+7T= (n.6704+7T=) c.6707+7T= (n.6707+7T=) c.6680+7T= (n.6680+7T=) c.6956+7T= (n.6956+7T=) c.6953+7T= (n.6953+7T=) n.7391+7T= c.7088+7T= (n.7088+7T=) c.7085+7T= (n.7085+7T=) c.7067+7T= (n.7067+7T=) c.6977+7T= (n.6977+7T=) c.6839+7T= (n.6839+7T=) | |
| X | g.53568685A>T | CA10422062 | HUWE1 | c.6704+7T>A (n.6704+7T>A) c.6707+7T>A (n.6707+7T>A) c.6680+7T>A (n.6680+7T>A) c.6956+7T>A (n.6956+7T>A) c.6953+7T>A (n.6953+7T>A) n.7391+7T>A c.7088+7T>A (n.7088+7T>A) c.7085+7T>A (n.7085+7T>A) c.7067+7T>A (n.7067+7T>A) c.6977+7T>A (n.6977+7T>A) c.6839+7T>A (n.6839+7T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53568686T>C | CA10422063 | HUWE1 | c.6704+6A>G (n.6704+6A>G) c.6707+6A>G (n.6707+6A>G) c.6680+6A>G (n.6680+6A>G) c.6956+6A>G (n.6956+6A>G) c.6953+6A>G (n.6953+6A>G) n.7391+6A>G c.7088+6A>G (n.7088+6A>G) c.7085+6A>G (n.7085+6A>G) c.7067+6A>G (n.7067+6A>G) c.6977+6A>G (n.6977+6A>G) c.6839+6A>G (n.6839+6A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53568686T= | CA2429880743 | HUWE1 | c.6704+6A= (n.6704+6A=) c.6707+6A= (n.6707+6A=) c.6680+6A= (n.6680+6A=) c.6956+6A= (n.6956+6A=) c.6953+6A= (n.6953+6A=) n.7391+6A= c.7088+6A= (n.7088+6A=) c.7085+6A= (n.7085+6A=) c.7067+6A= (n.7067+6A=) c.6977+6A= (n.6977+6A=) c.6839+6A= (n.6839+6A=) | |
| X | g.53568688_53568689del | CA2579617605 | HUWE1 | c.6704+5_6704+6del (n.6704+5_6704+6del) c.6707+5_6707+6del (n.6707+5_6707+6del) c.6680+5_6680+6del (n.6680+5_6680+6del) c.6956+5_6956+6del (n.6956+5_6956+6del) c.6953+5_6953+6del (n.6953+5_6953+6del) n.7391+5_7391+6del c.7088+5_7088+6del (n.7088+5_7088+6del) c.7085+5_7085+6del (n.7085+5_7085+6del) c.7067+5_7067+6del (n.7067+5_7067+6del) c.6977+5_6977+6del (n.6977+5_6977+6del) c.6839+5_6839+6del (n.6839+5_6839+6del) | |
| X | g.53568688T>C | CA10422064 | HUWE1 | c.6704+4A>G (n.6704+4A>G) c.6707+4A>G (n.6707+4A>G) c.6680+4A>G (n.6680+4A>G) c.6956+4A>G (n.6956+4A>G) c.6953+4A>G (n.6953+4A>G) n.7391+4A>G c.7088+4A>G (n.7088+4A>G) c.7085+4A>G (n.7085+4A>G) c.7067+4A>G (n.7067+4A>G) c.6977+4A>G (n.6977+4A>G) c.6839+4A>G (n.6839+4A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.53568688T= | CA2429880744 | HUWE1 | c.6704+4A= (n.6704+4A=) c.6707+4A= (n.6707+4A=) c.6680+4A= (n.6680+4A=) c.6956+4A= (n.6956+4A=) c.6953+4A= (n.6953+4A=) n.7391+4A= c.7088+4A= (n.7088+4A=) c.7085+4A= (n.7085+4A=) c.7067+4A= (n.7067+4A=) c.6977+4A= (n.6977+4A=) c.6839+4A= (n.6839+4A=) | |
| X | g.53568690A>C | CA413162967 | HUWE1 | c.6704+2T>G (n.6704+2T>G) c.6707+2T>G (n.6707+2T>G) c.6680+2T>G (n.6680+2T>G) c.6956+2T>G (n.6956+2T>G) c.6953+2T>G (n.6953+2T>G) n.7391+2T>G c.7088+2T>G (n.7088+2T>G) c.7085+2T>G (n.7085+2T>G) c.7067+2T>G (n.7067+2T>G) c.6977+2T>G (n.6977+2T>G) c.6839+2T>G (n.6839+2T>G) | |
| X | g.53568690A>G | CA413162964 | HUWE1 | c.6704+2T>C (n.6704+2T>C) c.6707+2T>C (n.6707+2T>C) c.6680+2T>C (n.6680+2T>C) c.6956+2T>C (n.6956+2T>C) c.6953+2T>C (n.6953+2T>C) n.7391+2T>C c.7088+2T>C (n.7088+2T>C) c.7085+2T>C (n.7085+2T>C) c.7067+2T>C (n.7067+2T>C) c.6977+2T>C (n.6977+2T>C) c.6839+2T>C (n.6839+2T>C) | |
| X | g.53568690A>T | CA413162960 | HUWE1 | c.6704+2T>A (n.6704+2T>A) c.6707+2T>A (n.6707+2T>A) c.6680+2T>A (n.6680+2T>A) c.6956+2T>A (n.6956+2T>A) c.6953+2T>A (n.6953+2T>A) n.7391+2T>A c.7088+2T>A (n.7088+2T>A) c.7085+2T>A (n.7085+2T>A) c.7067+2T>A (n.7067+2T>A) c.6977+2T>A (n.6977+2T>A) c.6839+2T>A (n.6839+2T>A) | |
| X | g.53568691C>A | CA413162971 | HUWE1 | c.6704+1G>T (n.6704+1G>T) c.6707+1G>T (n.6707+1G>T) c.6680+1G>T (n.6680+1G>T) c.6956+1G>T (n.6956+1G>T) c.6953+1G>T (n.6953+1G>T) n.7391+1G>T c.7088+1G>T (n.7088+1G>T) c.7085+1G>T (n.7085+1G>T) c.7067+1G>T (n.7067+1G>T) c.6977+1G>T (n.6977+1G>T) c.6839+1G>T (n.6839+1G>T) | |
| X | g.53568691C>G | CA413162972 | HUWE1 | c.6704+1G>C (n.6704+1G>C) c.6707+1G>C (n.6707+1G>C) c.6680+1G>C (n.6680+1G>C) c.6956+1G>C (n.6956+1G>C) c.6953+1G>C (n.6953+1G>C) n.7391+1G>C c.7088+1G>C (n.7088+1G>C) c.7085+1G>C (n.7085+1G>C) c.7067+1G>C (n.7067+1G>C) c.6977+1G>C (n.6977+1G>C) c.6839+1G>C (n.6839+1G>C) | |
| X | g.53568691C>T | CA413162975 | HUWE1 | c.6704+1G>A (n.6704+1G>A) c.6707+1G>A (n.6707+1G>A) c.6680+1G>A (n.6680+1G>A) c.6956+1G>A (n.6956+1G>A) c.6953+1G>A (n.6953+1G>A) n.7391+1G>A c.7088+1G>A (n.7088+1G>A) c.7085+1G>A (n.7085+1G>A) c.7067+1G>A (n.7067+1G>A) c.6977+1G>A (n.6977+1G>A) c.6839+1G>A (n.6839+1G>A) | |
| X | g.53568692C>A | CA413162978 | HUWE1 | c.6704G>T (p.Ser2235Ile) c.6707G>T (p.Ser2236Ile) c.6680G>T (p.Ser2227Ile) c.6956G>T (p.Ser2319Ile) c.6953G>T (p.Ser2318Ile) n.7391G>T c.7088G>T (p.Ser2363Ile) c.7085G>T (p.Ser2362Ile) c.7067G>T (p.Ser2356Ile) c.6977G>T (p.Ser2326Ile) c.6839G>T (p.Ser2280Ile) | |
| X | g.53568692C>G | CA413162981 | HUWE1 | c.6704G>C (p.Ser2235Thr) c.6707G>C (p.Ser2236Thr) c.6680G>C (p.Ser2227Thr) c.6956G>C (p.Ser2319Thr) c.6953G>C (p.Ser2318Thr) n.7391G>C c.7088G>C (p.Ser2363Thr) c.7085G>C (p.Ser2362Thr) c.7067G>C (p.Ser2356Thr) c.6977G>C (p.Ser2326Thr) c.6839G>C (p.Ser2280Thr) | |
| X | g.53568692C>T | CA413162983 | HUWE1 | c.6704G>A (p.Ser2235Asn) c.6707G>A (p.Ser2236Asn) c.6680G>A (p.Ser2227Asn) c.6956G>A (p.Ser2319Asn) c.6953G>A (p.Ser2318Asn) n.7391G>A c.7088G>A (p.Ser2363Asn) c.7085G>A (p.Ser2362Asn) c.7067G>A (p.Ser2356Asn) c.6977G>A (p.Ser2326Asn) c.6839G>A (p.Ser2280Asn) | ClinVar |
| X | g.53568693T>A | CA413162987 | HUWE1 | c.6703A>T (p.Ser2235Cys) c.6706A>T (p.Ser2236Cys) c.6679A>T (p.Ser2227Cys) c.6955A>T (p.Ser2319Cys) c.6952A>T (p.Ser2318Cys) n.7390A>T c.7087A>T (p.Ser2363Cys) c.7084A>T (p.Ser2362Cys) c.7066A>T (p.Ser2356Cys) c.6976A>T (p.Ser2326Cys) c.6838A>T (p.Ser2280Cys) | |
| X | g.53568693T>C | CA413162989 | HUWE1 | c.6703A>G (p.Ser2235Gly) c.6706A>G (p.Ser2236Gly) c.6679A>G (p.Ser2227Gly) c.6955A>G (p.Ser2319Gly) c.6952A>G (p.Ser2318Gly) n.7390A>G c.7087A>G (p.Ser2363Gly) c.7084A>G (p.Ser2362Gly) c.7066A>G (p.Ser2356Gly) c.6976A>G (p.Ser2326Gly) c.6838A>G (p.Ser2280Gly) | |
| X | g.53568693T>G | CA413162991 | HUWE1 | c.6703A>C (p.Ser2235Arg) c.6706A>C (p.Ser2236Arg) c.6679A>C (p.Ser2227Arg) c.6955A>C (p.Ser2319Arg) c.6952A>C (p.Ser2318Arg) n.7390A>C c.7087A>C (p.Ser2363Arg) c.7084A>C (p.Ser2362Arg) c.7066A>C (p.Ser2356Arg) c.6976A>C (p.Ser2326Arg) c.6838A>C (p.Ser2280Arg) | |
| X | g.53568694G>A | CA516433607 | HUWE1 | c.6702C>T (p.Ser2234=) c.6705C>T (p.Ser2235=) c.6678C>T (p.Ser2226=) c.6954C>T (p.Ser2318=) c.6951C>T (p.Ser2317=) n.7389C>T c.7086C>T (p.Ser2362=) c.7083C>T (p.Ser2361=) c.7065C>T (p.Ser2355=) c.6975C>T (p.Ser2325=) c.6837C>T (p.Ser2279=) | |
| X | g.53568694G>C | CA516433608 | HUWE1 | c.6702C>G (p.Ser2234=) c.6705C>G (p.Ser2235=) c.6678C>G (p.Ser2226=) c.6954C>G (p.Ser2318=) c.6951C>G (p.Ser2317=) n.7389C>G c.7086C>G (p.Ser2362=) c.7083C>G (p.Ser2361=) c.7065C>G (p.Ser2355=) c.6975C>G (p.Ser2325=) c.6837C>G (p.Ser2279=) | gnomAD v4 |
| X | g.53568694G>T | CA516433610 | HUWE1 | c.6702C>A (p.Ser2234=) c.6705C>A (p.Ser2235=) c.6678C>A (p.Ser2226=) c.6954C>A (p.Ser2318=) c.6951C>A (p.Ser2317=) n.7389C>A c.7086C>A (p.Ser2362=) c.7083C>A (p.Ser2361=) c.7065C>A (p.Ser2355=) c.6975C>A (p.Ser2325=) c.6837C>A (p.Ser2279=) | gnomAD v4 |
| X | g.53568695del | CA2579617606 | HUWE1 | c.6702del (p.Ser2235ValfsTer12) c.6705del (p.Ser2236ValfsTer12) c.6678del (p.Ser2227ValfsTer12) c.6954del (p.Ser2319ValfsTer12) c.6951del (p.Ser2318ValfsTer12) n.7389del c.7086del (p.Ser2363ValfsTer12) c.7083del (p.Ser2362ValfsTer12) c.7065del (p.Ser2356ValfsTer12) c.6975del (p.Ser2326ValfsTer12) c.6837del (p.Ser2280ValfsTer12) | |
| X | g.53568695G>A | CA413162994 | HUWE1 | c.6701C>T (p.Ser2234Phe) c.6704C>T (p.Ser2235Phe) c.6677C>T (p.Ser2226Phe) c.6953C>T (p.Ser2318Phe) c.6950C>T (p.Ser2317Phe) n.7388C>T c.7085C>T (p.Ser2362Phe) c.7082C>T (p.Ser2361Phe) c.7064C>T (p.Ser2355Phe) c.6974C>T (p.Ser2325Phe) c.6836C>T (p.Ser2279Phe) | gnomAD v4 |
| X | g.53568695G>C | CA413162997 | HUWE1 | c.6701C>G (p.Ser2234Cys) c.6704C>G (p.Ser2235Cys) c.6677C>G (p.Ser2226Cys) c.6953C>G (p.Ser2318Cys) c.6950C>G (p.Ser2317Cys) n.7388C>G c.7085C>G (p.Ser2362Cys) c.7082C>G (p.Ser2361Cys) c.7064C>G (p.Ser2355Cys) c.6974C>G (p.Ser2325Cys) c.6836C>G (p.Ser2279Cys) | |
| X | g.53568695G>T | CA413163000 | HUWE1 | c.6701C>A (p.Ser2234Tyr) c.6704C>A (p.Ser2235Tyr) c.6677C>A (p.Ser2226Tyr) c.6953C>A (p.Ser2318Tyr) c.6950C>A (p.Ser2317Tyr) n.7388C>A c.7085C>A (p.Ser2362Tyr) c.7082C>A (p.Ser2361Tyr) c.7064C>A (p.Ser2355Tyr) c.6974C>A (p.Ser2325Tyr) c.6836C>A (p.Ser2279Tyr) | |
| X | g.53568696A>C | CA413163004 | HUWE1 | c.6700T>G (p.Ser2234Ala) c.6703T>G (p.Ser2235Ala) c.6676T>G (p.Ser2226Ala) c.6952T>G (p.Ser2318Ala) c.6949T>G (p.Ser2317Ala) n.7387T>G c.7084T>G (p.Ser2362Ala) c.7081T>G (p.Ser2361Ala) c.7063T>G (p.Ser2355Ala) c.6973T>G (p.Ser2325Ala) c.6835T>G (p.Ser2279Ala) | |
| X | g.53568696A>G | CA413163009 | HUWE1 | c.6700T>C (p.Ser2234Pro) c.6703T>C (p.Ser2235Pro) c.6676T>C (p.Ser2226Pro) c.6952T>C (p.Ser2318Pro) c.6949T>C (p.Ser2317Pro) n.7387T>C c.7084T>C (p.Ser2362Pro) c.7081T>C (p.Ser2361Pro) c.7063T>C (p.Ser2355Pro) c.6973T>C (p.Ser2325Pro) c.6835T>C (p.Ser2279Pro) | |
| X | g.53568696A>T | CA413163005 | HUWE1 | c.6700T>A (p.Ser2234Thr) c.6703T>A (p.Ser2235Thr) c.6676T>A (p.Ser2226Thr) c.6952T>A (p.Ser2318Thr) c.6949T>A (p.Ser2317Thr) n.7387T>A c.7084T>A (p.Ser2362Thr) c.7081T>A (p.Ser2361Thr) c.7063T>A (p.Ser2355Thr) c.6973T>A (p.Ser2325Thr) c.6835T>A (p.Ser2279Thr) | |
| X | g.53568697C>A | CA516433611 | HUWE1 | c.6699G>T (p.Leu2233=) c.6702G>T (p.Leu2234=) c.6675G>T (p.Leu2225=) c.6951G>T (p.Leu2317=) c.6948G>T (p.Leu2316=) n.7386G>T c.7083G>T (p.Leu2361=) c.7080G>T (p.Leu2360=) c.7062G>T (p.Leu2354=) c.6972G>T (p.Leu2324=) c.6834G>T (p.Leu2278=) | |
| X | g.53568697C>G | CA516433612 | HUWE1 | c.6699G>C (p.Leu2233=) c.6702G>C (p.Leu2234=) c.6675G>C (p.Leu2225=) c.6951G>C (p.Leu2317=) c.6948G>C (p.Leu2316=) n.7386G>C c.7083G>C (p.Leu2361=) c.7080G>C (p.Leu2360=) c.7062G>C (p.Leu2354=) c.6972G>C (p.Leu2324=) c.6834G>C (p.Leu2278=) | |
| X | g.53568697C>T | CA516433613 | HUWE1 | c.6699G>A (p.Leu2233=) c.6702G>A (p.Leu2234=) c.6675G>A (p.Leu2225=) c.6951G>A (p.Leu2317=) c.6948G>A (p.Leu2316=) n.7386G>A c.7083G>A (p.Leu2361=) c.7080G>A (p.Leu2360=) c.7062G>A (p.Leu2354=) c.6972G>A (p.Leu2324=) c.6834G>A (p.Leu2278=) | |
| X | g.53568698A>C | CA413163012 | HUWE1 | c.6698T>G (p.Leu2233Arg) c.6701T>G (p.Leu2234Arg) c.6674T>G (p.Leu2225Arg) c.6950T>G (p.Leu2317Arg) c.6947T>G (p.Leu2316Arg) n.7385T>G c.7082T>G (p.Leu2361Arg) c.7079T>G (p.Leu2360Arg) c.7061T>G (p.Leu2354Arg) c.6971T>G (p.Leu2324Arg) c.6833T>G (p.Leu2278Arg) | |
| X | g.53568698A>G | CA413163016 | HUWE1 | c.6698T>C (p.Leu2233Pro) c.6701T>C (p.Leu2234Pro) c.6674T>C (p.Leu2225Pro) c.6950T>C (p.Leu2317Pro) c.6947T>C (p.Leu2316Pro) n.7385T>C c.7082T>C (p.Leu2361Pro) c.7079T>C (p.Leu2360Pro) c.7061T>C (p.Leu2354Pro) c.6971T>C (p.Leu2324Pro) c.6833T>C (p.Leu2278Pro) | |
| X | g.53568698A>T | CA413163014 | HUWE1 | c.6698T>A (p.Leu2233Gln) c.6701T>A (p.Leu2234Gln) c.6674T>A (p.Leu2225Gln) c.6950T>A (p.Leu2317Gln) c.6947T>A (p.Leu2316Gln) n.7385T>A c.7082T>A (p.Leu2361Gln) c.7079T>A (p.Leu2360Gln) c.7061T>A (p.Leu2354Gln) c.6971T>A (p.Leu2324Gln) c.6833T>A (p.Leu2278Gln) | |
| X | g.53568699G>A | CA516433615 | HUWE1 | c.6697C>T (p.Leu2233=) c.6700C>T (p.Leu2234=) c.6673C>T (p.Leu2225=) c.6949C>T (p.Leu2317=) c.6946C>T (p.Leu2316=) n.7384C>T c.7081C>T (p.Leu2361=) c.7078C>T (p.Leu2360=) c.7060C>T (p.Leu2354=) c.6970C>T (p.Leu2324=) c.6832C>T (p.Leu2278=) | dbSNP gnomAD v4 |
| X | g.53568699G>C | CA413163020 | HUWE1 | c.6697C>G (p.Leu2233Val) c.6700C>G (p.Leu2234Val) c.6673C>G (p.Leu2225Val) c.6949C>G (p.Leu2317Val) c.6946C>G (p.Leu2316Val) n.7384C>G c.7081C>G (p.Leu2361Val) c.7078C>G (p.Leu2360Val) c.7060C>G (p.Leu2354Val) c.6970C>G (p.Leu2324Val) c.6832C>G (p.Leu2278Val) | |
| X | g.53568699G= | CA2429880745 | HUWE1 | c.6697C= (p.Leu2233=) c.6700C= (p.Leu2234=) c.6673C= (p.Leu2225=) c.6949C= (p.Leu2317=) c.6946C= (p.Leu2316=) n.7384C= c.7081C= (p.Leu2361=) c.7078C= (p.Leu2360=) c.7060C= (p.Leu2354=) c.6970C= (p.Leu2324=) c.6832C= (p.Leu2278=) | |
| X | g.53568699G>T | CA413163021 | HUWE1 | c.6697C>A (p.Leu2233Met) c.6700C>A (p.Leu2234Met) c.6673C>A (p.Leu2225Met) c.6949C>A (p.Leu2317Met) c.6946C>A (p.Leu2316Met) n.7384C>A c.7081C>A (p.Leu2361Met) c.7078C>A (p.Leu2360Met) c.7060C>A (p.Leu2354Met) c.6970C>A (p.Leu2324Met) c.6832C>A (p.Leu2278Met) | |
| X | g.53568700G>A | CA516433616 | HUWE1 | c.6696C>T (p.Asp2232=) c.6699C>T (p.Asp2233=) c.6672C>T (p.Asp2224=) c.6948C>T (p.Asp2316=) c.6945C>T (p.Asp2315=) n.7383C>T c.7080C>T (p.Asp2360=) c.7077C>T (p.Asp2359=) c.7059C>T (p.Asp2353=) c.6969C>T (p.Asp2323=) c.6831C>T (p.Asp2277=) | |
| X | g.53568700G>C | CA413163023 | HUWE1 | c.6696C>G (p.Asp2232Glu) c.6699C>G (p.Asp2233Glu) c.6672C>G (p.Asp2224Glu) c.6948C>G (p.Asp2316Glu) c.6945C>G (p.Asp2315Glu) n.7383C>G c.7080C>G (p.Asp2360Glu) c.7077C>G (p.Asp2359Glu) c.7059C>G (p.Asp2353Glu) c.6969C>G (p.Asp2323Glu) c.6831C>G (p.Asp2277Glu) | |
| X | g.53568700G= | CA2429880746 | HUWE1 | c.6696C= (p.Asp2232=) c.6699C= (p.Asp2233=) c.6672C= (p.Asp2224=) c.6948C= (p.Asp2316=) c.6945C= (p.Asp2315=) n.7383C= c.7080C= (p.Asp2360=) c.7077C= (p.Asp2359=) c.7059C= (p.Asp2353=) c.6969C= (p.Asp2323=) c.6831C= (p.Asp2277=) | |
| X | g.53568700G>T | CA413163026 | HUWE1 | c.6696C>A (p.Asp2232Glu) c.6699C>A (p.Asp2233Glu) c.6672C>A (p.Asp2224Glu) c.6948C>A (p.Asp2316Glu) c.6945C>A (p.Asp2315Glu) n.7383C>A c.7080C>A (p.Asp2360Glu) c.7077C>A (p.Asp2359Glu) c.7059C>A (p.Asp2353Glu) c.6969C>A (p.Asp2323Glu) c.6831C>A (p.Asp2277Glu) | dbSNP |
| X | g.53568701T>A | CA413163029 | HUWE1 | c.6695A>T (p.Asp2232Val) c.6698A>T (p.Asp2233Val) c.6671A>T (p.Asp2224Val) c.6947A>T (p.Asp2316Val) c.6944A>T (p.Asp2315Val) n.7382A>T c.7079A>T (p.Asp2360Val) c.7076A>T (p.Asp2359Val) c.7058A>T (p.Asp2353Val) c.6968A>T (p.Asp2323Val) c.6830A>T (p.Asp2277Val) | |
| X | g.53568701T>C | CA413163032 | HUWE1 | c.6695A>G (p.Asp2232Gly) c.6698A>G (p.Asp2233Gly) c.6671A>G (p.Asp2224Gly) c.6947A>G (p.Asp2316Gly) c.6944A>G (p.Asp2315Gly) n.7382A>G c.7079A>G (p.Asp2360Gly) c.7076A>G (p.Asp2359Gly) c.7058A>G (p.Asp2353Gly) c.6968A>G (p.Asp2323Gly) c.6830A>G (p.Asp2277Gly) | |
| X | g.53568701T>G | CA413163034 | HUWE1 | c.6695A>C (p.Asp2232Ala) c.6698A>C (p.Asp2233Ala) c.6671A>C (p.Asp2224Ala) c.6947A>C (p.Asp2316Ala) c.6944A>C (p.Asp2315Ala) n.7382A>C c.7079A>C (p.Asp2360Ala) c.7076A>C (p.Asp2359Ala) c.7058A>C (p.Asp2353Ala) c.6968A>C (p.Asp2323Ala) c.6830A>C (p.Asp2277Ala) | |
| X | g.53568702C>A | CA413163038 | HUWE1 | c.6694G>T (p.Asp2232Tyr) c.6697G>T (p.Asp2233Tyr) c.6670G>T (p.Asp2224Tyr) c.6946G>T (p.Asp2316Tyr) c.6943G>T (p.Asp2315Tyr) n.7381G>T c.7078G>T (p.Asp2360Tyr) c.7075G>T (p.Asp2359Tyr) c.7057G>T (p.Asp2353Tyr) c.6967G>T (p.Asp2323Tyr) c.6829G>T (p.Asp2277Tyr) | |
| X | g.53568702C>G | CA413163040 | HUWE1 | c.6694G>C (p.Asp2232His) c.6697G>C (p.Asp2233His) c.6670G>C (p.Asp2224His) c.6946G>C (p.Asp2316His) c.6943G>C (p.Asp2315His) n.7381G>C c.7078G>C (p.Asp2360His) c.7075G>C (p.Asp2359His) c.7057G>C (p.Asp2353His) c.6967G>C (p.Asp2323His) c.6829G>C (p.Asp2277His) | |
| X | g.53568702C>T | CA413163042 | HUWE1 | c.6694G>A (p.Asp2232Asn) c.6697G>A (p.Asp2233Asn) c.6670G>A (p.Asp2224Asn) c.6946G>A (p.Asp2316Asn) c.6943G>A (p.Asp2315Asn) n.7381G>A c.7078G>A (p.Asp2360Asn) c.7075G>A (p.Asp2359Asn) c.7057G>A (p.Asp2353Asn) c.6967G>A (p.Asp2323Asn) c.6829G>A (p.Asp2277Asn) | |
| X | g.53568703T>A | CA10422065 | HUWE1 | c.6693A>T (p.Leu2231Phe) c.6696A>T (p.Leu2232Phe) c.6669A>T (p.Leu2223Phe) c.6945A>T (p.Leu2315Phe) c.6942A>T (p.Leu2314Phe) n.7380A>T c.7077A>T (p.Leu2359Phe) c.7074A>T (p.Leu2358Phe) c.7056A>T (p.Leu2352Phe) c.6966A>T (p.Leu2322Phe) c.6828A>T (p.Leu2276Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.53568703T>C | CA516433617 | HUWE1 | c.6693A>G (p.Leu2231=) c.6696A>G (p.Leu2232=) c.6669A>G (p.Leu2223=) c.6945A>G (p.Leu2315=) c.6942A>G (p.Leu2314=) n.7380A>G c.7077A>G (p.Leu2359=) c.7074A>G (p.Leu2358=) c.7056A>G (p.Leu2352=) c.6966A>G (p.Leu2322=) c.6828A>G (p.Leu2276=) | |
| X | g.53568703T>G | CA413163047 | HUWE1 | c.6693A>C (p.Leu2231Phe) c.6696A>C (p.Leu2232Phe) c.6669A>C (p.Leu2223Phe) c.6945A>C (p.Leu2315Phe) c.6942A>C (p.Leu2314Phe) n.7380A>C c.7077A>C (p.Leu2359Phe) c.7074A>C (p.Leu2358Phe) c.7056A>C (p.Leu2352Phe) c.6966A>C (p.Leu2322Phe) c.6828A>C (p.Leu2276Phe) | |
| X | g.53568703T= | CA2429880747 | HUWE1 | c.6693A= (p.Leu2231=) c.6696A= (p.Leu2232=) c.6669A= (p.Leu2223=) c.6945A= (p.Leu2315=) c.6942A= (p.Leu2314=) n.7380A= c.7077A= (p.Leu2359=) c.7074A= (p.Leu2358=) c.7056A= (p.Leu2352=) c.6966A= (p.Leu2322=) c.6828A= (p.Leu2276=) | |
| X | g.53568704A>C | CA413163050 | HUWE1 | c.6692T>G (p.Leu2231Ter) c.6695T>G (p.Leu2232Ter) c.6668T>G (p.Leu2223Ter) c.6944T>G (p.Leu2315Ter) c.6941T>G (p.Leu2314Ter) n.7379T>G c.7076T>G (p.Leu2359Ter) c.7073T>G (p.Leu2358Ter) c.7055T>G (p.Leu2352Ter) c.6965T>G (p.Leu2322Ter) c.6827T>G (p.Leu2276Ter) | |
| X | g.53568704A>G | CA413163056 | HUWE1 | c.6692T>C (p.Leu2231Ser) c.6695T>C (p.Leu2232Ser) c.6668T>C (p.Leu2223Ser) c.6944T>C (p.Leu2315Ser) c.6941T>C (p.Leu2314Ser) n.7379T>C c.7076T>C (p.Leu2359Ser) c.7073T>C (p.Leu2358Ser) c.7055T>C (p.Leu2352Ser) c.6965T>C (p.Leu2322Ser) c.6827T>C (p.Leu2276Ser) | |
| X | g.53568704A>T | CA413163053 | HUWE1 | c.6692T>A (p.Leu2231Ter) c.6695T>A (p.Leu2232Ter) c.6668T>A (p.Leu2223Ter) c.6944T>A (p.Leu2315Ter) c.6941T>A (p.Leu2314Ter) n.7379T>A c.7076T>A (p.Leu2359Ter) c.7073T>A (p.Leu2358Ter) c.7055T>A (p.Leu2352Ter) c.6965T>A (p.Leu2322Ter) c.6827T>A (p.Leu2276Ter) | |
| X | g.53568705A>C | CA413163058 | HUWE1 | c.6691T>G (p.Leu2231Val) c.6694T>G (p.Leu2232Val) c.6667T>G (p.Leu2223Val) c.6943T>G (p.Leu2315Val) c.6940T>G (p.Leu2314Val) n.7378T>G c.7075T>G (p.Leu2359Val) c.7072T>G (p.Leu2358Val) c.7054T>G (p.Leu2352Val) c.6964T>G (p.Leu2322Val) c.6826T>G (p.Leu2276Val) | |
| X | g.53568705A>G | CA516433619 | HUWE1 | c.6691T>C (p.Leu2231=) c.6694T>C (p.Leu2232=) c.6667T>C (p.Leu2223=) c.6943T>C (p.Leu2315=) c.6940T>C (p.Leu2314=) n.7378T>C c.7075T>C (p.Leu2359=) c.7072T>C (p.Leu2358=) c.7054T>C (p.Leu2352=) c.6964T>C (p.Leu2322=) c.6826T>C (p.Leu2276=) | |
| X | g.53568705A>T | CA413163060 | HUWE1 | c.6691T>A (p.Leu2231Ile) c.6694T>A (p.Leu2232Ile) c.6667T>A (p.Leu2223Ile) c.6943T>A (p.Leu2315Ile) c.6940T>A (p.Leu2314Ile) n.7378T>A c.7075T>A (p.Leu2359Ile) c.7072T>A (p.Leu2358Ile) c.7054T>A (p.Leu2352Ile) c.6964T>A (p.Leu2322Ile) c.6826T>A (p.Leu2276Ile) | |
| X | g.53568706G>A | CA516433620 | HUWE1 | c.6690C>T (p.Ser2230=) c.6693C>T (p.Ser2231=) c.6666C>T (p.Ser2222=) c.6942C>T (p.Ser2314=) c.6939C>T (p.Ser2313=) n.7377C>T c.7074C>T (p.Ser2358=) c.7071C>T (p.Ser2357=) c.7053C>T (p.Ser2351=) c.6963C>T (p.Ser2321=) c.6825C>T (p.Ser2275=) | |
| X | g.53568706G>C | CA413163063 | HUWE1 | c.6690C>G (p.Ser2230Arg) c.6693C>G (p.Ser2231Arg) c.6666C>G (p.Ser2222Arg) c.6942C>G (p.Ser2314Arg) c.6939C>G (p.Ser2313Arg) n.7377C>G c.7074C>G (p.Ser2358Arg) c.7071C>G (p.Ser2357Arg) c.7053C>G (p.Ser2351Arg) c.6963C>G (p.Ser2321Arg) c.6825C>G (p.Ser2275Arg) | |
| X | g.53568706G>T | CA413163064 | HUWE1 | c.6690C>A (p.Ser2230Arg) c.6693C>A (p.Ser2231Arg) c.6666C>A (p.Ser2222Arg) c.6942C>A (p.Ser2314Arg) c.6939C>A (p.Ser2313Arg) n.7377C>A c.7074C>A (p.Ser2358Arg) c.7071C>A (p.Ser2357Arg) c.7053C>A (p.Ser2351Arg) c.6963C>A (p.Ser2321Arg) c.6825C>A (p.Ser2275Arg) | |
| X | g.53568707C>A | CA413163066 | HUWE1 | c.6689G>T (p.Ser2230Ile) c.6692G>T (p.Ser2231Ile) c.6665G>T (p.Ser2222Ile) c.6941G>T (p.Ser2314Ile) c.6938G>T (p.Ser2313Ile) n.7376G>T c.7073G>T (p.Ser2358Ile) c.7070G>T (p.Ser2357Ile) c.7052G>T (p.Ser2351Ile) c.6962G>T (p.Ser2321Ile) c.6824G>T (p.Ser2275Ile) | |
| X | g.53568707C>G | CA413163067 | HUWE1 | c.6689G>C (p.Ser2230Thr) c.6692G>C (p.Ser2231Thr) c.6665G>C (p.Ser2222Thr) c.6941G>C (p.Ser2314Thr) c.6938G>C (p.Ser2313Thr) n.7376G>C c.7073G>C (p.Ser2358Thr) c.7070G>C (p.Ser2357Thr) c.7052G>C (p.Ser2351Thr) c.6962G>C (p.Ser2321Thr) c.6824G>C (p.Ser2275Thr) | |
| X | g.53568707C>T | CA413163070 | HUWE1 | c.6689G>A (p.Ser2230Asn) c.6692G>A (p.Ser2231Asn) c.6665G>A (p.Ser2222Asn) c.6941G>A (p.Ser2314Asn) c.6938G>A (p.Ser2313Asn) n.7376G>A c.7073G>A (p.Ser2358Asn) c.7070G>A (p.Ser2357Asn) c.7052G>A (p.Ser2351Asn) c.6962G>A (p.Ser2321Asn) c.6824G>A (p.Ser2275Asn) | |
| X | g.53568708T>A | CA413163072 | HUWE1 | c.6688A>T (p.Ser2230Cys) c.6691A>T (p.Ser2231Cys) c.6664A>T (p.Ser2222Cys) c.6940A>T (p.Ser2314Cys) c.6937A>T (p.Ser2313Cys) n.7375A>T c.7072A>T (p.Ser2358Cys) c.7069A>T (p.Ser2357Cys) c.7051A>T (p.Ser2351Cys) c.6961A>T (p.Ser2321Cys) c.6823A>T (p.Ser2275Cys) | gnomAD v4 |
| X | g.53568708T>C | CA413163075 | HUWE1 | c.6688A>G (p.Ser2230Gly) c.6691A>G (p.Ser2231Gly) c.6664A>G (p.Ser2222Gly) c.6940A>G (p.Ser2314Gly) c.6937A>G (p.Ser2313Gly) n.7375A>G c.7072A>G (p.Ser2358Gly) c.7069A>G (p.Ser2357Gly) c.7051A>G (p.Ser2351Gly) c.6961A>G (p.Ser2321Gly) c.6823A>G (p.Ser2275Gly) | |
| X | g.53568708T>G | CA413163077 | HUWE1 | c.6688A>C (p.Ser2230Arg) c.6691A>C (p.Ser2231Arg) c.6664A>C (p.Ser2222Arg) c.6940A>C (p.Ser2314Arg) c.6937A>C (p.Ser2313Arg) n.7375A>C c.7072A>C (p.Ser2358Arg) c.7069A>C (p.Ser2357Arg) c.7051A>C (p.Ser2351Arg) c.6961A>C (p.Ser2321Arg) c.6823A>C (p.Ser2275Arg) | |
| X | g.53568709G>A | CA516433621 | HUWE1 | c.6687C>T (p.His2229=) c.6690C>T (p.His2230=) c.6663C>T (p.His2221=) c.6939C>T (p.His2313=) c.6936C>T (p.His2312=) n.7374C>T c.7071C>T (p.His2357=) c.7068C>T (p.His2356=) c.7050C>T (p.His2350=) c.6960C>T (p.His2320=) c.6822C>T (p.His2274=) | gnomAD v4 |
| X | g.53568709G>C | CA413163081 | HUWE1 | c.6687C>G (p.His2229Gln) c.6690C>G (p.His2230Gln) c.6663C>G (p.His2221Gln) c.6939C>G (p.His2313Gln) c.6936C>G (p.His2312Gln) n.7374C>G c.7071C>G (p.His2357Gln) c.7068C>G (p.His2356Gln) c.7050C>G (p.His2350Gln) c.6960C>G (p.His2320Gln) c.6822C>G (p.His2274Gln) | |
| X | g.53568709G>T | CA413163080 | HUWE1 | c.6687C>A (p.His2229Gln) c.6690C>A (p.His2230Gln) c.6663C>A (p.His2221Gln) c.6939C>A (p.His2313Gln) c.6936C>A (p.His2312Gln) n.7374C>A c.7071C>A (p.His2357Gln) c.7068C>A (p.His2356Gln) c.7050C>A (p.His2350Gln) c.6960C>A (p.His2320Gln) c.6822C>A (p.His2274Gln) | |
| X | g.53568710T>A | CA413163085 | HUWE1 | c.6686A>T (p.His2229Leu) c.6689A>T (p.His2230Leu) c.6662A>T (p.His2221Leu) c.6938A>T (p.His2313Leu) c.6935A>T (p.His2312Leu) n.7373A>T c.7070A>T (p.His2357Leu) c.7067A>T (p.His2356Leu) c.7049A>T (p.His2350Leu) c.6959A>T (p.His2320Leu) c.6821A>T (p.His2274Leu) | |
| X | g.53568710T>C | CA413163088 | HUWE1 | c.6686A>G (p.His2229Arg) c.6689A>G (p.His2230Arg) c.6662A>G (p.His2221Arg) c.6938A>G (p.His2313Arg) c.6935A>G (p.His2312Arg) n.7373A>G c.7070A>G (p.His2357Arg) c.7067A>G (p.His2356Arg) c.7049A>G (p.His2350Arg) c.6959A>G (p.His2320Arg) c.6821A>G (p.His2274Arg) | |
| X | g.53568710T>G | CA413163089 | HUWE1 | c.6686A>C (p.His2229Pro) c.6689A>C (p.His2230Pro) c.6662A>C (p.His2221Pro) c.6938A>C (p.His2313Pro) c.6935A>C (p.His2312Pro) n.7373A>C c.7070A>C (p.His2357Pro) c.7067A>C (p.His2356Pro) c.7049A>C (p.His2350Pro) c.6959A>C (p.His2320Pro) c.6821A>C (p.His2274Pro) | |
| X | g.53568711G>A | CA413163091 | HUWE1 | c.6685C>T (p.His2229Tyr) c.6688C>T (p.His2230Tyr) c.6661C>T (p.His2221Tyr) c.6937C>T (p.His2313Tyr) c.6934C>T (p.His2312Tyr) n.7372C>T c.7069C>T (p.His2357Tyr) c.7066C>T (p.His2356Tyr) c.7048C>T (p.His2350Tyr) c.6958C>T (p.His2320Tyr) c.6820C>T (p.His2274Tyr) | |
| X | g.53568711G>C | CA413163093 | HUWE1 | c.6685C>G (p.His2229Asp) c.6688C>G (p.His2230Asp) c.6661C>G (p.His2221Asp) c.6937C>G (p.His2313Asp) c.6934C>G (p.His2312Asp) n.7372C>G c.7069C>G (p.His2357Asp) c.7066C>G (p.His2356Asp) c.7048C>G (p.His2350Asp) c.6958C>G (p.His2320Asp) c.6820C>G (p.His2274Asp) | |
| X | g.53568711G>T | CA413163095 | HUWE1 | c.6685C>A (p.His2229Asn) c.6688C>A (p.His2230Asn) c.6661C>A (p.His2221Asn) c.6937C>A (p.His2313Asn) c.6934C>A (p.His2312Asn) n.7372C>A c.7069C>A (p.His2357Asn) c.7066C>A (p.His2356Asn) c.7048C>A (p.His2350Asn) c.6958C>A (p.His2320Asn) c.6820C>A (p.His2274Asn) | gnomAD v4 |
| X | g.53568712A>C | CA516433622 | HUWE1 | c.6684T>G (p.Pro2228=) c.6687T>G (p.Pro2229=) c.6660T>G (p.Pro2220=) c.6936T>G (p.Pro2312=) c.6933T>G (p.Pro2311=) n.7371T>G c.7068T>G (p.Pro2356=) c.7065T>G (p.Pro2355=) c.7047T>G (p.Pro2349=) c.6957T>G (p.Pro2319=) c.6819T>G (p.Pro2273=) | |
| X | g.53568712A>G | CA516433623 | HUWE1 | c.6684T>C (p.Pro2228=) c.6687T>C (p.Pro2229=) c.6660T>C (p.Pro2220=) c.6936T>C (p.Pro2312=) c.6933T>C (p.Pro2311=) n.7371T>C c.7068T>C (p.Pro2356=) c.7065T>C (p.Pro2355=) c.7047T>C (p.Pro2349=) c.6957T>C (p.Pro2319=) c.6819T>C (p.Pro2273=) | |
| X | g.53568712A>T | CA516433624 | HUWE1 | c.6684T>A (p.Pro2228=) c.6687T>A (p.Pro2229=) c.6660T>A (p.Pro2220=) c.6936T>A (p.Pro2312=) c.6933T>A (p.Pro2311=) n.7371T>A c.7068T>A (p.Pro2356=) c.7065T>A (p.Pro2355=) c.7047T>A (p.Pro2349=) c.6957T>A (p.Pro2319=) c.6819T>A (p.Pro2273=) | |
| X | g.53568713G>A | CA413163099 | HUWE1 | c.6683C>T (p.Pro2228Leu) c.6686C>T (p.Pro2229Leu) c.6659C>T (p.Pro2220Leu) c.6935C>T (p.Pro2312Leu) c.6932C>T (p.Pro2311Leu) n.7370C>T c.7067C>T (p.Pro2356Leu) c.7064C>T (p.Pro2355Leu) c.7046C>T (p.Pro2349Leu) c.6956C>T (p.Pro2319Leu) c.6818C>T (p.Pro2273Leu) | |
| X | g.53568713G>C | CA413163101 | HUWE1 | c.6683C>G (p.Pro2228Arg) c.6686C>G (p.Pro2229Arg) c.6659C>G (p.Pro2220Arg) c.6935C>G (p.Pro2312Arg) c.6932C>G (p.Pro2311Arg) n.7370C>G c.7067C>G (p.Pro2356Arg) c.7064C>G (p.Pro2355Arg) c.7046C>G (p.Pro2349Arg) c.6956C>G (p.Pro2319Arg) c.6818C>G (p.Pro2273Arg) | |
| X | g.53568713G>T | CA413163105 | HUWE1 | c.6683C>A (p.Pro2228His) c.6686C>A (p.Pro2229His) c.6659C>A (p.Pro2220His) c.6935C>A (p.Pro2312His) c.6932C>A (p.Pro2311His) n.7370C>A c.7067C>A (p.Pro2356His) c.7064C>A (p.Pro2355His) c.7046C>A (p.Pro2349His) c.6956C>A (p.Pro2319His) c.6818C>A (p.Pro2273His) | gnomAD v4 |
| X | g.53568714G>A | CA413163108 | HUWE1 | c.6682C>T (p.Pro2228Ser) c.6685C>T (p.Pro2229Ser) c.6658C>T (p.Pro2220Ser) c.6934C>T (p.Pro2312Ser) c.6931C>T (p.Pro2311Ser) n.7369C>T c.7066C>T (p.Pro2356Ser) c.7063C>T (p.Pro2355Ser) c.7045C>T (p.Pro2349Ser) c.6955C>T (p.Pro2319Ser) c.6817C>T (p.Pro2273Ser) | |
| X | g.53568714G>C | CA413163111 | HUWE1 | c.6682C>G (p.Pro2228Ala) c.6685C>G (p.Pro2229Ala) c.6658C>G (p.Pro2220Ala) c.6934C>G (p.Pro2312Ala) c.6931C>G (p.Pro2311Ala) n.7369C>G c.7066C>G (p.Pro2356Ala) c.7063C>G (p.Pro2355Ala) c.7045C>G (p.Pro2349Ala) c.6955C>G (p.Pro2319Ala) c.6817C>G (p.Pro2273Ala) | |
| X | g.53568714G>T | CA413163113 | HUWE1 | c.6682C>A (p.Pro2228Thr) c.6685C>A (p.Pro2229Thr) c.6658C>A (p.Pro2220Thr) c.6934C>A (p.Pro2312Thr) c.6931C>A (p.Pro2311Thr) n.7369C>A c.7066C>A (p.Pro2356Thr) c.7063C>A (p.Pro2355Thr) c.7045C>A (p.Pro2349Thr) c.6955C>A (p.Pro2319Thr) c.6817C>A (p.Pro2273Thr) | |
| X | g.53568715T>A | CA516433627 | HUWE1 | c.6681A>T (p.Val2227=) c.6684A>T (p.Val2228=) c.6657A>T (p.Val2219=) c.6933A>T (p.Val2311=) c.6930A>T (p.Val2310=) n.7368A>T c.7065A>T (p.Val2355=) c.7062A>T (p.Val2354=) c.7044A>T (p.Val2348=) c.6954A>T (p.Val2318=) c.6816A>T (p.Val2272=) | |
| X | g.53568715T>C | CA516433626 | HUWE1 | c.6681A>G (p.Val2227=) c.6684A>G (p.Val2228=) c.6657A>G (p.Val2219=) c.6933A>G (p.Val2311=) c.6930A>G (p.Val2310=) n.7368A>G c.7065A>G (p.Val2355=) c.7062A>G (p.Val2354=) c.7044A>G (p.Val2348=) c.6954A>G (p.Val2318=) c.6816A>G (p.Val2272=) | |
| X | g.53568715T>G | CA516433625 | HUWE1 | c.6681A>C (p.Val2227=) c.6684A>C (p.Val2228=) c.6657A>C (p.Val2219=) c.6933A>C (p.Val2311=) c.6930A>C (p.Val2310=) n.7368A>C c.7065A>C (p.Val2355=) c.7062A>C (p.Val2354=) c.7044A>C (p.Val2348=) c.6954A>C (p.Val2318=) c.6816A>C (p.Val2272=) | |
| X | g.53568716A>C | CA413163117 | HUWE1 | c.6680T>G (p.Val2227Gly) c.6683T>G (p.Val2228Gly) c.6656T>G (p.Val2219Gly) c.6932T>G (p.Val2311Gly) c.6929T>G (p.Val2310Gly) n.7367T>G c.7064T>G (p.Val2355Gly) c.7061T>G (p.Val2354Gly) c.7043T>G (p.Val2348Gly) c.6953T>G (p.Val2318Gly) c.6815T>G (p.Val2272Gly) | |
| X | g.53568716A>G | CA413163123 | HUWE1 | c.6680T>C (p.Val2227Ala) c.6683T>C (p.Val2228Ala) c.6656T>C (p.Val2219Ala) c.6932T>C (p.Val2311Ala) c.6929T>C (p.Val2310Ala) n.7367T>C c.7064T>C (p.Val2355Ala) c.7061T>C (p.Val2354Ala) c.7043T>C (p.Val2348Ala) c.6953T>C (p.Val2318Ala) c.6815T>C (p.Val2272Ala) | |
| X | g.53568716A>T | CA413163115 | HUWE1 | c.6680T>A (p.Val2227Glu) c.6683T>A (p.Val2228Glu) c.6656T>A (p.Val2219Glu) c.6932T>A (p.Val2311Glu) c.6929T>A (p.Val2310Glu) n.7367T>A c.7064T>A (p.Val2355Glu) c.7061T>A (p.Val2354Glu) c.7043T>A (p.Val2348Glu) c.6953T>A (p.Val2318Glu) c.6815T>A (p.Val2272Glu) | |
| X | g.53568717C>A | CA413163125 | HUWE1 | c.6679G>T (p.Val2227Leu) c.6682G>T (p.Val2228Leu) c.6655G>T (p.Val2219Leu) c.6931G>T (p.Val2311Leu) c.6928G>T (p.Val2310Leu) n.7366G>T c.7063G>T (p.Val2355Leu) c.7060G>T (p.Val2354Leu) c.7042G>T (p.Val2348Leu) c.6952G>T (p.Val2318Leu) c.6814G>T (p.Val2272Leu) | |
| X | g.53568717C= | CA2429880748 | HUWE1 | c.6679G= (p.Val2227=) c.6682G= (p.Val2228=) c.6655G= (p.Val2219=) c.6931G= (p.Val2311=) c.6928G= (p.Val2310=) n.7366G= c.7063G= (p.Val2355=) c.7060G= (p.Val2354=) c.7042G= (p.Val2348=) c.6952G= (p.Val2318=) c.6814G= (p.Val2272=) | |
| X | g.53568717C>G | CA413163126 | HUWE1 | c.6679G>C (p.Val2227Leu) c.6682G>C (p.Val2228Leu) c.6655G>C (p.Val2219Leu) c.6931G>C (p.Val2311Leu) c.6928G>C (p.Val2310Leu) n.7366G>C c.7063G>C (p.Val2355Leu) c.7060G>C (p.Val2354Leu) c.7042G>C (p.Val2348Leu) c.6952G>C (p.Val2318Leu) c.6814G>C (p.Val2272Leu) | |
| X | g.53568717C>T | CA10422066 | HUWE1 | c.6679G>A (p.Val2227Ile) c.6682G>A (p.Val2228Ile) c.6655G>A (p.Val2219Ile) c.6931G>A (p.Val2311Ile) c.6928G>A (p.Val2310Ile) n.7366G>A c.7063G>A (p.Val2355Ile) c.7060G>A (p.Val2354Ile) c.7042G>A (p.Val2348Ile) c.6952G>A (p.Val2318Ile) c.6814G>A (p.Val2272Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.53568718T>A | CA413163129 | HUWE1 | c.6678A>T (p.Arg2226Ser) c.6681A>T (p.Arg2227Ser) c.6654A>T (p.Arg2218Ser) c.6930A>T (p.Arg2310Ser) c.6927A>T (p.Arg2309Ser) n.7365A>T c.7062A>T (p.Arg2354Ser) c.7059A>T (p.Arg2353Ser) c.7041A>T (p.Arg2347Ser) c.6951A>T (p.Arg2317Ser) c.6813A>T (p.Arg2271Ser) | |
| X | g.53568718T>C | CA516433628 | HUWE1 | c.6678A>G (p.Arg2226=) c.6681A>G (p.Arg2227=) c.6654A>G (p.Arg2218=) c.6930A>G (p.Arg2310=) c.6927A>G (p.Arg2309=) n.7365A>G c.7062A>G (p.Arg2354=) c.7059A>G (p.Arg2353=) c.7041A>G (p.Arg2347=) c.6951A>G (p.Arg2317=) c.6813A>G (p.Arg2271=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.53568718T>G | CA413163132 | HUWE1 | c.6678A>C (p.Arg2226Ser) c.6681A>C (p.Arg2227Ser) c.6654A>C (p.Arg2218Ser) c.6930A>C (p.Arg2310Ser) c.6927A>C (p.Arg2309Ser) n.7365A>C c.7062A>C (p.Arg2354Ser) c.7059A>C (p.Arg2353Ser) c.7041A>C (p.Arg2347Ser) c.6951A>C (p.Arg2317Ser) c.6813A>C (p.Arg2271Ser) | |
| X | g.53568718T= | CA2429880749 | HUWE1 | c.6678A= (p.Arg2226=) c.6681A= (p.Arg2227=) c.6654A= (p.Arg2218=) c.6930A= (p.Arg2310=) c.6927A= (p.Arg2309=) n.7365A= c.7062A= (p.Arg2354=) c.7059A= (p.Arg2353=) c.7041A= (p.Arg2347=) c.6951A= (p.Arg2317=) c.6813A= (p.Arg2271=) | |
| X | g.53568719C>A | CA413163138 | HUWE1 | c.6677G>T (p.Arg2226Ile) c.6680G>T (p.Arg2227Ile) c.6653G>T (p.Arg2218Ile) c.6929G>T (p.Arg2310Ile) c.6926G>T (p.Arg2309Ile) n.7364G>T c.7061G>T (p.Arg2354Ile) c.7058G>T (p.Arg2353Ile) c.7040G>T (p.Arg2347Ile) c.6950G>T (p.Arg2317Ile) c.6812G>T (p.Arg2271Ile) | |
| X | g.53568719C>G | CA413163134 | HUWE1 | c.6677G>C (p.Arg2226Thr) c.6680G>C (p.Arg2227Thr) c.6653G>C (p.Arg2218Thr) c.6929G>C (p.Arg2310Thr) c.6926G>C (p.Arg2309Thr) n.7364G>C c.7061G>C (p.Arg2354Thr) c.7058G>C (p.Arg2353Thr) c.7040G>C (p.Arg2347Thr) c.6950G>C (p.Arg2317Thr) c.6812G>C (p.Arg2271Thr) | |
| X | g.53568719C>T | CA413163136 | HUWE1 | c.6677G>A (p.Arg2226Lys) c.6680G>A (p.Arg2227Lys) c.6653G>A (p.Arg2218Lys) c.6929G>A (p.Arg2310Lys) c.6926G>A (p.Arg2309Lys) n.7364G>A c.7061G>A (p.Arg2354Lys) c.7058G>A (p.Arg2353Lys) c.7040G>A (p.Arg2347Lys) c.6950G>A (p.Arg2317Lys) c.6812G>A (p.Arg2271Lys) | |
| X | g.53568720T>A | CA413163140 | HUWE1 | c.6676A>T (p.Arg2226Ter) c.6679A>T (p.Arg2227Ter) c.6652A>T (p.Arg2218Ter) c.6928A>T (p.Arg2310Ter) c.6925A>T (p.Arg2309Ter) n.7363A>T c.7060A>T (p.Arg2354Ter) c.7057A>T (p.Arg2353Ter) c.7039A>T (p.Arg2347Ter) c.6949A>T (p.Arg2317Ter) c.6811A>T (p.Arg2271Ter) | |
| X | g.53568720T>C | CA413163141 | HUWE1 | c.6676A>G (p.Arg2226Gly) c.6679A>G (p.Arg2227Gly) c.6652A>G (p.Arg2218Gly) c.6928A>G (p.Arg2310Gly) c.6925A>G (p.Arg2309Gly) n.7363A>G c.7060A>G (p.Arg2354Gly) c.7057A>G (p.Arg2353Gly) c.7039A>G (p.Arg2347Gly) c.6949A>G (p.Arg2317Gly) c.6811A>G (p.Arg2271Gly) | |
| X | g.53568720T>G | CA516433629 | HUWE1 | c.6676A>C (p.Arg2226=) c.6679A>C (p.Arg2227=) c.6652A>C (p.Arg2218=) c.6928A>C (p.Arg2310=) c.6925A>C (p.Arg2309=) n.7363A>C c.7060A>C (p.Arg2354=) c.7057A>C (p.Arg2353=) c.7039A>C (p.Arg2347=) c.6949A>C (p.Arg2317=) c.6811A>C (p.Arg2271=) | |
| X | g.53568721G>A | CA516433630 | HUWE1 | c.6675C>T (p.Ala2225=) c.6678C>T (p.Ala2226=) c.6651C>T (p.Ala2217=) c.6927C>T (p.Ala2309=) c.6924C>T (p.Ala2308=) n.7362C>T c.7059C>T (p.Ala2353=) c.7056C>T (p.Ala2352=) c.7038C>T (p.Ala2346=) c.6948C>T (p.Ala2316=) c.6810C>T (p.Ala2270=) | |
| X | g.53568721G>C | CA516433632 | HUWE1 | c.6675C>G (p.Ala2225=) c.6678C>G (p.Ala2226=) c.6651C>G (p.Ala2217=) c.6927C>G (p.Ala2309=) c.6924C>G (p.Ala2308=) n.7362C>G c.7059C>G (p.Ala2353=) c.7056C>G (p.Ala2352=) c.7038C>G (p.Ala2346=) c.6948C>G (p.Ala2316=) c.6810C>G (p.Ala2270=) | |
| X | g.53568721G>T | CA516433631 | HUWE1 | c.6675C>A (p.Ala2225=) c.6678C>A (p.Ala2226=) c.6651C>A (p.Ala2217=) c.6927C>A (p.Ala2309=) c.6924C>A (p.Ala2308=) n.7362C>A c.7059C>A (p.Ala2353=) c.7056C>A (p.Ala2352=) c.7038C>A (p.Ala2346=) c.6948C>A (p.Ala2316=) c.6810C>A (p.Ala2270=) | |
| X | g.53568722G>A | CA413163144 | HUWE1 | c.6674C>T (p.Ala2225Val) c.6677C>T (p.Ala2226Val) c.6650C>T (p.Ala2217Val) c.6926C>T (p.Ala2309Val) c.6923C>T (p.Ala2308Val) n.7361C>T c.7058C>T (p.Ala2353Val) c.7055C>T (p.Ala2352Val) c.7037C>T (p.Ala2346Val) c.6947C>T (p.Ala2316Val) c.6809C>T (p.Ala2270Val) | |
| X | g.53568722G>C | CA413163146 | HUWE1 | c.6674C>G (p.Ala2225Gly) c.6677C>G (p.Ala2226Gly) c.6650C>G (p.Ala2217Gly) c.6926C>G (p.Ala2309Gly) c.6923C>G (p.Ala2308Gly) n.7361C>G c.7058C>G (p.Ala2353Gly) c.7055C>G (p.Ala2352Gly) c.7037C>G (p.Ala2346Gly) c.6947C>G (p.Ala2316Gly) c.6809C>G (p.Ala2270Gly) | |
| X | g.53568722G>T | CA413163149 | HUWE1 | c.6674C>A (p.Ala2225Asp) c.6677C>A (p.Ala2226Asp) c.6650C>A (p.Ala2217Asp) c.6926C>A (p.Ala2309Asp) c.6923C>A (p.Ala2308Asp) n.7361C>A c.7058C>A (p.Ala2353Asp) c.7055C>A (p.Ala2352Asp) c.7037C>A (p.Ala2346Asp) c.6947C>A (p.Ala2316Asp) c.6809C>A (p.Ala2270Asp) | |
| X | g.53568723C>A | CA413163152 | HUWE1 | c.6673G>T (p.Ala2225Ser) c.6676G>T (p.Ala2226Ser) c.6649G>T (p.Ala2217Ser) c.6925G>T (p.Ala2309Ser) c.6922G>T (p.Ala2308Ser) n.7360G>T c.7057G>T (p.Ala2353Ser) c.7054G>T (p.Ala2352Ser) c.7036G>T (p.Ala2346Ser) c.6946G>T (p.Ala2316Ser) c.6808G>T (p.Ala2270Ser) | |
| X | g.53568723C>G | CA413163157 | HUWE1 | c.6673G>C (p.Ala2225Pro) c.6676G>C (p.Ala2226Pro) c.6649G>C (p.Ala2217Pro) c.6925G>C (p.Ala2309Pro) c.6922G>C (p.Ala2308Pro) n.7360G>C c.7057G>C (p.Ala2353Pro) c.7054G>C (p.Ala2352Pro) c.7036G>C (p.Ala2346Pro) c.6946G>C (p.Ala2316Pro) c.6808G>C (p.Ala2270Pro) | |
| X | g.53568723C>T | CA413163155 | HUWE1 | c.6673G>A (p.Ala2225Thr) c.6676G>A (p.Ala2226Thr) c.6649G>A (p.Ala2217Thr) c.6925G>A (p.Ala2309Thr) c.6922G>A (p.Ala2308Thr) n.7360G>A c.7057G>A (p.Ala2353Thr) c.7054G>A (p.Ala2352Thr) c.7036G>A (p.Ala2346Thr) c.6946G>A (p.Ala2316Thr) c.6808G>A (p.Ala2270Thr) | |
| X | g.53568724C>A | CA516433633 | HUWE1 | c.6672G>T (p.Leu2224=) c.6675G>T (p.Leu2225=) c.6648G>T (p.Leu2216=) c.6924G>T (p.Leu2308=) c.6921G>T (p.Leu2307=) n.7359G>T c.7056G>T (p.Leu2352=) c.7053G>T (p.Leu2351=) c.7035G>T (p.Leu2345=) c.6945G>T (p.Leu2315=) c.6807G>T (p.Leu2269=) | |
| X | g.53568724C>G | CA516433634 | HUWE1 | c.6672G>C (p.Leu2224=) c.6675G>C (p.Leu2225=) c.6648G>C (p.Leu2216=) c.6924G>C (p.Leu2308=) c.6921G>C (p.Leu2307=) n.7359G>C c.7056G>C (p.Leu2352=) c.7053G>C (p.Leu2351=) c.7035G>C (p.Leu2345=) c.6945G>C (p.Leu2315=) c.6807G>C (p.Leu2269=) | |
| X | g.53568724C>T | CA516433635 | HUWE1 | c.6672G>A (p.Leu2224=) c.6675G>A (p.Leu2225=) c.6648G>A (p.Leu2216=) c.6924G>A (p.Leu2308=) c.6921G>A (p.Leu2307=) n.7359G>A c.7056G>A (p.Leu2352=) c.7053G>A (p.Leu2351=) c.7035G>A (p.Leu2345=) c.6945G>A (p.Leu2315=) c.6807G>A (p.Leu2269=) | |
| X | g.53568725A>C | CA413163160 | HUWE1 | c.6671T>G (p.Leu2224Arg) c.6674T>G (p.Leu2225Arg) c.6647T>G (p.Leu2216Arg) c.6923T>G (p.Leu2308Arg) c.6920T>G (p.Leu2307Arg) n.7358T>G c.7055T>G (p.Leu2352Arg) c.7052T>G (p.Leu2351Arg) c.7034T>G (p.Leu2345Arg) c.6944T>G (p.Leu2315Arg) c.6806T>G (p.Leu2269Arg) | |
| X | g.53568725A>G | CA413163165 | HUWE1 | c.6671T>C (p.Leu2224Pro) c.6674T>C (p.Leu2225Pro) c.6647T>C (p.Leu2216Pro) c.6923T>C (p.Leu2308Pro) c.6920T>C (p.Leu2307Pro) n.7358T>C c.7055T>C (p.Leu2352Pro) c.7052T>C (p.Leu2351Pro) c.7034T>C (p.Leu2345Pro) c.6944T>C (p.Leu2315Pro) c.6806T>C (p.Leu2269Pro) | |
| X | g.53568725A>T | CA413163162 | HUWE1 | c.6671T>A (p.Leu2224Gln) c.6674T>A (p.Leu2225Gln) c.6647T>A (p.Leu2216Gln) c.6923T>A (p.Leu2308Gln) c.6920T>A (p.Leu2307Gln) n.7358T>A c.7055T>A (p.Leu2352Gln) c.7052T>A (p.Leu2351Gln) c.7034T>A (p.Leu2345Gln) c.6944T>A (p.Leu2315Gln) c.6806T>A (p.Leu2269Gln) | |
| X | g.53568726G>A | CA516433636 | HUWE1 | c.6670C>T (p.Leu2224=) c.6673C>T (p.Leu2225=) c.6646C>T (p.Leu2216=) c.6922C>T (p.Leu2308=) c.6919C>T (p.Leu2307=) n.7357C>T c.7054C>T (p.Leu2352=) c.7051C>T (p.Leu2351=) c.7033C>T (p.Leu2345=) c.6943C>T (p.Leu2315=) c.6805C>T (p.Leu2269=) | dbSNP gnomAD v4 |
| X | g.53568726G>C | CA413163168 | HUWE1 | c.6670C>G (p.Leu2224Val) c.6673C>G (p.Leu2225Val) c.6646C>G (p.Leu2216Val) c.6922C>G (p.Leu2308Val) c.6919C>G (p.Leu2307Val) n.7357C>G c.7054C>G (p.Leu2352Val) c.7051C>G (p.Leu2351Val) c.7033C>G (p.Leu2345Val) c.6943C>G (p.Leu2315Val) c.6805C>G (p.Leu2269Val) | |
| X | g.53568726G>T | CA413163171 | HUWE1 | c.6670C>A (p.Leu2224Met) c.6673C>A (p.Leu2225Met) c.6646C>A (p.Leu2216Met) c.6922C>A (p.Leu2308Met) c.6919C>A (p.Leu2307Met) n.7357C>A c.7054C>A (p.Leu2352Met) c.7051C>A (p.Leu2351Met) c.7033C>A (p.Leu2345Met) c.6943C>A (p.Leu2315Met) c.6805C>A (p.Leu2269Met) | |
| X | g.53568727G>A | CA516433637 | HUWE1 | c.6669C>T (p.Asp2223=) c.6672C>T (p.Asp2224=) c.6645C>T (p.Asp2215=) c.6921C>T (p.Asp2307=) c.6918C>T (p.Asp2306=) n.7356C>T c.7053C>T (p.Asp2351=) c.7050C>T (p.Asp2350=) c.7032C>T (p.Asp2344=) c.6942C>T (p.Asp2314=) c.6804C>T (p.Asp2268=) | |
| X | g.53568727G>C | CA413163173 | HUWE1 | c.6669C>G (p.Asp2223Glu) c.6672C>G (p.Asp2224Glu) c.6645C>G (p.Asp2215Glu) c.6921C>G (p.Asp2307Glu) c.6918C>G (p.Asp2306Glu) n.7356C>G c.7053C>G (p.Asp2351Glu) c.7050C>G (p.Asp2350Glu) c.7032C>G (p.Asp2344Glu) c.6942C>G (p.Asp2314Glu) c.6804C>G (p.Asp2268Glu) | |
| X | g.53568727G>T | CA413163176 | HUWE1 | c.6669C>A (p.Asp2223Glu) c.6672C>A (p.Asp2224Glu) c.6645C>A (p.Asp2215Glu) c.6921C>A (p.Asp2307Glu) c.6918C>A (p.Asp2306Glu) n.7356C>A c.7053C>A (p.Asp2351Glu) c.7050C>A (p.Asp2350Glu) c.7032C>A (p.Asp2344Glu) c.6942C>A (p.Asp2314Glu) c.6804C>A (p.Asp2268Glu) | |
| X | g.53568728T>A | CA413163178 | HUWE1 | c.6668A>T (p.Asp2223Val) c.6671A>T (p.Asp2224Val) c.6644A>T (p.Asp2215Val) c.6920A>T (p.Asp2307Val) c.6917A>T (p.Asp2306Val) n.7355A>T c.7052A>T (p.Asp2351Val) c.7049A>T (p.Asp2350Val) c.7031A>T (p.Asp2344Val) c.6941A>T (p.Asp2314Val) c.6803A>T (p.Asp2268Val) | |
| X | g.53568728T>C | CA413163179 | HUWE1 | c.6668A>G (p.Asp2223Gly) c.6671A>G (p.Asp2224Gly) c.6644A>G (p.Asp2215Gly) c.6920A>G (p.Asp2307Gly) c.6917A>G (p.Asp2306Gly) n.7355A>G c.7052A>G (p.Asp2351Gly) c.7049A>G (p.Asp2350Gly) c.7031A>G (p.Asp2344Gly) c.6941A>G (p.Asp2314Gly) c.6803A>G (p.Asp2268Gly) | |
| X | g.53568728T>G | CA413163182 | HUWE1 | c.6668A>C (p.Asp2223Ala) c.6671A>C (p.Asp2224Ala) c.6644A>C (p.Asp2215Ala) c.6920A>C (p.Asp2307Ala) c.6917A>C (p.Asp2306Ala) n.7355A>C c.7052A>C (p.Asp2351Ala) c.7049A>C (p.Asp2350Ala) c.7031A>C (p.Asp2344Ala) c.6941A>C (p.Asp2314Ala) c.6803A>C (p.Asp2268Ala) | |
| X | g.53568729C>A | CA413163186 | HUWE1 | c.6667G>T (p.Asp2223Tyr) c.6670G>T (p.Asp2224Tyr) c.6643G>T (p.Asp2215Tyr) c.6919G>T (p.Asp2307Tyr) c.6916G>T (p.Asp2306Tyr) n.7354G>T c.7051G>T (p.Asp2351Tyr) c.7048G>T (p.Asp2350Tyr) c.7030G>T (p.Asp2344Tyr) c.6940G>T (p.Asp2314Tyr) c.6802G>T (p.Asp2268Tyr) | |
| X | g.53568729C>G | CA413163187 | HUWE1 | c.6667G>C (p.Asp2223His) c.6670G>C (p.Asp2224His) c.6643G>C (p.Asp2215His) c.6919G>C (p.Asp2307His) c.6916G>C (p.Asp2306His) n.7354G>C c.7051G>C (p.Asp2351His) c.7048G>C (p.Asp2350His) c.7030G>C (p.Asp2344His) c.6940G>C (p.Asp2314His) c.6802G>C (p.Asp2268His) | |
| X | g.53568729C>T | CA413163190 | HUWE1 | c.6667G>A (p.Asp2223Asn) c.6670G>A (p.Asp2224Asn) c.6643G>A (p.Asp2215Asn) c.6919G>A (p.Asp2307Asn) c.6916G>A (p.Asp2306Asn) n.7354G>A c.7051G>A (p.Asp2351Asn) c.7048G>A (p.Asp2350Asn) c.7030G>A (p.Asp2344Asn) c.6940G>A (p.Asp2314Asn) c.6802G>A (p.Asp2268Asn) | |
| X | g.53568730A>C | CA413163196 | HUWE1 | c.6666T>G (p.Asn2222Lys) c.6669T>G (p.Asn2223Lys) c.6642T>G (p.Asn2214Lys) c.6918T>G (p.Asn2306Lys) c.6915T>G (p.Asn2305Lys) n.7353T>G c.7050T>G (p.Asn2350Lys) c.7047T>G (p.Asn2349Lys) c.7029T>G (p.Asn2343Lys) c.6939T>G (p.Asn2313Lys) c.6801T>G (p.Asn2267Lys) | |
| X | g.53568730A>G | CA516433638 | HUWE1 | c.6666T>C (p.Asn2222=) c.6669T>C (p.Asn2223=) c.6642T>C (p.Asn2214=) c.6918T>C (p.Asn2306=) c.6915T>C (p.Asn2305=) n.7353T>C c.7050T>C (p.Asn2350=) c.7047T>C (p.Asn2349=) c.7029T>C (p.Asn2343=) c.6939T>C (p.Asn2313=) c.6801T>C (p.Asn2267=) | |
| X | g.53568730A>T | CA413163193 | HUWE1 | c.6666T>A (p.Asn2222Lys) c.6669T>A (p.Asn2223Lys) c.6642T>A (p.Asn2214Lys) c.6918T>A (p.Asn2306Lys) c.6915T>A (p.Asn2305Lys) n.7353T>A c.7050T>A (p.Asn2350Lys) c.7047T>A (p.Asn2349Lys) c.7029T>A (p.Asn2343Lys) c.6939T>A (p.Asn2313Lys) c.6801T>A (p.Asn2267Lys) | |
| X | g.53568731T>A | CA413163199 | HUWE1 | c.6665A>T (p.Asn2222Ile) c.6668A>T (p.Asn2223Ile) c.6641A>T (p.Asn2214Ile) c.6917A>T (p.Asn2306Ile) c.6914A>T (p.Asn2305Ile) n.7352A>T c.7049A>T (p.Asn2350Ile) c.7046A>T (p.Asn2349Ile) c.7028A>T (p.Asn2343Ile) c.6938A>T (p.Asn2313Ile) c.6800A>T (p.Asn2267Ile) | |
| X | g.53568731T>C | CA413163201 | HUWE1 | c.6665A>G (p.Asn2222Ser) c.6668A>G (p.Asn2223Ser) c.6641A>G (p.Asn2214Ser) c.6917A>G (p.Asn2306Ser) c.6914A>G (p.Asn2305Ser) n.7352A>G c.7049A>G (p.Asn2350Ser) c.7046A>G (p.Asn2349Ser) c.7028A>G (p.Asn2343Ser) c.6938A>G (p.Asn2313Ser) c.6800A>G (p.Asn2267Ser) | |
| X | g.53568731T>G | CA413163204 | HUWE1 | c.6665A>C (p.Asn2222Thr) c.6668A>C (p.Asn2223Thr) c.6641A>C (p.Asn2214Thr) c.6917A>C (p.Asn2306Thr) c.6914A>C (p.Asn2305Thr) n.7352A>C c.7049A>C (p.Asn2350Thr) c.7046A>C (p.Asn2349Thr) c.7028A>C (p.Asn2343Thr) c.6938A>C (p.Asn2313Thr) c.6800A>C (p.Asn2267Thr) | |
| X | g.53568732T>A | CA413163208 | HUWE1 | c.6664A>T (p.Asn2222Tyr) c.6667A>T (p.Asn2223Tyr) c.6640A>T (p.Asn2214Tyr) c.6916A>T (p.Asn2306Tyr) c.6913A>T (p.Asn2305Tyr) n.7351A>T c.7048A>T (p.Asn2350Tyr) c.7045A>T (p.Asn2349Tyr) c.7027A>T (p.Asn2343Tyr) c.6937A>T (p.Asn2313Tyr) c.6799A>T (p.Asn2267Tyr) | |
| X | g.53568732T>C | CA413163211 | HUWE1 | c.6664A>G (p.Asn2222Asp) c.6667A>G (p.Asn2223Asp) c.6640A>G (p.Asn2214Asp) c.6916A>G (p.Asn2306Asp) c.6913A>G (p.Asn2305Asp) n.7351A>G c.7048A>G (p.Asn2350Asp) c.7045A>G (p.Asn2349Asp) c.7027A>G (p.Asn2343Asp) c.6937A>G (p.Asn2313Asp) c.6799A>G (p.Asn2267Asp) | |
| X | g.53568732T>G | CA413163213 | HUWE1 | c.6664A>C (p.Asn2222His) c.6667A>C (p.Asn2223His) c.6640A>C (p.Asn2214His) c.6916A>C (p.Asn2306His) c.6913A>C (p.Asn2305His) n.7351A>C c.7048A>C (p.Asn2350His) c.7045A>C (p.Asn2349His) c.7027A>C (p.Asn2343His) c.6937A>C (p.Asn2313His) c.6799A>C (p.Asn2267His) | |
| X | g.53568733A>C | CA516433639 | HUWE1 | c.6663T>G (p.Val2221=) c.6666T>G (p.Val2222=) c.6639T>G (p.Val2213=) c.6915T>G (p.Val2305=) c.6912T>G (p.Val2304=) n.7350T>G c.7047T>G (p.Val2349=) c.7044T>G (p.Val2348=) c.7026T>G (p.Val2342=) c.6936T>G (p.Val2312=) c.6798T>G (p.Val2266=) | |
| X | g.53568733A>G | CA516433640 | HUWE1 | c.6663T>C (p.Val2221=) c.6666T>C (p.Val2222=) c.6639T>C (p.Val2213=) c.6915T>C (p.Val2305=) c.6912T>C (p.Val2304=) n.7350T>C c.7047T>C (p.Val2349=) c.7044T>C (p.Val2348=) c.7026T>C (p.Val2342=) c.6936T>C (p.Val2312=) c.6798T>C (p.Val2266=) | |
| X | g.53568733A>T | CA516433641 | HUWE1 | c.6663T>A (p.Val2221=) c.6666T>A (p.Val2222=) c.6639T>A (p.Val2213=) c.6915T>A (p.Val2305=) c.6912T>A (p.Val2304=) n.7350T>A c.7047T>A (p.Val2349=) c.7044T>A (p.Val2348=) c.7026T>A (p.Val2342=) c.6936T>A (p.Val2312=) c.6798T>A (p.Val2266=) | |
| X | g.53568734A>C | CA413163215 | HUWE1 | c.6662T>G (p.Val2221Gly) c.6665T>G (p.Val2222Gly) c.6638T>G (p.Val2213Gly) c.6914T>G (p.Val2305Gly) c.6911T>G (p.Val2304Gly) n.7349T>G c.7046T>G (p.Val2349Gly) c.7043T>G (p.Val2348Gly) c.7025T>G (p.Val2342Gly) c.6935T>G (p.Val2312Gly) c.6797T>G (p.Val2266Gly) | |
| X | g.53568734A>G | CA413163220 | HUWE1 | c.6662T>C (p.Val2221Ala) c.6665T>C (p.Val2222Ala) c.6638T>C (p.Val2213Ala) c.6914T>C (p.Val2305Ala) c.6911T>C (p.Val2304Ala) n.7349T>C c.7046T>C (p.Val2349Ala) c.7043T>C (p.Val2348Ala) c.7025T>C (p.Val2342Ala) c.6935T>C (p.Val2312Ala) c.6797T>C (p.Val2266Ala) | |
| X | g.53568734A>T | CA413163218 | HUWE1 | c.6662T>A (p.Val2221Asp) c.6665T>A (p.Val2222Asp) c.6638T>A (p.Val2213Asp) c.6914T>A (p.Val2305Asp) c.6911T>A (p.Val2304Asp) n.7349T>A c.7046T>A (p.Val2349Asp) c.7043T>A (p.Val2348Asp) c.7025T>A (p.Val2342Asp) c.6935T>A (p.Val2312Asp) c.6797T>A (p.Val2266Asp) | |
| X | g.53568735C>A | CA16609195 | HUWE1 | c.6661G>T (p.Val2221Phe) c.6664G>T (p.Val2222Phe) c.6637G>T (p.Val2213Phe) c.6913G>T (p.Val2305Phe) c.6910G>T (p.Val2304Phe) n.7348G>T c.7045G>T (p.Val2349Phe) c.7042G>T (p.Val2348Phe) c.7024G>T (p.Val2342Phe) c.6934G>T (p.Val2312Phe) c.6796G>T (p.Val2266Phe) | ClinVar dbSNP |
| X | g.53568735C= | CA2429880750 | HUWE1 | c.6661G= (p.Val2221=) c.6664G= (p.Val2222=) c.6637G= (p.Val2213=) c.6913G= (p.Val2305=) c.6910G= (p.Val2304=) n.7348G= c.7045G= (p.Val2349=) c.7042G= (p.Val2348=) c.7024G= (p.Val2342=) c.6934G= (p.Val2312=) c.6796G= (p.Val2266=) | |
| X | g.53568735C>G | CA413163223 | HUWE1 | c.6661G>C (p.Val2221Leu) c.6664G>C (p.Val2222Leu) c.6637G>C (p.Val2213Leu) c.6913G>C (p.Val2305Leu) c.6910G>C (p.Val2304Leu) n.7348G>C c.7045G>C (p.Val2349Leu) c.7042G>C (p.Val2348Leu) c.7024G>C (p.Val2342Leu) c.6934G>C (p.Val2312Leu) c.6796G>C (p.Val2266Leu) | |
| X | g.53568735C>T | CA413163225 | HUWE1 | c.6661G>A (p.Val2221Ile) c.6664G>A (p.Val2222Ile) c.6637G>A (p.Val2213Ile) c.6913G>A (p.Val2305Ile) c.6910G>A (p.Val2304Ile) n.7348G>A c.7045G>A (p.Val2349Ile) c.7042G>A (p.Val2348Ile) c.7024G>A (p.Val2342Ile) c.6934G>A (p.Val2312Ile) c.6796G>A (p.Val2266Ile) | |
| X | g.53568736C>A | CA516433642 | HUWE1 | c.6660G>T (p.Leu2220=) c.6663G>T (p.Leu2221=) c.6636G>T (p.Leu2212=) c.6912G>T (p.Leu2304=) c.6909G>T (p.Leu2303=) n.7347G>T c.7044G>T (p.Leu2348=) c.7041G>T (p.Leu2347=) c.7023G>T (p.Leu2341=) c.6933G>T (p.Leu2311=) c.6795G>T (p.Leu2265=) | |
| X | g.53568736C>G | CA516433643 | HUWE1 | c.6660G>C (p.Leu2220=) c.6663G>C (p.Leu2221=) c.6636G>C (p.Leu2212=) c.6912G>C (p.Leu2304=) c.6909G>C (p.Leu2303=) n.7347G>C c.7044G>C (p.Leu2348=) c.7041G>C (p.Leu2347=) c.7023G>C (p.Leu2341=) c.6933G>C (p.Leu2311=) c.6795G>C (p.Leu2265=) | |
| X | g.53568736C>T | CA516433644 | HUWE1 | c.6660G>A (p.Leu2220=) c.6663G>A (p.Leu2221=) c.6636G>A (p.Leu2212=) c.6912G>A (p.Leu2304=) c.6909G>A (p.Leu2303=) n.7347G>A c.7044G>A (p.Leu2348=) c.7041G>A (p.Leu2347=) c.7023G>A (p.Leu2341=) c.6933G>A (p.Leu2311=) c.6795G>A (p.Leu2265=) | |
| X | g.53568737A>C | CA413163228 | HUWE1 | c.6659T>G (p.Leu2220Arg) c.6662T>G (p.Leu2221Arg) c.6635T>G (p.Leu2212Arg) c.6911T>G (p.Leu2304Arg) c.6908T>G (p.Leu2303Arg) n.7346T>G c.7043T>G (p.Leu2348Arg) c.7040T>G (p.Leu2347Arg) c.7022T>G (p.Leu2341Arg) c.6932T>G (p.Leu2311Arg) c.6794T>G (p.Leu2265Arg) | |
| X | g.53568737A>G | CA413163229 | HUWE1 | c.6659T>C (p.Leu2220Pro) c.6662T>C (p.Leu2221Pro) c.6635T>C (p.Leu2212Pro) c.6911T>C (p.Leu2304Pro) c.6908T>C (p.Leu2303Pro) n.7346T>C c.7043T>C (p.Leu2348Pro) c.7040T>C (p.Leu2347Pro) c.7022T>C (p.Leu2341Pro) c.6932T>C (p.Leu2311Pro) c.6794T>C (p.Leu2265Pro) | |
| X | g.53568737A>T | CA413163231 | HUWE1 | c.6659T>A (p.Leu2220Gln) c.6662T>A (p.Leu2221Gln) c.6635T>A (p.Leu2212Gln) c.6911T>A (p.Leu2304Gln) c.6908T>A (p.Leu2303Gln) n.7346T>A c.7043T>A (p.Leu2348Gln) c.7040T>A (p.Leu2347Gln) c.7022T>A (p.Leu2341Gln) c.6932T>A (p.Leu2311Gln) c.6794T>A (p.Leu2265Gln) | |
| X | g.53568738G>A | CA516433645 | HUWE1 | c.6658C>T (p.Leu2220=) c.6661C>T (p.Leu2221=) c.6634C>T (p.Leu2212=) c.6910C>T (p.Leu2304=) c.6907C>T (p.Leu2303=) n.7345C>T c.7042C>T (p.Leu2348=) c.7039C>T (p.Leu2347=) c.7021C>T (p.Leu2341=) c.6931C>T (p.Leu2311=) c.6793C>T (p.Leu2265=) | |
| X | g.53568738G>C | CA413163232 | HUWE1 | c.6658C>G (p.Leu2220Val) c.6661C>G (p.Leu2221Val) c.6634C>G (p.Leu2212Val) c.6910C>G (p.Leu2304Val) c.6907C>G (p.Leu2303Val) n.7345C>G c.7042C>G (p.Leu2348Val) c.7039C>G (p.Leu2347Val) c.7021C>G (p.Leu2341Val) c.6931C>G (p.Leu2311Val) c.6793C>G (p.Leu2265Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.53568738G= | CA2429880751 | HUWE1 | c.6658C= (p.Leu2220=) c.6661C= (p.Leu2221=) c.6634C= (p.Leu2212=) c.6910C= (p.Leu2304=) c.6907C= (p.Leu2303=) n.7345C= c.7042C= (p.Leu2348=) c.7039C= (p.Leu2347=) c.7021C= (p.Leu2341=) c.6931C= (p.Leu2311=) c.6793C= (p.Leu2265=) | |
| X | g.53568738G>T | CA413163234 | HUWE1 | c.6658C>A (p.Leu2220Met) c.6661C>A (p.Leu2221Met) c.6634C>A (p.Leu2212Met) c.6910C>A (p.Leu2304Met) c.6907C>A (p.Leu2303Met) n.7345C>A c.7042C>A (p.Leu2348Met) c.7039C>A (p.Leu2347Met) c.7021C>A (p.Leu2341Met) c.6931C>A (p.Leu2311Met) c.6793C>A (p.Leu2265Met) | |
| X | g.53568739T>A | CA516433646 | HUWE1 | c.6657A>T (p.Gly2219=) c.6660A>T (p.Gly2220=) c.6633A>T (p.Gly2211=) c.6909A>T (p.Gly2303=) c.6906A>T (p.Gly2302=) n.7344A>T c.7041A>T (p.Gly2347=) c.7038A>T (p.Gly2346=) c.7020A>T (p.Gly2340=) c.6930A>T (p.Gly2310=) c.6792A>T (p.Gly2264=) | |
| X | g.53568739T>C | CA516433647 | HUWE1 | c.6657A>G (p.Gly2219=) c.6660A>G (p.Gly2220=) c.6633A>G (p.Gly2211=) c.6909A>G (p.Gly2303=) c.6906A>G (p.Gly2302=) n.7344A>G c.7041A>G (p.Gly2347=) c.7038A>G (p.Gly2346=) c.7020A>G (p.Gly2340=) c.6930A>G (p.Gly2310=) c.6792A>G (p.Gly2264=) | |
| X | g.53568739T>G | CA516433648 | HUWE1 | c.6657A>C (p.Gly2219=) c.6660A>C (p.Gly2220=) c.6633A>C (p.Gly2211=) c.6909A>C (p.Gly2303=) c.6906A>C (p.Gly2302=) n.7344A>C c.7041A>C (p.Gly2347=) c.7038A>C (p.Gly2346=) c.7020A>C (p.Gly2340=) c.6930A>C (p.Gly2310=) c.6792A>C (p.Gly2264=) | |
| X | g.53568740C>A | CA413163235 | HUWE1 | c.6656G>T (p.Gly2219Val) c.6659G>T (p.Gly2220Val) c.6632G>T (p.Gly2211Val) c.6908G>T (p.Gly2303Val) c.6905G>T (p.Gly2302Val) n.7343G>T c.7040G>T (p.Gly2347Val) c.7037G>T (p.Gly2346Val) c.7019G>T (p.Gly2340Val) c.6929G>T (p.Gly2310Val) c.6791G>T (p.Gly2264Val) | |
| X | g.53568740C>G | CA413163239 | HUWE1 | c.6656G>C (p.Gly2219Ala) c.6659G>C (p.Gly2220Ala) c.6632G>C (p.Gly2211Ala) c.6908G>C (p.Gly2303Ala) c.6905G>C (p.Gly2302Ala) n.7343G>C c.7040G>C (p.Gly2347Ala) c.7037G>C (p.Gly2346Ala) c.7019G>C (p.Gly2340Ala) c.6929G>C (p.Gly2310Ala) c.6791G>C (p.Gly2264Ala) | |
| X | g.53568740C>T | CA413163241 | HUWE1 | c.6656G>A (p.Gly2219Glu) c.6659G>A (p.Gly2220Glu) c.6632G>A (p.Gly2211Glu) c.6908G>A (p.Gly2303Glu) c.6905G>A (p.Gly2302Glu) n.7343G>A c.7040G>A (p.Gly2347Glu) c.7037G>A (p.Gly2346Glu) c.7019G>A (p.Gly2340Glu) c.6929G>A (p.Gly2310Glu) c.6791G>A (p.Gly2264Glu) | |
| X | g.53568741C>A | CA413163246 | HUWE1 | c.6655G>T (p.Gly2219Ter) c.6658G>T (p.Gly2220Ter) c.6631G>T (p.Gly2211Ter) c.6907G>T (p.Gly2303Ter) c.6904G>T (p.Gly2302Ter) n.7342G>T c.7039G>T (p.Gly2347Ter) c.7036G>T (p.Gly2346Ter) c.7018G>T (p.Gly2340Ter) c.6928G>T (p.Gly2310Ter) c.6790G>T (p.Gly2264Ter) | |
| X | g.53568741C>G | CA413163248 | HUWE1 | c.6655G>C (p.Gly2219Arg) c.6658G>C (p.Gly2220Arg) c.6631G>C (p.Gly2211Arg) c.6907G>C (p.Gly2303Arg) c.6904G>C (p.Gly2302Arg) n.7342G>C c.7039G>C (p.Gly2347Arg) c.7036G>C (p.Gly2346Arg) c.7018G>C (p.Gly2340Arg) c.6928G>C (p.Gly2310Arg) c.6790G>C (p.Gly2264Arg) | |
| X | g.53568741C>T | CA413163247 | HUWE1 | c.6655G>A (p.Gly2219Arg) c.6658G>A (p.Gly2220Arg) c.6631G>A (p.Gly2211Arg) c.6907G>A (p.Gly2303Arg) c.6904G>A (p.Gly2302Arg) n.7342G>A c.7039G>A (p.Gly2347Arg) c.7036G>A (p.Gly2346Arg) c.7018G>A (p.Gly2340Arg) c.6928G>A (p.Gly2310Arg) c.6790G>A (p.Gly2264Arg) | |
| X | g.53568742C>A | CA413163249 | HUWE1 | c.6654G>T (p.Lys2218Asn) c.6657G>T (p.Lys2219Asn) c.6630G>T (p.Lys2210Asn) c.6906G>T (p.Lys2302Asn) c.6903G>T (p.Lys2301Asn) n.7341G>T c.7038G>T (p.Lys2346Asn) c.7035G>T (p.Lys2345Asn) c.7017G>T (p.Lys2339Asn) c.6927G>T (p.Lys2309Asn) c.6789G>T (p.Lys2263Asn) | |
| X | g.53568742C>G | CA413163250 | HUWE1 | c.6654G>C (p.Lys2218Asn) c.6657G>C (p.Lys2219Asn) c.6630G>C (p.Lys2210Asn) c.6906G>C (p.Lys2302Asn) c.6903G>C (p.Lys2301Asn) n.7341G>C c.7038G>C (p.Lys2346Asn) c.7035G>C (p.Lys2345Asn) c.7017G>C (p.Lys2339Asn) c.6927G>C (p.Lys2309Asn) c.6789G>C (p.Lys2263Asn) | |
| X | g.53568742C>T | CA516433649 | HUWE1 | c.6654G>A (p.Lys2218=) c.6657G>A (p.Lys2219=) c.6630G>A (p.Lys2210=) c.6906G>A (p.Lys2302=) c.6903G>A (p.Lys2301=) n.7341G>A c.7038G>A (p.Lys2346=) c.7035G>A (p.Lys2345=) c.7017G>A (p.Lys2339=) c.6927G>A (p.Lys2309=) c.6789G>A (p.Lys2263=) | |
| X | g.53568743T>A | CA413163251 | HUWE1 | c.6653A>T (p.Lys2218Met) c.6656A>T (p.Lys2219Met) c.6629A>T (p.Lys2210Met) c.6905A>T (p.Lys2302Met) c.6902A>T (p.Lys2301Met) n.7340A>T c.7037A>T (p.Lys2346Met) c.7034A>T (p.Lys2345Met) c.7016A>T (p.Lys2339Met) c.6926A>T (p.Lys2309Met) c.6788A>T (p.Lys2263Met) | |
| X | g.53568743T>C | CA413163252 | HUWE1 | c.6653A>G (p.Lys2218Arg) c.6656A>G (p.Lys2219Arg) c.6629A>G (p.Lys2210Arg) c.6905A>G (p.Lys2302Arg) c.6902A>G (p.Lys2301Arg) n.7340A>G c.7037A>G (p.Lys2346Arg) c.7034A>G (p.Lys2345Arg) c.7016A>G (p.Lys2339Arg) c.6926A>G (p.Lys2309Arg) c.6788A>G (p.Lys2263Arg) | dbSNP gnomAD v4 |
| X | g.53568743T>G | CA413163255 | HUWE1 | c.6653A>C (p.Lys2218Thr) c.6656A>C (p.Lys2219Thr) c.6629A>C (p.Lys2210Thr) c.6905A>C (p.Lys2302Thr) c.6902A>C (p.Lys2301Thr) n.7340A>C c.7037A>C (p.Lys2346Thr) c.7034A>C (p.Lys2345Thr) c.7016A>C (p.Lys2339Thr) c.6926A>C (p.Lys2309Thr) c.6788A>C (p.Lys2263Thr) | |
| X | g.53568743T= | CA2429880752 | HUWE1 | c.6653A= (p.Lys2218=) c.6656A= (p.Lys2219=) c.6629A= (p.Lys2210=) c.6905A= (p.Lys2302=) c.6902A= (p.Lys2301=) n.7340A= c.7037A= (p.Lys2346=) c.7034A= (p.Lys2345=) c.7016A= (p.Lys2339=) c.6926A= (p.Lys2309=) c.6788A= (p.Lys2263=) | |
| X | g.53568744T>A | CA413163258 | HUWE1 | c.6652A>T (p.Lys2218Ter) c.6655A>T (p.Lys2219Ter) c.6628A>T (p.Lys2210Ter) c.6904A>T (p.Lys2302Ter) c.6901A>T (p.Lys2301Ter) n.7339A>T c.7036A>T (p.Lys2346Ter) c.7033A>T (p.Lys2345Ter) c.7015A>T (p.Lys2339Ter) c.6925A>T (p.Lys2309Ter) c.6787A>T (p.Lys2263Ter) | |
| X | g.53568744T>C | CA413163260 | HUWE1 | c.6652A>G (p.Lys2218Glu) c.6655A>G (p.Lys2219Glu) c.6628A>G (p.Lys2210Glu) c.6904A>G (p.Lys2302Glu) c.6901A>G (p.Lys2301Glu) n.7339A>G c.7036A>G (p.Lys2346Glu) c.7033A>G (p.Lys2345Glu) c.7015A>G (p.Lys2339Glu) c.6925A>G (p.Lys2309Glu) c.6787A>G (p.Lys2263Glu) | |
| X | g.53568744T>G | CA413163264 | HUWE1 | c.6652A>C (p.Lys2218Gln) c.6655A>C (p.Lys2219Gln) c.6628A>C (p.Lys2210Gln) c.6904A>C (p.Lys2302Gln) c.6901A>C (p.Lys2301Gln) n.7339A>C c.7036A>C (p.Lys2346Gln) c.7033A>C (p.Lys2345Gln) c.7015A>C (p.Lys2339Gln) c.6925A>C (p.Lys2309Gln) c.6787A>C (p.Lys2263Gln) | |
| X | g.53568745C>A | CA413163274 | HUWE1 | c.6651G>T (p.Lys2217Asn) c.6654G>T (p.Lys2218Asn) c.6627G>T (p.Lys2209Asn) c.6903G>T (p.Lys2301Asn) c.6900G>T (p.Lys2300Asn) n.7338G>T c.7035G>T (p.Lys2345Asn) c.7032G>T (p.Lys2344Asn) c.7014G>T (p.Lys2338Asn) c.6924G>T (p.Lys2308Asn) c.6786G>T (p.Lys2262Asn) | |
| X | g.53568745C= | CA2429880753 | HUWE1 | c.6651G= (p.Lys2217=) c.6654G= (p.Lys2218=) c.6627G= (p.Lys2209=) c.6903G= (p.Lys2301=) c.6900G= (p.Lys2300=) n.7338G= c.7035G= (p.Lys2345=) c.7032G= (p.Lys2344=) c.7014G= (p.Lys2338=) c.6924G= (p.Lys2308=) c.6786G= (p.Lys2262=) | |
| X | g.53568745C>G | CA413163276 | HUWE1 | c.6651G>C (p.Lys2217Asn) c.6654G>C (p.Lys2218Asn) c.6627G>C (p.Lys2209Asn) c.6903G>C (p.Lys2301Asn) c.6900G>C (p.Lys2300Asn) n.7338G>C c.7035G>C (p.Lys2345Asn) c.7032G>C (p.Lys2344Asn) c.7014G>C (p.Lys2338Asn) c.6924G>C (p.Lys2308Asn) c.6786G>C (p.Lys2262Asn) | |
| X | g.53568745C>T | CA516433650 | HUWE1 | c.6651G>A (p.Lys2217=) c.6654G>A (p.Lys2218=) c.6627G>A (p.Lys2209=) c.6903G>A (p.Lys2301=) c.6900G>A (p.Lys2300=) n.7338G>A c.7035G>A (p.Lys2345=) c.7032G>A (p.Lys2344=) c.7014G>A (p.Lys2338=) c.6924G>A (p.Lys2308=) c.6786G>A (p.Lys2262=) | dbSNP |
| X | g.53568746T>A | CA413163281 | HUWE1 | c.6650A>T (p.Lys2217Met) c.6653A>T (p.Lys2218Met) c.6626A>T (p.Lys2209Met) c.6902A>T (p.Lys2301Met) c.6899A>T (p.Lys2300Met) n.7337A>T c.7034A>T (p.Lys2345Met) c.7031A>T (p.Lys2344Met) c.7013A>T (p.Lys2338Met) c.6923A>T (p.Lys2308Met) c.6785A>T (p.Lys2262Met) | |
| X | g.53568746T>C | CA413163284 | HUWE1 | c.6650A>G (p.Lys2217Arg) c.6653A>G (p.Lys2218Arg) c.6626A>G (p.Lys2209Arg) c.6902A>G (p.Lys2301Arg) c.6899A>G (p.Lys2300Arg) n.7337A>G c.7034A>G (p.Lys2345Arg) c.7031A>G (p.Lys2344Arg) c.7013A>G (p.Lys2338Arg) c.6923A>G (p.Lys2308Arg) c.6785A>G (p.Lys2262Arg) | gnomAD v4 |
| X | g.53568746T>G | CA413163287 | HUWE1 | c.6650A>C (p.Lys2217Thr) c.6653A>C (p.Lys2218Thr) c.6626A>C (p.Lys2209Thr) c.6902A>C (p.Lys2301Thr) c.6899A>C (p.Lys2300Thr) n.7337A>C c.7034A>C (p.Lys2345Thr) c.7031A>C (p.Lys2344Thr) c.7013A>C (p.Lys2338Thr) c.6923A>C (p.Lys2308Thr) c.6785A>C (p.Lys2262Thr) | |
| X | g.53568747T>A | CA413163289 | HUWE1 | c.6649A>T (p.Lys2217Ter) c.6652A>T (p.Lys2218Ter) c.6625A>T (p.Lys2209Ter) c.6901A>T (p.Lys2301Ter) c.6898A>T (p.Lys2300Ter) n.7336A>T c.7033A>T (p.Lys2345Ter) c.7030A>T (p.Lys2344Ter) c.7012A>T (p.Lys2338Ter) c.6922A>T (p.Lys2308Ter) c.6784A>T (p.Lys2262Ter) | |
| X | g.53568747T>C | CA413163293 | HUWE1 | c.6649A>G (p.Lys2217Glu) c.6652A>G (p.Lys2218Glu) c.6625A>G (p.Lys2209Glu) c.6901A>G (p.Lys2301Glu) c.6898A>G (p.Lys2300Glu) n.7336A>G c.7033A>G (p.Lys2345Glu) c.7030A>G (p.Lys2344Glu) c.7012A>G (p.Lys2338Glu) c.6922A>G (p.Lys2308Glu) c.6784A>G (p.Lys2262Glu) | ClinVar |
| X | g.53568747T>G | CA413163291 | HUWE1 | c.6649A>C (p.Lys2217Gln) c.6652A>C (p.Lys2218Gln) c.6625A>C (p.Lys2209Gln) c.6901A>C (p.Lys2301Gln) c.6898A>C (p.Lys2300Gln) n.7336A>C c.7033A>C (p.Lys2345Gln) c.7030A>C (p.Lys2344Gln) c.7012A>C (p.Lys2338Gln) c.6922A>C (p.Lys2308Gln) c.6784A>C (p.Lys2262Gln) | |
| X | g.53568748C>A | CA516433651 | HUWE1 | c.6648G>T (p.Leu2216=) c.6651G>T (p.Leu2217=) c.6624G>T (p.Leu2208=) c.6900G>T (p.Leu2300=) c.6897G>T (p.Leu2299=) n.7335G>T c.7032G>T (p.Leu2344=) c.7029G>T (p.Leu2343=) c.7011G>T (p.Leu2337=) c.6921G>T (p.Leu2307=) c.6783G>T (p.Leu2261=) | |
| X | g.53568748C>G | CA516433653 | HUWE1 | c.6648G>C (p.Leu2216=) c.6651G>C (p.Leu2217=) c.6624G>C (p.Leu2208=) c.6900G>C (p.Leu2300=) c.6897G>C (p.Leu2299=) n.7335G>C c.7032G>C (p.Leu2344=) c.7029G>C (p.Leu2343=) c.7011G>C (p.Leu2337=) c.6921G>C (p.Leu2307=) c.6783G>C (p.Leu2261=) | |
| X | g.53568748C>T | CA516433652 | HUWE1 | c.6648G>A (p.Leu2216=) c.6651G>A (p.Leu2217=) c.6624G>A (p.Leu2208=) c.6900G>A (p.Leu2300=) c.6897G>A (p.Leu2299=) n.7335G>A c.7032G>A (p.Leu2344=) c.7029G>A (p.Leu2343=) c.7011G>A (p.Leu2337=) c.6921G>A (p.Leu2307=) c.6783G>A (p.Leu2261=) | |
| X | g.53568749A>C | CA413163297 | HUWE1 | c.6647T>G (p.Leu2216Arg) c.6650T>G (p.Leu2217Arg) c.6623T>G (p.Leu2208Arg) c.6899T>G (p.Leu2300Arg) c.6896T>G (p.Leu2299Arg) n.7334T>G c.7031T>G (p.Leu2344Arg) c.7028T>G (p.Leu2343Arg) c.7010T>G (p.Leu2337Arg) c.6920T>G (p.Leu2307Arg) c.6782T>G (p.Leu2261Arg) | |
| X | g.53568749A>G | CA413163303 | HUWE1 | c.6647T>C (p.Leu2216Pro) c.6650T>C (p.Leu2217Pro) c.6623T>C (p.Leu2208Pro) c.6899T>C (p.Leu2300Pro) c.6896T>C (p.Leu2299Pro) n.7334T>C c.7031T>C (p.Leu2344Pro) c.7028T>C (p.Leu2343Pro) c.7010T>C (p.Leu2337Pro) c.6920T>C (p.Leu2307Pro) c.6782T>C (p.Leu2261Pro) | |
| X | g.53568749A>T | CA413163305 | HUWE1 | c.6647T>A (p.Leu2216Gln) c.6650T>A (p.Leu2217Gln) c.6623T>A (p.Leu2208Gln) c.6899T>A (p.Leu2300Gln) c.6896T>A (p.Leu2299Gln) n.7334T>A c.7031T>A (p.Leu2344Gln) c.7028T>A (p.Leu2343Gln) c.7010T>A (p.Leu2337Gln) c.6920T>A (p.Leu2307Gln) c.6782T>A (p.Leu2261Gln) | |
| X | g.53568750G>A | CA516433654 | HUWE1 | c.6646C>T (p.Leu2216=) c.6649C>T (p.Leu2217=) c.6622C>T (p.Leu2208=) c.6898C>T (p.Leu2300=) c.6895C>T (p.Leu2299=) n.7333C>T c.7030C>T (p.Leu2344=) c.7027C>T (p.Leu2343=) c.7009C>T (p.Leu2337=) c.6919C>T (p.Leu2307=) c.6781C>T (p.Leu2261=) | |
| X | g.53568750G>C | CA413163308 | HUWE1 | c.6646C>G (p.Leu2216Val) c.6649C>G (p.Leu2217Val) c.6622C>G (p.Leu2208Val) c.6898C>G (p.Leu2300Val) c.6895C>G (p.Leu2299Val) n.7333C>G c.7030C>G (p.Leu2344Val) c.7027C>G (p.Leu2343Val) c.7009C>G (p.Leu2337Val) c.6919C>G (p.Leu2307Val) c.6781C>G (p.Leu2261Val) | |
| X | g.53568750G>T | CA413163311 | HUWE1 | c.6646C>A (p.Leu2216Met) c.6649C>A (p.Leu2217Met) c.6622C>A (p.Leu2208Met) c.6898C>A (p.Leu2300Met) c.6895C>A (p.Leu2299Met) n.7333C>A c.7030C>A (p.Leu2344Met) c.7027C>A (p.Leu2343Met) c.7009C>A (p.Leu2337Met) c.6919C>A (p.Leu2307Met) c.6781C>A (p.Leu2261Met) | |
| X | g.53568751G>A | CA516433655 | HUWE1 | c.6645C>T (p.Phe2215=) c.6648C>T (p.Phe2216=) c.6621C>T (p.Phe2207=) c.6897C>T (p.Phe2299=) c.6894C>T (p.Phe2298=) n.7332C>T c.7029C>T (p.Phe2343=) c.7026C>T (p.Phe2342=) c.7008C>T (p.Phe2336=) c.6918C>T (p.Phe2306=) c.6780C>T (p.Phe2260=) | gnomAD v4 |
| X | g.53568751G>C | CA413163313 | HUWE1 | c.6645C>G (p.Phe2215Leu) c.6648C>G (p.Phe2216Leu) c.6621C>G (p.Phe2207Leu) c.6897C>G (p.Phe2299Leu) c.6894C>G (p.Phe2298Leu) n.7332C>G c.7029C>G (p.Phe2343Leu) c.7026C>G (p.Phe2342Leu) c.7008C>G (p.Phe2336Leu) c.6918C>G (p.Phe2306Leu) c.6780C>G (p.Phe2260Leu) | |
| X | g.53568751G>T | CA413163316 | HUWE1 | c.6645C>A (p.Phe2215Leu) c.6648C>A (p.Phe2216Leu) c.6621C>A (p.Phe2207Leu) c.6897C>A (p.Phe2299Leu) c.6894C>A (p.Phe2298Leu) n.7332C>A c.7029C>A (p.Phe2343Leu) c.7026C>A (p.Phe2342Leu) c.7008C>A (p.Phe2336Leu) c.6918C>A (p.Phe2306Leu) c.6780C>A (p.Phe2260Leu) | |
| X | g.53568752A>C | CA413163319 | HUWE1 | c.6644T>G (p.Phe2215Cys) c.6647T>G (p.Phe2216Cys) c.6620T>G (p.Phe2207Cys) c.6896T>G (p.Phe2299Cys) c.6893T>G (p.Phe2298Cys) n.7331T>G c.7028T>G (p.Phe2343Cys) c.7025T>G (p.Phe2342Cys) c.7007T>G (p.Phe2336Cys) c.6917T>G (p.Phe2306Cys) c.6779T>G (p.Phe2260Cys) | |
| X | g.53568752A>G | CA413163322 | HUWE1 | c.6644T>C (p.Phe2215Ser) c.6647T>C (p.Phe2216Ser) c.6620T>C (p.Phe2207Ser) c.6896T>C (p.Phe2299Ser) c.6893T>C (p.Phe2298Ser) n.7331T>C c.7028T>C (p.Phe2343Ser) c.7025T>C (p.Phe2342Ser) c.7007T>C (p.Phe2336Ser) c.6917T>C (p.Phe2306Ser) c.6779T>C (p.Phe2260Ser) | |
| X | g.53568752A>T | CA413163325 | HUWE1 | c.6644T>A (p.Phe2215Tyr) c.6647T>A (p.Phe2216Tyr) c.6620T>A (p.Phe2207Tyr) c.6896T>A (p.Phe2299Tyr) c.6893T>A (p.Phe2298Tyr) n.7331T>A c.7028T>A (p.Phe2343Tyr) c.7025T>A (p.Phe2342Tyr) c.7007T>A (p.Phe2336Tyr) c.6917T>A (p.Phe2306Tyr) c.6779T>A (p.Phe2260Tyr) | |
| X | g.53568755del | CA2569188456 | HUWE1 | c.6644del (p.Phe2215SerfsTer2) c.6647del (p.Phe2216SerfsTer2) c.6620del (p.Phe2207SerfsTer2) c.6896del (p.Phe2299SerfsTer2) c.6893del (p.Phe2298SerfsTer2) n.7331del c.7028del (p.Phe2343SerfsTer2) c.7025del (p.Phe2342SerfsTer2) c.7007del (p.Phe2336SerfsTer2) c.6917del (p.Phe2306SerfsTer2) c.6779del (p.Phe2260SerfsTer2) | |
| X | g.53568753A>C | CA413163331 | HUWE1 | c.6643T>G (p.Phe2215Val) c.6646T>G (p.Phe2216Val) c.6619T>G (p.Phe2207Val) c.6895T>G (p.Phe2299Val) c.6892T>G (p.Phe2298Val) n.7330T>G c.7027T>G (p.Phe2343Val) c.7024T>G (p.Phe2342Val) c.7006T>G (p.Phe2336Val) c.6916T>G (p.Phe2306Val) c.6778T>G (p.Phe2260Val) | |
| X | g.53568753A>G | CA413163332 | HUWE1 | c.6643T>C (p.Phe2215Leu) c.6646T>C (p.Phe2216Leu) c.6619T>C (p.Phe2207Leu) c.6895T>C (p.Phe2299Leu) c.6892T>C (p.Phe2298Leu) n.7330T>C c.7027T>C (p.Phe2343Leu) c.7024T>C (p.Phe2342Leu) c.7006T>C (p.Phe2336Leu) c.6916T>C (p.Phe2306Leu) c.6778T>C (p.Phe2260Leu) | |
| X | g.53568753A>T | CA413163329 | HUWE1 | c.6643T>A (p.Phe2215Ile) c.6646T>A (p.Phe2216Ile) c.6619T>A (p.Phe2207Ile) c.6895T>A (p.Phe2299Ile) c.6892T>A (p.Phe2298Ile) n.7330T>A c.7027T>A (p.Phe2343Ile) c.7024T>A (p.Phe2342Ile) c.7006T>A (p.Phe2336Ile) c.6916T>A (p.Phe2306Ile) c.6778T>A (p.Phe2260Ile) | |
| X | g.53568754A>C | CA516433656 | HUWE1 | c.6642T>G (p.Leu2214=) c.6645T>G (p.Leu2215=) c.6618T>G (p.Leu2206=) c.6894T>G (p.Leu2298=) c.6891T>G (p.Leu2297=) n.7329T>G c.7026T>G (p.Leu2342=) c.7023T>G (p.Leu2341=) c.7005T>G (p.Leu2335=) c.6915T>G (p.Leu2305=) c.6777T>G (p.Leu2259=) | |
| X | g.53568754A>G | CA516433658 | HUWE1 | c.6642T>C (p.Leu2214=) c.6645T>C (p.Leu2215=) c.6618T>C (p.Leu2206=) c.6894T>C (p.Leu2298=) c.6891T>C (p.Leu2297=) n.7329T>C c.7026T>C (p.Leu2342=) c.7023T>C (p.Leu2341=) c.7005T>C (p.Leu2335=) c.6915T>C (p.Leu2305=) c.6777T>C (p.Leu2259=) | |
| X | g.53568754A>T | CA516433657 | HUWE1 | c.6642T>A (p.Leu2214=) c.6645T>A (p.Leu2215=) c.6618T>A (p.Leu2206=) c.6894T>A (p.Leu2298=) c.6891T>A (p.Leu2297=) n.7329T>A c.7026T>A (p.Leu2342=) c.7023T>A (p.Leu2341=) c.7005T>A (p.Leu2335=) c.6915T>A (p.Leu2305=) c.6777T>A (p.Leu2259=) | |
| X | g.53568755A>C | CA413163349 | HUWE1 | c.6641T>G (p.Leu2214Arg) c.6644T>G (p.Leu2215Arg) c.6617T>G (p.Leu2206Arg) c.6893T>G (p.Leu2298Arg) c.6890T>G (p.Leu2297Arg) n.7328T>G c.7025T>G (p.Leu2342Arg) c.7022T>G (p.Leu2341Arg) c.7004T>G (p.Leu2335Arg) c.6914T>G (p.Leu2305Arg) c.6776T>G (p.Leu2259Arg) | |
| X | g.53568755A>G | CA413163334 | HUWE1 | c.6641T>C (p.Leu2214Pro) c.6644T>C (p.Leu2215Pro) c.6617T>C (p.Leu2206Pro) c.6893T>C (p.Leu2298Pro) c.6890T>C (p.Leu2297Pro) n.7328T>C c.7025T>C (p.Leu2342Pro) c.7022T>C (p.Leu2341Pro) c.7004T>C (p.Leu2335Pro) c.6914T>C (p.Leu2305Pro) c.6776T>C (p.Leu2259Pro) | |
| X | g.53568755A>T | CA413163336 | HUWE1 | c.6641T>A (p.Leu2214His) c.6644T>A (p.Leu2215His) c.6617T>A (p.Leu2206His) c.6893T>A (p.Leu2298His) c.6890T>A (p.Leu2297His) n.7328T>A c.7025T>A (p.Leu2342His) c.7022T>A (p.Leu2341His) c.7004T>A (p.Leu2335His) c.6914T>A (p.Leu2305His) c.6776T>A (p.Leu2259His) | |
| X | g.53568756G>A | CA413163354 | HUWE1 | c.6640C>T (p.Leu2214Phe) c.6643C>T (p.Leu2215Phe) c.6616C>T (p.Leu2206Phe) c.6892C>T (p.Leu2298Phe) c.6889C>T (p.Leu2297Phe) n.7327C>T c.7024C>T (p.Leu2342Phe) c.7021C>T (p.Leu2341Phe) c.7003C>T (p.Leu2335Phe) c.6913C>T (p.Leu2305Phe) c.6775C>T (p.Leu2259Phe) | |
| X | g.53568756G>C | CA413163357 | HUWE1 | c.6640C>G (p.Leu2214Val) c.6643C>G (p.Leu2215Val) c.6616C>G (p.Leu2206Val) c.6892C>G (p.Leu2298Val) c.6889C>G (p.Leu2297Val) n.7327C>G c.7024C>G (p.Leu2342Val) c.7021C>G (p.Leu2341Val) c.7003C>G (p.Leu2335Val) c.6913C>G (p.Leu2305Val) c.6775C>G (p.Leu2259Val) | |
| X | g.53568756G>T | CA413163360 | HUWE1 | c.6640C>A (p.Leu2214Ile) c.6643C>A (p.Leu2215Ile) c.6616C>A (p.Leu2206Ile) c.6892C>A (p.Leu2298Ile) c.6889C>A (p.Leu2297Ile) n.7327C>A c.7024C>A (p.Leu2342Ile) c.7021C>A (p.Leu2341Ile) c.7003C>A (p.Leu2335Ile) c.6913C>A (p.Leu2305Ile) c.6775C>A (p.Leu2259Ile) | COSMIC COSMIC |