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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.185143385G>A | CA358895671 | SLC25A4 | c.13G>A (p.Ala5Thr) | gnomAD v4 |
| 4 | g.185143385G>C | CA358895673 | SLC25A4 | c.13G>C (p.Ala5Pro) | |
| 4 | g.185143385G>T | CA358895672 | SLC25A4 | c.13G>T (p.Ala5Ser) | gnomAD v4 |
| 4 | g.185143386C>A | CA358895674 | SLC25A4 | c.14C>A (p.Ala5Asp) | gnomAD v4 |
| 4 | g.185143386C= | CA1519345525 | SLC25A4 | c.14C= (p.Ala5=) | |
| 4 | g.185143386C>G | CA358895675 | SLC25A4 | c.14C>G (p.Ala5Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.185143386C>T | CA358895676 | SLC25A4 | c.14C>T (p.Ala5Val) | |
| 4 | g.185143387T>A | CA442614625 | SLC25A4 | c.15T>A (p.Ala5=) | gnomAD v4 |
| 4 | g.185143387T>C | CA442614626 | SLC25A4 | c.15T>C (p.Ala5=) | dbSNP gnomAD v4 |
| 4 | g.185143387T>G | CA442614627 | SLC25A4 | c.15T>G (p.Ala5=) | gnomAD v4 |
| 4 | g.185143388T>A | CA358895677 | SLC25A4 | c.16T>A (p.Trp6Arg) | |
| 4 | g.185143388T>C | CA358895678 | SLC25A4 | c.16T>C (p.Trp6Arg) | gnomAD v4 |
| 4 | g.185143388T>G | CA358895679 | SLC25A4 | c.16T>G (p.Trp6Gly) | |
| 4 | g.185143389G>A | CA358895680 | SLC25A4 | c.17G>A (p.Trp6Ter) | |
| 4 | g.185143389G>C | CA358895681 | SLC25A4 | c.17G>C (p.Trp6Ser) | |
| 4 | g.185143389G= | CA1519345530 | SLC25A4 | c.17G= (p.Trp6=) | |
| 4 | g.185143389G>T | CA358895682 | SLC25A4 | c.17G>T (p.Trp6Leu) | dbSNP gnomAD v4 |
| 4 | g.185143390G>A | CA358895683 | SLC25A4 | c.18G>A (p.Trp6Ter) | gnomAD v4 |
| 4 | g.185143390G>C | CA358895684 | SLC25A4 | c.18G>C (p.Trp6Cys) | |
| 4 | g.185143390G= | CA1519345532 | SLC25A4 | c.18G= (p.Trp6=) | |
| 4 | g.185143390G>T | CA358895685 | SLC25A4 | c.18G>T (p.Trp6Cys) | ClinVar dbSNP gnomAD v4 |
| 4 | g.185143391A>C | CA358895688 | SLC25A4 | c.19A>C (p.Ser7Arg) | |
| 4 | g.185143391A>G | CA358895686 | SLC25A4 | c.19A>G (p.Ser7Gly) | gnomAD v4 |
| 4 | g.185143391A>T | CA358895687 | SLC25A4 | c.19A>T (p.Ser7Cys) | |
| 4 | g.185143392G>A | CA358895689 | SLC25A4 | c.20G>A (p.Ser7Asn) | gnomAD v4 |
| 4 | g.185143392G>C | CA358895690 | SLC25A4 | c.20G>C (p.Ser7Thr) | |
| 4 | g.185143392G>T | CA358895691 | SLC25A4 | c.20G>T (p.Ser7Ile) | |
| 4 | g.185143393C>A | CA358895692 | SLC25A4 | c.21C>A (p.Ser7Arg) | gnomAD v4 |
| 4 | g.185143393C= | CA1519345534 | SLC25A4 | c.21C= (p.Ser7=) | |
| 4 | g.185143393C>G | CA358895693 | SLC25A4 | c.21C>G (p.Ser7Arg) | |
| 4 | g.185143393C>T | CA3156408 | SLC25A4 | c.21C>T (p.Ser7=) | dbSNP ExAC gnomAD v4 |
| 4 | g.185143394T>A | CA358895694 | SLC25A4 | c.22T>A (p.Phe8Ile) | |
| 4 | g.185143394T>C | CA358895695 | SLC25A4 | c.22T>C (p.Phe8Leu) | |
| 4 | g.185143394T>G | CA358895696 | SLC25A4 | c.22T>G (p.Phe8Val) | |
| 4 | g.185143395T>A | CA358895697 | SLC25A4 | c.23T>A (p.Phe8Tyr) | |
| 4 | g.185143395T>C | CA358895698 | SLC25A4 | c.23T>C (p.Phe8Ser) | gnomAD v4 |
| 4 | g.185143395T>G | CA358895699 | SLC25A4 | c.23T>G (p.Phe8Cys) | |
| 4 | g.185143396C>A | CA358895700 | SLC25A4 | c.24C>A (p.Phe8Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.185143396C= | CA1519345538 | SLC25A4 | c.24C= (p.Phe8=) | |
| 4 | g.185143396C>G | CA358895701 | SLC25A4 | c.24C>G (p.Phe8Leu) | |
| 4 | g.185143396C>T | CA442614629 | SLC25A4 | c.24C>T (p.Phe8=) | |
| 4 | g.185143397C>A | CA358895702 | SLC25A4 | c.25C>A (p.Leu9Ile) | |
| 4 | g.185143397C>G | CA358895703 | SLC25A4 | c.25C>G (p.Leu9Val) | gnomAD v4 |
| 4 | g.185143397C>T | CA442614630 | SLC25A4 | c.25C>T (p.Leu9=) | dbSNP |
| 4 | g.185143398T>A | CA358895704 | SLC25A4 | c.26T>A (p.Leu9Gln) | |
| 4 | g.185143398T>C | CA358895705 | SLC25A4 | c.26T>C (p.Leu9Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.185143398T>G | CA358895706 | SLC25A4 | c.26T>G (p.Leu9Arg) | |
| 4 | g.185143398T= | CA1519345541 | SLC25A4 | c.26T= (p.Leu9=) | |
| 4 | g.185143399A= | CA1519345543 | SLC25A4 | c.27A= (p.Leu9=) | |
| 4 | g.185143399A>C | CA442614631 | SLC25A4 | c.27A>C (p.Leu9=) | |
| 4 | g.185143399A>G | CA442614632 | SLC25A4 | c.27A>G (p.Leu9=) | ClinVar gnomAD v4 |
| 4 | g.185143399A>T | CA442614633 | SLC25A4 | c.27A>T (p.Leu9=) | dbSNP |
| 4 | g.185143401del | CA2578244231 | SLC25A4 | c.29del (p.Lys10ArgfsTer?) | gnomAD v4 |
| 4 | g.185143400A= | CA1519345545 | SLC25A4 | c.28A= (p.Lys10=) | |
| 4 | g.185143400A>C | CA358895707 | SLC25A4 | c.28A>C (p.Lys10Gln) | gnomAD v4 |
| 4 | g.185143400A>G | CA358895708 | SLC25A4 | c.28A>G (p.Lys10Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.185143400A>T | CA358895709 | SLC25A4 | c.28A>T (p.Lys10Ter) | dbSNP |
| 4 | g.185143401A>C | CA358895710 | SLC25A4 | c.29A>C (p.Lys10Thr) | |
| 4 | g.185143401A>G | CA358895711 | SLC25A4 | c.29A>G (p.Lys10Arg) | gnomAD v4 |
| 4 | g.185143401A>T | CA358895712 | SLC25A4 | c.29A>T (p.Lys10Met) | |
| 4 | g.185143402G>A | CA442614634 | SLC25A4 | c.30G>A (p.Lys10=) | |
| 4 | g.185143402G>C | CA358895713 | SLC25A4 | c.30G>C (p.Lys10Asn) | |
| 4 | g.185143402G>T | CA358895714 | SLC25A4 | c.30G>T (p.Lys10Asn) | gnomAD v4 |
| 4 | g.185143403G>A | CA358895717 | SLC25A4 | c.31G>A (p.Asp11Asn) | |
| 4 | g.185143403G>C | CA358895715 | SLC25A4 | c.31G>C (p.Asp11His) | |
| 4 | g.185143403G>T | CA358895716 | SLC25A4 | c.31G>T (p.Asp11Tyr) | gnomAD v4 |
| 4 | g.185143404A>C | CA358895718 | SLC25A4 | c.32A>C (p.Asp11Ala) | |
| 4 | g.185143404A>G | CA358895719 | SLC25A4 | c.32A>G (p.Asp11Gly) | gnomAD v4 |
| 4 | g.185143404A>T | CA358895720 | SLC25A4 | c.32A>T (p.Asp11Val) | gnomAD v4 |
| 4 | g.185143405C>A | CA358895721 | SLC25A4 | c.33C>A (p.Asp11Glu) | gnomAD v4 |
| 4 | g.185143405C>G | CA358895722 | SLC25A4 | c.33C>G (p.Asp11Glu) | gnomAD v4 |
| 4 | g.185143405C>T | CA442614643 | SLC25A4 | c.33C>T (p.Asp11=) | |
| 4 | g.185143406T>A | CA358895723 | SLC25A4 | c.34T>A (p.Phe12Ile) | |
| 4 | g.185143406T>C | CA358895724 | SLC25A4 | c.34T>C (p.Phe12Leu) | gnomAD v4 |
| 4 | g.185143406T>G | CA358895725 | SLC25A4 | c.34T>G (p.Phe12Val) | |
| 4 | g.185143407T>A | CA358895726 | SLC25A4 | c.35T>A (p.Phe12Tyr) | |
| 4 | g.185143407T>C | CA358895727 | SLC25A4 | c.35T>C (p.Phe12Ser) | gnomAD v4 |
| 4 | g.185143407T>G | CA358895728 | SLC25A4 | c.35T>G (p.Phe12Cys) | |
| 4 | g.185143408C>A | CA358895729 | SLC25A4 | c.36C>A (p.Phe12Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.185143408C= | CA1519345548 | SLC25A4 | c.36C= (p.Phe12=) | |
| 4 | g.185143408C>G | CA358895730 | SLC25A4 | c.36C>G (p.Phe12Leu) | gnomAD v4 |
| 4 | g.185143408C>T | CA442614657 | SLC25A4 | c.36C>T (p.Phe12=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.185143409del | CA2672840621 | SLC25A4 | c.37del (p.Leu13TrpfsTer?) | gnomAD v4 |
| 4 | g.185143409C>A | CA358895731 | SLC25A4 | c.37C>A (p.Leu13Met) | gnomAD v4 |
| 4 | g.185143409C>G | CA358895732 | SLC25A4 | c.37C>G (p.Leu13Val) | gnomAD v4 |
| 4 | g.185143409C>T | CA442614662 | SLC25A4 | c.37C>T (p.Leu13=) | dbSNP gnomAD v4 |
| 4 | g.185143410T>A | CA358895733 | SLC25A4 | c.38T>A (p.Leu13Gln) | gnomAD v4 |
| 4 | g.185143410T>C | CA358895735 | SLC25A4 | c.38T>C (p.Leu13Pro) | gnomAD v4 |
| 4 | g.185143410T>G | CA358895734 | SLC25A4 | c.38T>G (p.Leu13Arg) | |
| 4 | g.185143411G>A | CA442614670 | SLC25A4 | c.39G>A (p.Leu13=) | gnomAD v4 |
| 4 | g.185143411G>C | CA442614672 | SLC25A4 | c.39G>C (p.Leu13=) | |
| 4 | g.185143411G>T | CA442614674 | SLC25A4 | c.39G>T (p.Leu13=) | gnomAD v4 |
| 4 | g.185143412del | CA2672840622 | SLC25A4 | c.40del (p.Ala14ProfsTer?) | gnomAD v4 |
| 4 | g.185143412G>A | CA358895736 | SLC25A4 | c.40G>A (p.Ala14Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.185143412G>C | CA358895737 | SLC25A4 | c.40G>C (p.Ala14Pro) | dbSNP |
| 4 | g.185143412G= | CA1519345551 | SLC25A4 | c.40G= (p.Ala14=) | |
| 4 | g.185143412G>T | CA358895738 | SLC25A4 | c.40G>T (p.Ala14Ser) | gnomAD v4 |
| 4 | g.185143413C>A | CA358895739 | SLC25A4 | c.41C>A (p.Ala14Asp) | gnomAD v4 |
| 4 | g.185143413C= | CA1519345555 | SLC25A4 | c.41C= (p.Ala14=) | |
| 4 | g.185143413C>G | CA358895740 | SLC25A4 | c.41C>G (p.Ala14Gly) | |
| 4 | g.185143413C>T | CA358895741 | SLC25A4 | c.41C>T (p.Ala14Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.185143414C>A | CA442614687 | SLC25A4 | c.42C>A (p.Ala14=) | dbSNP gnomAD v4 |
| 4 | g.185143414C= | CA1519345558 | SLC25A4 | c.42C= (p.Ala14=) | |
| 4 | g.185143414C>G | CA3156409 | SLC25A4 | c.42C>G (p.Ala14=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.185143414C>T | CA442614691 | SLC25A4 | c.42C>T (p.Ala14=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.185143415G>A | CA358895742 | SLC25A4 | c.43G>A (p.Gly15Arg) | gnomAD v4 |
| 4 | g.185143415G>C | CA358895743 | SLC25A4 | c.43G>C (p.Gly15Arg) | gnomAD v4 |
| 4 | g.185143415G>T | CA358895744 | SLC25A4 | c.43G>T (p.Gly15Trp) | gnomAD v4 |
| 4 | g.185143419dup | CA2672840623 | SLC25A4 | c.47dup (p.Val17ArgfsTer?) | gnomAD v4 |
| 4 | g.185143419del | CA557032725 | SLC25A4 | c.47del (p.Gly16AlafsTer?) | gnomAD v2 gnomAD v4 |
| 4 | g.185143416G>A | CA358895747 | SLC25A4 | c.44G>A (p.Gly15Glu) | gnomAD v4 |
| 4 | g.185143416G>C | CA358895746 | SLC25A4 | c.44G>C (p.Gly15Ala) | |
| 4 | g.185143416G>T | CA358895745 | SLC25A4 | c.44G>T (p.Gly15Val) | |
| 4 | g.185143417G>A | CA442614709 | SLC25A4 | c.45G>A (p.Gly15=) | gnomAD v4 |
| 4 | g.185143417G>C | CA442614706 | SLC25A4 | c.45G>C (p.Gly15=) | dbSNP |
| 4 | g.185143417G= | CA1519345562 | SLC25A4 | c.45G= (p.Gly15=) | |
| 4 | g.185143417G>T | CA442614704 | SLC25A4 | c.45G>T (p.Gly15=) | dbSNP gnomAD v4 |
| 4 | g.185143418G>A | CA358895748 | SLC25A4 | c.46G>A (p.Gly16Ser) | gnomAD v4 |
| 4 | g.185143418G>C | CA358895749 | SLC25A4 | c.46G>C (p.Gly16Arg) | gnomAD v4 |
| 4 | g.185143418G>T | CA358895750 | SLC25A4 | c.46G>T (p.Gly16Cys) | gnomAD v4 |
| 4 | g.185143419G>A | CA358895751 | SLC25A4 | c.47G>A (p.Gly16Asp) | ClinVar gnomAD v4 |
| 4 | g.185143419G>C | CA358895752 | SLC25A4 | c.47G>C (p.Gly16Ala) | |
| 4 | g.185143419G>T | CA358895753 | SLC25A4 | c.47G>T (p.Gly16Val) | gnomAD v4 |
| 4 | g.185143420C>A | CA442614727 | SLC25A4 | c.48C>A (p.Gly16=) | gnomAD v4 |
| 4 | g.185143420C= | CA1519345564 | SLC25A4 | c.48C= (p.Gly16=) | |
| 4 | g.185143420C>G | CA442614725 | SLC25A4 | c.48C>G (p.Gly16=) | |
| 4 | g.185143420C>T | CA442614722 | SLC25A4 | c.48C>T (p.Gly16=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.185143421G>A | CA358895754 | SLC25A4 | c.49G>A (p.Val17Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.185143421G>C | CA358895755 | SLC25A4 | c.49G>C (p.Val17Leu) | |
| 4 | g.185143421G= | CA1519345567 | SLC25A4 | c.49G= (p.Val17=) | |
| 4 | g.185143421G>T | CA358895756 | SLC25A4 | c.49G>T (p.Val17Phe) | gnomAD v4 |
| 4 | g.185143422T>A | CA358895757 | SLC25A4 | c.50T>A (p.Val17Asp) | |
| 4 | g.185143422T>C | CA358895758 | SLC25A4 | c.50T>C (p.Val17Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.185143422T>G | CA358895759 | SLC25A4 | c.50T>G (p.Val17Gly) | |
| 4 | g.185143422T= | CA1519345570 | SLC25A4 | c.50T= (p.Val17=) | |
| 4 | g.185143423C>A | CA442614740 | SLC25A4 | c.51C>A (p.Val17=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.185143423C= | CA1519345575 | SLC25A4 | c.51C= (p.Val17=) | |
| 4 | g.185143423C>G | CA442614745 | SLC25A4 | c.51C>G (p.Val17=) | gnomAD v4 |
| 4 | g.185143423C>T | CA442614742 | SLC25A4 | c.51C>T (p.Val17=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.185143424G>A | CA358895761 | SLC25A4 | c.52G>A (p.Ala18Thr) | gnomAD v4 |
| 4 | g.185143424G>C | CA358895762 | SLC25A4 | c.52G>C (p.Ala18Pro) | |
| 4 | g.185143424G= | CA1519345577 | SLC25A4 | c.52G= (p.Ala18=) | |
| 4 | g.185143424G>T | CA358895760 | SLC25A4 | c.52G>T (p.Ala18Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.185143425C>A | CA358895763 | SLC25A4 | c.53C>A (p.Ala18Asp) | gnomAD v4 |
| 4 | g.185143425C>G | CA358895764 | SLC25A4 | c.53C>G (p.Ala18Gly) | |
| 4 | g.185143425C>T | CA358895765 | SLC25A4 | c.53C>T (p.Ala18Val) | gnomAD v4 |
| 4 | g.185143426C>A | CA442614756 | SLC25A4 | c.54C>A (p.Ala18=) | gnomAD v4 |
| 4 | g.185143426C= | CA1519345580 | SLC25A4 | c.54C= (p.Ala18=) | |
| 4 | g.185143426C>G | CA442614759 | SLC25A4 | c.54C>G (p.Ala18=) | gnomAD v4 |
| 4 | g.185143426C>T | CA112004365 | SLC25A4 | c.54C>T (p.Ala18=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.185143427G>A | CA358895766 | SLC25A4 | c.55G>A (p.Ala19Thr) | gnomAD v4 |
| 4 | g.185143427G>C | CA358895767 | SLC25A4 | c.55G>C (p.Ala19Pro) | gnomAD v4 |
| 4 | g.185143427G>T | CA358895768 | SLC25A4 | c.55G>T (p.Ala19Ser) | |
| 4 | g.185143428C>A | CA358895769 | SLC25A4 | c.56C>A (p.Ala19Asp) | gnomAD v4 |
| 4 | g.185143428C= | CA1519345583 | SLC25A4 | c.56C= (p.Ala19=) | |
| 4 | g.185143428C>G | CA358895770 | SLC25A4 | c.56C>G (p.Ala19Gly) | |
| 4 | g.185143428C>T | CA112004371 | SLC25A4 | c.56C>T (p.Ala19Val) | dbSNP gnomAD v4 |
| 4 | g.185143429T>A | CA442614774 | SLC25A4 | c.57T>A (p.Ala19=) | |
| 4 | g.185143429T>C | CA442614777 | SLC25A4 | c.57T>C (p.Ala19=) | dbSNP gnomAD v4 |
| 4 | g.185143429T>G | CA442614778 | SLC25A4 | c.57T>G (p.Ala19=) | |
| 4 | g.185143429T= | CA1519345589 | SLC25A4 | c.57T= (p.Ala19=) | |
| 4 | g.185143430G>A | CA358895771 | SLC25A4 | c.58G>A (p.Ala20Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.185143430G>C | CA358895772 | SLC25A4 | c.58G>C (p.Ala20Pro) | |
| 4 | g.185143430G= | CA1519345594 | SLC25A4 | c.58G= (p.Ala20=) | |
| 4 | g.185143430G>T | CA358895773 | SLC25A4 | c.58G>T (p.Ala20Ser) | gnomAD v4 |
| 4 | g.185143431C>A | CA358895775 | SLC25A4 | c.59C>A (p.Ala20Asp) | gnomAD v4 |
| 4 | g.185143431C= | CA1519345597 | SLC25A4 | c.59C= (p.Ala20=) | |
| 4 | g.185143431C>G | CA358895776 | SLC25A4 | c.59C>G (p.Ala20Gly) | |
| 4 | g.185143431C>T | CA358895774 | SLC25A4 | c.59C>T (p.Ala20Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.185143432C>A | CA3156410 | SLC25A4 | c.60C>A (p.Ala20=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.185143432C= | CA1519345599 | SLC25A4 | c.60C= (p.Ala20=) | |
| 4 | g.185143432C>G | CA442614793 | SLC25A4 | c.60C>G (p.Ala20=) | dbSNP |
| 4 | g.185143432C>T | CA442614796 | SLC25A4 | c.60C>T (p.Ala20=) | gnomAD v4 |
| 4 | g.185143433G>A | CA358895777 | SLC25A4 | c.61G>A (p.Val21Ile) | gnomAD v4 |
| 4 | g.185143433G>C | CA358895778 | SLC25A4 | c.61G>C (p.Val21Leu) | gnomAD v4 |
| 4 | g.185143433G= | CA1519345602 | SLC25A4 | c.61G= (p.Val21=) | |
| 4 | g.185143433G>T | CA358895779 | SLC25A4 | c.61G>T (p.Val21Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.185143434T>A | CA358895780 | SLC25A4 | c.62T>A (p.Val21Asp) | |
| 4 | g.185143434T>C | CA358895781 | SLC25A4 | c.62T>C (p.Val21Ala) | gnomAD v4 |
| 4 | g.185143434T>G | CA358895782 | SLC25A4 | c.62T>G (p.Val21Gly) | |
| 4 | g.185143435C>A | CA442614810 | SLC25A4 | c.63C>A (p.Val21=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.185143435C= | CA1519345604 | SLC25A4 | c.63C= (p.Val21=) | |
| 4 | g.185143435C>G | CA442614812 | SLC25A4 | c.63C>G (p.Val21=) | gnomAD v4 |
| 4 | g.185143435C>T | CA442614815 | SLC25A4 | c.63C>T (p.Val21=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.185143436T>A | CA358895783 | SLC25A4 | c.64T>A (p.Ser22Thr) | gnomAD v4 |
| 4 | g.185143436T>C | CA358895785 | SLC25A4 | c.64T>C (p.Ser22Pro) | gnomAD v4 |
| 4 | g.185143436T>G | CA358895784 | SLC25A4 | c.64T>G (p.Ser22Ala) | gnomAD v4 |
| 4 | g.185143437C>A | CA358895786 | SLC25A4 | c.65C>A (p.Ser22Tyr) | ClinVar gnomAD v4 |
| 4 | g.185143437C>G | CA358895787 | SLC25A4 | c.65C>G (p.Ser22Cys) | |
| 4 | g.185143437C>T | CA358895788 | SLC25A4 | c.65C>T (p.Ser22Phe) | gnomAD v4 |
| 4 | g.185143438C>A | CA442614830 | SLC25A4 | c.66C>A (p.Ser22=) | gnomAD v4 |
| 4 | g.185143438C= | CA1519345606 | SLC25A4 | c.66C= (p.Ser22=) | |
| 4 | g.185143438C>G | CA442614835 | SLC25A4 | c.66C>G (p.Ser22=) | |
| 4 | g.185143438C>T | CA3156411 | SLC25A4 | c.66C>T (p.Ser22=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.185143439A>C | CA358895789 | SLC25A4 | c.67A>C (p.Lys23Gln) | |
| 4 | g.185143439A>G | CA358895791 | SLC25A4 | c.67A>G (p.Lys23Glu) | gnomAD v4 |
| 4 | g.185143439A>T | CA358895790 | SLC25A4 | c.67A>T (p.Lys23Ter) | gnomAD v4 |
| 4 | g.185143440A>C | CA358895792 | SLC25A4 | c.68A>C (p.Lys23Thr) | gnomAD v4 |
| 4 | g.185143440A>G | CA358895793 | SLC25A4 | c.68A>G (p.Lys23Arg) | gnomAD v4 |
| 4 | g.185143440A>T | CA358895794 | SLC25A4 | c.68A>T (p.Lys23Met) | gnomAD v4 |
| 4 | g.185143441G>A | CA442614845 | SLC25A4 | c.69G>A (p.Lys23=) | gnomAD v4 |
| 4 | g.185143441G>C | CA358895795 | SLC25A4 | c.69G>C (p.Lys23Asn) | |
| 4 | g.185143441G>T | CA358895796 | SLC25A4 | c.69G>T (p.Lys23Asn) | gnomAD v4 COSMIC |
| 4 | g.185143442A>C | CA358895799 | SLC25A4 | c.70A>C (p.Thr24Pro) | |
| 4 | g.185143442A>G | CA358895798 | SLC25A4 | c.70A>G (p.Thr24Ala) | |
| 4 | g.185143442A>T | CA358895797 | SLC25A4 | c.70A>T (p.Thr24Ser) | COSMIC |
| 4 | g.185143443C>A | CA358895800 | SLC25A4 | c.71C>A (p.Thr24Asn) | gnomAD v4 |
| 4 | g.185143443C>G | CA358895801 | SLC25A4 | c.71C>G (p.Thr24Ser) | gnomAD v4 |
| 4 | g.185143443C>T | CA358895802 | SLC25A4 | c.71C>T (p.Thr24Ile) | gnomAD v4 |
| 4 | g.185143444C>A | CA442614860 | SLC25A4 | c.72C>A (p.Thr24=) | gnomAD v4 |
| 4 | g.185143444C= | CA1519345613 | SLC25A4 | c.72C= (p.Thr24=) | |
| 4 | g.185143444C>G | CA112004414 | SLC25A4 | c.72C>G (p.Thr24=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.185143444C>T | CA442614862 | SLC25A4 | c.72C>T (p.Thr24=) | dbSNP gnomAD v4 |
| 4 | g.185143446_185143447del | CA2672840624 | SLC25A4 | c.74_75del (p.Ala25GlyfsTer23) | gnomAD v4 |
| 4 | g.185143445G>A | CA3156412 | SLC25A4 | c.73G>A (p.Ala25Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.185143445G>C | CA358895803 | SLC25A4 | c.73G>C (p.Ala25Pro) | |
| 4 | g.185143445G= | CA1519345617 | SLC25A4 | c.73G= (p.Ala25=) | |
| 4 | g.185143445G>T | CA358895804 | SLC25A4 | c.73G>T (p.Ala25Ser) | gnomAD v4 |
| 4 | g.185143446del | CA2672840625 | SLC25A4 | c.74del (p.Ala25GlyfsTer?) | gnomAD v4 |
| 4 | g.185143446C>A | CA358895807 | SLC25A4 | c.74C>A (p.Ala25Glu) | gnomAD v4 |
| 4 | g.185143446C>G | CA358895805 | SLC25A4 | c.74C>G (p.Ala25Gly) | gnomAD v4 |
| 4 | g.185143446C>T | CA358895806 | SLC25A4 | c.74C>T (p.Ala25Val) | gnomAD v4 |
| 4 | g.185143447G>A | CA442614878 | SLC25A4 | c.75G>A (p.Ala25=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.185143447G>C | CA3156413 | SLC25A4 | c.75G>C (p.Ala25=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.185143447G= | CA1519345622 | SLC25A4 | c.75G= (p.Ala25=) | |
| 4 | g.185143447G>T | CA442614883 | SLC25A4 | c.75G>T (p.Ala25=) | gnomAD v4 |
| 4 | g.185143448G>A | CA358895808 | SLC25A4 | c.76G>A (p.Val26Ile) | gnomAD v4 |
| 4 | g.185143448G>C | CA358895809 | SLC25A4 | c.76G>C (p.Val26Leu) | |
| 4 | g.185143448G>T | CA358895810 | SLC25A4 | c.76G>T (p.Val26Phe) | |
| 4 | g.185143449T>A | CA358895811 | SLC25A4 | c.77T>A (p.Val26Asp) | |
| 4 | g.185143449T>C | CA358895812 | SLC25A4 | c.77T>C (p.Val26Ala) | gnomAD v4 |
| 4 | g.185143449T>G | CA358895813 | SLC25A4 | c.77T>G (p.Val26Gly) | |
| 4 | g.185143450C>A | CA442614897 | SLC25A4 | c.78C>A (p.Val26=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.185143450C= | CA1519345625 | SLC25A4 | c.78C= (p.Val26=) | |
| 4 | g.185143450C>G | CA442614899 | SLC25A4 | c.78C>G (p.Val26=) | |
| 4 | g.185143450C>T | CA442614901 | SLC25A4 | c.78C>T (p.Val26=) | gnomAD v4 |
| 4 | g.185143451G>A | CA358895814 | SLC25A4 | c.79G>A (p.Ala27Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.185143451G>C | CA358895815 | SLC25A4 | c.79G>C (p.Ala27Pro) | |
| 4 | g.185143451G= | CA1519345628 | SLC25A4 | c.79G= (p.Ala27=) | |
| 4 | g.185143451G>T | CA358895816 | SLC25A4 | c.79G>T (p.Ala27Ser) | gnomAD v4 |
| 4 | g.185143452C>A | CA358895817 | SLC25A4 | c.80C>A (p.Ala27Asp) | |
| 4 | g.185143452C= | CA1519345632 | SLC25A4 | c.80C= (p.Ala27=) | |
| 4 | g.185143452C>G | CA358895818 | SLC25A4 | c.80C>G (p.Ala27Gly) | |
| 4 | g.185143452C>T | CA358895819 | SLC25A4 | c.80C>T (p.Ala27Val) | dbSNP gnomAD v4 |
| 4 | g.185143456dup | CA2672840626 | SLC25A4 | c.84dup (p.Ile29HisfsTer20) | gnomAD v4 |
| 4 | g.185143456del | CA2672840627 | SLC25A4 | c.84del (p.Ile29SerfsTer?) | gnomAD v4 |
| 4 | g.185143453C>A | CA442614919 | SLC25A4 | c.81C>A (p.Ala27=) | gnomAD v4 |
| 4 | g.185143453C>G | CA442614914 | SLC25A4 | c.81C>G (p.Ala27=) | ClinVar |
| 4 | g.185143453C>T | CA442614916 | SLC25A4 | c.81C>T (p.Ala27=) | ClinVar gnomAD v4 |
| 4 | g.185143454C>A | CA358895822 | SLC25A4 | c.82C>A (p.Pro28Thr) | gnomAD v4 |
| 4 | g.185143454C>G | CA358895820 | SLC25A4 | c.82C>G (p.Pro28Ala) | |
| 4 | g.185143454C>T | CA358895821 | SLC25A4 | c.82C>T (p.Pro28Ser) | gnomAD v4 |
| 4 | g.185143455C>A | CA358895823 | SLC25A4 | c.83C>A (p.Pro28His) | gnomAD v4 |
| 4 | g.185143455C>G | CA358895824 | SLC25A4 | c.83C>G (p.Pro28Arg) | |
| 4 | g.185143455C>T | CA358895825 | SLC25A4 | c.83C>T (p.Pro28Leu) | gnomAD v4 |
| 4 | g.185143456C>A | CA442614933 | SLC25A4 | c.84C>A (p.Pro28=) | gnomAD v4 |
| 4 | g.185143456C= | CA1519345636 | SLC25A4 | c.84C= (p.Pro28=) | |
| 4 | g.185143456C>G | CA442614935 | SLC25A4 | c.84C>G (p.Pro28=) | dbSNP |
| 4 | g.185143456C>T | CA442614937 | SLC25A4 | c.84C>T (p.Pro28=) | gnomAD v4 |
| 4 | g.185143457A>C | CA358895826 | SLC25A4 | c.85A>C (p.Ile29Leu) | |
| 4 | g.185143457A>G | CA358895827 | SLC25A4 | c.85A>G (p.Ile29Val) | gnomAD v4 |
| 4 | g.185143457A>T | CA358895828 | SLC25A4 | c.85A>T (p.Ile29Phe) | |
| 4 | g.185143458T>A | CA358895829 | SLC25A4 | c.86T>A (p.Ile29Asn) | |
| 4 | g.185143458T>C | CA358895830 | SLC25A4 | c.86T>C (p.Ile29Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.185143458T>G | CA358895831 | SLC25A4 | c.86T>G (p.Ile29Ser) | |
| 4 | g.185143458T= | CA1519345638 | SLC25A4 | c.86T= (p.Ile29=) | |
| 4 | g.185143459C>A | CA442614951 | SLC25A4 | c.87C>A (p.Ile29=) | gnomAD v4 |
| 4 | g.185143459C>G | CA358895832 | SLC25A4 | c.87C>G (p.Ile29Met) | |
| 4 | g.185143459C>T | CA442614954 | SLC25A4 | c.87C>T (p.Ile29=) | gnomAD v4 |
| 4 | g.185143460G>A | CA358895833 | SLC25A4 | c.88G>A (p.Glu30Lys) | gnomAD v4 |
| 4 | g.185143460G>C | CA358895834 | SLC25A4 | c.88G>C (p.Glu30Gln) | |
| 4 | g.185143460G>T | CA358895835 | SLC25A4 | c.88G>T (p.Glu30Ter) | gnomAD v4 |
| 4 | g.185143461A>C | CA358895838 | SLC25A4 | c.89A>C (p.Glu30Ala) | |
| 4 | g.185143461A>G | CA358895836 | SLC25A4 | c.89A>G (p.Glu30Gly) | gnomAD v4 |
| 4 | g.185143461A>T | CA358895837 | SLC25A4 | c.89A>T (p.Glu30Val) | |
| 4 | g.185143462G>A | CA442614968 | SLC25A4 | c.90G>A (p.Glu30=) | |
| 4 | g.185143462G>C | CA112004440 | SLC25A4 | c.90G>C (p.Glu30Asp) | dbSNP COSMIC |
| 4 | g.185143462G= | CA1519345640 | SLC25A4 | c.90G= (p.Glu30=) | |
| 4 | g.185143462G>T | CA358895839 | SLC25A4 | c.90G>T (p.Glu30Asp) | gnomAD v4 |
| 4 | g.185143463A>C | CA442614973 | SLC25A4 | c.91A>C (p.Arg31=) | |
| 4 | g.185143463A>G | CA358895840 | SLC25A4 | c.91A>G (p.Arg31Gly) | ClinVar gnomAD v4 |
| 4 | g.185143463A>T | CA358895841 | SLC25A4 | c.91A>T (p.Arg31Trp) | |
| 4 | g.185143464G>A | CA112004449 | SLC25A4 | c.92G>A (p.Arg31Lys) | dbSNP |
| 4 | g.185143464G>C | CA358895842 | SLC25A4 | c.92G>C (p.Arg31Thr) | |
| 4 | g.185143464G= | CA1519345644 | SLC25A4 | c.92G= (p.Arg31=) | |
| 4 | g.185143464G>T | CA358895843 | SLC25A4 | c.92G>T (p.Arg31Met) | gnomAD v4 |
| 4 | g.185143465G>A | CA442614985 | SLC25A4 | c.93G>A (p.Arg31=) | gnomAD v4 |
| 4 | g.185143465G>C | CA358895844 | SLC25A4 | c.93G>C (p.Arg31Ser) | |
| 4 | g.185143465G>T | CA358895845 | SLC25A4 | c.93G>T (p.Arg31Ser) | |
| 4 | g.185143466G>A | CA358895846 | SLC25A4 | c.94G>A (p.Val32Ile) | gnomAD v4 |
| 4 | g.185143466G>C | CA358895847 | SLC25A4 | c.94G>C (p.Val32Leu) | |
| 4 | g.185143466G>T | CA358895848 | SLC25A4 | c.94G>T (p.Val32Phe) | COSMIC |
| 4 | g.185143467T>A | CA358895849 | SLC25A4 | c.95T>A (p.Val32Asp) | |
| 4 | g.185143467T>C | CA358895851 | SLC25A4 | c.95T>C (p.Val32Ala) | gnomAD v4 |
| 4 | g.185143467T>G | CA358895850 | SLC25A4 | c.95T>G (p.Val32Gly) | |
| 4 | g.185143468C>A | CA442615000 | SLC25A4 | c.96C>A (p.Val32=) | gnomAD v4 |
| 4 | g.185143468C= | CA1519345647 | SLC25A4 | c.96C= (p.Val32=) | |
| 4 | g.185143468C>G | CA442615002 | SLC25A4 | c.96C>G (p.Val32=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.185143468C>T | CA442615004 | SLC25A4 | c.96C>T (p.Val32=) | gnomAD v4 |
| 4 | g.185143468_185143469del | CA2578244234 | SLC25A4 | c.96_97del (p.Lys33ThrfsTer15) | |
| 4 | g.185143469A>C | CA358895852 | SLC25A4 | c.97A>C (p.Lys33Gln) | |
| 4 | g.185143469A>G | CA358895854 | SLC25A4 | c.97A>G (p.Lys33Glu) | gnomAD v4 |
| 4 | g.185143469A>T | CA358895853 | SLC25A4 | c.97A>T (p.Lys33Ter) | |
| 4 | g.185143470A= | CA1519345653 | SLC25A4 | c.98A= (p.Lys33=) | |
| 4 | g.185143470A>C | CA358895855 | SLC25A4 | c.98A>C (p.Lys33Thr) | ClinVar dbSNP |
| 4 | g.185143470A>G | CA358895856 | SLC25A4 | c.98A>G (p.Lys33Arg) | gnomAD v4 |
| 4 | g.185143470A>T | CA358895857 | SLC25A4 | c.98A>T (p.Lys33Ile) | |
| 4 | g.185143471A>C | CA358895858 | SLC25A4 | c.99A>C (p.Lys33Asn) | |
| 4 | g.185143471A>G | CA442615021 | SLC25A4 | c.99A>G (p.Lys33=) | COSMIC |
| 4 | g.185143471A>T | CA358895859 | SLC25A4 | c.99A>T (p.Lys33Asn) | |
| 4 | g.185143472C>A | CA358895860 | SLC25A4 | c.100C>A (p.Leu34Met) | gnomAD v4 |
| 4 | g.185143472C>G | CA358895861 | SLC25A4 | c.100C>G (p.Leu34Val) | |
| 4 | g.185143472C>T | CA442615028 | SLC25A4 | c.100C>T (p.Leu34=) | gnomAD v4 |
| 4 | g.185143479_185143481del | CA2672840628 | SLC25A4 | c.107_109del (p.Leu36del) | gnomAD v4 |
| 4 | g.185143473T>A | CA358895862 | SLC25A4 | c.101T>A (p.Leu34Gln) | |
| 4 | g.185143473T>C | CA358895863 | SLC25A4 | c.101T>C (p.Leu34Pro) | gnomAD v4 |
| 4 | g.185143473T>G | CA358895864 | SLC25A4 | c.101T>G (p.Leu34Arg) | |
| 4 | g.185143474del | CA2672840629 | SLC25A4 | c.102del (p.Leu35CysfsTer25) | gnomAD v4 |
| 4 | g.185143474G>A | CA442615041 | SLC25A4 | c.102G>A (p.Leu34=) | gnomAD v4 |
| 4 | g.185143474G>C | CA442615037 | SLC25A4 | c.102G>C (p.Leu34=) | |
| 4 | g.185143474G>T | CA442615039 | SLC25A4 | c.102G>T (p.Leu34=) | gnomAD v4 |
| 4 | g.185143475C>A | CA358895865 | SLC25A4 | c.103C>A (p.Leu35Met) | gnomAD v4 |
| 4 | g.185143475C>G | CA358895866 | SLC25A4 | c.103C>G (p.Leu35Val) | |
| 4 | g.185143475C>T | CA442615048 | SLC25A4 | c.103C>T (p.Leu35=) | gnomAD v4 |
| 4 | g.185143476T>A | CA358895869 | SLC25A4 | c.104T>A (p.Leu35Gln) | |
| 4 | g.185143476T>C | CA358895867 | SLC25A4 | c.104T>C (p.Leu35Pro) | |
| 4 | g.185143476T>G | CA358895868 | SLC25A4 | c.104T>G (p.Leu35Arg) | |
| 4 | g.185143477G>A | CA442615056 | SLC25A4 | c.105G>A (p.Leu35=) | gnomAD v4 |
| 4 | g.185143477G>C | CA442615058 | SLC25A4 | c.105G>C (p.Leu35=) | gnomAD v4 |
| 4 | g.185143477G>T | CA442615061 | SLC25A4 | c.105G>T (p.Leu35=) | gnomAD v4 |
| 4 | g.185143478C>A | CA358895870 | SLC25A4 | c.106C>A (p.Leu36Met) | gnomAD v4 |
| 4 | g.185143478C>G | CA358895871 | SLC25A4 | c.106C>G (p.Leu36Val) | |
| 4 | g.185143478C>T | CA442615066 | SLC25A4 | c.106C>T (p.Leu36=) | gnomAD v4 |
| 4 | g.185143479T>A | CA358895872 | SLC25A4 | c.107T>A (p.Leu36Gln) | |
| 4 | g.185143479T>C | CA358895873 | SLC25A4 | c.107T>C (p.Leu36Pro) | gnomAD v4 |
| 4 | g.185143479T>G | CA358895874 | SLC25A4 | c.107T>G (p.Leu36Arg) | |
| 4 | g.185143479dup | CA2580071690 | SLC25A4 | c.107dup (p.Gln37AlafsTer12) | ClinVar gnomAD v4 |
| 4 | g.185143480G>A | CA442615080 | SLC25A4 | c.108G>A (p.Leu36=) | gnomAD v4 |
| 4 | g.185143480G>C | CA442615075 | SLC25A4 | c.108G>C (p.Leu36=) | |
| 4 | g.185143480G>T | CA442615078 | SLC25A4 | c.108G>T (p.Leu36=) | gnomAD v4 |
| 4 | g.185143481C>A | CA358895875 | SLC25A4 | c.109C>A (p.Gln37Lys) | gnomAD v4 |
| 4 | g.185143481C>G | CA358895876 | SLC25A4 | c.109C>G (p.Gln37Glu) | |
| 4 | g.185143481C>T | CA358895877 | SLC25A4 | c.109C>T (p.Gln37Ter) | gnomAD v4 |
| 4 | g.185143482A>C | CA358895878 | SLC25A4 | c.110A>C (p.Gln37Pro) | |
| 4 | g.185143482A>G | CA358895879 | SLC25A4 | c.110A>G (p.Gln37Arg) | gnomAD v4 |
| 4 | g.185143482A>T | CA358895880 | SLC25A4 | c.110A>T (p.Gln37Leu) | gnomAD v4 |
| 4 | g.185143483G>A | CA442615095 | SLC25A4 | c.111G>A (p.Gln37=) | gnomAD v4 |
| 4 | g.185143483G>C | CA358895881 | SLC25A4 | c.111G>C (p.Gln37His) | |
| 4 | g.185143483G>T | CA358895882 | SLC25A4 | c.111G>T (p.Gln37His) | gnomAD v4 |
| 4 | g.185143484G>A | CA144815 | SLC25A4 | c.111+1G>A (n.111+1G>A) | ClinVar dbSNP |
| 4 | g.185143484G>C | CA358895883 | SLC25A4 | c.111+1G>C (n.111+1G>C) | gnomAD v4 |
| 4 | g.185143484G= | CA1519345662 | SLC25A4 | c.111+1G= (n.111+1G=) | |
| 4 | g.185143484G>T | CA358895884 | SLC25A4 | c.111+1G>T (n.111+1G>T) | |
| 4 | g.185143485T>A | CA358895885 | SLC25A4 | c.111+2T>A (n.111+2T>A) | gnomAD v4 |
| 4 | g.185143485T>C | CA358895886 | SLC25A4 | c.111+2T>C (n.111+2T>C) | gnomAD v4 |
| 4 | g.185143485T>G | CA358895887 | SLC25A4 | c.111+2T>G (n.111+2T>G) | gnomAD v4 |
| 4 | g.185143485_185143486insCCAGCATGCCAGCAAACAGATCAGTGCT | CA557032731 | SLC25A4 | c.111+2_111+3insCCAGCATGCCAGCAAACAGATCAGTGCT (n.111+2_111+3insCCAGCATGCCAGCAAACAGATCAGTGCT) | dbSNP gnomAD v2 |