OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.153725500_153725831del | CA2580101691 | ABCD1 | c.234_565del (p.Leu79AlafsTer5) n.650_981del | ClinVar |
| X | g.153725606_153725626del | CA2573159308 | ABCD1 | c.340_360del (p.Leu114_Arg120del) n.756_776del | ClinVar dbSNP |
| X | g.153725599G>A | CA519345418 | ABCD1 | c.333G>A (p.Val111=) n.749G>A | |
| X | g.153725599G>C | CA519345419 | ABCD1 | c.333G>C (p.Val111=) n.749G>C | |
| X | g.153725599G= | CA2466450980 | ABCD1 | c.333G= (p.Val111=) n.749G= | |
| X | g.153725599G>T | CA10549937 | ABCD1 | c.333G>T (p.Val111=) n.749G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153725600G>A | CA415098643 | ABCD1 | c.334G>A (p.Ala112Thr) n.750G>A | |
| X | g.153725600G>C | CA415098644 | ABCD1 | c.334G>C (p.Ala112Pro) n.750G>C | |
| X | g.153725600G>T | CA415098645 | ABCD1 | c.334G>T (p.Ala112Ser) n.750G>T | |
| X | g.153725601C>A | CA415098646 | ABCD1 | c.335C>A (p.Ala112Asp) n.751C>A | gnomAD v4 |
| X | g.153725601C>G | CA415098647 | ABCD1 | c.335C>G (p.Ala112Gly) n.751C>G | |
| X | g.153725601C>T | CA415098648 | ABCD1 | c.335C>T (p.Ala112Val) n.751C>T | ClinVar |
| X | g.153725603del | CA2695237359 | ABCD1 | c.337del (p.Arg113AlafsTer?) n.753del | |
| X | g.153725602C>A | CA519345424 | ABCD1 | c.336C>A (p.Ala112=) n.752C>A | |
| X | g.153725602C>G | CA519345423 | ABCD1 | c.336C>G (p.Ala112=) n.752C>G | gnomAD v4 |
| X | g.153725602C>T | CA519345425 | ABCD1 | c.336C>T (p.Ala112=) n.752C>T | gnomAD v4 |
| X | g.153725603C>A | CA415098649 | ABCD1 | c.337C>A (p.Arg113Ser) n.753C>A | |
| X | g.153725603C= | CA2466450981 | ABCD1 | c.337C= (p.Arg113=) n.753C= | |
| X | g.153725603C>G | CA415098651 | ABCD1 | c.337C>G (p.Arg113Gly) n.753C>G | |
| X | g.153725603C>T | CA415098650 | ABCD1 | c.337C>T (p.Arg113Cys) n.753C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.153725604G>A | CA415098652 | ABCD1 | c.338G>A (p.Arg113His) n.754G>A | ClinVar dbSNP gnomAD v4 |
| X | g.153725604G>C | CA415098653 | ABCD1 | c.338G>C (p.Arg113Pro) n.754G>C | ClinVar |
| X | g.153725604G= | CA2466450982 | ABCD1 | c.338G= (p.Arg113=) n.754G= | |
| X | g.153725604G>T | CA415098654 | ABCD1 | c.338G>T (p.Arg113Leu) n.754G>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153725605C>A | CA519345427 | ABCD1 | c.339C>A (p.Arg113=) n.755C>A | |
| X | g.153725605C>G | CA519345428 | ABCD1 | c.339C>G (p.Arg113=) n.755C>G | |
| X | g.153725605C>T | CA519345429 | ABCD1 | c.339C>T (p.Arg113=) n.755C>T | |
| X | g.153725606C>A | CA415098655 | ABCD1 | c.340C>A (p.Leu114Met) n.756C>A | |
| X | g.153725606C>G | CA415098656 | ABCD1 | c.340C>G (p.Leu114Val) n.756C>G | |
| X | g.153725606C>T | CA519345431 | ABCD1 | c.340C>T (p.Leu114=) n.756C>T | |
| X | g.153725607T>A | CA415098657 | ABCD1 | c.341T>A (p.Leu114Gln) n.757T>A | |
| X | g.153725607T>C | CA415098658 | ABCD1 | c.341T>C (p.Leu114Pro) n.757T>C | ClinVar dbSNP |
| X | g.153725607T>G | CA415098659 | ABCD1 | c.341T>G (p.Leu114Arg) n.757T>G | |
| X | g.153725607T= | CA2466450983 | ABCD1 | c.341T= (p.Leu114=) n.757T= | |
| X | g.153725608G>A | CA519345432 | ABCD1 | c.342G>A (p.Leu114=) n.758G>A | |
| X | g.153725608G>C | CA519345434 | ABCD1 | c.342G>C (p.Leu114=) n.758G>C | |
| X | g.153725608G>T | CA519345433 | ABCD1 | c.342G>T (p.Leu114=) n.758G>T | |
| X | g.153725609G>A | CA415098660 | ABCD1 | c.343G>A (p.Asp115Asn) n.759G>A | |
| X | g.153725609G>C | CA415098661 | ABCD1 | c.343G>C (p.Asp115His) n.759G>C | |
| X | g.153725609G>T | CA415098662 | ABCD1 | c.343G>T (p.Asp115Tyr) n.759G>T | |
| X | g.153725610A>C | CA415098665 | ABCD1 | c.344A>C (p.Asp115Ala) n.760A>C | |
| X | g.153725610A>G | CA415098663 | ABCD1 | c.344A>G (p.Asp115Gly) n.760A>G | |
| X | g.153725610A>T | CA415098664 | ABCD1 | c.344A>T (p.Asp115Val) n.760A>T | |
| X | g.153725611C>A | CA415098666 | ABCD1 | c.345C>A (p.Asp115Glu) n.761C>A | |
| X | g.153725611C= | CA2466450984 | ABCD1 | c.345C= (p.Asp115=) n.761C= | |
| X | g.153725611C>G | CA415098667 | ABCD1 | c.345C>G (p.Asp115Glu) n.761C>G | |
| X | g.153725611C>T | CA519345438 | ABCD1 | c.345C>T (p.Asp115=) n.761C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.153725612G>A | CA278414 | ABCD1 | c.346G>A (p.Gly116Arg) n.762G>A | ClinVar dbSNP |
| X | g.153725612G>C | CA415098668 | ABCD1 | c.346G>C (p.Gly116Arg) n.762G>C | ClinVar dbSNP |
| X | g.153725612G= | CA2466450985 | ABCD1 | c.346G= (p.Gly116=) n.762G= | |
| X | g.153725612G>T | CA415098669 | ABCD1 | c.346G>T (p.Gly116Ter) n.762G>T | ClinVar gnomAD v4 |
| X | g.153725612_153725614dup | CA2695237362 | ABCD1 | c.346_348dup (p.Gly116_Arg117insGly) n.762_764dup | |
| X | g.153725613G>A | CA415098670 | ABCD1 | c.347G>A (p.Gly116Glu) n.763G>A | ClinVar dbSNP |
| X | g.153725613G>C | CA415098671 | ABCD1 | c.347G>C (p.Gly116Ala) n.763G>C | |
| X | g.153725613G= | CA2466450986 | ABCD1 | c.347G= (p.Gly116=) n.763G= | |
| X | g.153725613G>T | CA415098672 | ABCD1 | c.347G>T (p.Gly116Val) n.763G>T | |
| X | g.153725613_153725614delinsAT | CA2588340115 | ABCD1 | c.347_348delinsAT (p.Gly116Asp) n.763_764delinsAT | |
| X | g.153725614A>C | CA519345443 | ABCD1 | c.348A>C (p.Gly116=) n.764A>C | |
| X | g.153725614A>G | CA519345445 | ABCD1 | c.348A>G (p.Gly116=) n.764A>G | |
| X | g.153725614A>T | CA519345447 | ABCD1 | c.348A>T (p.Gly116=) n.764A>T | |
| X | g.153725615A>C | CA519345448 | ABCD1 | c.349A>C (p.Arg117=) n.765A>C | |
| X | g.153725615A>G | CA415098673 | ABCD1 | c.349A>G (p.Arg117Gly) n.765A>G | |
| X | g.153725615A>T | CA415098674 | ABCD1 | c.349A>T (p.Arg117Trp) n.765A>T | |
| X | g.153725616G>A | CA415098676 | ABCD1 | c.350G>A (p.Arg117Lys) n.766G>A | gnomAD v4 |
| X | g.153725616G>C | CA415098677 | ABCD1 | c.350G>C (p.Arg117Thr) n.766G>C | |
| X | g.153725616G>T | CA415098675 | ABCD1 | c.350G>T (p.Arg117Met) n.766G>T | COSMIC |
| X | g.153725617G>A | CA519345451 | ABCD1 | c.351G>A (p.Arg117=) n.767G>A | ClinVar dbSNP gnomAD v2 |
| X | g.153725617G>C | CA415098679 | ABCD1 | c.351G>C (p.Arg117Ser) n.767G>C | |
| X | g.153725617G= | CA2466450987 | ABCD1 | c.351G= (p.Arg117=) n.767G= | |
| X | g.153725617G>T | CA415098678 | ABCD1 | c.351G>T (p.Arg117Ser) n.767G>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.153725618C>A | CA415098680 | ABCD1 | c.352C>A (p.Leu118Met) n.768C>A | |
| X | g.153725618C>G | CA415098681 | ABCD1 | c.352C>G (p.Leu118Val) n.768C>G | |
| X | g.153725618C>T | CA519345453 | ABCD1 | c.352C>T (p.Leu118=) n.768C>T | ClinVar |
| X | g.153725618_153725619del | CA2695237363 | ABCD1 | c.352_353del (p.Leu118GlyfsTer?) n.768_769del | |
| X | g.153725619T>A | CA415098682 | ABCD1 | c.353T>A (p.Leu118Gln) n.769T>A | |
| X | g.153725619T>C | CA415098683 | ABCD1 | c.353T>C (p.Leu118Pro) n.769T>C | |
| X | g.153725619T>G | CA415098684 | ABCD1 | c.353T>G (p.Leu118Arg) n.769T>G | |
| X | g.153725620G>A | CA519345455 | ABCD1 | c.354G>A (p.Leu118=) n.770G>A | |
| X | g.153725620G>C | CA519345457 | ABCD1 | c.354G>C (p.Leu118=) n.770G>C | |
| X | g.153725620G= | CA2466450988 | ABCD1 | c.354G= (p.Leu118=) n.770G= | |
| X | g.153725620G>T | CA519345459 | ABCD1 | c.354G>T (p.Leu118=) n.770G>T | dbSNP |
| X | g.153725621del | CA2695237364 | ABCD1 | c.355del (p.Ala119ProfsTer?) n.771del | |
| X | g.153725621G>A | CA415098685 | ABCD1 | c.355G>A (p.Ala119Thr) n.771G>A | gnomAD v4 COSMIC |
| X | g.153725621G>C | CA415098686 | ABCD1 | c.355G>C (p.Ala119Pro) n.771G>C | ClinVar dbSNP |
| X | g.153725621G= | CA2466450989 | ABCD1 | c.355G= (p.Ala119=) n.771G= | |
| X | g.153725621G>T | CA10549938 | ABCD1 | c.355G>T (p.Ala119Ser) n.771G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153725622C>A | CA415098687 | ABCD1 | c.356C>A (p.Ala119Asp) n.772C>A | |
| X | g.153725622C>G | CA415098688 | ABCD1 | c.356C>G (p.Ala119Gly) n.772C>G | |
| X | g.153725622C>T | CA415098689 | ABCD1 | c.356C>T (p.Ala119Val) n.772C>T | |
| X | g.153725624dup | CA2695237365 | ABCD1 | c.358dup (p.Arg120ProfsTer?) n.774dup | |
| X | g.153725623C>A | CA519345463 | ABCD1 | c.357C>A (p.Ala119=) n.773C>A | |
| X | g.153725623C= | CA2466450990 | ABCD1 | c.357C= (p.Ala119=) n.773C= | |
| X | g.153725623C>G | CA519345460 | ABCD1 | c.357C>G (p.Ala119=) n.773C>G | |
| X | g.153725623C>T | CA519345462 | ABCD1 | c.357C>T (p.Ala119=) n.773C>T | ClinVar dbSNP |
| X | g.153725624C>A | CA415098690 | ABCD1 | c.358C>A (p.Arg120Ser) n.774C>A | |
| X | g.153725624C= | CA2466450991 | ABCD1 | c.358C= (p.Arg120=) n.774C= | |
| X | g.153725624C>G | CA10549940 | ABCD1 | c.358C>G (p.Arg120Gly) n.774C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153725624C>T | CA10549939 | ABCD1 | c.358C>T (p.Arg120Cys) n.774C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153725625G>A | CA10549941 | ABCD1 | c.359G>A (p.Arg120His) n.775G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153725625G>C | CA415098691 | ABCD1 | c.359G>C (p.Arg120Pro) n.775G>C | ClinVar |
| X | g.153725625G= | CA2466450992 | ABCD1 | c.359G= (p.Arg120=) n.775G= | |
| X | g.153725625G>T | CA415098692 | ABCD1 | c.359G>T (p.Arg120Leu) n.775G>T | gnomAD v4 |
| X | g.153725626C>A | CA519345467 | ABCD1 | c.360C>A (p.Arg120=) n.776C>A | |
| X | g.153725626C= | CA2466450993 | ABCD1 | c.360C= (p.Arg120=) n.776C= | |
| X | g.153725626C>G | CA519345468 | ABCD1 | c.360C>G (p.Arg120=) n.776C>G | dbSNP gnomAD v4 |
| X | g.153725626C>T | CA519345470 | ABCD1 | c.360C>T (p.Arg120=) n.776C>T | |
| X | g.153725627T>A | CA415098693 | ABCD1 | c.361T>A (p.Cys121Ser) n.777T>A | |
| X | g.153725627T>C | CA415098694 | ABCD1 | c.361T>C (p.Cys121Arg) n.777T>C | |
| X | g.153725627T>G | CA415098695 | ABCD1 | c.361T>G (p.Cys121Gly) n.777T>G | |
| X | g.153725628G>A | CA415098696 | ABCD1 | c.362G>A (p.Cys121Tyr) n.778G>A | gnomAD v4 COSMIC |
| X | g.153725628G>C | CA415098697 | ABCD1 | c.362G>C (p.Cys121Ser) n.778G>C | |
| X | g.153725628G>T | CA415098698 | ABCD1 | c.362G>T (p.Cys121Phe) n.778G>T | gnomAD v4 |
| X | g.153725629C>A | CA415098699 | ABCD1 | c.363C>A (p.Cys121Ter) n.779C>A | |
| X | g.153725629C>G | CA415098700 | ABCD1 | c.363C>G (p.Cys121Trp) n.779C>G | |
| X | g.153725629C>T | CA519345474 | ABCD1 | c.363C>T (p.Cys121=) n.779C>T | |
| X | g.153725630A>C | CA415098703 | ABCD1 | c.364A>C (p.Ile122Leu) n.780A>C | |
| X | g.153725630A>G | CA415098702 | ABCD1 | c.364A>G (p.Ile122Val) n.780A>G | gnomAD v4 |
| X | g.153725630A>T | CA415098701 | ABCD1 | c.364A>T (p.Ile122Phe) n.780A>T | |
| X | g.153725631T>A | CA415098704 | ABCD1 | c.365T>A (p.Ile122Asn) n.781T>A | |
| X | g.153725631T>C | CA415098705 | ABCD1 | c.365T>C (p.Ile122Thr) n.781T>C | |
| X | g.153725631T>G | CA415098706 | ABCD1 | c.365T>G (p.Ile122Ser) n.781T>G | |
| X | g.153725632C>A | CA519345479 | ABCD1 | c.366C>A (p.Ile122=) n.782C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.153725632C= | CA2466450994 | ABCD1 | c.366C= (p.Ile122=) n.782C= | |
| X | g.153725632C>G | CA415098707 | ABCD1 | c.366C>G (p.Ile122Met) n.782C>G | gnomAD v4 |
| X | g.153725632C>T | CA519345478 | ABCD1 | c.366C>T (p.Ile122=) n.782C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.153725633G>A | CA337233827 | ABCD1 | c.367G>A (p.Val123Ile) n.783G>A | ClinVar dbSNP COSMIC |
| X | g.153725633G>C | CA415098708 | ABCD1 | c.367G>C (p.Val123Leu) n.783G>C | |
| X | g.153725633G= | CA2466450995 | ABCD1 | c.367G= (p.Val123=) n.783G= | |
| X | g.153725633G>T | CA415098709 | ABCD1 | c.367G>T (p.Val123Phe) n.783G>T | |
| X | g.153725634T>A | CA415098710 | ABCD1 | c.368T>A (p.Val123Asp) n.784T>A | |
| X | g.153725634T>C | CA415098711 | ABCD1 | c.368T>C (p.Val123Ala) n.784T>C | |
| X | g.153725634T>G | CA415098712 | ABCD1 | c.368T>G (p.Val123Gly) n.784T>G | |
| X | g.153725635C>A | CA519345483 | ABCD1 | c.369C>A (p.Val123=) n.785C>A | gnomAD v4 |
| X | g.153725635C>G | CA519345484 | ABCD1 | c.369C>G (p.Val123=) n.785C>G | |
| X | g.153725635C>T | CA519345485 | ABCD1 | c.369C>T (p.Val123=) n.785C>T | |
| X | g.153725636C>A | CA415098713 | ABCD1 | c.370C>A (p.Arg124Ser) n.786C>A | |
| X | g.153725636C= | CA2466450996 | ABCD1 | c.370C= (p.Arg124=) n.786C= | |
| X | g.153725636C>G | CA415098714 | ABCD1 | c.370C>G (p.Arg124Gly) n.786C>G | gnomAD v4 |
| X | g.153725636C>T | CA10549942 | ABCD1 | c.370C>T (p.Arg124Cys) n.786C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153725637G>A | CA415098715 | ABCD1 | c.371G>A (p.Arg124His) n.787G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153725637G>C | CA415098717 | ABCD1 | c.371G>C (p.Arg124Pro) n.787G>C | |
| X | g.153725637G= | CA2466450997 | ABCD1 | c.371G= (p.Arg124=) n.787G= | |
| X | g.153725637G>T | CA415098716 | ABCD1 | c.371G>T (p.Arg124Leu) n.787G>T | ClinVar dbSNP |
| X | g.153725638C>A | CA519345487 | ABCD1 | c.372C>A (p.Arg124=) n.788C>A | |
| X | g.153725638C>G | CA519345488 | ABCD1 | c.372C>G (p.Arg124=) n.788C>G | ClinVar dbSNP |
| X | g.153725638C>T | CA519345489 | ABCD1 | c.372C>T (p.Arg124=) n.788C>T | |
| X | g.153725639A>C | CA415098718 | ABCD1 | c.373A>C (p.Lys125Gln) n.789A>C | |
| X | g.153725639A>G | CA415098719 | ABCD1 | c.373A>G (p.Lys125Glu) n.789A>G | |
| X | g.153725639A>T | CA415098720 | ABCD1 | c.373A>T (p.Lys125Ter) n.789A>T | |
| X | g.153725640A>C | CA415098721 | ABCD1 | c.374A>C (p.Lys125Thr) n.790A>C | |
| X | g.153725640A>G | CA415098722 | ABCD1 | c.374A>G (p.Lys125Arg) n.790A>G | |
| X | g.153725640A>T | CA415098723 | ABCD1 | c.374A>T (p.Lys125Met) n.790A>T | |
| X | g.153725641G>A | CA519345495 | ABCD1 | c.375G>A (p.Lys125=) n.791G>A | |
| X | g.153725641G>C | CA415098724 | ABCD1 | c.375G>C (p.Lys125Asn) n.791G>C | gnomAD v4 |
| X | g.153725641G>T | CA415098725 | ABCD1 | c.375G>T (p.Lys125Asn) n.791G>T | gnomAD v4 |
| X | g.153725641_153725644del | CA2695237369 | ABCD1 | c.375_378del (p.Lys125AsnfsTer?) n.791_794del | |
| X | g.153725642G>A | CA415098726 | ABCD1 | c.376G>A (p.Asp126Asn) n.792G>A | |
| X | g.153725642G>C | CA415098727 | ABCD1 | c.376G>C (p.Asp126His) n.792G>C | |
| X | g.153725642G>T | CA415098728 | ABCD1 | c.376G>T (p.Asp126Tyr) n.792G>T | |
| X | g.153725643A>C | CA415098730 | ABCD1 | c.377A>C (p.Asp126Ala) n.793A>C | |
| X | g.153725643A>G | CA415098731 | ABCD1 | c.377A>G (p.Asp126Gly) n.793A>G | |
| X | g.153725643A>T | CA415098729 | ABCD1 | c.377A>T (p.Asp126Val) n.793A>T | |
| X | g.153725644C>A | CA415098733 | ABCD1 | c.378C>A (p.Asp126Glu) n.794C>A | |
| X | g.153725644C= | CA2466450998 | ABCD1 | c.378C= (p.Asp126=) n.794C= | |
| X | g.153725644C>G | CA415098732 | ABCD1 | c.378C>G (p.Asp126Glu) n.794C>G | |
| X | g.153725644C>T | CA519345505 | ABCD1 | c.378C>T (p.Asp126=) n.794C>T | ClinVar dbSNP |
| X | g.153725645C>A | CA415098735 | ABCD1 | c.379C>A (p.Pro127Thr) n.795C>A | |
| X | g.153725645C>G | CA415098734 | ABCD1 | c.379C>G (p.Pro127Ala) n.795C>G | |
| X | g.153725645C>T | CA415098736 | ABCD1 | c.379C>T (p.Pro127Ser) n.795C>T | COSMIC |
| X | g.153725646C>A | CA415098737 | ABCD1 | c.380C>A (p.Pro127Gln) n.796C>A | |
| X | g.153725646C= | CA2466450999 | ABCD1 | c.380C= (p.Pro127=) n.796C= | |
| X | g.153725646C>G | CA415098738 | ABCD1 | c.380C>G (p.Pro127Arg) n.796C>G | gnomAD v4 |
| X | g.153725646C>T | CA415098739 | ABCD1 | c.380C>T (p.Pro127Leu) n.796C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.153725647G>A | CA10549943 | ABCD1 | c.381G>A (p.Pro127=) n.797G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153725647G>C | CA519345490 | ABCD1 | c.381G>C (p.Pro127=) n.797G>C | |
| X | g.153725647G= | CA2466451000 | ABCD1 | c.381G= (p.Pro127=) n.797G= | |
| X | g.153725647G>T | CA10549944 | ABCD1 | c.381G>T (p.Pro127=) n.797G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153725648C>A | CA519345491 | ABCD1 | c.382C>A (p.Arg128=) n.798C>A | |
| X | g.153725648C= | CA2466451001 | ABCD1 | c.382C= (p.Arg128=) n.798C= | |
| X | g.153725648C>G | CA415098740 | ABCD1 | c.382C>G (p.Arg128Gly) n.798C>G | |
| X | g.153725648C>T | CA10549945 | ABCD1 | c.382C>T (p.Arg128Trp) n.798C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153725649G>A | CA10549947 | ABCD1 | c.383G>A (p.Arg128Gln) n.799G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153725649G>C | CA10549946 | ABCD1 | c.383G>C (p.Arg128Pro) n.799G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153725649G= | CA2466451002 | ABCD1 | c.383G= (p.Arg128=) n.799G= | |
| X | g.153725649G>T | CA415098741 | ABCD1 | c.383G>T (p.Arg128Leu) n.799G>T | |
| X | g.153725651dup | CA2695237370 | ABCD1 | c.385dup (p.Ala129GlyfsTer?) n.801dup | |
| X | g.153725650G>A | CA519345496 | ABCD1 | c.384G>A (p.Arg128=) n.800G>A | |
| X | g.153725650G>C | CA519345498 | ABCD1 | c.384G>C (p.Arg128=) n.800G>C | |
| X | g.153725650G>T | CA519345497 | ABCD1 | c.384G>T (p.Arg128=) n.800G>T | |
| X | g.153725651G>A | CA415098744 | ABCD1 | c.385G>A (p.Ala129Thr) n.801G>A | |
| X | g.153725651G>C | CA415098743 | ABCD1 | c.385G>C (p.Ala129Pro) n.801G>C | gnomAD v4 |
| X | g.153725651G>T | CA415098742 | ABCD1 | c.385G>T (p.Ala129Ser) n.801G>T | |
| X | g.153725652C>A | CA10549948 | ABCD1 | c.386C>A (p.Ala129Asp) n.802C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153725652C= | CA2466451003 | ABCD1 | c.386C= (p.Ala129=) n.802C= | |
| X | g.153725652C>G | CA415098745 | ABCD1 | c.386C>G (p.Ala129Gly) n.802C>G | |
| X | g.153725652C>T | CA415098746 | ABCD1 | c.386C>T (p.Ala129Val) n.802C>T | gnomAD v4 |
| X | g.153725653T>A | CA519345502 | ABCD1 | c.387T>A (p.Ala129=) n.803T>A | |
| X | g.153725653T>C | CA519345503 | ABCD1 | c.387T>C (p.Ala129=) n.803T>C | |
| X | g.153725653T>G | CA519345504 | ABCD1 | c.387T>G (p.Ala129=) n.803T>G | |
| X | g.153725656dup | CA2695237372 | ABCD1 | c.390dup (p.Gly131TrpfsTer?) n.806dup | |
| X | g.153725656del | CA2695045680 | ABCD1 | c.390del (p.Phe130LeufsTer?) n.806del | gnomAD v4 |
| X | g.153725654T>A | CA415098747 | ABCD1 | c.388T>A (p.Phe130Ile) n.804T>A | |
| X | g.153725654T>C | CA415098748 | ABCD1 | c.388T>C (p.Phe130Leu) n.804T>C | |
| X | g.153725654T>G | CA415098749 | ABCD1 | c.388T>G (p.Phe130Val) n.804T>G | |
| X | g.153725655T>A | CA415098750 | ABCD1 | c.389T>A (p.Phe130Tyr) n.805T>A | |
| X | g.153725655T>C | CA415098751 | ABCD1 | c.389T>C (p.Phe130Ser) n.805T>C | |
| X | g.153725655T>G | CA415098752 | ABCD1 | c.389T>G (p.Phe130Cys) n.805T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153725655T= | CA2466451004 | ABCD1 | c.389T= (p.Phe130=) n.805T= | |
| X | g.153725656T>A | CA415098753 | ABCD1 | c.390T>A (p.Phe130Leu) n.806T>A | |
| X | g.153725656T>C | CA519345509 | ABCD1 | c.390T>C (p.Phe130=) n.806T>C | ClinVar dbSNP |
| X | g.153725656T>G | CA415098754 | ABCD1 | c.390T>G (p.Phe130Leu) n.806T>G | |
| X | g.153725657G>A | CA415098757 | ABCD1 | c.391G>A (p.Gly131Ser) n.807G>A | |
| X | g.153725657G>C | CA415098756 | ABCD1 | c.391G>C (p.Gly131Arg) n.807G>C | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153725657G= | CA2466451005 | ABCD1 | c.391G= (p.Gly131=) n.807G= | |
| X | g.153725657G>T | CA415098755 | ABCD1 | c.391G>T (p.Gly131Cys) n.807G>T | |
| X | g.153725658G>A | CA415098758 | ABCD1 | c.392G>A (p.Gly131Asp) n.808G>A | |
| X | g.153725658G>C | CA415098759 | ABCD1 | c.392G>C (p.Gly131Ala) n.808G>C | |
| X | g.153725658G= | CA2466451006 | ABCD1 | c.392G= (p.Gly131=) n.808G= | |
| X | g.153725658G>T | CA10549949 | ABCD1 | c.392G>T (p.Gly131Val) n.808G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153725659C>A | CA519345512 | ABCD1 | c.393C>A (p.Gly131=) n.809C>A | |
| X | g.153725659C>G | CA519345510 | ABCD1 | c.393C>G (p.Gly131=) n.809C>G | |
| X | g.153725659C>T | CA519345511 | ABCD1 | c.393C>T (p.Gly131=) n.809C>T | gnomAD v4 |
| X | g.153725660T>A | CA415098760 | ABCD1 | c.394T>A (p.Trp132Arg) n.810T>A | |
| X | g.153725660T>C | CA415098761 | ABCD1 | c.394T>C (p.Trp132Arg) n.810T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.153725660T>G | CA415098762 | ABCD1 | c.394T>G (p.Trp132Gly) n.810T>G | |
| X | g.153725660T= | CA2466451007 | ABCD1 | c.394T= (p.Trp132=) n.810T= | |
| X | g.153725661G>A | CA337233866 | ABCD1 | c.395G>A (p.Trp132Ter) n.811G>A | dbSNP |
| X | g.153725661G>C | CA415098763 | ABCD1 | c.395G>C (p.Trp132Ser) n.811G>C | |
| X | g.153725661G= | CA2466451008 | ABCD1 | c.395G= (p.Trp132=) n.811G= | |
| X | g.153725661G>T | CA415098764 | ABCD1 | c.395G>T (p.Trp132Leu) n.811G>T | |
| X | g.153725662del | CA645610970 | ABCD1 | c.396del (p.Trp132CysfsTer?) n.812del | COSMIC |
| X | g.153725662G>A | CA415098765 | ABCD1 | c.396G>A (p.Trp132Ter) n.812G>A | gnomAD v4 |
| X | g.153725662G>C | CA415098766 | ABCD1 | c.396G>C (p.Trp132Cys) n.812G>C | |
| X | g.153725662G>T | CA415098767 | ABCD1 | c.396G>T (p.Trp132Cys) n.812G>T | |
| X | g.153725663C>A | CA415098768 | ABCD1 | c.397C>A (p.Gln133Lys) n.813C>A | |
| X | g.153725663C>G | CA415098770 | ABCD1 | c.397C>G (p.Gln133Glu) n.813C>G | |
| X | g.153725663C>T | CA415098769 | ABCD1 | c.397C>T (p.Gln133Ter) n.813C>T | ClinVar |
| X | g.153725664A>C | CA415098771 | ABCD1 | c.398A>C (p.Gln133Pro) n.814A>C | |
| X | g.153725664A>G | CA415098772 | ABCD1 | c.398A>G (p.Gln133Arg) n.814A>G | |
| X | g.153725664A>T | CA415098773 | ABCD1 | c.398A>T (p.Gln133Leu) n.814A>T | |
| X | g.153725665G>A | CA519345519 | ABCD1 | c.399G>A (p.Gln133=) n.815G>A | |
| X | g.153725665G>C | CA415098774 | ABCD1 | c.399G>C (p.Gln133His) n.815G>C | |
| X | g.153725665G>T | CA415098775 | ABCD1 | c.399G>T (p.Gln133His) n.815G>T | |
| X | g.153725666C>A | CA415098776 | ABCD1 | c.400C>A (p.Leu134Met) n.816C>A | |
| X | g.153725666C>G | CA415098777 | ABCD1 | c.400C>G (p.Leu134Val) n.816C>G | |
| X | g.153725666C>T | CA519345520 | ABCD1 | c.400C>T (p.Leu134=) n.816C>T | |
| X | g.153725667T>A | CA415098778 | ABCD1 | c.401T>A (p.Leu134Gln) n.817T>A | |
| X | g.153725667T>C | CA415098779 | ABCD1 | c.401T>C (p.Leu134Pro) n.817T>C | |
| X | g.153725667T>G | CA415098780 | ABCD1 | c.401T>G (p.Leu134Arg) n.817T>G | |
| X | g.153725667_153725671delinsAGCATT | CA2695237374 | ABCD1 | c.401_405delinsAGCATT (p.Leu134GlnfsTer?) n.817_821delinsAGCATT | |
| X | g.153725668G>A | CA519345521 | ABCD1 | c.402G>A (p.Leu134=) n.818G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.153725668G>C | CA519345522 | ABCD1 | c.402G>C (p.Leu134=) n.818G>C | |
| X | g.153725668G= | CA2466451009 | ABCD1 | c.402G= (p.Leu134=) n.818G= | |
| X | g.153725668G>T | CA519345524 | ABCD1 | c.402G>T (p.Leu134=) n.818G>T | |
| X | g.153725669C>A | CA415098781 | ABCD1 | c.403C>A (p.Leu135Met) n.819C>A | |
| X | g.153725669C= | CA2466451010 | ABCD1 | c.403C= (p.Leu135=) n.819C= | |
| X | g.153725669C>G | CA415098782 | ABCD1 | c.403C>G (p.Leu135Val) n.819C>G | |
| X | g.153725669C>T | CA519345526 | ABCD1 | c.403C>T (p.Leu135=) n.819C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.153725670T>A | CA415098783 | ABCD1 | c.404T>A (p.Leu135Gln) n.820T>A | |
| X | g.153725670T>C | CA415098784 | ABCD1 | c.404T>C (p.Leu135Pro) n.820T>C | |
| X | g.153725670T>G | CA415098785 | ABCD1 | c.404T>G (p.Leu135Arg) n.820T>G | |
| X | g.153725671G>A | CA519345527 | ABCD1 | c.405G>A (p.Leu135=) n.821G>A | |
| X | g.153725671G>C | CA519345528 | ABCD1 | c.405G>C (p.Leu135=) n.821G>C | |
| X | g.153725671G>T | CA519345529 | ABCD1 | c.405G>T (p.Leu135=) n.821G>T | |
| X | g.153725672C>A | CA415098786 | ABCD1 | c.406C>A (p.Gln136Lys) n.822C>A | |
| X | g.153725672C= | CA2466451011 | ABCD1 | c.406C= (p.Gln136=) n.822C= | |
| X | g.153725672C>G | CA415098787 | ABCD1 | c.406C>G (p.Gln136Glu) n.822C>G | |
| X | g.153725672C>T | CA278415 | ABCD1 | c.406C>T (p.Gln136Ter) n.822C>T | ClinVar dbSNP |
| X | g.153725673A= | CA2466451012 | ABCD1 | c.407A= (p.Gln136=) n.823A= | |
| X | g.153725673A>C | CA415098790 | ABCD1 | c.407A>C (p.Gln136Pro) n.823A>C | |
| X | g.153725673A>G | CA415098788 | ABCD1 | c.407A>G (p.Gln136Arg) n.823A>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153725673A>T | CA415098789 | ABCD1 | c.407A>T (p.Gln136Leu) n.823A>T | |
| X | g.153725673_153725674delinsAG | CA2466451013 | ABCD1 | c.407_408delinsAG (p.Gln136=) n.823_824delinsAG | |
| X | g.153725674del | CA915952071 | ABCD1 | c.408del (p.Gln136HisfsTer?) n.824del | ClinVar dbSNP |
| X | g.153725674G>A | CA519345534 | ABCD1 | c.408G>A (p.Gln136=) n.824G>A | ClinVar |
| X | g.153725674G>C | CA415098791 | ABCD1 | c.408G>C (p.Gln136His) n.824G>C | |
| X | g.153725674G>T | CA415098792 | ABCD1 | c.408G>T (p.Gln136His) n.824G>T | |
| X | g.153725675T>A | CA415098793 | ABCD1 | c.409T>A (p.Trp137Arg) n.825T>A | |
| X | g.153725675T>C | CA415098794 | ABCD1 | c.409T>C (p.Trp137Arg) n.825T>C | |
| X | g.153725675T>G | CA415098795 | ABCD1 | c.409T>G (p.Trp137Gly) n.825T>G | |
| X | g.153725676G>A | CA415098796 | ABCD1 | c.410G>A (p.Trp137Ter) n.826G>A | |
| X | g.153725676G>C | CA415098798 | ABCD1 | c.410G>C (p.Trp137Ser) n.826G>C | |
| X | g.153725676G>T | CA415098797 | ABCD1 | c.410G>T (p.Trp137Leu) n.826G>T | |
| X | g.153725677G>A | CA415098799 | ABCD1 | c.411G>A (p.Trp137Ter) n.827G>A | ClinVar dbSNP |
| X | g.153725677G>C | CA415098800 | ABCD1 | c.411G>C (p.Trp137Cys) n.827G>C | |
| X | g.153725677G= | CA2466451015 | ABCD1 | c.411G= (p.Trp137=) n.827G= | |
| X | g.153725677G>T | CA415098801 | ABCD1 | c.411G>T (p.Trp137Cys) n.827G>T | |
| X | g.153725677_153725680delinsGCTC | CA2466451014 | ABCD1 | c.411_414delinsGCTC (p.Trp137=) n.827_830delinsGCTC | |
| X | g.153725678C>A | CA415098802 | ABCD1 | c.412C>A (p.Leu138Ile) n.828C>A | |
| X | g.153725678C>G | CA415098803 | ABCD1 | c.412C>G (p.Leu138Val) n.828C>G | gnomAD v4 |
| X | g.153725678C>T | CA415098804 | ABCD1 | c.412C>T (p.Leu138Phe) n.828C>T | |
| X | g.153725678dup | CA2695237378 | ABCD1 | c.412dup (p.Leu138ProfsTer?) n.828dup | |
| X | g.153725681_153725683del | CA658799881 | ABCD1 | c.415_417del (p.Leu139del) n.831_833del | ClinVar dbSNP |
| X | g.153725682_153725693del | CA2695237376 | ABCD1 | c.416_427del (p.Leu139_Leu142del) n.832_843del | |
| X | g.153725679T>A | CA415098805 | ABCD1 | c.413T>A (p.Leu138His) n.829T>A | |
| X | g.153725679T>C | CA415098806 | ABCD1 | c.413T>C (p.Leu138Pro) n.829T>C | |
| X | g.153725679T>G | CA415098807 | ABCD1 | c.413T>G (p.Leu138Arg) n.829T>G | |
| X | g.153725680C>A | CA519345541 | ABCD1 | c.414C>A (p.Leu138=) n.830C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.153725680C= | CA2466451016 | ABCD1 | c.414C= (p.Leu138=) n.830C= | |
| X | g.153725680C>G | CA519345540 | ABCD1 | c.414C>G (p.Leu138=) n.830C>G | |
| X | g.153725680C>T | CA10549950 | ABCD1 | c.414C>T (p.Leu138=) n.830C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153725681C>A | CA415098808 | ABCD1 | c.415C>A (p.Leu139Ile) n.831C>A | |
| X | g.153725681C>G | CA415098810 | ABCD1 | c.415C>G (p.Leu139Val) n.831C>G | |
| X | g.153725681C>T | CA415098809 | ABCD1 | c.415C>T (p.Leu139Phe) n.831C>T | |
| X | g.153725682T>A | CA415098811 | ABCD1 | c.416T>A (p.Leu139His) n.832T>A | |
| X | g.153725682T>C | CA415098812 | ABCD1 | c.416T>C (p.Leu139Pro) n.832T>C | gnomAD v4 |
| X | g.153725682T>G | CA415098813 | ABCD1 | c.416T>G (p.Leu139Arg) n.832T>G | |
| X | g.153725683C>A | CA519345542 | ABCD1 | c.417C>A (p.Leu139=) n.833C>A | |
| X | g.153725683C>G | CA519345543 | ABCD1 | c.417C>G (p.Leu139=) n.833C>G | |
| X | g.153725683C>T | CA519345544 | ABCD1 | c.417C>T (p.Leu139=) n.833C>T | |
| X | g.153725684del | CA2579729916 | ABCD1 | c.418del (p.Ile140SerfsTer?) n.834del | |
| X | g.153725684A>C | CA415098814 | ABCD1 | c.418A>C (p.Ile140Leu) n.834A>C | |
| X | g.153725684A>G | CA415098815 | ABCD1 | c.418A>G (p.Ile140Val) n.834A>G | gnomAD v4 |
| X | g.153725684A>T | CA415098816 | ABCD1 | c.418A>T (p.Ile140Phe) n.834A>T | |
| X | g.153725685T>A | CA415098817 | ABCD1 | c.419T>A (p.Ile140Asn) n.835T>A | |
| X | g.153725685T>C | CA415098818 | ABCD1 | c.419T>C (p.Ile140Thr) n.835T>C | |
| X | g.153725685T>G | CA415098819 | ABCD1 | c.419T>G (p.Ile140Ser) n.835T>G | |
| X | g.153725686C>A | CA10549951 | ABCD1 | c.420C>A (p.Ile140=) n.836C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153725686C= | CA2466451017 | ABCD1 | c.420C= (p.Ile140=) n.836C= | |
| X | g.153725686C>G | CA415098820 | ABCD1 | c.420C>G (p.Ile140Met) n.836C>G | |
| X | g.153725686C>T | CA10549952 | ABCD1 | c.420C>T (p.Ile140=) n.836C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153725687G>A | CA278381 | ABCD1 | c.421G>A (p.Ala141Thr) n.837G>A | ClinVar dbSNP COSMIC |
| X | g.153725687G>C | CA415098822 | ABCD1 | c.421G>C (p.Ala141Pro) n.837G>C | |
| X | g.153725687G= | CA2466451018 | ABCD1 | c.421G= (p.Ala141=) n.837G= | |
| X | g.153725687G>T | CA415098821 | ABCD1 | c.421G>T (p.Ala141Ser) n.837G>T | dbSNP |
| X | g.153725689_153725697dup | CA2695237380 | ABCD1 | c.423_431dup (p.Ala144_Thr145insLeuProAla) n.839_847dup | |
| X | g.153725688C>A | CA415098823 | ABCD1 | c.422C>A (p.Ala141Asp) n.838C>A | gnomAD v4 |
| X | g.153725688C= | CA2466451019 | ABCD1 | c.422C= (p.Ala141=) n.838C= | |
| X | g.153725688C>G | CA415098824 | ABCD1 | c.422C>G (p.Ala141Gly) n.838C>G | gnomAD v4 |
| X | g.153725688C>T | CA415098825 | ABCD1 | c.422C>T (p.Ala141Val) n.838C>T | ClinVar dbSNP |
| X | g.153725690del | CA2695237382 | ABCD1 | c.424del (p.Leu142SerfsTer?) n.840del | |
| X | g.153725689C>A | CA519345548 | ABCD1 | c.423C>A (p.Ala141=) n.839C>A | |
| X | g.153725689C= | CA2466451020 | ABCD1 | c.423C= (p.Ala141=) n.839C= | |
| X | g.153725689C>G | CA519345549 | ABCD1 | c.423C>G (p.Ala141=) n.839C>G | |
| X | g.153725689C>T | CA519345550 | ABCD1 | c.423C>T (p.Ala141=) n.839C>T | ClinVar dbSNP gnomAD v4 |
| X | g.153725690C>A | CA415098826 | ABCD1 | c.424C>A (p.Leu142Ile) n.840C>A | |
| X | g.153725690C= | CA2466451021 | ABCD1 | c.424C= (p.Leu142=) n.840C= | |
| X | g.153725690C>G | CA415098827 | ABCD1 | c.424C>G (p.Leu142Val) n.840C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153725690C>T | CA415098828 | ABCD1 | c.424C>T (p.Leu142Phe) n.840C>T | |
| X | g.153725691_153725692del | CA2573055135 | ABCD1 | c.425_426del (p.Leu142ProfsTer?) n.841_842del | ClinVar dbSNP |
| X | g.153725691T>A | CA415098829 | ABCD1 | c.425T>A (p.Leu142His) n.841T>A | |
| X | g.153725691T>C | CA415098830 | ABCD1 | c.425T>C (p.Leu142Pro) n.841T>C | |
| X | g.153725691T>G | CA415098831 | ABCD1 | c.425T>G (p.Leu142Arg) n.841T>G | |
| X | g.153725692C>A | CA519345553 | ABCD1 | c.426C>A (p.Leu142=) n.842C>A | |
| X | g.153725692C= | CA2466451022 | ABCD1 | c.426C= (p.Leu142=) n.842C= | |
| X | g.153725692C>G | CA519345554 | ABCD1 | c.426C>G (p.Leu142=) n.842C>G | |
| X | g.153725692C>T | CA10549953 | ABCD1 | c.426C>T (p.Leu142=) n.842C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.153725693C>A | CA415098833 | ABCD1 | c.427C>A (p.Pro143Thr) n.843C>A | |
| X | g.153725693C>G | CA415098834 | ABCD1 | c.427C>G (p.Pro143Ala) n.843C>G | |
| X | g.153725693C>T | CA415098832 | ABCD1 | c.427C>T (p.Pro143Ser) n.843C>T | |
| X | g.153725694C>A | CA415098836 | ABCD1 | c.428C>A (p.Pro143His) n.844C>A | |
| X | g.153725694C>G | CA415098835 | ABCD1 | c.428C>G (p.Pro143Arg) n.844C>G | |
| X | g.153725694C>T | CA415098837 | ABCD1 | c.428C>T (p.Pro143Leu) n.844C>T | ClinVar |
| X | g.153725695T>A | CA519345555 | ABCD1 | c.429T>A (p.Pro143=) n.845T>A | |
| X | g.153725695T>C | CA519345556 | ABCD1 | c.429T>C (p.Pro143=) n.845T>C | |
| X | g.153725695T>G | CA519345557 | ABCD1 | c.429T>G (p.Pro143=) n.845T>G | |
| X | g.153725696G>A | CA415098838 | ABCD1 | c.430G>A (p.Ala144Thr) n.846G>A | ClinVar |
| X | g.153725696G>C | CA415098839 | ABCD1 | c.430G>C (p.Ala144Pro) n.846G>C | |
| X | g.153725696G>T | CA415098840 | ABCD1 | c.430G>T (p.Ala144Ser) n.846G>T | |
| X | g.153725697C>A | CA415098841 | ABCD1 | c.431C>A (p.Ala144Asp) n.847C>A | |
| X | g.153725697C>G | CA415098842 | ABCD1 | c.431C>G (p.Ala144Gly) n.847C>G | |
| X | g.153725697C>T | CA415098843 | ABCD1 | c.431C>T (p.Ala144Val) n.847C>T | ClinVar |
| X | g.153725698T>A | CA519345560 | ABCD1 | c.432T>A (p.Ala144=) n.848T>A | |
| X | g.153725698T>C | CA519345561 | ABCD1 | c.432T>C (p.Ala144=) n.848T>C | |
| X | g.153725698T>G | CA519345562 | ABCD1 | c.432T>G (p.Ala144=) n.848T>G | |
| X | g.153725698_153725712delinsCCC | CA2695237387 | ABCD1 | c.432_446delinsCCC (p.Thr145_Ser149delinsPro) n.848_862delinsCCC | |
| X | g.153725699A= | CA2466451023 | ABCD1 | c.433A= (p.Thr145=) n.849A= | |
| X | g.153725699A>C | CA415098844 | ABCD1 | c.433A>C (p.Thr145Pro) n.849A>C | |
| X | g.153725699A>G | CA415098845 | ABCD1 | c.433A>G (p.Thr145Ala) n.849A>G | ClinVar dbSNP |
| X | g.153725699A>T | CA415098846 | ABCD1 | c.433A>T (p.Thr145Ser) n.849A>T |