13 | g.20189234C>A | CA387461333 | GJB2 | c.348G>T (p.Lys116Asn)
| |
13 | g.20189234C>G | CA387461334 | GJB2 | c.348G>C (p.Lys116Asn)
| |
13 | g.20189234C>T | CA483154011 | GJB2 | c.348G>A (p.Lys116=)
| |
13 | g.20189235T>A | CA387461335 | GJB2 | c.347A>T (p.Lys116Met)
| |
13 | g.20189235T>C | CA387461336 | GJB2 | c.347A>G (p.Lys116Arg)
| |
13 | g.20189235T>G | CA387461337 | GJB2 | c.347A>C (p.Lys116Thr)
| |
13 | g.20189236T>A | CA387461338 | GJB2 | c.346A>T (p.Lys116Ter)
| |
13 | g.20189236T>C | CA387461339 | GJB2 | c.346A>G (p.Lys116Glu)
| dbSNP |
13 | g.20189236T>G | CA387461340 | GJB2 | c.346A>C (p.Lys116Gln)
| |
13 | g.20189236T= | CA2077139454 | GJB2 | c.346A= (p.Lys116=)
| |
13 | g.20189237A= | CA2077139455 | GJB2 | c.345T= (p.Phe115=)
| |
13 | g.20189237A>C | CA387461341 | GJB2 | c.345T>G (p.Phe115Leu)
| dbSNP gnomAD v4 |
13 | g.20189237A>G | CA483154012 | GJB2 | c.345T>C (p.Phe115=)
| |
13 | g.20189237A>T | CA387461342 | GJB2 | c.345T>A (p.Phe115Leu)
| |
13 | g.20189239dup | CA2695217676 | GJB2 | c.345dup (p.Lys116Ter)
| ClinVar |
13 | g.20189239del | CA2839535260 | GJB2 | c.345del (p.Phe115LeufsTer?)
| |
13 | g.20189238A= | CA2077139456 | GJB2 | c.344T= (p.Phe115=)
| |
13 | g.20189238A>C | CA387461343 | GJB2 | c.344T>G (p.Phe115Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189238A>G | CA387461344 | GJB2 | c.344T>C (p.Phe115Ser)
| |
13 | g.20189238A>T | CA387461345 | GJB2 | c.344T>A (p.Phe115Tyr)
| |
13 | g.20189239A= | CA2077139459 | GJB2 | c.343T= (p.Phe115=)
| |
13 | g.20189239A>C | CA387461348 | GJB2 | c.343T>G (p.Phe115Val)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189239A>G | CA387461346 | GJB2 | c.343T>C (p.Phe115Leu)
| |
13 | g.20189239A>T | CA387461347 | GJB2 | c.343T>A (p.Phe115Ile)
| |
13 | g.20189240T>A | CA387461349 | GJB2 | c.342A>T (p.Glu114Asp)
| |
13 | g.20189240T>C | CA483154013 | GJB2 | c.342A>G (p.Glu114=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189240T>G | CA387461350 | GJB2 | c.342A>C (p.Glu114Asp)
| dbSNP |
13 | g.20189240T= | CA2077139461 | GJB2 | c.342A= (p.Glu114=)
| |
13 | g.20189240_20189241delinsTT | CA2077139462 | GJB2 | c.341_342delinsAA (p.Glu114=)
| |
13 | g.20189241dup | CA912980094 | GJB2 | c.342dup (p.Phe115IlefsTer2)
| |
13 | g.20189241T>A | CA387461351 | GJB2 | c.341A>T (p.Glu114Val)
| |
13 | g.20189241T>C | CA134960 | GJB2 | c.341A>G (p.Glu114Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.[20189241T>C;20189503C>T] | CA354398 | GJB2 | c.[79G>A;341A>G] (p.[Val27Ile;Glu114Gly])
| |
13 | g.20189241T>G | CA387461352 | GJB2 | c.341A>C (p.Glu114Ala)
| |
13 | g.20189241T= | CA2077139464 | GJB2 | c.341A= (p.Glu114=)
| |
13 | g.20189241delinsAG | CA919221226 | GJB2 | c.341delinsCT (p.Glu114AlafsTer3)
| dbSNP |
13 | g.20189243_20189246dup | CA608984165 | GJB2 | c.338_341dup (p.Phe115Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189242C>A | CA387461353 | GJB2 | c.340G>T (p.Glu114Ter)
| |
13 | g.20189242C= | CA2077139466 | GJB2 | c.340G= (p.Glu114=)
| |
13 | g.20189242C>G | CA387461354 | GJB2 | c.340G>C (p.Glu114Gln)
| |
13 | g.20189242C>T | CA6904279 | GJB2 | c.340G>A (p.Glu114Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189243A= | CA2077139470 | GJB2 | c.339T= (p.Ser113=)
| |
13 | g.20189243A>C | CA342004 | GJB2 | c.339T>G (p.Ser113Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189243A>G | CA483154014 | GJB2 | c.339T>C (p.Ser113=)
| |
13 | g.20189243A>T | CA387461355 | GJB2 | c.339T>A (p.Ser113Arg)
| |
13 | g.20189244C>A | CA387461356 | GJB2 | c.338G>T (p.Ser113Ile)
| |
13 | g.20189244C>G | CA387461357 | GJB2 | c.338G>C (p.Ser113Thr)
| |
13 | g.20189244C>T | CA387461358 | GJB2 | c.338G>A (p.Ser113Asn)
| |
13 | g.20189245T>A | CA387461360 | GJB2 | c.337A>T (p.Ser113Cys)
| |
13 | g.20189245T>C | CA387461361 | GJB2 | c.337A>G (p.Ser113Gly)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189245T>G | CA387461359 | GJB2 | c.337A>C (p.Ser113Arg)
| |
13 | g.20189245T= | CA2077139475 | GJB2 | c.337A= (p.Ser113=)
| |
13 | g.20189246_20189249del | CA2575364820 | GJB2 | c.334_337del (p.Lys112ValfsTer?)
| |
13 | g.20189246C>A | CA387461362 | GJB2 | c.336G>T (p.Lys112Asn)
| dbSNP |
13 | g.20189246C= | CA2077139479 | GJB2 | c.336G= (p.Lys112=)
| |
13 | g.20189246C>G | CA387461363 | GJB2 | c.336G>C (p.Lys112Asn)
| |
13 | g.20189246C>T | CA483154015 | GJB2 | c.336G>A (p.Lys112=)
| dbSNP |
13 | g.20189246_20189248delinsCTT | CA2077139478 | GJB2 | c.334_336delinsAAG (p.Lys112=)
| |
13 | g.20189247T>A | CA387461364 | GJB2 | c.335A>T (p.Lys112Met)
| |
13 | g.20189247T>C | CA387461365 | GJB2 | c.335A>G (p.Lys112Arg)
| |
13 | g.20189247T>G | CA387461366 | GJB2 | c.335A>C (p.Lys112Thr)
| |
13 | g.20189249dup | CA2842434867 | GJB2 | c.335dup (p.Ser113GlufsTer2)
| |
13 | g.20189249del | CA2838197075 | GJB2 | c.335del (p.Lys112ArgfsTer?)
| |
13 | g.20189248_20189249del | CA274322 | GJB2 | c.334_335del (p.Lys112GlufsTer2)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189248T>A | CA387461367 | GJB2 | c.334A>T (p.Lys112Ter)
| |
13 | g.20189248T>C | CA387461368 | GJB2 | c.334A>G (p.Lys112Glu)
| |
13 | g.20189248T>G | CA387461369 | GJB2 | c.334A>C (p.Lys112Gln)
| |
13 | g.20189249T>A | CA483154016 | GJB2 | c.333A>T (p.Ile111=)
| |
13 | g.20189249T>C | CA387461370 | GJB2 | c.333A>G (p.Ile111Met)
| gnomAD v4 |
13 | g.20189249T>G | CA483154017 | GJB2 | c.333A>C (p.Ile111=)
| |
13 | g.20189250A= | CA2077139482 | GJB2 | c.332T= (p.Ile111=)
| |
13 | g.20189250A>C | CA387461371 | GJB2 | c.332T>G (p.Ile111Arg)
| |
13 | g.20189250A>G | CA387461372 | GJB2 | c.332T>C (p.Ile111Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189250A>T | CA387461373 | GJB2 | c.332T>A (p.Ile111Lys)
| |
13 | g.20189251T>A | CA387461374 | GJB2 | c.331A>T (p.Ile111Leu)
| |
13 | g.20189251T>C | CA246460323 | GJB2 | c.331A>G (p.Ile111Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189251T>G | CA387461375 | GJB2 | c.331A>C (p.Ile111Leu)
| |
13 | g.20189251T= | CA2077139486 | GJB2 | c.331A= (p.Ile111=)
| |
13 | g.20189252C>A | CA387461376 | GJB2 | c.330G>T (p.Glu110Asp)
| |
13 | g.20189252C>G | CA387461377 | GJB2 | c.330G>C (p.Glu110Asp)
| |
13 | g.20189252C>T | CA483153736 | GJB2 | c.330G>A (p.Glu110=)
| ClinVar |
13 | g.20189252_20189268delinsCTCCCCCTTGATGAACT | CA2077139491 | GJB2 | c.314_330delinsAGTTCATCAAGGGGGAG (p.Lys105=)
| |
13 | g.20189253del | CA2695217677 | GJB2 | c.329del (p.Glu110GlyfsTer2)
| |
13 | g.20189253T>A | CA387461378 | GJB2 | c.329A>T (p.Glu110Val)
| |
13 | g.20189253T>C | CA387461379 | GJB2 | c.329A>G (p.Glu110Gly)
| gnomAD v4 |
13 | g.20189253T>G | CA387461380 | GJB2 | c.329A>C (p.Glu110Ala)
| |
13 | g.20189253_20189255delinsTCC | CA2077139497 | GJB2 | c.327_329delinsGGA (p.Gly109=)
| |
13 | g.20189256_20189271del | CA277273 | GJB2 | c.314_329del (p.Lys105ArgfsTer2)
| ClinVar dbSNP |
13 | g.20189254C>A | CA6904280 | GJB2 | c.328G>T (p.Glu110Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189254C= | CA2077139502 | GJB2 | c.328G= (p.Glu110=)
| |
13 | g.20189254C>G | CA387461381 | GJB2 | c.328G>C (p.Glu110Gln)
| |
13 | g.20189254C>T | CA387461382 | GJB2 | c.328G>A (p.Glu110Lys)
| |
13 | g.20189254_20189255delinsT | CA658823452 | GJB2 | c.327_328delinsA (p.Glu110ArgfsTer2)
| ClinVar dbSNP |
13 | g.20189258dup | CA2798416346 | GJB2 | c.328dup (p.Glu110GlyfsTer5)
| |
13 | g.20189258del | CA2580086790 | GJB2 | c.328del (p.Glu110ArgfsTer2)
| ClinVar gnomAD v4 |
13 | g.20189257_20189258del | CA2695217678 | GJB2 | c.327_328del (p.Glu110AspfsTer4)
| |
13 | g.20189255C>A | CA246460332 | GJB2 | c.327G>T (p.Gly109=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189255C= | CA2077139508 | GJB2 | c.327G= (p.Gly109=)
| |
13 | g.20189255C>G | CA483153737 | GJB2 | c.327G>C (p.Gly109=)
| |
13 | g.20189255C>T | CA246460335 | GJB2 | c.327G>A (p.Gly109=)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189255_20189268del | CA2695217679 | GJB2 | c.314_327del (p.Lys105ArgfsTer5)
| |
13 | g.20189255_20189269delinsCCCCTTGATGAACTT | CA2077139507 | GJB2 | c.313_327delinsAAGTTCATCAAGGGG (p.Lys105=)
| |
13 | g.20189256C>A | CA387461383 | GJB2 | c.326G>T (p.Gly109Val)
| ClinVar dbSNP |
13 | g.20189256C= | CA2077139513 | GJB2 | c.326G= (p.Gly109=)
| |
13 | g.20189256C>G | CA387461384 | GJB2 | c.326G>C (p.Gly109Ala)
| |
13 | g.20189256C>T | CA6904281 | GJB2 | c.326G>A (p.Gly109Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189258_20189271del | CA172223 | GJB2 | c.313_326del (p.Lys105GlyfsTer5)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189257C>A | CA387461386 | GJB2 | c.325G>T (p.Gly109Trp)
| dbSNP |
13 | g.20189257C= | CA2077139516 | GJB2 | c.325G= (p.Gly109=)
| |
13 | g.20189257C>G | CA246460357 | GJB2 | c.325G>C (p.Gly109Arg)
| dbSNP |
13 | g.20189257C>T | CA387461385 | GJB2 | c.325G>A (p.Gly109Arg)
| COSMIC |
13 | g.20189258C>A | CA387461387 | GJB2 | c.324G>T (p.Lys108Asn)
| |
13 | g.20189258C= | CA2077139518 | GJB2 | c.324G= (p.Lys108=)
| |
13 | g.20189258C>G | CA387461388 | GJB2 | c.324G>C (p.Lys108Asn)
| |
13 | g.20189258C>T | CA483153738 | GJB2 | c.324G>A (p.Lys108=)
| ClinVar dbSNP |
13 | g.20189259T>A | CA387461389 | GJB2 | c.323A>T (p.Lys108Met)
| |
13 | g.20189259T>C | CA387461390 | GJB2 | c.323A>G (p.Lys108Arg)
| |
13 | g.20189259T>G | CA387461391 | GJB2 | c.323A>C (p.Lys108Thr)
| dbSNP gnomAD v4 |
13 | g.20189259T= | CA2077139524 | GJB2 | c.323A= (p.Lys108=)
| |
13 | g.20189260dup | CA2838896688 | GJB2 | c.323dup (p.Glu110GlyfsTer5)
| |
13 | g.20189259_20189272del | CA2695217680 | GJB2 | c.310_323del (p.Arg104GlyfsTer6)
| |
13 | g.20189260T>A | CA387461392 | GJB2 | c.322A>T (p.Lys108Ter)
| |
13 | g.20189260T>C | CA387461393 | GJB2 | c.322A>G (p.Lys108Glu)
| ClinVar dbSNP |
13 | g.20189260T>G | CA387461394 | GJB2 | c.322A>C (p.Lys108Gln)
| |
13 | g.20189260T= | CA2077139528 | GJB2 | c.322A= (p.Lys108=)
| |
13 | g.20189261G>A | CA246460358 | GJB2 | c.321C>T (p.Ile107=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189261G>C | CA387461395 | GJB2 | c.321C>G (p.Ile107Met)
| COSMIC |
13 | g.20189261G= | CA2077139534 | GJB2 | c.321C= (p.Ile107=)
| |
13 | g.20189261G>T | CA483153739 | GJB2 | c.321C>A (p.Ile107=)
| |
13 | g.20189262A>C | CA387461396 | GJB2 | c.320T>G (p.Ile107Ser)
| |
13 | g.20189262A>G | CA387461397 | GJB2 | c.320T>C (p.Ile107Thr)
| |
13 | g.20189262A>T | CA387461398 | GJB2 | c.320T>A (p.Ile107Asn)
| |
13 | g.20189263T>A | CA387461400 | GJB2 | c.319A>T (p.Ile107Phe)
| |
13 | g.20189263T>C | CA246460359 | GJB2 | c.319A>G (p.Ile107Val)
| dbSNP |
13 | g.20189263T>G | CA387461399 | GJB2 | c.319A>C (p.Ile107Leu)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189263T= | CA2077139538 | GJB2 | c.319A= (p.Ile107=)
| |
13 | g.20189264G>A | CA483153740 | GJB2 | c.318C>T (p.Phe106=)
| ClinVar gnomAD v4 |
13 | g.20189264G>C | CA387461401 | GJB2 | c.318C>G (p.Phe106Leu)
| |
13 | g.20189264G= | CA2077139544 | GJB2 | c.318C= (p.Phe106=)
| |
13 | g.20189264G>T | CA6904282 | GJB2 | c.318C>A (p.Phe106Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189265A= | CA2077139547 | GJB2 | c.317T= (p.Phe106=)
| |
13 | g.20189265A>C | CA387461402 | GJB2 | c.317T>G (p.Phe106Cys)
| |
13 | g.20189265A>G | CA387461403 | GJB2 | c.317T>C (p.Phe106Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189265A>T | CA387461404 | GJB2 | c.317T>A (p.Phe106Tyr)
| |
13 | g.20189266A>C | CA387461405 | GJB2 | c.316T>G (p.Phe106Val)
| |
13 | g.20189266A>G | CA387461406 | GJB2 | c.316T>C (p.Phe106Leu)
| gnomAD v4 |
13 | g.20189266A>T | CA387461407 | GJB2 | c.316T>A (p.Phe106Ile)
| |
13 | g.20189266_20189279del | CA2695217681 | GJB2 | c.303_316del (p.Glu101AspfsTer9)
| |
13 | g.20189267C>A | CA387461408 | GJB2 | c.315G>T (p.Lys105Asn)
| gnomAD v4 |
13 | g.20189267C>G | CA387461409 | GJB2 | c.315G>C (p.Lys105Asn)
| |
13 | g.20189267C>T | CA483153741 | GJB2 | c.315G>A (p.Lys105=)
| |
13 | g.20189268T>A | CA387461410 | GJB2 | c.314A>T (p.Lys105Met)
| |
13 | g.20189268T>C | CA387461411 | GJB2 | c.314A>G (p.Lys105Arg)
| |
13 | g.20189268T>G | CA387461412 | GJB2 | c.314A>C (p.Lys105Thr)
| |
13 | g.20189268_20189269del | CA2695217683 | GJB2 | c.313_314del (p.Lys105ValfsTer9)
| |
13 | g.20189269del | CA2695217682 | GJB2 | c.314del (p.Lys105SerfsTer7)
| |
13 | g.20189269T>A | CA387461415 | GJB2 | c.313A>T (p.Lys105Ter)
| |
13 | g.20189269T>C | CA387461414 | GJB2 | c.313A>G (p.Lys105Glu)
| |
13 | g.20189269T>G | CA387461413 | GJB2 | c.313A>C (p.Lys105Gln)
| |
13 | g.20189270C>A | CA6904283 | GJB2 | c.312G>T (p.Arg104Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189270C= | CA2077139553 | GJB2 | c.312G= (p.Arg104=)
| |
13 | g.20189270C>G | CA387461416 | GJB2 | c.312G>C (p.Arg104Ser)
| |
13 | g.20189270C>T | CA246460386 | GJB2 | c.312G>A (p.Arg104=)
| ClinVar dbSNP gnomAD v4 COSMIC |
13 | g.20189271C>A | CA387461417 | GJB2 | c.311G>T (p.Arg104Met)
| |
13 | g.20189271C>G | CA387461418 | GJB2 | c.311G>C (p.Arg104Thr)
| gnomAD v4 |
13 | g.20189271C>T | CA387461419 | GJB2 | c.311G>A (p.Arg104Lys)
| gnomAD v4 |
13 | g.20189271_20189274delinsCTCT | CA2077139558 | GJB2 | c.308_311delinsAGAG (p.Lys103=)
| |
13 | g.20189272T>A | CA387461420 | GJB2 | c.310A>T (p.Arg104Trp)
| |
13 | g.20189272T>C | CA387461421 | GJB2 | c.310A>G (p.Arg104Gly)
| gnomAD v4 |
13 | g.20189272T>G | CA483153742 | GJB2 | c.310A>C (p.Arg104=)
| ClinVar dbSNP |
13 | g.20189272T= | CA2077139564 | GJB2 | c.310A= (p.Arg104=)
| |
13 | g.20189278_20189280del | CA645587645 | GJB2 | c.308_310del (p.Lys103del)
| ClinVar dbSNP gnomAD v4 COSMIC |
13 | g.20189273C>A | CA387461422 | GJB2 | c.309G>T (p.Lys103Asn)
| |
13 | g.20189273C= | CA2077139569 | GJB2 | c.309G= (p.Lys103=)
| |
13 | g.20189273C>G | CA387461423 | GJB2 | c.309G>C (p.Lys103Asn)
| |
13 | g.20189273C>T | CA483153743 | GJB2 | c.309G>A (p.Lys103=)
| dbSNP gnomAD v4 |
13 | g.20189274T>A | CA246460392 | GJB2 | c.308A>T (p.Lys103Met)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189274T>C | CA387461424 | GJB2 | c.308A>G (p.Lys103Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189274T>G | CA387461425 | GJB2 | c.308A>C (p.Lys103Thr)
| |
13 | g.20189274T= | CA2077139572 | GJB2 | c.308A= (p.Lys103=)
| |
13 | g.20189275T>A | CA387461428 | GJB2 | c.307A>T (p.Lys103Ter)
| |
13 | g.20189275T>C | CA387461427 | GJB2 | c.307A>G (p.Lys103Glu)
| |
13 | g.20189275T>G | CA387461426 | GJB2 | c.307A>C (p.Lys103Gln)
| |
13 | g.20189275T= | CA2077139579 | GJB2 | c.307A= (p.Lys103=)
| |
13 | g.20189275_20189276insTCTGAAGAGTGGATCTCACTTG | CA2077139585 | GJB2 | c.306_307insCAAGTGAGATCCACTCTTCAGA (p.Lys103GlnfsTer19)
| dbSNP |
13 | g.20189276C>A | CA387461429 | GJB2 | c.306G>T (p.Lys102Asn)
| |
13 | g.20189276C= | CA2077139588 | GJB2 | c.306G= (p.Lys102=)
| |
13 | g.20189276C>G | CA6904285 | GJB2 | c.306G>C (p.Lys102Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189276C>T | CA6904284 | GJB2 | c.306G>A (p.Lys102=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189277T>A | CA387461430 | GJB2 | c.305A>T (p.Lys102Met)
| |
13 | g.20189277T>C | CA387461431 | GJB2 | c.305A>G (p.Lys102Arg)
| |
13 | g.20189277T>G | CA387461432 | GJB2 | c.305A>C (p.Lys102Thr)
| |
13 | g.20189278T>A | CA387461433 | GJB2 | c.304A>T (p.Lys102Ter)
| |
13 | g.20189278T>C | CA387461434 | GJB2 | c.304A>G (p.Lys102Glu)
| gnomAD v4 |
13 | g.20189278T>G | CA387461435 | GJB2 | c.304A>C (p.Lys102Gln)
| gnomAD v4 |
13 | g.20189278_20189281del | CA912980095 | GJB2 | c.301_304del (p.Glu101ArgfsTer10)
| |
13 | g.20189278_20189281delinsTCTC | CA2077139597 | GJB2 | c.301_304delinsGAGA (p.Glu101=)
| |
13 | g.20189279C>A | CA387461436 | GJB2 | c.303G>T (p.Glu101Asp)
| |
13 | g.20189279C>G | CA387461437 | GJB2 | c.303G>C (p.Glu101Asp)
| gnomAD v4 |
13 | g.20189279C>T | CA483153744 | GJB2 | c.303G>A (p.Glu101=)
| ClinVar |
13 | g.20189279_20189281del | CA658823458 | GJB2 | c.301_303del (p.Glu101del)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189280T>A | CA387461440 | GJB2 | c.302A>T (p.Glu101Val)
| |
13 | g.20189280T>C | CA387461439 | GJB2 | c.302A>G (p.Glu101Gly)
| |
13 | g.20189280T>G | CA387461438 | GJB2 | c.302A>C (p.Glu101Ala)
| |
13 | g.20189281C>A | CA387461443 | GJB2 | c.301G>T (p.Glu101Ter)
| |
13 | g.20189281C>G | CA387461441 | GJB2 | c.301G>C (p.Glu101Gln)
| |
13 | g.20189281C>T | CA387461442 | GJB2 | c.301G>A (p.Glu101Lys)
| |
13 | g.20189281_20189283delinsCAT | CA2077139606 | GJB2 | c.299_301delinsATG (p.His100=)
| |
13 | g.20189282A= | CA2077139615 | GJB2 | c.300T= (p.His100=)
| |
13 | g.20189282A>C | CA387461444 | GJB2 | c.300T>G (p.His100Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189282A>G | CA483153745 | GJB2 | c.300T>C (p.His100=)
| ClinVar dbSNP |
13 | g.20189282A>T | CA387461445 | GJB2 | c.300T>A (p.His100Gln)
| gnomAD v4 |
13 | g.20189282_20189283del | CA261643 | GJB2 | c.299_300del (p.His100ArgfsTer14)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189283T>A | CA387461446 | GJB2 | c.299A>T (p.His100Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189283T>C | CA387461447 | GJB2 | c.299A>G (p.His100Arg)
| |
13 | g.20189283T>G | CA387461448 | GJB2 | c.299A>C (p.His100Pro)
| |
13 | g.20189283T= | CA2077139623 | GJB2 | c.299A= (p.His100=)
| |
13 | g.20189283_20189284delinsTG | CA2077139622 | GJB2 | c.298_299delinsCA (p.His100=)
| |
13 | g.20189284del | CA6904286 | GJB2 | c.298del (p.His100MetfsTer12)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189284G>A | CA172221 | GJB2 | c.298C>T (p.His100Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189284G>C | CA387461449 | GJB2 | c.298C>G (p.His100Asp)
| |
13 | g.20189284G= | CA2077139632 | GJB2 | c.298C= (p.His100=)
| |
13 | g.20189284G>T | CA387461450 | GJB2 | c.298C>A (p.His100Asn)
| |
13 | g.20189286_20189292dup | CA2695217684 | GJB2 | c.292_298dup (p.His100ProfsTer4)
| |
13 | g.20189285T>A | CA246460435 | GJB2 | c.297A>T (p.Arg99Ser)
| dbSNP |
13 | g.20189285T>C | CA483153746 | GJB2 | c.297A>G (p.Arg99=)
| gnomAD v4 |
13 | g.20189285T>G | CA387461451 | GJB2 | c.297A>C (p.Arg99Ser)
| |
13 | g.20189285T= | CA2077139637 | GJB2 | c.297A= (p.Arg99=)
| |
13 | g.20189287_20189288del | CA2695217685 | GJB2 | c.296_297del (p.Arg99ThrfsTer2)
| |
13 | g.20189285_20189286insA | CA2077139640 | GJB2 | c.296_297insT (p.Arg99SerfsTer3)
| dbSNP |
13 | g.20189286C>A | CA387461452 | GJB2 | c.296G>T (p.Arg99Ile)
| |
13 | g.20189286C= | CA2077139642 | GJB2 | c.296G= (p.Arg99=)
| |
13 | g.20189286C>G | CA387461453 | GJB2 | c.296G>C (p.Arg99Thr)
| |
13 | g.20189286C>T | CA387461454 | GJB2 | c.296G>A (p.Arg99Lys)
| dbSNP gnomAD v4 |
13 | g.20189287T>A | CA387461455 | GJB2 | c.295A>T (p.Arg99Ter)
| |
13 | g.20189287T>C | CA387461456 | GJB2 | c.295A>G (p.Arg99Gly)
| |
13 | g.20189287T>G | CA483153747 | GJB2 | c.295A>C (p.Arg99=)
| |
13 | g.20189287_20189292delinsCGGG | CA2695217710 | GJB2 | c.290_295delinsCCCG (p.Tyr97SerfsTer4)
| |
13 | g.20189288C>A | CA483153748 | GJB2 | c.294G>T (p.Arg98=)
| |
13 | g.20189288C= | CA2077139645 | GJB2 | c.294G= (p.Arg98=)
| |
13 | g.20189288C>G | CA483153749 | GJB2 | c.294G>C (p.Arg98=)
| ClinVar dbSNP |
13 | g.20189288C>T | CA483153750 | GJB2 | c.294G>A (p.Arg98=)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189289C>A | CA387461457 | GJB2 | c.293G>T (p.Arg98Leu)
| |
13 | g.20189289C= | CA2077139651 | GJB2 | c.293G= (p.Arg98=)
| |
13 | g.20189289C>G | CA387461458 | GJB2 | c.293G>C (p.Arg98Pro)
| |
13 | g.20189289C>T | CA6904287 | GJB2 | c.293G>A (p.Arg98Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189290G>A | CA6904288 | GJB2 | c.292C>T (p.Arg98Trp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189290G>C | CA387461459 | GJB2 | c.292C>G (p.Arg98Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189290G= | CA2077139653 | GJB2 | c.292C= (p.Arg98=)
| |
13 | g.20189290G>T | CA483153751 | GJB2 | c.292C>A (p.Arg98=)
| |
13 | g.20189291G>A | CA6904289 | GJB2 | c.291C>T (p.Tyr97=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189291G>C | CA387461460 | GJB2 | c.291C>G (p.Tyr97Ter)
| gnomAD v4 |
13 | g.20189291G= | CA2077139659 | GJB2 | c.291C= (p.Tyr97=)
| |
13 | g.20189291G>T | CA387461461 | GJB2 | c.291C>A (p.Tyr97Ter)
| |
13 | g.20189292T>A | CA387461464 | GJB2 | c.290A>T (p.Tyr97Phe)
| |
13 | g.20189292T>C | CA387461462 | GJB2 | c.290A>G (p.Tyr97Cys)
| |
13 | g.20189292T>G | CA387461463 | GJB2 | c.290A>C (p.Tyr97Ser)
| |
13 | g.20189292dup | CA274000 | GJB2 | c.290dup (p.Tyr97Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189293del | CA2839535261 | GJB2 | c.289del (p.Tyr97ThrfsTer15)
| |
13 | g.20189293A= | CA2077139661 | GJB2 | c.289T= (p.Tyr97=)
| |
13 | g.20189293A>C | CA387461466 | GJB2 | c.289T>G (p.Tyr97Asp)
| |
13 | g.20189293A>G | CA387461465 | GJB2 | c.289T>C (p.Tyr97His)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189293A>T | CA387461467 | GJB2 | c.289T>A (p.Tyr97Asn)
| |
13 | g.20189293_20189294insATGCCCATTAATTATTATTGAGCCCATTATTATTAATAAGCCCATTAAGGGCTGAGAAATAGATTTCTTTCCTTTCCTTTTCTTTTTTATATGAAATTAAAT | CA2622252295 | GJB2 | c.288_289insATTTAATTTCATATAAAAAAGAAAAGGAAAGGAAAGAAATCTATTTCTCAGCCCTTAATGGGCTTATTAATAATAATGGGCTCAATAATAATTAATGGGCAT
| gnomAD v4 |
13 | g.20189294G>A | CA6904290 | GJB2 | c.288C>T (p.Ala96=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189294G>C | CA483153753 | GJB2 | c.288C>G (p.Ala96=)
| |
13 | g.20189294G= | CA2077139663 | GJB2 | c.288C= (p.Ala96=)
| |
13 | g.20189294G>T | CA483153752 | GJB2 | c.288C>A (p.Ala96=)
| |
13 | g.20189295G>A | CA387461468 | GJB2 | c.287C>T (p.Ala96Val)
| |
13 | g.20189295G>C | CA6904291 | GJB2 | c.287C>G (p.Ala96Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189295G= | CA2077139666 | GJB2 | c.287C= (p.Ala96=)
| |
13 | g.20189295G>T | CA387461469 | GJB2 | c.287C>A (p.Ala96Asp)
| |
13 | g.20189296C>A | CA387461470 | GJB2 | c.286G>T (p.Ala96Ser)
| |
13 | g.20189296C>G | CA387461471 | GJB2 | c.286G>C (p.Ala96Pro)
| |
13 | g.20189296C>T | CA387461472 | GJB2 | c.286G>A (p.Ala96Thr)
| gnomAD v4 |
13 | g.20189297C>A | CA483153754 | GJB2 | c.285G>T (p.Val95=)
| |
13 | g.20189297C= | CA2077139668 | GJB2 | c.285G= (p.Val95=)
| |
13 | g.20189297C>G | CA483153756 | GJB2 | c.285G>C (p.Val95=)
| |
13 | g.20189297C>T | CA483153755 | GJB2 | c.285G>A (p.Val95=)
| |
13 | g.20189298A= | CA2077139671 | GJB2 | c.284T= (p.Val95=)
| |
13 | g.20189298A>C | CA387461473 | GJB2 | c.284T>G (p.Val95Gly)
| |
13 | g.20189298A>G | CA387461474 | GJB2 | c.284T>C (p.Val95Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189298A>T | CA387461475 | GJB2 | c.284T>A (p.Val95Glu)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189298_20189302dup | CA10575531 | GJB2 | c.280_284dup (p.Ala96ThrfsTer18)
| ClinVar dbSNP |
13 | g.20189299C>A | CA387461477 | GJB2 | c.283G>T (p.Val95Leu)
| |
13 | g.20189299C= | CA2077139672 | GJB2 | c.283G= (p.Val95=)
| |
13 | g.20189299C>G | CA387461476 | GJB2 | c.283G>C (p.Val95Leu)
| |
13 | g.20189299C>T | CA172220 | GJB2 | c.283G>A (p.Val95Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189300G>A | CA6904292 | GJB2 | c.282C>T (p.His94=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189300G>C | CA387461478 | GJB2 | c.282C>G (p.His94Gln)
| dbSNP gnomAD v2 |
13 | g.20189300G= | CA2077139673 | GJB2 | c.282C= (p.His94=)
| |
13 | g.20189300G>T | CA387461479 | GJB2 | c.282C>A (p.His94Gln)
| |
13 | g.20189301T>A | CA134958 | GJB2 | c.281A>T (p.His94Leu)
| ClinVar dbSNP COSMIC |
13 | g.20189301T>C | CA387461480 | GJB2 | c.281A>G (p.His94Arg)
| |
13 | g.20189301T>G | CA387461481 | GJB2 | c.281A>C (p.His94Pro)
| |
13 | g.20189301T= | CA2077139675 | GJB2 | c.281A= (p.His94=)
| |
13 | g.20189302G>A | CA387461482 | GJB2 | c.280C>T (p.His94Tyr)
| ClinVar dbSNP |
13 | g.20189302G>C | CA387461483 | GJB2 | c.280C>G (p.His94Asp)
| |
13 | g.20189302G= | CA2077139677 | GJB2 | c.280C= (p.His94=)
| |
13 | g.20189302G>T | CA387461484 | GJB2 | c.280C>A (p.His94Asn)
| |
13 | g.20189303C>A | CA387461485 | GJB2 | c.279G>T (p.Met93Ile)
| |
13 | g.20189303C= | CA2077139678 | GJB2 | c.279G= (p.Met93=)
| |
13 | g.20189303C>G | CA387461486 | GJB2 | c.279G>C (p.Met93Ile)
| gnomAD v4 COSMIC |
13 | g.20189303C>T | CA134957 | GJB2 | c.279G>A (p.Met93Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189304A= | CA2077139679 | GJB2 | c.278T= (p.Met93=)
| |
13 | g.20189304A>C | CA387461489 | GJB2 | c.278T>G (p.Met93Arg)
| |
13 | g.20189304A>G | CA387461488 | GJB2 | c.278T>C (p.Met93Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189304A>T | CA387461487 | GJB2 | c.278T>A (p.Met93Lys)
| |
13 | g.20189305T>A | CA387461490 | GJB2 | c.277A>T (p.Met93Leu)
| |
13 | g.20189305T>C | CA387461491 | GJB2 | c.277A>G (p.Met93Val)
| ClinVar gnomAD v4 |
13 | g.20189305T>G | CA387461492 | GJB2 | c.277A>C (p.Met93Leu)
| ClinVar |
13 | g.20189306G>A | CA483153757 | GJB2 | c.276C>T (p.Ala92=)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189306G>C | CA483153758 | GJB2 | c.276C>G (p.Ala92=)
| |
13 | g.20189306G= | CA2077139681 | GJB2 | c.276C= (p.Ala92=)
| |
13 | g.20189306G>T | CA483153759 | GJB2 | c.276C>A (p.Ala92=)
| |
13 | g.20189307G>A | CA387461493 | GJB2 | c.275C>T (p.Ala92Val)
| ClinVar dbSNP |
13 | g.20189307G>C | CA387461494 | GJB2 | c.275C>G (p.Ala92Gly)
| dbSNP gnomAD v4 |
13 | g.20189307G= | CA2077139682 | GJB2 | c.275C= (p.Ala92=)
| |
13 | g.20189307G>T | CA387461495 | GJB2 | c.275C>A (p.Ala92Asp)
| |
13 | g.20189308C>A | CA387461496 | GJB2 | c.274G>T (p.Ala92Ser)
| |
13 | g.20189308C>G | CA387461497 | GJB2 | c.274G>C (p.Ala92Pro)
| |
13 | g.20189308C>T | CA387461498 | GJB2 | c.274G>A (p.Ala92Thr)
| |
13 | g.20189309C>A | CA483153762 | GJB2 | c.273G>T (p.Val91=)
| |
13 | g.20189309C>G | CA483153761 | GJB2 | c.273G>C (p.Val91=)
| |
13 | g.20189309C>T | CA483153760 | GJB2 | c.273G>A (p.Val91=)
| |
13 | g.20189310A>C | CA387461499 | GJB2 | c.272T>G (p.Val91Gly)
| gnomAD v4 |
13 | g.20189310A>G | CA387461500 | GJB2 | c.272T>C (p.Val91Ala)
| |
13 | g.20189310A>T | CA387461501 | GJB2 | c.272T>A (p.Val91Glu)
| |
13 | g.20189311C>A | CA387461504 | GJB2 | c.271G>T (p.Val91Leu)
| |
13 | g.20189311C= | CA2077139686 | GJB2 | c.271G= (p.Val91=)
| |
13 | g.20189311C>G | CA387461503 | GJB2 | c.271G>C (p.Val91Leu)
| gnomAD v4 |
13 | g.20189311C>T | CA387461502 | GJB2 | c.271G>A (p.Val91Met)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189312T>A | CA483153763 | GJB2 | c.270A>T (p.Leu90=)
| |
13 | g.20189312T>C | CA483153764 | GJB2 | c.270A>G (p.Leu90=)
| dbSNP gnomAD v4 |
13 | g.20189312T>G | CA483153765 | GJB2 | c.270A>C (p.Leu90=)
| |
13 | g.20189312T= | CA2077139689 | GJB2 | c.270A= (p.Leu90=)
| |
13 | g.20189313del | CA2695217711 | GJB2 | c.269del (p.Leu90GlnfsTer22)
| |
13 | g.20189313A= | CA2077139698 | GJB2 | c.269T= (p.Leu90=)
| |
13 | g.20189313A>C | CA387461505 | GJB2 | c.269T>G (p.Leu90Arg)
| |
13 | g.20189313A>G | CA172219 | GJB2 | c.269T>C (p.Leu90Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189313A>T | CA387461506 | GJB2 | c.269T>A (p.Leu90Gln)
| |
13 | g.20189313dup | CA273448 | GJB2 | c.269dup (p.Val91SerfsTer11)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189315_20189336del | CA2622252297 | GJB2 | c.248_269del (p.Phe83Ter)
| gnomAD v4 |
13 | g.20189314G>A | CA483153766 | GJB2 | c.268C>T (p.Leu90=)
| ClinVar dbSNP gnomAD v4 COSMIC |
13 | g.20189314G>C | CA387461507 | GJB2 | c.268C>G (p.Leu90Val)
| |
13 | g.20189314G= | CA2077139706 | GJB2 | c.268C= (p.Leu90=)
| |
13 | g.20189314G>T | CA387461508 | GJB2 | c.268C>A (p.Leu90Ile)
| |
13 | g.20189315dup | CA2839535262 | GJB2 | c.268dup (p.Leu90ProfsTer12)
| |
13 | g.20189315del | CA2499221953 | GJB2 | c.268del (p.Leu90Ter)
| ClinVar dbSNP |
13 | g.20189315G>A | CA483153767 | GJB2 | c.267C>T (p.Leu89=)
| dbSNP gnomAD v4 |
13 | g.20189315G>C | CA176160 | GJB2 | c.267C>G (p.Leu89=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189315G= | CA2077139709 | GJB2 | c.267C= (p.Leu89=)
| |
13 | g.20189315G>T | CA483153768 | GJB2 | c.267C>A (p.Leu89=)
| ClinVar |
13 | g.20189316A= | CA2077139714 | GJB2 | c.266T= (p.Leu89=)
| |
13 | g.20189316A>C | CA387461509 | GJB2 | c.266T>G (p.Leu89Arg)
| |
13 | g.20189316A>G | CA387461510 | GJB2 | c.266T>C (p.Leu89Pro)
| ClinVar dbSNP |
13 | g.20189316A>T | CA387461511 | GJB2 | c.266T>A (p.Leu89His)
| dbSNP gnomAD v4 |
13 | g.20189317G>A | CA6904293 | GJB2 | c.265C>T (p.Leu89Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189317G>C | CA387461512 | GJB2 | c.265C>G (p.Leu89Val)
| |
13 | g.20189317G= | CA2077139717 | GJB2 | c.265C= (p.Leu89=)
| |
13 | g.20189317G>T | CA387461513 | GJB2 | c.265C>A (p.Leu89Ile)
| |
13 | g.20189318C>A | CA483153769 | GJB2 | c.264G>T (p.Ala88=)
| |
13 | g.20189318C= | CA2077139720 | GJB2 | c.264G= (p.Ala88=)
| |
13 | g.20189318C>G | CA6904295 | GJB2 | c.264G>C (p.Ala88=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189318C>T | CA6904294 | GJB2 | c.264G>A (p.Ala88=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189319G>A | CA387461514 | GJB2 | c.263C>T (p.Ala88Val)
| ClinVar dbSNP |
13 | g.20189319G>C | CA387461516 | GJB2 | c.263C>G (p.Ala88Gly)
| ClinVar dbSNP |
13 | g.20189319G= | CA2077139726 | GJB2 | c.263C= (p.Ala88=)
| |
13 | g.20189319G>T | CA387461515 | GJB2 | c.263C>A (p.Ala88Glu)
| ClinVar dbSNP |
13 | g.20189320C>A | CA387461517 | GJB2 | c.262G>T (p.Ala88Ser)
| gnomAD v4 |
13 | g.20189320C= | CA2077139729 | GJB2 | c.262G= (p.Ala88=)
| |
13 | g.20189320C>G | CA387461518 | GJB2 | c.262G>C (p.Ala88Pro)
| |
13 | g.20189320C>T | CA387461519 | GJB2 | c.262G>A (p.Ala88Thr)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189321T>A | CA483153770 | GJB2 | c.261A>T (p.Pro87=)
| |
13 | g.20189321T>C | CA483153771 | GJB2 | c.261A>G (p.Pro87=)
| |
13 | g.20189321T>G | CA483153772 | GJB2 | c.261A>C (p.Pro87=)
| |
13 | g.20189321dup | CA2838896685 | GJB2 | c.261dup (p.Ala88SerfsTer14)
| |
13 | g.20189322G>A | CA387461520 | GJB2 | c.260C>T (p.Pro87Leu)
| ClinVar dbSNP |
13 | g.20189322G>C | CA387461521 | GJB2 | c.260C>G (p.Pro87Arg)
| |
13 | g.20189322G= | CA2077139733 | GJB2 | c.260C= (p.Pro87=)
| |
13 | g.20189322G>T | CA387461522 | GJB2 | c.260C>A (p.Pro87Gln)
| |
13 | g.20189323_20189325del | CA2695217712 | GJB2 | c.258_260del (p.Pro87del)
| |
13 | g.20189323G>A | CA387461523 | GJB2 | c.259C>T (p.Pro87Ser)
| |
13 | g.20189323G>C | CA387461524 | GJB2 | c.259C>G (p.Pro87Ala)
| |
13 | g.20189323G>T | CA387461525 | GJB2 | c.259C>A (p.Pro87Thr)
| |
13 | g.20189324_20189325del | CA912980096 | GJB2 | c.258_259del (p.Pro87SerfsTer14)
| |
13 | g.20189324C>A | CA246460540 | GJB2 | c.258G>T (p.Thr86=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189324C= | CA2077139735 | GJB2 | c.258G= (p.Thr86=)
| |
13 | g.20189324C>G | CA483153773 | GJB2 | c.258G>C (p.Thr86=)
| |
13 | g.20189324C>T | CA6904296 | GJB2 | c.258G>A (p.Thr86=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189324_20189325delinsCG | CA2077139737 | GJB2 | c.257_258delinsCG (p.Thr86=)
| |
13 | g.20189325del | CA658823467 | GJB2 | c.257del (p.Thr86SerfsTer5)
| ClinVar dbSNP |
13 | g.20189325G>A | CA387461528 | GJB2 | c.257C>T (p.Thr86Met)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189325G>C | CA387461527 | GJB2 | c.257C>G (p.Thr86Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189325G= | CA2077139745 | GJB2 | c.257C= (p.Thr86=)
| |
13 | g.20189325G>T | CA387461526 | GJB2 | c.257C>A (p.Thr86Lys)
| |
13 | g.20189326T>A | CA387461529 | GJB2 | c.256A>T (p.Thr86Ser)
| |
13 | g.20189326T>C | CA387461530 | GJB2 | c.256A>G (p.Thr86Ala)
| ClinVar |
13 | g.20189326T>G | CA387461531 | GJB2 | c.256A>C (p.Thr86Pro)
| |
13 | g.20189327G>A | CA483153774 | GJB2 | c.255C>T (p.Ser85=)
| ClinVar |
13 | g.20189327G>C | CA483153775 | GJB2 | c.255C>G (p.Ser85=)
| |
13 | g.20189327G>T | CA483153776 | GJB2 | c.255C>A (p.Ser85=)
| |
13 | g.20189328G>A | CA387461532 | GJB2 | c.254C>T (p.Ser85Phe)
| COSMIC |
13 | g.20189328G>C | CA387461533 | GJB2 | c.254C>G (p.Ser85Cys)
| |
13 | g.20189328G>T | CA387461534 | GJB2 | c.254C>A (p.Ser85Tyr)
| |
13 | g.20189329A>C | CA387461535 | GJB2 | c.253T>G (p.Ser85Ala)
| gnomAD v4 |
13 | g.20189329A>G | CA387461536 | GJB2 | c.253T>C (p.Ser85Pro)
| gnomAD v4 |
13 | g.20189329A>T | CA387461537 | GJB2 | c.253T>A (p.Ser85Thr)
| gnomAD v4 |
13 | g.20189330C>A | CA483153777 | GJB2 | c.252G>T (p.Val84=)
| |
13 | g.20189330C>G | CA483153778 | GJB2 | c.252G>C (p.Val84=)
| |
13 | g.20189330C>T | CA483153779 | GJB2 | c.252G>A (p.Val84=)
| ClinVar |
13 | g.20189331A>C | CA387461538 | GJB2 | c.251T>G (p.Val84Gly)
| |
13 | g.20189331A>G | CA387461539 | GJB2 | c.251T>C (p.Val84Ala)
| ClinVar gnomAD v4 |
13 | g.20189331A>T | CA387461540 | GJB2 | c.251T>A (p.Val84Glu)
| |
13 | g.20189332C>A | CA234087 | GJB2 | c.250G>T (p.Val84Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189332C= | CA2077139759 | GJB2 | c.250G= (p.Val84=)
| |
13 | g.20189332C>G | CA172218 | GJB2 | c.250G>C (p.Val84Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189332C>T | CA257683 | GJB2 | c.250G>A (p.Val84Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189333G>A | CA6904297 | GJB2 | c.249C>T (p.Phe83=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
13 | g.20189333G>C | CA134955 | GJB2 | c.249C>G (p.Phe83Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189333G= | CA2077139768 | GJB2 | c.249C= (p.Phe83=)
| |
13 | g.20189333G>T | CA387461541 | GJB2 | c.249C>A (p.Phe83Leu)
| |
13 | g.20189335_20189337del | CA2573053787 | GJB2 | c.247_249del (p.Phe83del)
| ClinVar dbSNP |
13 | g.20189334A>C | CA387461542 | GJB2 | c.248T>G (p.Phe83Cys)
| |
13 | g.20189334A>G | CA387461543 | GJB2 | c.248T>C (p.Phe83Ser)
| |
13 | g.20189334A>T | CA387461544 | GJB2 | c.248T>A (p.Phe83Tyr)
| |