Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.71224317C>A | CA16621494 | GJB1 | c.610C>A (p.Leu204Ile) | ClinVar dbSNP |
X | g.71224317C= | CA2436388488 | GJB1 | c.610C= (p.Leu204=) | |
X | g.71224317C>G | CA413503287 | GJB1 | c.610C>G (p.Leu204Val) | ClinVar dbSNP |
X | g.71224317C>T | CA413503288 | GJB1 | c.610C>T (p.Leu204Phe) | ClinVar dbSNP |
X | g.71224318T>A | CA413503289 | GJB1 | c.611T>A (p.Leu204His) | |
X | g.71224318T>C | CA413503290 | GJB1 | c.611T>C (p.Leu204Pro) | |
X | g.71224318T>G | CA413503291 | GJB1 | c.611T>G (p.Leu204Arg) | |
X | g.71224319C>A | CA516820994 | GJB1 | c.612C>A (p.Leu204=) | |
X | g.71224319C>G | CA516820993 | GJB1 | c.612C>G (p.Leu204=) | |
X | g.71224319C>T | CA516820992 | GJB1 | c.612C>T (p.Leu204=) | |
X | g.71224320A>C | CA413503292 | GJB1 | c.613A>C (p.Asn205His) | |
X | g.71224320A>G | CA413503293 | GJB1 | c.613A>G (p.Asn205Asp) | |
X | g.71224320A>T | CA413503294 | GJB1 | c.613A>T (p.Asn205Tyr) | |
X | g.71224321A= | CA2436388489 | GJB1 | c.614A= (p.Asn205=) | |
X | g.71224321A>C | CA413503295 | GJB1 | c.614A>C (p.Asn205Thr) | |
X | g.71224321A>G | CA340970 | GJB1 | c.614A>G (p.Asn205Ser) | ClinVar dbSNP |
X | g.71224321A>T | CA413503296 | GJB1 | c.614A>T (p.Asn205Ile) | ClinVar dbSNP |
X | g.71224322T>A | CA413503297 | GJB1 | c.615T>A (p.Asn205Lys) | ClinVar dbSNP |
X | g.71224322T>C | CA516821000 | GJB1 | c.615T>C (p.Asn205=) | dbSNP |
X | g.71224322T>G | CA413503298 | GJB1 | c.615T>G (p.Asn205Lys) | |
X | g.71224322T= | CA2436388490 | GJB1 | c.615T= (p.Asn205=) | |
X | g.71224323G>A | CA413503299 | GJB1 | c.616G>A (p.Val206Met) | |
X | g.71224323G>C | CA413503300 | GJB1 | c.616G>C (p.Val206Leu) | |
X | g.71224323G= | CA2436388491 | GJB1 | c.616G= (p.Val206=) | |
X | g.71224323G>T | CA413503302 | GJB1 | c.616G>T (p.Val206Leu) | gnomAD v4 |
X | g.71224324T>A | CA413503304 | GJB1 | c.617T>A (p.Val206Glu) | |
X | g.71224324T>C | CA413503306 | GJB1 | c.617T>C (p.Val206Ala) | |
X | g.71224324T>G | CA413503308 | GJB1 | c.617T>G (p.Val206Gly) | ClinVar dbSNP |
X | g.71224324T= | CA2436388492 | GJB1 | c.617T= (p.Val206=) | |
X | g.71224324dup | CA915951216 | GJB1 | c.617dup (p.Ala207GlyfsTer?) | ClinVar dbSNP |
X | g.71224325G>A | CA516821009 | GJB1 | c.618G>A (p.Val206=) | |
X | g.71224325G>C | CA516821012 | GJB1 | c.618G>C (p.Val206=) | |
X | g.71224325G>T | CA516821010 | GJB1 | c.618G>T (p.Val206=) | |
X | g.71224326G>A | CA413503310 | GJB1 | c.619G>A (p.Ala207Thr) | gnomAD v4 |
X | g.71224326G>C | CA413503312 | GJB1 | c.619G>C (p.Ala207Pro) | ClinVar dbSNP |
X | g.71224326G>T | CA413503313 | GJB1 | c.619G>T (p.Ala207Ser) | |
X | g.71224327C>A | CA413503316 | GJB1 | c.620C>A (p.Ala207Asp) | gnomAD v4 |
X | g.71224327C= | CA2436388493 | GJB1 | c.620C= (p.Ala207=) | |
X | g.71224327C>G | CA413503318 | GJB1 | c.620C>G (p.Ala207Gly) | |
X | g.71224327C>T | CA10445321 | GJB1 | c.620C>T (p.Ala207Val) | dbSNP ExAC gnomAD v4 |
X | g.71224328C>A | CA516821016 | GJB1 | c.621C>A (p.Ala207=) | |
X | g.71224328C= | CA2436388494 | GJB1 | c.621C= (p.Ala207=) | |
X | g.71224328C>G | CA516821017 | GJB1 | c.621C>G (p.Ala207=) | dbSNP |
X | g.71224328C>T | CA516821018 | GJB1 | c.621C>T (p.Ala207=) | gnomAD v4 |
X | g.71224329del | CA2573159496 | GJB1 | c.622del (p.Glu208ArgfsTer?) | ClinVar dbSNP |
X | g.71224329G>A | CA413503325 | GJB1 | c.622G>A (p.Glu208Lys) | ClinVar dbSNP gnomAD v4 |
X | g.71224329G>C | CA413503323 | GJB1 | c.622G>C (p.Glu208Gln) | |
X | g.71224329G= | CA2436388495 | GJB1 | c.622G= (p.Glu208=) | |
X | g.71224329G>T | CA413503321 | GJB1 | c.622G>T (p.Glu208Ter) | |
X | g.71224330A= | CA2436388496 | GJB1 | c.623A= (p.Glu208=) |