Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.31816809G>A | CA136893241 | HSPA1A,HSPA1L | c.1053G>A (p.Gln351=) c.558G>A (p.Gln186=) c.-14+4204C>T (n.-14+4204C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.31816809G>C | CA363414502 | HSPA1A,HSPA1L | c.1053G>C (p.Gln351His) c.558G>C (p.Gln186His) c.-14+4204C>G (n.-14+4204C>G) | |
6 | g.31816809G= | CA1619307537 | HSPA1A,HSPA1L | c.1053G= (p.Gln351=) c.558G= (p.Gln186=) c.-14+4204C= (n.-14+4204C=) | |
6 | g.31816809G>T | CA363414513 | HSPA1A,HSPA1L | c.1053G>T (p.Gln351His) c.558G>T (p.Gln186His) c.-14+4204C>A (n.-14+4204C>A) | |
6 | g.31816810G>A | CA363414515 | HSPA1A,HSPA1L | c.1054G>A (p.Asp352Asn) c.559G>A (p.Asp187Asn) c.-14+4203C>T (n.-14+4203C>T) | |
6 | g.31816810G>C | CA363414516 | HSPA1A,HSPA1L | c.1054G>C (p.Asp352His) c.559G>C (p.Asp187His) c.-14+4203C>G (n.-14+4203C>G) | |
6 | g.31816810G>T | CA363414518 | HSPA1A,HSPA1L | c.1054G>T (p.Asp352Tyr) c.559G>T (p.Asp187Tyr) c.-14+4203C>A (n.-14+4203C>A) | |
6 | g.31816811A>C | CA363414525 | HSPA1A,HSPA1L | c.1055A>C (p.Asp352Ala) c.560A>C (p.Asp187Ala) c.-14+4202T>G (n.-14+4202T>G) | gnomAD v4 |
6 | g.31816811A>G | CA363414526 | HSPA1A,HSPA1L | c.1055A>G (p.Asp352Gly) c.560A>G (p.Asp187Gly) c.-14+4202T>C (n.-14+4202T>C) | |
6 | g.31816811A>T | CA363414527 | HSPA1A,HSPA1L | c.1055A>T (p.Asp352Val) c.560A>T (p.Asp187Val) c.-14+4202T>A (n.-14+4202T>A) | |
6 | g.31816812C>A | CA363414529 | HSPA1A,HSPA1L | c.1056C>A (p.Asp352Glu) c.561C>A (p.Asp187Glu) c.-14+4201G>T (n.-14+4201G>T) | |
6 | g.31816812C>G | CA363414530 | HSPA1A,HSPA1L | c.1056C>G (p.Asp352Glu) c.561C>G (p.Asp187Glu) c.-14+4201G>C (n.-14+4201G>C) | |
6 | g.31816812C>T | CA449806030 | HSPA1A,HSPA1L | c.1056C>T (p.Asp352=) c.561C>T (p.Asp187=) c.-14+4201G>A (n.-14+4201G>A) | |
6 | g.31816813T>A | CA363414538 | HSPA1A,HSPA1L | c.1057T>A (p.Phe353Ile) c.562T>A (p.Phe188Ile) c.-14+4200A>T (n.-14+4200A>T) | |
6 | g.31816813T>C | CA363414536 | HSPA1A,HSPA1L | c.1057T>C (p.Phe353Leu) c.562T>C (p.Phe188Leu) c.-14+4200A>G (n.-14+4200A>G) | |
6 | g.31816813T>G | CA363414533 | HSPA1A,HSPA1L | c.1057T>G (p.Phe353Val) c.562T>G (p.Phe188Val) c.-14+4200A>C (n.-14+4200A>C) | |
6 | g.31816814T>A | CA363414547 | HSPA1A,HSPA1L | c.1058T>A (p.Phe353Tyr) c.563T>A (p.Phe188Tyr) c.-14+4199A>T (n.-14+4199A>T) | |
6 | g.31816814T>C | CA363414543 | HSPA1A,HSPA1L | c.1058T>C (p.Phe353Ser) c.563T>C (p.Phe188Ser) c.-14+4199A>G (n.-14+4199A>G) | |
6 | g.31816814T>G | CA363414546 | HSPA1A,HSPA1L | c.1058T>G (p.Phe353Cys) c.563T>G (p.Phe188Cys) c.-14+4199A>C (n.-14+4199A>C) | |
6 | g.31816815C>A | CA363414548 | HSPA1A,HSPA1L | c.1059C>A (p.Phe353Leu) c.564C>A (p.Phe188Leu) c.-14+4198G>T (n.-14+4198G>T) | |
6 | g.31816815C>G | CA363414549 | HSPA1A,HSPA1L | c.1059C>G (p.Phe353Leu) c.564C>G (p.Phe188Leu) c.-14+4198G>C (n.-14+4198G>C) | |
6 | g.31816815C>T | CA449806039 | HSPA1A,HSPA1L | c.1059C>T (p.Phe353=) c.564C>T (p.Phe188=) c.-14+4198G>A (n.-14+4198G>A) | gnomAD v4 |
6 | g.31816816T>A | CA363414552 | HSPA1A,HSPA1L | c.1060T>A (p.Phe354Ile) c.565T>A (p.Phe189Ile) c.-14+4197A>T (n.-14+4197A>T) | |
6 | g.31816816T>C | CA363414555 | HSPA1A,HSPA1L | c.1060T>C (p.Phe354Leu) c.565T>C (p.Phe189Leu) c.-14+4197A>G (n.-14+4197A>G) | |
6 | g.31816816T>G | CA363414564 | HSPA1A,HSPA1L | c.1060T>G (p.Phe354Val) c.565T>G (p.Phe189Val) c.-14+4197A>C (n.-14+4197A>C) | |
6 | g.31816817T>A | CA363414569 | HSPA1A,HSPA1L | c.1061T>A (p.Phe354Tyr) c.566T>A (p.Phe189Tyr) c.-14+4196A>T (n.-14+4196A>T) | |
6 | g.31816817T>C | CA363414570 | HSPA1A,HSPA1L | c.1061T>C (p.Phe354Ser) c.566T>C (p.Phe189Ser) c.-14+4196A>G (n.-14+4196A>G) | |
6 | g.31816817T>G | CA363414573 | HSPA1A,HSPA1L | c.1061T>G (p.Phe354Cys) c.566T>G (p.Phe189Cys) c.-14+4196A>C (n.-14+4196A>C) | gnomAD v4 |
6 | g.31816818C>A | CA363414578 | HSPA1A,HSPA1L | c.1062C>A (p.Phe354Leu) c.567C>A (p.Phe189Leu) c.-14+4195G>T (n.-14+4195G>T) | |
6 | g.31816818C>G | CA363414583 | HSPA1A,HSPA1L | c.1062C>G (p.Phe354Leu) c.567C>G (p.Phe189Leu) c.-14+4195G>C (n.-14+4195G>C) | |
6 | g.31816818C>T | CA449806050 | HSPA1A,HSPA1L | c.1062C>T (p.Phe354=) c.567C>T (p.Phe189=) c.-14+4195G>A (n.-14+4195G>A) | |
6 | g.31816819A>C | CA363414593 | HSPA1A,HSPA1L | c.1063A>C (p.Asn355His) c.568A>C (p.Asn190His) c.-14+4194T>G (n.-14+4194T>G) | gnomAD v4 |
6 | g.31816819A>G | CA363414597 | HSPA1A,HSPA1L | c.1063A>G (p.Asn355Asp) c.568A>G (p.Asn190Asp) c.-14+4194T>C (n.-14+4194T>C) | |
6 | g.31816819A>T | CA363414588 | HSPA1A,HSPA1L | c.1063A>T (p.Asn355Tyr) c.568A>T (p.Asn190Tyr) c.-14+4194T>A (n.-14+4194T>A) | |
6 | g.31816820A>C | CA363414601 | HSPA1A,HSPA1L | c.1064A>C (p.Asn355Thr) c.569A>C (p.Asn190Thr) c.-14+4193T>G (n.-14+4193T>G) | |
6 | g.31816820A>G | CA363414603 | HSPA1A,HSPA1L | c.1064A>G (p.Asn355Ser) c.569A>G (p.Asn190Ser) c.-14+4193T>C (n.-14+4193T>C) | |
6 | g.31816820A>T | CA363414604 | HSPA1A,HSPA1L | c.1064A>T (p.Asn355Ile) c.569A>T (p.Asn190Ile) c.-14+4193T>A (n.-14+4193T>A) | |
6 | g.31816821C>A | CA363414606 | HSPA1A,HSPA1L | c.1065C>A (p.Asn355Lys) c.570C>A (p.Asn190Lys) c.-14+4192G>T (n.-14+4192G>T) | |
6 | g.31816821C>G | CA363414608 | HSPA1A,HSPA1L | c.1065C>G (p.Asn355Lys) c.570C>G (p.Asn190Lys) c.-14+4192G>C (n.-14+4192G>C) | |
6 | g.31816821C>T | CA449806051 | HSPA1A,HSPA1L | c.1065C>T (p.Asn355=) c.570C>T (p.Asn190=) c.-14+4192G>A (n.-14+4192G>A) | |
6 | g.31816822G>A | CA363414617 | HSPA1A,HSPA1L | c.1066G>A (p.Gly356Arg) c.571G>A (p.Gly191Arg) c.-14+4191C>T (n.-14+4191C>T) | gnomAD v4 |
6 | g.31816822G>C | CA363414611 | HSPA1A,HSPA1L | c.1066G>C (p.Gly356Arg) c.571G>C (p.Gly191Arg) c.-14+4191C>G (n.-14+4191C>G) | gnomAD v4 |
6 | g.31816822G>T | CA363414615 | HSPA1A,HSPA1L | c.1066G>T (p.Gly356Trp) c.571G>T (p.Gly191Trp) c.-14+4191C>A (n.-14+4191C>A) | |
6 | g.31816823G>A | CA363414622 | HSPA1A,HSPA1L | c.1067G>A (p.Gly356Glu) c.572G>A (p.Gly191Glu) c.-14+4190C>T (n.-14+4190C>T) | |
6 | g.31816823G>C | CA363414623 | HSPA1A,HSPA1L | c.1067G>C (p.Gly356Ala) c.572G>C (p.Gly191Ala) c.-14+4190C>G (n.-14+4190C>G) | |
6 | g.31816823G>T | CA363414628 | HSPA1A,HSPA1L | c.1067G>T (p.Gly356Val) c.572G>T (p.Gly191Val) c.-14+4190C>A (n.-14+4190C>A) | |
6 | g.31816824G>A | CA449806066 | HSPA1A,HSPA1L | c.1068G>A (p.Gly356=) c.573G>A (p.Gly191=) c.-14+4189C>T (n.-14+4189C>T) | |
6 | g.31816824G>C | CA449806064 | HSPA1A,HSPA1L | c.1068G>C (p.Gly356=) c.573G>C (p.Gly191=) c.-14+4189C>G (n.-14+4189C>G) | |
6 | g.31816824G>T | CA449806062 | HSPA1A,HSPA1L | c.1068G>T (p.Gly356=) c.573G>T (p.Gly191=) c.-14+4189C>A (n.-14+4189C>A) | |
6 | g.31816825C>A | CA363414633 | HSPA1A,HSPA1L | c.1069C>A (p.Arg357Ser) c.574C>A (p.Arg192Ser) c.-14+4188G>T (n.-14+4188G>T) |