X | g.100408509T>A | CA414011400 | PCDH19 | c.89A>T (p.Glu30Val)
| |
X | g.100408509T>C | CA414011401 | PCDH19 | c.89A>G (p.Glu30Gly)
| |
X | g.100408509T>G | CA414011402 | PCDH19 | c.89A>C (p.Glu30Ala)
| |
X | g.100408510C>A | CA414011403 | PCDH19 | c.88G>T (p.Glu30Ter)
| gnomAD v4 |
X | g.100408510C= | CA2447977178 | PCDH19 | c.88G= (p.Glu30=)
| |
X | g.100408510C>G | CA414011404 | PCDH19 | c.88G>C (p.Glu30Gln)
| gnomAD v4 |
X | g.100408510C>T | CA333826111 | PCDH19 | c.88G>A (p.Glu30Lys)
| ClinVar dbSNP gnomAD v4 |
X | g.100408511T>A | CA517748902 | PCDH19 | c.87A>T (p.Val29=)
| |
X | g.100408511T>C | CA517748904 | PCDH19 | c.87A>G (p.Val29=)
| |
X | g.100408511T>G | CA517748906 | PCDH19 | c.87A>C (p.Val29=)
| |
X | g.100408512A>C | CA414011405 | PCDH19 | c.86T>G (p.Val29Gly)
| |
X | g.100408512A>G | CA414011407 | PCDH19 | c.86T>C (p.Val29Ala)
| |
X | g.100408512A>T | CA414011406 | PCDH19 | c.86T>A (p.Val29Glu)
| gnomAD v4 |
X | g.100408512_100408513delinsAC | CA2447977179 | PCDH19 | c.85_86delinsGT (p.Val29=)
| |
X | g.100408513C>A | CA414011408 | PCDH19 | c.85G>T (p.Val29Leu)
| |
X | g.100408513C= | CA2447977180 | PCDH19 | c.85G= (p.Val29=)
| |
X | g.100408513C>G | CA414011409 | PCDH19 | c.85G>C (p.Val29Leu)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.100408513C>T | CA414011410 | PCDH19 | c.85G>A (p.Val29Ile)
| gnomAD v4 |
X | g.100408514del | CA1139667699 | PCDH19 | c.85del (p.Val29Ter)
| ClinVar dbSNP |
X | g.100408514C>A | CA517748908 | PCDH19 | c.84G>T (p.Ser28=)
| gnomAD v4 |
X | g.100408514C= | CA2447977181 | PCDH19 | c.84G= (p.Ser28=)
| |
X | g.100408514C>G | CA10469016 | PCDH19 | c.84G>C (p.Ser28=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100408514C>T | CA517748909 | PCDH19 | c.84G>A (p.Ser28=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100408515G>A | CA414011411 | PCDH19 | c.83C>T (p.Ser28Leu)
| gnomAD v4 |
X | g.100408515G>C | CA10469017 | PCDH19 | c.83C>G (p.Ser28Trp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.100408515G= | CA2447977182 | PCDH19 | c.83C= (p.Ser28=)
| |
X | g.100408515G>T | CA414011412 | PCDH19 | c.83C>A (p.Ser28Ter)
| ClinVar dbSNP gnomAD v4 |
X | g.100408516A>C | CA414011413 | PCDH19 | c.82T>G (p.Ser28Ala)
| ClinVar |
X | g.100408516A>G | CA414011414 | PCDH19 | c.82T>C (p.Ser28Pro)
| |
X | g.100408516A>T | CA414011415 | PCDH19 | c.82T>A (p.Ser28Thr)
| gnomAD v4 |
X | g.100408517G>A | CA147198 | PCDH19 | c.81C>T (p.Tyr27=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100408517G>C | CA414011416 | PCDH19 | c.81C>G (p.Tyr27Ter)
| ClinVar dbSNP gnomAD v4 |
X | g.100408517G= | CA2447977183 | PCDH19 | c.81C= (p.Tyr27=)
| |
X | g.100408517G>T | CA414011417 | PCDH19 | c.81C>A (p.Tyr27Ter)
| gnomAD v4 |
X | g.100408518T>A | CA414011418 | PCDH19 | c.80A>T (p.Tyr27Phe)
| |
X | g.100408518T>C | CA414011420 | PCDH19 | c.80A>G (p.Tyr27Cys)
| |
X | g.100408518T>G | CA414011419 | PCDH19 | c.80A>C (p.Tyr27Ser)
| |
X | g.100408519A= | CA2447977184 | PCDH19 | c.79T= (p.Tyr27=)
| |
X | g.100408519A>C | CA414011421 | PCDH19 | c.79T>G (p.Tyr27Asp)
| |
X | g.100408519A>G | CA414011422 | PCDH19 | c.79T>C (p.Tyr27His)
| |
X | g.100408519A>T | CA414011423 | PCDH19 | c.79T>A (p.Tyr27Asn)
| ClinVar dbSNP |
X | g.100408520del | CA2695234753 | PCDH19 | c.78del (p.Lys26AsnfsTer4)
| |
X | g.100408520C>A | CA414011424 | PCDH19 | c.78G>T (p.Lys26Asn)
| |
X | g.100408520C= | CA2447977185 | PCDH19 | c.78G= (p.Lys26=)
| |
X | g.100408520C>G | CA414011425 | PCDH19 | c.78G>C (p.Lys26Asn)
| |
X | g.100408520C>T | CA517748919 | PCDH19 | c.78G>A (p.Lys26=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.100408521T>A | CA10469018 | PCDH19 | c.77A>T (p.Lys26Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100408521T>C | CA414011426 | PCDH19 | c.77A>G (p.Lys26Arg)
| dbSNP gnomAD v4 |
X | g.100408521T>G | CA414011427 | PCDH19 | c.77A>C (p.Lys26Thr)
| ClinVar dbSNP |
X | g.100408521T= | CA2447977186 | PCDH19 | c.77A= (p.Lys26=)
| |
X | g.100408522T>A | CA414011428 | PCDH19 | c.76A>T (p.Lys26Ter)
| gnomAD v4 |
X | g.100408522T>C | CA414011429 | PCDH19 | c.76A>G (p.Lys26Glu)
| gnomAD v4 COSMIC |
X | g.100408522T>G | CA414011430 | PCDH19 | c.76A>C (p.Lys26Gln)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.100408522T= | CA2447977187 | PCDH19 | c.76A= (p.Lys26=)
| |
X | g.100408523G>A | CA517748921 | PCDH19 | c.75C>T (p.Leu25=)
| dbSNP |
X | g.100408523G>C | CA517748922 | PCDH19 | c.75C>G (p.Leu25=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.100408523G= | CA2447977188 | PCDH19 | c.75C= (p.Leu25=)
| |
X | g.100408523G>T | CA517748923 | PCDH19 | c.75C>A (p.Leu25=)
| gnomAD v4 |
X | g.100408524A>C | CA414011432 | PCDH19 | c.74T>G (p.Leu25Arg)
| |
X | g.100408524A>G | CA414011433 | PCDH19 | c.74T>C (p.Leu25Pro)
| ClinVar gnomAD v4 |
X | g.100408524A>T | CA414011431 | PCDH19 | c.74T>A (p.Leu25His)
| |
X | g.100408525G>A | CA414011436 | PCDH19 | c.73C>T (p.Leu25Phe)
| |
X | g.100408525G>C | CA414011434 | PCDH19 | c.73C>G (p.Leu25Val)
| |
X | g.100408525G>T | CA414011435 | PCDH19 | c.73C>A (p.Leu25Ile)
| gnomAD v4 |
X | g.100408526A>C | CA414011437 | PCDH19 | c.72T>G (p.Asn24Lys)
| |
X | g.100408526A>G | CA517748926 | PCDH19 | c.72T>C (p.Asn24=)
| |
X | g.100408526A>T | CA414011438 | PCDH19 | c.72T>A (p.Asn24Lys)
| |
X | g.100408527T>A | CA414011439 | PCDH19 | c.71A>T (p.Asn24Ile)
| |
X | g.100408527T>C | CA414011440 | PCDH19 | c.71A>G (p.Asn24Ser)
| |
X | g.100408527T>G | CA414011441 | PCDH19 | c.71A>C (p.Asn24Thr)
| |
X | g.100408528T>A | CA414011442 | PCDH19 | c.70A>T (p.Asn24Tyr)
| gnomAD v4 |
X | g.100408528T>C | CA414011443 | PCDH19 | c.70A>G (p.Asn24Asp)
| gnomAD v4 |
X | g.100408528T>G | CA414011444 | PCDH19 | c.70A>C (p.Asn24His)
| |
X | g.100408529A>C | CA414011445 | PCDH19 | c.69T>G (p.Ile23Met)
| |
X | g.100408529A>G | CA517748322 | PCDH19 | c.69T>C (p.Ile23=)
| gnomAD v4 |
X | g.100408529A>T | CA517748324 | PCDH19 | c.69T>A (p.Ile23=)
| |
X | g.100408530A>C | CA414011446 | PCDH19 | c.68T>G (p.Ile23Ser)
| |
X | g.100408530A>G | CA414011447 | PCDH19 | c.68T>C (p.Ile23Thr)
| |
X | g.100408530A>T | CA414011448 | PCDH19 | c.68T>A (p.Ile23Asn)
| gnomAD v4 |
X | g.100408531T>A | CA414011451 | PCDH19 | c.67A>T (p.Ile23Phe)
| |
X | g.100408531T>C | CA414011450 | PCDH19 | c.67A>G (p.Ile23Val)
| |
X | g.100408531T>G | CA414011449 | PCDH19 | c.67A>C (p.Ile23Leu)
| |
X | g.100408532G>A | CA10469020 | PCDH19 | c.66C>T (p.Leu22=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.100408532G>C | CA517748331 | PCDH19 | c.66C>G (p.Leu22=)
| |
X | g.100408532G= | CA2447977189 | PCDH19 | c.66C= (p.Leu22=)
| |
X | g.100408532G>T | CA10469019 | PCDH19 | c.66C>A (p.Leu22=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.100408533A>C | CA414011452 | PCDH19 | c.65T>G (p.Leu22Arg)
| |
X | g.100408533A>G | CA414011453 | PCDH19 | c.65T>C (p.Leu22Pro)
| gnomAD v4 |
X | g.100408533A>T | CA414011454 | PCDH19 | c.65T>A (p.Leu22His)
| |
X | g.100408534G>A | CA414011455 | PCDH19 | c.64C>T (p.Leu22Phe)
| dbSNP gnomAD v2 |
X | g.100408534G>C | CA414011456 | PCDH19 | c.64C>G (p.Leu22Val)
| |
X | g.100408534G= | CA2447977190 | PCDH19 | c.64C= (p.Leu22=)
| |
X | g.100408534G>T | CA414011457 | PCDH19 | c.64C>A (p.Leu22Ile)
| gnomAD v4 |
X | g.100408536del | CA2695234754 | PCDH19 | c.64del (p.Leu22SerfsTer8)
| |
X | g.100408535G>A | CA517748345 | PCDH19 | c.63C>T (p.Ala21=)
| gnomAD v4 |
X | g.100408535G>C | CA517748340 | PCDH19 | c.63C>G (p.Ala21=)
| |
X | g.100408535G>T | CA517748339 | PCDH19 | c.63C>A (p.Ala21=)
| gnomAD v4 |
X | g.100408535_100408549delinsGGCGGCAGCCTGCGT | CA2447977191 | PCDH19 | c.49_63delinsACGCAGGCTGCCGCC (p.Thr17=)
| |
X | g.100408536G>A | CA414011458 | PCDH19 | c.62C>T (p.Ala21Val)
| gnomAD v4 |
X | g.100408536G>C | CA414011459 | PCDH19 | c.62C>G (p.Ala21Gly)
| |
X | g.100408536G>T | CA414011460 | PCDH19 | c.62C>A (p.Ala21Asp)
| gnomAD v4 |
X | g.100408539_100408548del | CA2573159035 | PCDH19 | c.53_62del (p.Gln18ProfsTer9)
| ClinVar dbSNP |
X | g.100408536_100408549del | CA915951280 | PCDH19 | c.49_62del (p.Thr17ProfsTer3)
| ClinVar dbSNP |
X | g.100408537C>A | CA414011461 | PCDH19 | c.61G>T (p.Ala21Ser)
| gnomAD v4 |
X | g.100408537C>G | CA414011462 | PCDH19 | c.61G>C (p.Ala21Pro)
| |
X | g.100408537C>T | CA414011463 | PCDH19 | c.61G>A (p.Ala21Thr)
| gnomAD v4 COSMIC |
X | g.100408538G>A | CA517748349 | PCDH19 | c.60C>T (p.Ala20=)
| ClinVar dbSNP gnomAD v4 COSMIC |
X | g.100408538G>C | CA517748350 | PCDH19 | c.60C>G (p.Ala20=)
| gnomAD v4 |
X | g.100408538G>T | CA517748351 | PCDH19 | c.60C>A (p.Ala20=)
| gnomAD v4 |
X | g.100408539G>A | CA414011465 | PCDH19 | c.59C>T (p.Ala20Val)
| ClinVar gnomAD v4 |
X | g.100408539G>C | CA414011466 | PCDH19 | c.59C>G (p.Ala20Gly)
| |
X | g.100408539G>T | CA414011464 | PCDH19 | c.59C>A (p.Ala20Asp)
| gnomAD v4 |
X | g.100408540C>A | CA414011467 | PCDH19 | c.58G>T (p.Ala20Ser)
| gnomAD v4 |
X | g.100408540C= | CA2447977192 | PCDH19 | c.58G= (p.Ala20=)
| |
X | g.100408540C>G | CA414011468 | PCDH19 | c.58G>C (p.Ala20Pro)
| ClinVar dbSNP gnomAD v4 |
X | g.100408540C>T | CA414011469 | PCDH19 | c.58G>A (p.Ala20Thr)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.100408541A>C | CA517748357 | PCDH19 | c.57T>G (p.Ala19=)
| gnomAD v4 |
X | g.100408541A>G | CA517748358 | PCDH19 | c.57T>C (p.Ala19=)
| |
X | g.100408541A>T | CA517748381 | PCDH19 | c.57T>A (p.Ala19=)
| |
X | g.100408542G>A | CA414011470 | PCDH19 | c.56C>T (p.Ala19Val)
| ClinVar dbSNP gnomAD v4 |
X | g.100408542G>C | CA414011471 | PCDH19 | c.56C>G (p.Ala19Gly)
| |
X | g.100408542G= | CA2447977193 | PCDH19 | c.56C= (p.Ala19=)
| |
X | g.100408542G>T | CA414011472 | PCDH19 | c.56C>A (p.Ala19Asp)
| |
X | g.100408543C>A | CA414011475 | PCDH19 | c.55G>T (p.Ala19Ser)
| gnomAD v4 |
X | g.100408543C>G | CA414011473 | PCDH19 | c.55G>C (p.Ala19Pro)
| |
X | g.100408543C>T | CA414011474 | PCDH19 | c.55G>A (p.Ala19Thr)
| gnomAD v4 |
X | g.100408544C>A | CA414011476 | PCDH19 | c.54G>T (p.Gln18His)
| gnomAD v4 |
X | g.100408544C>G | CA414011477 | PCDH19 | c.54G>C (p.Gln18His)
| gnomAD v4 |
X | g.100408544C>T | CA517748386 | PCDH19 | c.54G>A (p.Gln18=)
| |
X | g.100408545T>A | CA414011478 | PCDH19 | c.53A>T (p.Gln18Leu)
| |
X | g.100408545T>C | CA414011479 | PCDH19 | c.53A>G (p.Gln18Arg)
| gnomAD v4 |
X | g.100408545T>G | CA414011480 | PCDH19 | c.53A>C (p.Gln18Pro)
| |
X | g.100408546G>A | CA414011481 | PCDH19 | c.52C>T (p.Gln18Ter)
| ClinVar dbSNP gnomAD v4 |
X | g.100408546G>C | CA414011483 | PCDH19 | c.52C>G (p.Gln18Glu)
| |
X | g.100408546G>T | CA414011482 | PCDH19 | c.52C>A (p.Gln18Lys)
| gnomAD v4 |
X | g.100408547C>A | CA517748398 | PCDH19 | c.51G>T (p.Thr17=)
| gnomAD v4 |
X | g.100408547C= | CA2447977194 | PCDH19 | c.51G= (p.Thr17=)
| |
X | g.100408547C>G | CA517748399 | PCDH19 | c.51G>C (p.Thr17=)
| |
X | g.100408547C>T | CA10469021 | PCDH19 | c.51G>A (p.Thr17=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.100408548G>A | CA414011484 | PCDH19 | c.50C>T (p.Thr17Met)
| ClinVar dbSNP gnomAD v4 COSMIC |
X | g.100408548G>C | CA414011485 | PCDH19 | c.50C>G (p.Thr17Arg)
| |
X | g.100408548G= | CA2447977195 | PCDH19 | c.50C= (p.Thr17=)
| |
X | g.100408548G>T | CA414011486 | PCDH19 | c.50C>A (p.Thr17Lys)
| gnomAD v4 |
X | g.100408549T>A | CA414011487 | PCDH19 | c.49A>T (p.Thr17Ser)
| gnomAD v4 |
X | g.100408549T>C | CA414011488 | PCDH19 | c.49A>G (p.Thr17Ala)
| |
X | g.100408549T>G | CA414011489 | PCDH19 | c.49A>C (p.Thr17Pro)
| |
X | g.100408550C>A | CA414011490 | PCDH19 | c.48G>T (p.Trp16Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100408550C= | CA2447977196 | PCDH19 | c.48G= (p.Trp16=)
| |
X | g.100408550C>G | CA10469022 | PCDH19 | c.48G>C (p.Trp16Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.100408550C>T | CA414011491 | PCDH19 | c.48G>A (p.Trp16Ter)
| |
X | g.100408551C>A | CA414011492 | PCDH19 | c.47G>T (p.Trp16Leu)
| gnomAD v4 |
X | g.100408551C>G | CA414011494 | PCDH19 | c.47G>C (p.Trp16Ser)
| |
X | g.100408551C>T | CA414011493 | PCDH19 | c.47G>A (p.Trp16Ter)
| gnomAD v4 |
X | g.100408552A>C | CA414011495 | PCDH19 | c.46T>G (p.Trp16Gly)
| |
X | g.100408552A>G | CA414011497 | PCDH19 | c.46T>C (p.Trp16Arg)
| gnomAD v4 |
X | g.100408552A>T | CA414011496 | PCDH19 | c.46T>A (p.Trp16Arg)
| gnomAD v4 |
X | g.100408553C>A | CA517748408 | PCDH19 | c.45G>T (p.Leu15=)
| |
X | g.100408553C>G | CA517748409 | PCDH19 | c.45G>C (p.Leu15=)
| |
X | g.100408553C>T | CA517748411 | PCDH19 | c.45G>A (p.Leu15=)
| gnomAD v4 |
X | g.100408554A>C | CA414011498 | PCDH19 | c.44T>G (p.Leu15Arg)
| |
X | g.100408554A>G | CA414011499 | PCDH19 | c.44T>C (p.Leu15Pro)
| gnomAD v4 |
X | g.100408554A>T | CA414011500 | PCDH19 | c.44T>A (p.Leu15Gln)
| gnomAD v4 |
X | g.100408555G>A | CA517748420 | PCDH19 | c.43C>T (p.Leu15=)
| gnomAD v4 |
X | g.100408555G>C | CA414011501 | PCDH19 | c.43C>G (p.Leu15Val)
| dbSNP |
X | g.100408555G= | CA2447977197 | PCDH19 | c.43C= (p.Leu15=)
| |
X | g.100408555G>T | CA414011502 | PCDH19 | c.43C>A (p.Leu15Met)
| ClinVar gnomAD v4 COSMIC |
X | g.100408556T>A | CA517748425 | PCDH19 | c.42A>T (p.Ile14=)
| |
X | g.100408556T>C | CA414011503 | PCDH19 | c.42A>G (p.Ile14Met)
| |
X | g.100408556T>G | CA517748427 | PCDH19 | c.42A>C (p.Ile14=)
| |
X | g.100408557A>C | CA414011504 | PCDH19 | c.41T>G (p.Ile14Arg)
| |
X | g.100408557A>G | CA414011505 | PCDH19 | c.41T>C (p.Ile14Thr)
| gnomAD v4 |
X | g.100408557A>T | CA414011506 | PCDH19 | c.41T>A (p.Ile14Lys)
| |
X | g.100408558T>A | CA414011507 | PCDH19 | c.40A>T (p.Ile14Leu)
| |
X | g.100408558T>C | CA414011508 | PCDH19 | c.40A>G (p.Ile14Val)
| |
X | g.100408558T>G | CA414011509 | PCDH19 | c.40A>C (p.Ile14Leu)
| gnomAD v4 |
X | g.100408558_100408577delinsTGGCCAGCAGCAGCAGCACC | CA2447977198 | PCDH19 | c.21_40delinsGGTGCTGCTGCTGCTGGCCA (p.Pro7=)
| |
X | g.100408559G>A | CA10469023 | PCDH19 | c.39C>T (p.Ala13=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100408559G>C | CA517748431 | PCDH19 | c.39C>G (p.Ala13=)
| |
X | g.100408559G= | CA2447977199 | PCDH19 | c.39C= (p.Ala13=)
| |
X | g.100408559G>T | CA517748432 | PCDH19 | c.39C>A (p.Ala13=)
| gnomAD v4 |
X | g.100408562_100408580del | CA16621153 | PCDH19 | c.21_39del (p.Val8TyrfsTer16)
| ClinVar dbSNP |
X | g.100408560G>A | CA414011510 | PCDH19 | c.38C>T (p.Ala13Val)
| gnomAD v4 |
X | g.100408560G>C | CA414011511 | PCDH19 | c.38C>G (p.Ala13Gly)
| |
X | g.100408560G= | CA2447977200 | PCDH19 | c.38C= (p.Ala13=)
| |
X | g.100408560G>T | CA414011512 | PCDH19 | c.38C>A (p.Ala13Asp)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.100408560_100408561insGCCAGCAGCAGCAGCACCG | CA920427804 | PCDH19 | c.38_39insGGTGCTGCTGCTGCTGGCC (p.Ile14ValfsTer17)
| dbSNP |
X | g.100408561C>A | CA414011513 | PCDH19 | c.37G>T (p.Ala13Ser)
| gnomAD v4 |
X | g.100408561C= | CA2447977202 | PCDH19 | c.37G= (p.Ala13=)
| |
X | g.100408561C>G | CA414011514 | PCDH19 | c.37G>C (p.Ala13Pro)
| |
X | g.100408561C>T | CA414011515 | PCDH19 | c.37G>A (p.Ala13Thr)
| ClinVar dbSNP gnomAD v4 |
X | g.100408561_100408564delinsCCAG | CA2447977201 | PCDH19 | c.34_37delinsCTGG (p.Leu12=)
| |
X | g.100408562C>A | CA517748437 | PCDH19 | c.36G>T (p.Leu12=)
| gnomAD v4 |
X | g.100408562C>G | CA517748438 | PCDH19 | c.36G>C (p.Leu12=)
| |
X | g.100408562C>T | CA517748439 | PCDH19 | c.36G>A (p.Leu12=)
| |
X | g.100408573_100408575dup | CA1135788556 | PCDH19 | c.34_36dup (p.Leu12_Ala13insLeu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.100408573_100408575del | CA316230 | PCDH19 | c.34_36del (p.Leu12del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.100408563A>C | CA414011516 | PCDH19 | c.35T>G (p.Leu12Arg)
| |
X | g.100408563A>G | CA414011517 | PCDH19 | c.35T>C (p.Leu12Pro)
| |
X | g.100408563A>T | CA414011518 | PCDH19 | c.35T>A (p.Leu12Gln)
| gnomAD v4 |
X | g.100408564G>A | CA10469024 | PCDH19 | c.34C>T (p.Leu12=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100408564G>C | CA414011520 | PCDH19 | c.34C>G (p.Leu12Val)
| gnomAD v4 |
X | g.100408564G= | CA2447977203 | PCDH19 | c.34C= (p.Leu12=)
| |
X | g.100408564G>T | CA414011519 | PCDH19 | c.34C>A (p.Leu12Met)
| gnomAD v4 |
X | g.100408564_100408565del | CA2822656803 | PCDH19 | c.33_34del (p.Leu12GlyfsTer12)
| |
X | g.100408565C>A | CA517748447 | PCDH19 | c.33G>T (p.Leu11=)
| gnomAD v4 |
X | g.100408565C= | CA2447977204 | PCDH19 | c.33G= (p.Leu11=)
| |
X | g.100408565C>G | CA517748449 | PCDH19 | c.33G>C (p.Leu11=)
| gnomAD v4 |
X | g.100408565C>T | CA517748451 | PCDH19 | c.33G>A (p.Leu11=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.100408566A>C | CA414011521 | PCDH19 | c.32T>G (p.Leu11Arg)
| |
X | g.100408566A>G | CA414011522 | PCDH19 | c.32T>C (p.Leu11Pro)
| |
X | g.100408566A>T | CA414011523 | PCDH19 | c.32T>A (p.Leu11Gln)
| |
X | g.100408567G>A | CA517748454 | PCDH19 | c.31C>T (p.Leu11=)
| ClinVar dbSNP gnomAD v4 |
X | g.100408567G>C | CA414011524 | PCDH19 | c.31C>G (p.Leu11Val)
| |
X | g.100408567G= | CA2447977205 | PCDH19 | c.31C= (p.Leu11=)
| |
X | g.100408567G>T | CA10469025 | PCDH19 | c.31C>A (p.Leu11Met)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.100408568del | CA2694246160 | PCDH19 | c.30del (p.Leu11CysfsTer19)
| gnomAD v4 |
X | g.100408568C>A | CA517748456 | PCDH19 | c.30G>T (p.Leu10=)
| gnomAD v4 |
X | g.100408568C>G | CA517748457 | PCDH19 | c.30G>C (p.Leu10=)
| |
X | g.100408568C>T | CA517748459 | PCDH19 | c.30G>A (p.Leu10=)
| ClinVar dbSNP gnomAD v4 |
X | g.100408569A>C | CA414011525 | PCDH19 | c.29T>G (p.Leu10Arg)
| |
X | g.100408569A>G | CA414011526 | PCDH19 | c.29T>C (p.Leu10Pro)
| gnomAD v4 |
X | g.100408569A>T | CA414011527 | PCDH19 | c.29T>A (p.Leu10Gln)
| |
X | g.100408570G>A | CA517748464 | PCDH19 | c.28C>T (p.Leu10=)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.100408570G>C | CA414011528 | PCDH19 | c.28C>G (p.Leu10Val)
| |
X | g.100408570G= | CA2447977206 | PCDH19 | c.28C= (p.Leu10=)
| |
X | g.100408570G>T | CA414011529 | PCDH19 | c.28C>A (p.Leu10Met)
| gnomAD v4 |
X | g.100408571C>A | CA517748467 | PCDH19 | c.27G>T (p.Leu9=)
| gnomAD v4 |
X | g.100408571C= | CA2447977207 | PCDH19 | c.27G= (p.Leu9=)
| |
X | g.100408571C>G | CA517748468 | PCDH19 | c.27G>C (p.Leu9=)
| |
X | g.100408571C>T | CA10469026 | PCDH19 | c.27G>A (p.Leu9=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.100408572A>C | CA414011531 | PCDH19 | c.26T>G (p.Leu9Arg)
| |
X | g.100408572A>G | CA414011532 | PCDH19 | c.26T>C (p.Leu9Pro)
| gnomAD v4 |
X | g.100408572A>T | CA414011530 | PCDH19 | c.26T>A (p.Leu9Gln)
| |
X | g.100408573G>A | CA517748472 | PCDH19 | c.25C>T (p.Leu9=)
| gnomAD v4 |
X | g.100408573G>C | CA333826112 | PCDH19 | c.25C>G (p.Leu9Val)
| dbSNP |
X | g.100408573G= | CA2447977208 | PCDH19 | c.25C= (p.Leu9=)
| |
X | g.100408573G>T | CA414011533 | PCDH19 | c.25C>A (p.Leu9Met)
| gnomAD v4 |
X | g.100408574C>A | CA517748473 | PCDH19 | c.24G>T (p.Val8=)
| gnomAD v4 |
X | g.100408574C>G | CA517748474 | PCDH19 | c.24G>C (p.Val8=)
| |
X | g.100408574C>T | CA517748475 | PCDH19 | c.24G>A (p.Val8=)
| gnomAD v4 |
X | g.100408575A>C | CA414011534 | PCDH19 | c.23T>G (p.Val8Gly)
| |
X | g.100408575A>G | CA414011535 | PCDH19 | c.23T>C (p.Val8Ala)
| |
X | g.100408575A>T | CA414011536 | PCDH19 | c.23T>A (p.Val8Glu)
| |
X | g.100408576C>A | CA414011539 | PCDH19 | c.22G>T (p.Val8Leu)
| gnomAD v4 |
X | g.100408576C= | CA2447977209 | PCDH19 | c.22G= (p.Val8=)
| |
X | g.100408576C>G | CA414011537 | PCDH19 | c.22G>C (p.Val8Leu)
| gnomAD v4 |
X | g.100408576C>T | CA414011538 | PCDH19 | c.22G>A (p.Val8Met)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.100408577C>A | CA517748492 | PCDH19 | c.21G>T (p.Pro7=)
| gnomAD v4 |
X | g.100408577C= | CA2447977210 | PCDH19 | c.21G= (p.Pro7=)
| |
X | g.100408577C>G | CA517748496 | PCDH19 | c.21G>C (p.Pro7=)
| ClinVar dbSNP |
X | g.100408577C>T | CA517748494 | PCDH19 | c.21G>A (p.Pro7=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100408578G>A | CA414011540 | PCDH19 | c.20C>T (p.Pro7Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.100408578G>C | CA414011541 | PCDH19 | c.20C>G (p.Pro7Arg)
| gnomAD v3 gnomAD v4 |
X | g.100408578G= | CA2447977211 | PCDH19 | c.20C= (p.Pro7=)
| |
X | g.100408578G>T | CA414011542 | PCDH19 | c.20C>A (p.Pro7Gln)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.100408579G>A | CA414011543 | PCDH19 | c.19C>T (p.Pro7Ser)
| gnomAD v4 |
X | g.100408579G>C | CA414011544 | PCDH19 | c.19C>G (p.Pro7Ala)
| |
X | g.100408579G>T | CA414011545 | PCDH19 | c.19C>A (p.Pro7Thr)
| gnomAD v4 |
X | g.100408580C>A | CA517748503 | PCDH19 | c.18G>T (p.Leu6=)
| gnomAD v4 |
X | g.100408580C>G | CA517748506 | PCDH19 | c.18G>C (p.Leu6=)
| |
X | g.100408580C>T | CA517748511 | PCDH19 | c.18G>A (p.Leu6=)
| |
X | g.100408581A>C | CA414011548 | PCDH19 | c.17T>G (p.Leu6Arg)
| |
X | g.100408581A>G | CA414011549 | PCDH19 | c.17T>C (p.Leu6Pro)
| gnomAD v4 |
X | g.100408581A>T | CA414011547 | PCDH19 | c.17T>A (p.Leu6Gln)
| |
X | g.100408582G>A | CA517748516 | PCDH19 | c.16C>T (p.Leu6=)
| gnomAD v4 |
X | g.100408582G>C | CA414011551 | PCDH19 | c.16C>G (p.Leu6Val)
| dbSNP |
X | g.100408582G= | CA2447977212 | PCDH19 | c.16C= (p.Leu6=)
| |
X | g.100408582G>T | CA414011550 | PCDH19 | c.16C>A (p.Leu6Met)
| gnomAD v4 |
X | g.100408583C>A | CA517748525 | PCDH19 | c.15G>T (p.Leu5=)
| gnomAD v4 |
X | g.100408583C>G | CA517748527 | PCDH19 | c.15G>C (p.Leu5=)
| |
X | g.100408583C>T | CA517748528 | PCDH19 | c.15G>A (p.Leu5=)
| gnomAD v4 |
X | g.100408584A>C | CA414011552 | PCDH19 | c.14T>G (p.Leu5Arg)
| |
X | g.100408584A>G | CA414011553 | PCDH19 | c.14T>C (p.Leu5Pro)
| gnomAD v4 |
X | g.100408584A>T | CA414011554 | PCDH19 | c.14T>A (p.Leu5Gln)
| |
X | g.100408585G>A | CA517748531 | PCDH19 | c.13C>T (p.Leu5=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100408585G>C | CA414011555 | PCDH19 | c.13C>G (p.Leu5Val)
| |
X | g.100408585G= | CA2447977213 | PCDH19 | c.13C= (p.Leu5=)
| |
X | g.100408585G>T | CA414011556 | PCDH19 | c.13C>A (p.Leu5Met)
| gnomAD v4 |
X | g.100408586G>A | CA517748532 | PCDH19 | c.12C>T (p.Leu4=)
| ClinVar dbSNP gnomAD v2 |
X | g.100408586G>C | CA517748533 | PCDH19 | c.12C>G (p.Leu4=)
| |
X | g.100408586G= | CA2447977214 | PCDH19 | c.12C= (p.Leu4=)
| |
X | g.100408586G>T | CA517748534 | PCDH19 | c.12C>A (p.Leu4=)
| gnomAD v4 |
X | g.100408587A>C | CA414011559 | PCDH19 | c.11T>G (p.Leu4Arg)
| |
X | g.100408587A>G | CA414011558 | PCDH19 | c.11T>C (p.Leu4Pro)
| gnomAD v4 |
X | g.100408587A>T | CA414011557 | PCDH19 | c.11T>A (p.Leu4His)
| |
X | g.100408588G>A | CA10469027 | PCDH19 | c.10C>T (p.Leu4Phe)
| dbSNP ExAC gnomAD v4 |
X | g.100408588G>C | CA414011560 | PCDH19 | c.10C>G (p.Leu4Val)
| |
X | g.100408588G= | CA2447977215 | PCDH19 | c.10C= (p.Leu4=)
| |
X | g.100408588G>T | CA414011561 | PCDH19 | c.10C>A (p.Leu4Ile)
| gnomAD v4 |
X | g.100408589C>A | CA517748535 | PCDH19 | c.9G>T (p.Ser3=)
| gnomAD v4 |
X | g.100408589C>G | CA517748537 | PCDH19 | c.9G>C (p.Ser3=)
| |
X | g.100408589C>T | CA517748536 | PCDH19 | c.9G>A (p.Ser3=)
| gnomAD v4 |
X | g.100408590G>A | CA414011562 | PCDH19 | c.8C>T (p.Ser3Leu)
| gnomAD v4 |
X | g.100408590G>C | CA414011563 | PCDH19 | c.8C>G (p.Ser3Trp)
| |
X | g.100408590G>T | CA414011564 | PCDH19 | c.8C>A (p.Ser3Ter)
| ClinVar gnomAD v4 |
X | g.100408591A>C | CA414011565 | PCDH19 | c.7T>G (p.Ser3Ala)
| |
X | g.100408591A>G | CA414011567 | PCDH19 | c.7T>C (p.Ser3Pro)
| |
X | g.100408591A>T | CA414011566 | PCDH19 | c.7T>A (p.Ser3Thr)
| |
X | g.100408592C>A | CA414011568 | PCDH19 | c.6G>T (p.Glu2Asp)
| |
X | g.100408592C= | CA2447977216 | PCDH19 | c.6G= (p.Glu2=)
| |
X | g.100408592C>G | CA414011569 | PCDH19 | c.6G>C (p.Glu2Asp)
| |
X | g.100408592C>T | CA285473 | PCDH19 | c.6G>A (p.Glu2=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100408593T>A | CA414011570 | PCDH19 | c.5A>T (p.Glu2Val)
| |
X | g.100408593T>C | CA414011571 | PCDH19 | c.5A>G (p.Glu2Gly)
| gnomAD v4 |
X | g.100408593T>G | CA414011572 | PCDH19 | c.5A>C (p.Glu2Ala)
| |
X | g.100408594C>A | CA414011573 | PCDH19 | c.4G>T (p.Glu2Ter)
| |
X | g.100408594C>G | CA414011574 | PCDH19 | c.4G>C (p.Glu2Gln)
| |
X | g.100408594C>T | CA414011575 | PCDH19 | c.4G>A (p.Glu2Lys)
| gnomAD v4 |
X | g.100408595C>A | CA414011576 | PCDH19 | c.3G>T (p.Met1Ile)
| |
X | g.100408595C>G | CA414011577 | PCDH19 | c.3G>C (p.Met1Ile)
| |
X | g.100408595C>T | CA414011578 | PCDH19 | c.3G>A (p.Met1Ile)
| ClinVar dbSNP |
X | g.100408596A>C | CA414011579 | PCDH19 | c.2T>G (p.Met1Arg)
| |
X | g.100408596A>G | CA414011581 | PCDH19 | c.2T>C (p.Met1Thr)
| gnomAD v4 |
X | g.100408596A>T | CA414011580 | PCDH19 | c.2T>A (p.Met1Lys)
| |
X | g.100408597T>A | CA414011582 | PCDH19 | c.1A>T (p.Met1Leu)
| |
X | g.100408597T>C | CA414011583 | PCDH19 | c.1A>G (p.Met1Val)
| |
X | g.100408597T>G | CA414011584 | PCDH19 | c.1A>C (p.Met1Leu)
| |
X | g.100408598G>A | CA10469028 | PCDH19 | c.-1C>T (n.-1C>T)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.100408598G= | CA2447977217 | PCDH19 | c.-1C= (n.-1C=)
| |
X | g.100408598G>T | CA2694246165 | PCDH19 | c.-1C>A (n.-1C>A)
| gnomAD v4 |
X | g.100408599del | CA2579659337 | PCDH19 | c.-1del (n.-1del)
| gnomAD v4 |
X | g.100408599G>A | CA333826113 | PCDH19 | c.-2C>T (n.-2C>T)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.100408599G= | CA2447977218 | PCDH19 | c.-2C= (n.-2C=)
| |
X | g.100408599G>T | CA2694246166 | PCDH19 | c.-2C>A (n.-2C>A)
| gnomAD v4 |
X | g.100408600C>A | CA2694246167 | PCDH19 | c.-3G>T (n.-3G>T)
| gnomAD v4 |
X | g.100408600C>T | CA2694246168 | PCDH19 | c.-3G>A (n.-3G>A)
| gnomAD v4 |
X | g.100408602G>A | CA643538114 | PCDH19 | c.-5C>T (n.-5C>T)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.100408602G= | CA2447977219 | PCDH19 | c.-5C= (n.-5C=)
| |
X | g.100408602G>T | CA2579659338 | PCDH19 | c.-5C>A (n.-5C>A)
| gnomAD v4 |
X | g.100408603C>A | CA2694246169 | PCDH19 | c.-6G>T (n.-6G>T)
| gnomAD v4 |
X | g.100408603C>T | CA2694246170 | PCDH19 | c.-6G>A (n.-6G>A)
| gnomAD v4 |
X | g.100408604A>G | CA2694246171 | PCDH19 | c.-7T>C (n.-7T>C)
| gnomAD v4 |
X | g.100408605C>A | CA10469029 | PCDH19 | c.-8G>T (n.-8G>T)
| dbSNP ExAC |
X | g.100408605C= | CA2447977220 | PCDH19 | c.-8G= (n.-8G=)
| |
X | g.100408605C>T | CA2694246172 | PCDH19 | c.-8G>A (n.-8G>A)
| gnomAD v4 |
X | g.100408606G>A | CA316229 | PCDH19 | c.-9C>T (n.-9C>T)
| ClinVar dbSNP gnomAD v4 |
X | g.100408606G>C | CA10469030 | PCDH19 | c.-9C>G (n.-9C>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.100408606G= | CA2447977221 | PCDH19 | c.-9C= (n.-9C=)
| |
X | g.100408606G>T | CA2694246173 | PCDH19 | c.-9C>A (n.-9C>A)
| gnomAD v4 |
X | g.100408609dup | CA658390443 | PCDH19 | c.-9dup (n.-9dup)
| COSMIC |
X | g.100408606_100408607insA | CA658390449 | PCDH19 | c.-10_-9insT (n.-10_-9insT)
| COSMIC |
X | g.100408607G>A | CA643538115 | PCDH19 | c.-10C>T (n.-10C>T)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.100408607G>C | CA2694246174 | PCDH19 | c.-10C>G (n.-10C>G)
| gnomAD v4 |
X | g.100408607G= | CA2447977222 | PCDH19 | c.-10C= (n.-10C=)
| |
X | g.100408607G>T | CA2694246175 | PCDH19 | c.-10C>A (n.-10C>A)
| gnomAD v4 |
X | g.100408608G>T | CA2694246176 | PCDH19 | c.-11C>A (n.-11C>A)
| gnomAD v4 |
X | g.100408609G>A | CA869219630 | PCDH19 | c.-12C>T (n.-12C>T)
| dbSNP gnomAD v4 |
X | g.100408609G= | CA2447977223 | PCDH19 | c.-12C= (n.-12C=)
| |
X | g.100408609G>T | CA2694246177 | PCDH19 | c.-12C>A (n.-12C>A)
| gnomAD v4 |