| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.39394401C>T | CA2665162887 | SLC25A38 | c.578-9C>T (n.578-9C>T) c.575-9C>T (n.575-9C>T) c.572-9C>T (n.572-9C>T) c.446-9C>T (n.446-9C>T) c.722-49C>T (n.722-49C>T) c.626-9C>T (n.626-9C>T) c.614-9C>T (n.614-9C>T) c.608-9C>T (n.608-9C>T) c.626-1997C>T (n.626-1997C>T) | gnomAD v4 |
| 3 | g.39394403A= | CA1358939267 | SLC25A38 | c.578-7A= (n.578-7A=) c.575-7A= (n.575-7A=) c.572-7A= (n.572-7A=) c.446-7A= (n.446-7A=) c.722-47A= (n.722-47A=) c.626-7A= (n.626-7A=) c.614-7A= (n.614-7A=) c.608-7A= (n.608-7A=) c.626-1995A= (n.626-1995A=) | |
| 3 | g.39394403A>G | CA2327522 | SLC25A38 | c.578-7A>G (n.578-7A>G) c.575-7A>G (n.575-7A>G) c.572-7A>G (n.572-7A>G) c.446-7A>G (n.446-7A>G) c.722-47A>G (n.722-47A>G) c.626-7A>G (n.626-7A>G) c.614-7A>G (n.614-7A>G) c.608-7A>G (n.608-7A>G) c.626-1995A>G (n.626-1995A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394404T>C | CA2577557392 | SLC25A38 | c.578-6T>C (n.578-6T>C) c.575-6T>C (n.575-6T>C) c.572-6T>C (n.572-6T>C) c.446-6T>C (n.446-6T>C) c.722-46T>C (n.722-46T>C) c.626-6T>C (n.626-6T>C) c.614-6T>C (n.614-6T>C) c.608-6T>C (n.608-6T>C) c.626-1994T>C (n.626-1994T>C) | gnomAD v4 |
| 3 | g.39394406dup | CA2665162894 | SLC25A38 | c.578-4dup (n.578-4dup) c.575-4dup (n.575-4dup) c.572-4dup (n.572-4dup) c.446-4dup (n.446-4dup) c.722-44dup (n.722-44dup) c.626-4dup (n.626-4dup) c.614-4dup (n.614-4dup) c.608-4dup (n.608-4dup) c.626-1992dup (n.626-1992dup) | gnomAD v4 |
| 3 | g.39394405T>C | CA2327523 | SLC25A38 | c.578-5T>C (n.578-5T>C) c.575-5T>C (n.575-5T>C) c.572-5T>C (n.572-5T>C) c.446-5T>C (n.446-5T>C) c.722-45T>C (n.722-45T>C) c.626-5T>C (n.626-5T>C) c.614-5T>C (n.614-5T>C) c.608-5T>C (n.608-5T>C) c.626-1993T>C (n.626-1993T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.39394405T= | CA1358939268 | SLC25A38 | c.578-5T= (n.578-5T=) c.575-5T= (n.575-5T=) c.572-5T= (n.572-5T=) c.446-5T= (n.446-5T=) c.722-45T= (n.722-45T=) c.626-5T= (n.626-5T=) c.614-5T= (n.614-5T=) c.608-5T= (n.608-5T=) c.626-1993T= (n.626-1993T=) | |
| 3 | g.39394407C>T | CA2665162901 | SLC25A38 | c.578-3C>T (n.578-3C>T) c.575-3C>T (n.575-3C>T) c.572-3C>T (n.572-3C>T) c.446-3C>T (n.446-3C>T) c.722-43C>T (n.722-43C>T) c.626-3C>T (n.626-3C>T) c.614-3C>T (n.614-3C>T) c.608-3C>T (n.608-3C>T) c.626-1991C>T (n.626-1991C>T) | gnomAD v4 |
| 3 | g.39394408A>C | CA352204337 | SLC25A38 | c.578-2A>C (n.578-2A>C) c.575-2A>C (n.575-2A>C) c.572-2A>C (n.572-2A>C) c.446-2A>C (n.446-2A>C) c.722-42A>C (n.722-42A>C) c.626-2A>C (n.626-2A>C) c.614-2A>C (n.614-2A>C) c.608-2A>C (n.608-2A>C) c.626-1990A>C (n.626-1990A>C) | |
| 3 | g.39394408A>G | CA352204335 | SLC25A38 | c.578-2A>G (n.578-2A>G) c.575-2A>G (n.575-2A>G) c.572-2A>G (n.572-2A>G) c.446-2A>G (n.446-2A>G) c.722-42A>G (n.722-42A>G) c.626-2A>G (n.626-2A>G) c.614-2A>G (n.614-2A>G) c.608-2A>G (n.608-2A>G) c.626-1990A>G (n.626-1990A>G) | gnomAD v4 |
| 3 | g.39394408A>T | CA352204340 | SLC25A38 | c.578-2A>T (n.578-2A>T) c.575-2A>T (n.575-2A>T) c.572-2A>T (n.572-2A>T) c.446-2A>T (n.446-2A>T) c.722-42A>T (n.722-42A>T) c.626-2A>T (n.626-2A>T) c.614-2A>T (n.614-2A>T) c.608-2A>T (n.608-2A>T) c.626-1990A>T (n.626-1990A>T) | ClinVar dbSNP |
| 3 | g.39394409G>A | CA352204349 | SLC25A38 | c.578-1G>A (n.578-1G>A) c.575-1G>A (n.575-1G>A) c.572-1G>A (n.572-1G>A) c.446-1G>A (n.446-1G>A) c.722-41G>A (n.722-41G>A) c.626-1G>A (n.626-1G>A) c.614-1G>A (n.614-1G>A) c.608-1G>A (n.608-1G>A) c.626-1989G>A (n.626-1989G>A) | |
| 3 | g.39394409G>C | CA352204355 | SLC25A38 | c.578-1G>C (n.578-1G>C) c.575-1G>C (n.575-1G>C) c.572-1G>C (n.572-1G>C) c.446-1G>C (n.446-1G>C) c.722-41G>C (n.722-41G>C) c.626-1G>C (n.626-1G>C) c.614-1G>C (n.614-1G>C) c.608-1G>C (n.608-1G>C) c.626-1989G>C (n.626-1989G>C) | |
| 3 | g.39394409G>T | CA352204357 | SLC25A38 | c.578-1G>T (n.578-1G>T) c.575-1G>T (n.575-1G>T) c.572-1G>T (n.572-1G>T) c.446-1G>T (n.446-1G>T) c.722-41G>T (n.722-41G>T) c.626-1G>T (n.626-1G>T) c.614-1G>T (n.614-1G>T) c.608-1G>T (n.608-1G>T) c.626-1989G>T (n.626-1989G>T) | |
| 3 | g.39394410A>C | CA352204359 | SLC25A38 | c.578A>C (p.Asp193Ala) c.575A>C (p.Asp192Ala) c.572A>C (p.Asp191Ala) c.446A>C (p.Asp149Ala) c.722-40A>C (n.722-40A>C) c.626A>C (p.Asp209Ala) c.614A>C (p.Asp205Ala) c.608A>C (p.Asp203Ala) c.626-1988A>C (n.626-1988A>C) | |
| 3 | g.39394410A>G | CA352204364 | SLC25A38 | c.578A>G (p.Asp193Gly) c.575A>G (p.Asp192Gly) c.572A>G (p.Asp191Gly) c.446A>G (p.Asp149Gly) c.722-40A>G (n.722-40A>G) c.626A>G (p.Asp209Gly) c.614A>G (p.Asp205Gly) c.608A>G (p.Asp203Gly) c.626-1988A>G (n.626-1988A>G) | gnomAD v4 |
| 3 | g.39394410A>T | CA352204367 | SLC25A38 | c.578A>T (p.Asp193Val) c.575A>T (p.Asp192Val) c.572A>T (p.Asp191Val) c.446A>T (p.Asp149Val) c.722-40A>T (n.722-40A>T) c.626A>T (p.Asp209Val) c.614A>T (p.Asp205Val) c.608A>T (p.Asp203Val) c.626-1988A>T (n.626-1988A>T) | |
| 3 | g.39394411C>A | CA352204371 | SLC25A38 | c.579C>A (p.Asp193Glu) c.576C>A (p.Asp192Glu) c.573C>A (p.Asp191Glu) c.447C>A (p.Asp149Glu) c.722-39C>A (n.722-39C>A) c.627C>A (p.Asp209Glu) c.615C>A (p.Asp205Glu) c.609C>A (p.Asp203Glu) c.626-1987C>A (n.626-1987C>A) | gnomAD v4 |
| 3 | g.39394411C>G | CA352204373 | SLC25A38 | c.579C>G (p.Asp193Glu) c.576C>G (p.Asp192Glu) c.573C>G (p.Asp191Glu) c.447C>G (p.Asp149Glu) c.722-39C>G (n.722-39C>G) c.627C>G (p.Asp209Glu) c.615C>G (p.Asp205Glu) c.609C>G (p.Asp203Glu) c.626-1987C>G (n.626-1987C>G) | |
| 3 | g.39394411C>T | CA433164040 | SLC25A38 | c.579C>T (p.Asp193=) c.576C>T (p.Asp192=) c.573C>T (p.Asp191=) c.447C>T (p.Asp149=) c.722-39C>T (n.722-39C>T) c.627C>T (p.Asp209=) c.615C>T (p.Asp205=) c.609C>T (p.Asp203=) c.626-1987C>T (n.626-1987C>T) | gnomAD v4 |
| 3 | g.39394412del | CA2560898864 | SLC25A38 | c.580del (p.Gln194ArgfsTer25) c.577del (p.Gln193ArgfsTer25) c.574del (p.Gln192ArgfsTer25) c.448del (p.Gln150ArgfsTer?) c.722-38del (n.722-38del) c.628del (p.Gln210ArgfsTer25) c.616del (p.Gln206ArgfsTer25) c.610del (p.Gln204ArgfsTer25) c.448del (p.Gln150ArgfsTer25) c.626-1986del (n.626-1986del) | |
| 3 | g.39394412C>A | CA352204384 | SLC25A38 | c.580C>A (p.Gln194Lys) c.577C>A (p.Gln193Lys) c.574C>A (p.Gln192Lys) c.448C>A (p.Gln150Lys) c.722-38C>A (n.722-38C>A) c.628C>A (p.Gln210Lys) c.616C>A (p.Gln206Lys) c.610C>A (p.Gln204Lys) c.626-1986C>A (n.626-1986C>A) | |
| 3 | g.39394412C= | CA1358939269 | SLC25A38 | c.580C= (p.Gln194=) c.577C= (p.Gln193=) c.574C= (p.Gln192=) c.448C= (p.Gln150=) c.722-38C= (n.722-38C=) c.628C= (p.Gln210=) c.616C= (p.Gln206=) c.610C= (p.Gln204=) c.626-1986C= (n.626-1986C=) | |
| 3 | g.39394412C>G | CA352204387 | SLC25A38 | c.580C>G (p.Gln194Glu) c.577C>G (p.Gln193Glu) c.574C>G (p.Gln192Glu) c.448C>G (p.Gln150Glu) c.722-38C>G (n.722-38C>G) c.628C>G (p.Gln210Glu) c.616C>G (p.Gln206Glu) c.610C>G (p.Gln204Glu) c.626-1986C>G (n.626-1986C>G) | dbSNP |
| 3 | g.39394412C>T | CA352204393 | SLC25A38 | c.580C>T (p.Gln194Ter) c.577C>T (p.Gln193Ter) c.574C>T (p.Gln192Ter) c.448C>T (p.Gln150Ter) c.722-38C>T (n.722-38C>T) c.628C>T (p.Gln210Ter) c.616C>T (p.Gln206Ter) c.610C>T (p.Gln204Ter) c.626-1986C>T (n.626-1986C>T) | gnomAD v4 |
| 3 | g.39394413A= | CA1358939270 | SLC25A38 | c.581A= (p.Gln194=) c.578A= (p.Gln193=) c.575A= (p.Gln192=) c.449A= (p.Gln150=) c.722-37A= (n.722-37A=) c.629A= (p.Gln210=) c.617A= (p.Gln206=) c.611A= (p.Gln204=) c.626-1985A= (n.626-1985A=) | |
| 3 | g.39394413A>C | CA352204396 | SLC25A38 | c.581A>C (p.Gln194Pro) c.578A>C (p.Gln193Pro) c.575A>C (p.Gln192Pro) c.449A>C (p.Gln150Pro) c.722-37A>C (n.722-37A>C) c.629A>C (p.Gln210Pro) c.617A>C (p.Gln206Pro) c.611A>C (p.Gln204Pro) c.626-1985A>C (n.626-1985A>C) | |
| 3 | g.39394413A>G | CA352204399 | SLC25A38 | c.581A>G (p.Gln194Arg) c.578A>G (p.Gln193Arg) c.575A>G (p.Gln192Arg) c.449A>G (p.Gln150Arg) c.722-37A>G (n.722-37A>G) c.629A>G (p.Gln210Arg) c.617A>G (p.Gln206Arg) c.611A>G (p.Gln204Arg) c.626-1985A>G (n.626-1985A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394413A>T | CA352204403 | SLC25A38 | c.581A>T (p.Gln194Leu) c.578A>T (p.Gln193Leu) c.575A>T (p.Gln192Leu) c.449A>T (p.Gln150Leu) c.722-37A>T (n.722-37A>T) c.629A>T (p.Gln210Leu) c.617A>T (p.Gln206Leu) c.611A>T (p.Gln204Leu) c.626-1985A>T (n.626-1985A>T) | gnomAD v4 |
| 3 | g.39394414G>A | CA433164060 | SLC25A38 | c.582G>A (p.Gln194=) c.579G>A (p.Gln193=) c.576G>A (p.Gln192=) c.450G>A (p.Gln150=) c.722-36G>A (n.722-36G>A) c.630G>A (p.Gln210=) c.618G>A (p.Gln206=) c.612G>A (p.Gln204=) c.626-1984G>A (n.626-1984G>A) | |
| 3 | g.39394414G>C | CA352204406 | SLC25A38 | c.582G>C (p.Gln194His) c.579G>C (p.Gln193His) c.576G>C (p.Gln192His) c.450G>C (p.Gln150His) c.722-36G>C (n.722-36G>C) c.630G>C (p.Gln210His) c.618G>C (p.Gln206His) c.612G>C (p.Gln204His) c.626-1984G>C (n.626-1984G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.39394414G= | CA1358939271 | SLC25A38 | c.582G= (p.Gln194=) c.579G= (p.Gln193=) c.576G= (p.Gln192=) c.450G= (p.Gln150=) c.722-36G= (n.722-36G=) c.630G= (p.Gln210=) c.618G= (p.Gln206=) c.612G= (p.Gln204=) c.626-1984G= (n.626-1984G=) | |
| 3 | g.39394414G>T | CA352204413 | SLC25A38 | c.582G>T (p.Gln194His) c.579G>T (p.Gln193His) c.576G>T (p.Gln192His) c.450G>T (p.Gln150His) c.722-36G>T (n.722-36G>T) c.630G>T (p.Gln210His) c.618G>T (p.Gln206His) c.612G>T (p.Gln204His) c.626-1984G>T (n.626-1984G>T) | |
| 3 | g.39394416_39394418del | CA2665162914 | SLC25A38 | c.584_586del (p.Val195del) c.581_583del (p.Val194del) c.578_580del (p.Val193del) c.452_454del (p.Val151del) c.722-34_722-32del (n.722-34_722-32del) c.632_634del (p.Val211del) c.620_622del (p.Val207del) c.614_616del (p.Val205del) c.626-1982_626-1980del (n.626-1982_626-1980del) | gnomAD v4 |
| 3 | g.39394415G>A | CA352204417 | SLC25A38 | c.583G>A (p.Val195Met) c.580G>A (p.Val194Met) c.577G>A (p.Val193Met) c.451G>A (p.Val151Met) c.722-35G>A (n.722-35G>A) c.631G>A (p.Val211Met) c.619G>A (p.Val207Met) c.613G>A (p.Val205Met) c.626-1983G>A (n.626-1983G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.39394415G>C | CA352204419 | SLC25A38 | c.583G>C (p.Val195Leu) c.580G>C (p.Val194Leu) c.577G>C (p.Val193Leu) c.451G>C (p.Val151Leu) c.722-35G>C (n.722-35G>C) c.631G>C (p.Val211Leu) c.619G>C (p.Val207Leu) c.613G>C (p.Val205Leu) c.626-1983G>C (n.626-1983G>C) | |
| 3 | g.39394415G= | CA1358939272 | SLC25A38 | c.583G= (p.Val195=) c.580G= (p.Val194=) c.577G= (p.Val193=) c.451G= (p.Val151=) c.722-35G= (n.722-35G=) c.631G= (p.Val211=) c.619G= (p.Val207=) c.613G= (p.Val205=) c.626-1983G= (n.626-1983G=) | |
| 3 | g.39394415G>T | CA352204422 | SLC25A38 | c.583G>T (p.Val195Leu) c.580G>T (p.Val194Leu) c.577G>T (p.Val193Leu) c.451G>T (p.Val151Leu) c.722-35G>T (n.722-35G>T) c.631G>T (p.Val211Leu) c.619G>T (p.Val207Leu) c.613G>T (p.Val205Leu) c.626-1983G>T (n.626-1983G>T) | |
| 3 | g.39394416T>A | CA352204427 | SLC25A38 | c.584T>A (p.Val195Glu) c.581T>A (p.Val194Glu) c.578T>A (p.Val193Glu) c.452T>A (p.Val151Glu) c.722-34T>A (n.722-34T>A) c.632T>A (p.Val211Glu) c.620T>A (p.Val207Glu) c.614T>A (p.Val205Glu) c.626-1982T>A (n.626-1982T>A) | |
| 3 | g.39394416T>C | CA352204433 | SLC25A38 | c.584T>C (p.Val195Ala) c.581T>C (p.Val194Ala) c.578T>C (p.Val193Ala) c.452T>C (p.Val151Ala) c.722-34T>C (n.722-34T>C) c.632T>C (p.Val211Ala) c.620T>C (p.Val207Ala) c.614T>C (p.Val205Ala) c.626-1982T>C (n.626-1982T>C) | |
| 3 | g.39394416T>G | CA352204435 | SLC25A38 | c.584T>G (p.Val195Gly) c.581T>G (p.Val194Gly) c.578T>G (p.Val193Gly) c.452T>G (p.Val151Gly) c.722-34T>G (n.722-34T>G) c.632T>G (p.Val211Gly) c.620T>G (p.Val207Gly) c.614T>G (p.Val205Gly) c.626-1982T>G (n.626-1982T>G) | |
| 3 | g.39394417G>A | CA2327524 | SLC25A38 | c.585G>A (p.Val195=) c.582G>A (p.Val194=) c.579G>A (p.Val193=) c.453G>A (p.Val151=) c.722-33G>A (n.722-33G>A) c.633G>A (p.Val211=) c.621G>A (p.Val207=) c.615G>A (p.Val205=) c.626-1981G>A (n.626-1981G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394417G>C | CA433164075 | SLC25A38 | c.585G>C (p.Val195=) c.582G>C (p.Val194=) c.579G>C (p.Val193=) c.453G>C (p.Val151=) c.722-33G>C (n.722-33G>C) c.633G>C (p.Val211=) c.621G>C (p.Val207=) c.615G>C (p.Val205=) c.626-1981G>C (n.626-1981G>C) | |
| 3 | g.39394417G= | CA1358939273 | SLC25A38 | c.585G= (p.Val195=) c.582G= (p.Val194=) c.579G= (p.Val193=) c.453G= (p.Val151=) c.722-33G= (n.722-33G=) c.633G= (p.Val211=) c.621G= (p.Val207=) c.615G= (p.Val205=) c.626-1981G= (n.626-1981G=) | |
| 3 | g.39394417G>T | CA433164077 | SLC25A38 | c.585G>T (p.Val195=) c.582G>T (p.Val194=) c.579G>T (p.Val193=) c.453G>T (p.Val151=) c.722-33G>T (n.722-33G>T) c.633G>T (p.Val211=) c.621G>T (p.Val207=) c.615G>T (p.Val205=) c.626-1981G>T (n.626-1981G>T) | |
| 3 | g.39394418G>A | CA352204453 | SLC25A38 | c.586G>A (p.Asp196Asn) c.583G>A (p.Asp195Asn) c.580G>A (p.Asp194Asn) c.454G>A c.722-32G>A (n.722-32G>A) c.634G>A (p.Asp212Asn) c.622G>A (p.Asp208Asn) c.616G>A (p.Asp206Asn) c.454G>A (p.Asp152Asn) c.626-1980G>A (n.626-1980G>A) | |
| 3 | g.39394418G>C | CA352204456 | SLC25A38 | c.586G>C (p.Asp196His) c.583G>C (p.Asp195His) c.580G>C (p.Asp194His) c.454G>C c.722-32G>C (n.722-32G>C) c.634G>C (p.Asp212His) c.622G>C (p.Asp208His) c.616G>C (p.Asp206His) c.454G>C (p.Asp152His) c.626-1980G>C (n.626-1980G>C) | |
| 3 | g.39394418G>T | CA352204458 | SLC25A38 | c.586G>T (p.Asp196Tyr) c.583G>T (p.Asp195Tyr) c.580G>T (p.Asp194Tyr) c.454G>T c.722-32G>T (n.722-32G>T) c.634G>T (p.Asp212Tyr) c.622G>T (p.Asp208Tyr) c.616G>T (p.Asp206Tyr) c.454G>T (p.Asp152Tyr) c.626-1980G>T (n.626-1980G>T) | |
| 3 | g.39394419A= | CA1358939274 | SLC25A38 | c.587A= (p.Asp196=) c.584A= (p.Asp195=) c.581A= (p.Asp194=) c.722-31A= (n.722-31A=) c.635A= (p.Asp212=) c.623A= (p.Asp208=) c.617A= (p.Asp206=) c.455A= (p.Asp152=) c.626-1979A= (n.626-1979A=) | |
| 3 | g.39394419A>C | CA352204461 | SLC25A38 | c.587A>C (p.Asp196Ala) c.584A>C (p.Asp195Ala) c.581A>C (p.Asp194Ala) c.722-31A>C (n.722-31A>C) c.635A>C (p.Asp212Ala) c.623A>C (p.Asp208Ala) c.617A>C (p.Asp206Ala) c.455A>C (p.Asp152Ala) c.626-1979A>C (n.626-1979A>C) | dbSNP |
| 3 | g.39394419A>G | CA352204463 | SLC25A38 | c.587A>G (p.Asp196Gly) c.584A>G (p.Asp195Gly) c.581A>G (p.Asp194Gly) c.722-31A>G (n.722-31A>G) c.635A>G (p.Asp212Gly) c.623A>G (p.Asp208Gly) c.617A>G (p.Asp206Gly) c.455A>G (p.Asp152Gly) c.626-1979A>G (n.626-1979A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394419A>T | CA352204466 | SLC25A38 | c.587A>T (p.Asp196Val) c.584A>T (p.Asp195Val) c.581A>T (p.Asp194Val) c.722-31A>T (n.722-31A>T) c.635A>T (p.Asp212Val) c.623A>T (p.Asp208Val) c.617A>T (p.Asp206Val) c.455A>T (p.Asp152Val) c.626-1979A>T (n.626-1979A>T) | gnomAD v4 |
| 3 | g.39394420T>A | CA352204472 | SLC25A38 | c.588T>A (p.Asp196Glu) c.585T>A (p.Asp195Glu) c.582T>A (p.Asp194Glu) c.722-30T>A (n.722-30T>A) c.636T>A (p.Asp212Glu) c.624T>A (p.Asp208Glu) c.618T>A (p.Asp206Glu) c.456T>A (p.Asp152Glu) c.626-1978T>A (n.626-1978T>A) | |
| 3 | g.39394420T>C | CA433164092 | SLC25A38 | c.588T>C (p.Asp196=) c.585T>C (p.Asp195=) c.582T>C (p.Asp194=) c.722-30T>C (n.722-30T>C) c.636T>C (p.Asp212=) c.624T>C (p.Asp208=) c.618T>C (p.Asp206=) c.456T>C (p.Asp152=) c.626-1978T>C (n.626-1978T>C) | |
| 3 | g.39394420T>G | CA352204474 | SLC25A38 | c.588T>G (p.Asp196Glu) c.585T>G (p.Asp195Glu) c.582T>G (p.Asp194Glu) c.722-30T>G (n.722-30T>G) c.636T>G (p.Asp212Glu) c.624T>G (p.Asp208Glu) c.618T>G (p.Asp206Glu) c.456T>G (p.Asp152Glu) c.626-1978T>G (n.626-1978T>G) | |
| 3 | g.39394421G>A | CA352204477 | SLC25A38 | c.589G>A (p.Ala197Thr) c.586G>A (p.Ala196Thr) c.583G>A (p.Ala195Thr) c.722-29G>A (n.722-29G>A) c.637G>A (p.Ala213Thr) c.625G>A (p.Ala209Thr) c.619G>A (p.Ala207Thr) c.457G>A (p.Ala153Thr) c.626-1977G>A (n.626-1977G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.39394421G>C | CA352204479 | SLC25A38 | c.589G>C (p.Ala197Pro) c.586G>C (p.Ala196Pro) c.583G>C (p.Ala195Pro) c.722-29G>C (n.722-29G>C) c.637G>C (p.Ala213Pro) c.625G>C (p.Ala209Pro) c.619G>C (p.Ala207Pro) c.457G>C (p.Ala153Pro) c.626-1977G>C (n.626-1977G>C) | |
| 3 | g.39394421G= | CA1358939275 | SLC25A38 | c.589G= (p.Ala197=) c.586G= (p.Ala196=) c.583G= (p.Ala195=) c.722-29G= (n.722-29G=) c.637G= (p.Ala213=) c.625G= (p.Ala209=) c.619G= (p.Ala207=) c.457G= (p.Ala153=) c.626-1977G= (n.626-1977G=) | |
| 3 | g.39394421G>T | CA352204481 | SLC25A38 | c.589G>T (p.Ala197Ser) c.586G>T (p.Ala196Ser) c.583G>T (p.Ala195Ser) c.722-29G>T (n.722-29G>T) c.637G>T (p.Ala213Ser) c.625G>T (p.Ala209Ser) c.619G>T (p.Ala207Ser) c.457G>T (p.Ala153Ser) c.626-1977G>T (n.626-1977G>T) | |
| 3 | g.39394422C>A | CA352204484 | SLC25A38 | c.590C>A (p.Ala197Glu) c.587C>A (p.Ala196Glu) c.584C>A (p.Ala195Glu) c.722-28C>A (n.722-28C>A) c.638C>A (p.Ala213Glu) c.626C>A (p.Ala209Glu) c.620C>A (p.Ala207Glu) c.458C>A (p.Ala153Glu) c.626-1976C>A (n.626-1976C>A) | |
| 3 | g.39394422C= | CA1358939276 | SLC25A38 | c.590C= (p.Ala197=) c.587C= (p.Ala196=) c.584C= (p.Ala195=) c.722-28C= (n.722-28C=) c.638C= (p.Ala213=) c.626C= (p.Ala209=) c.620C= (p.Ala207=) c.458C= (p.Ala153=) c.626-1976C= (n.626-1976C=) | |
| 3 | g.39394422C>G | CA2327525 | SLC25A38 | c.590C>G (p.Ala197Gly) c.587C>G (p.Ala196Gly) c.584C>G (p.Ala195Gly) c.722-28C>G (n.722-28C>G) c.638C>G (p.Ala213Gly) c.626C>G (p.Ala209Gly) c.620C>G (p.Ala207Gly) c.458C>G (p.Ala153Gly) c.626-1976C>G (n.626-1976C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.39394422C>T | CA352204490 | SLC25A38 | c.590C>T (p.Ala197Val) c.587C>T (p.Ala196Val) c.584C>T (p.Ala195Val) c.722-28C>T (n.722-28C>T) c.638C>T (p.Ala213Val) c.626C>T (p.Ala209Val) c.620C>T (p.Ala207Val) c.458C>T (p.Ala153Val) c.626-1976C>T (n.626-1976C>T) | |
| 3 | g.39394423A>C | CA433164114 | SLC25A38 | c.591A>C (p.Ala197=) c.588A>C (p.Ala196=) c.585A>C (p.Ala195=) c.722-27A>C (n.722-27A>C) c.639A>C (p.Ala213=) c.627A>C (p.Ala209=) c.621A>C (p.Ala207=) c.459A>C (p.Ala153=) c.626-1975A>C (n.626-1975A>C) | |
| 3 | g.39394423A>G | CA433164118 | SLC25A38 | c.591A>G (p.Ala197=) c.588A>G (p.Ala196=) c.585A>G (p.Ala195=) c.722-27A>G (n.722-27A>G) c.639A>G (p.Ala213=) c.627A>G (p.Ala209=) c.621A>G (p.Ala207=) c.459A>G (p.Ala153=) c.626-1975A>G (n.626-1975A>G) | |
| 3 | g.39394423A>T | CA433164122 | SLC25A38 | c.591A>T (p.Ala197=) c.588A>T (p.Ala196=) c.585A>T (p.Ala195=) c.722-27A>T (n.722-27A>T) c.639A>T (p.Ala213=) c.627A>T (p.Ala209=) c.621A>T (p.Ala207=) c.459A>T (p.Ala153=) c.626-1975A>T (n.626-1975A>T) | |
| 3 | g.39394424A= | CA1358939277 | SLC25A38 | c.592A= (p.Thr198=) c.589A= (p.Thr197=) c.586A= (p.Thr196=) c.722-26A= (n.722-26A=) c.640A= (p.Thr214=) c.628A= (p.Thr210=) c.622A= (p.Thr208=) c.460A= (p.Thr154=) c.626-1974A= (n.626-1974A=) | |
| 3 | g.39394424A>C | CA352204494 | SLC25A38 | c.592A>C (p.Thr198Pro) c.589A>C (p.Thr197Pro) c.586A>C (p.Thr196Pro) c.722-26A>C (n.722-26A>C) c.640A>C (p.Thr214Pro) c.628A>C (p.Thr210Pro) c.622A>C (p.Thr208Pro) c.460A>C (p.Thr154Pro) c.626-1974A>C (n.626-1974A>C) | |
| 3 | g.39394424A>G | CA352204498 | SLC25A38 | c.592A>G (p.Thr198Ala) c.589A>G (p.Thr197Ala) c.586A>G (p.Thr196Ala) c.722-26A>G (n.722-26A>G) c.640A>G (p.Thr214Ala) c.628A>G (p.Thr210Ala) c.622A>G (p.Thr208Ala) c.460A>G (p.Thr154Ala) c.626-1974A>G (n.626-1974A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.39394424A>T | CA352204501 | SLC25A38 | c.592A>T (p.Thr198Ser) c.589A>T (p.Thr197Ser) c.586A>T (p.Thr196Ser) c.722-26A>T (n.722-26A>T) c.640A>T (p.Thr214Ser) c.628A>T (p.Thr210Ser) c.622A>T (p.Thr208Ser) c.460A>T (p.Thr154Ser) c.626-1974A>T (n.626-1974A>T) | |
| 3 | g.39394425C>A | CA352204505 | SLC25A38 | c.593C>A (p.Thr198Asn) c.590C>A (p.Thr197Asn) c.587C>A (p.Thr196Asn) c.722-25C>A (n.722-25C>A) c.641C>A (p.Thr214Asn) c.629C>A (p.Thr210Asn) c.623C>A (p.Thr208Asn) c.461C>A (p.Thr154Asn) c.626-1973C>A (n.626-1973C>A) | |
| 3 | g.39394425C>G | CA352204510 | SLC25A38 | c.593C>G (p.Thr198Ser) c.590C>G (p.Thr197Ser) c.587C>G (p.Thr196Ser) c.722-25C>G (n.722-25C>G) c.641C>G (p.Thr214Ser) c.629C>G (p.Thr210Ser) c.623C>G (p.Thr208Ser) c.461C>G (p.Thr154Ser) c.626-1973C>G (n.626-1973C>G) | |
| 3 | g.39394425C>T | CA352204523 | SLC25A38 | c.593C>T (p.Thr198Ile) c.590C>T (p.Thr197Ile) c.587C>T (p.Thr196Ile) c.722-25C>T (n.722-25C>T) c.641C>T (p.Thr214Ile) c.629C>T (p.Thr210Ile) c.623C>T (p.Thr208Ile) c.461C>T (p.Thr154Ile) c.626-1973C>T (n.626-1973C>T) | COSMIC |
| 3 | g.39394426C>A | CA433164134 | SLC25A38 | c.594C>A (p.Thr198=) c.591C>A (p.Thr197=) c.588C>A (p.Thr196=) c.722-24C>A (n.722-24C>A) c.642C>A (p.Thr214=) c.630C>A (p.Thr210=) c.624C>A (p.Thr208=) c.462C>A (p.Thr154=) c.626-1972C>A (n.626-1972C>A) | ClinVar gnomAD v4 |
| 3 | g.39394426C>G | CA433164136 | SLC25A38 | c.594C>G (p.Thr198=) c.591C>G (p.Thr197=) c.588C>G (p.Thr196=) c.722-24C>G (n.722-24C>G) c.642C>G (p.Thr214=) c.630C>G (p.Thr210=) c.624C>G (p.Thr208=) c.462C>G (p.Thr154=) c.626-1972C>G (n.626-1972C>G) | |
| 3 | g.39394426C>T | CA433164137 | SLC25A38 | c.594C>T (p.Thr198=) c.591C>T (p.Thr197=) c.588C>T (p.Thr196=) c.722-24C>T (n.722-24C>T) c.642C>T (p.Thr214=) c.630C>T (p.Thr210=) c.624C>T (p.Thr208=) c.462C>T (p.Thr154=) c.626-1972C>T (n.626-1972C>T) | |
| 3 | g.39394427C>A | CA352204528 | SLC25A38 | c.595C>A (p.Leu199Ile) c.592C>A (p.Leu198Ile) c.589C>A (p.Leu197Ile) c.722-23C>A (n.722-23C>A) c.643C>A (p.Leu215Ile) c.631C>A (p.Leu211Ile) c.625C>A (p.Leu209Ile) c.463C>A (p.Leu155Ile) c.626-1971C>A (n.626-1971C>A) | |
| 3 | g.39394427C>G | CA352204539 | SLC25A38 | c.595C>G (p.Leu199Val) c.592C>G (p.Leu198Val) c.589C>G (p.Leu197Val) c.722-23C>G (n.722-23C>G) c.643C>G (p.Leu215Val) c.631C>G (p.Leu211Val) c.625C>G (p.Leu209Val) c.463C>G (p.Leu155Val) c.626-1971C>G (n.626-1971C>G) | |
| 3 | g.39394427C>T | CA352204527 | SLC25A38 | c.595C>T (p.Leu199Phe) c.592C>T (p.Leu198Phe) c.589C>T (p.Leu197Phe) c.722-23C>T (n.722-23C>T) c.643C>T (p.Leu215Phe) c.631C>T (p.Leu211Phe) c.625C>T (p.Leu209Phe) c.463C>T (p.Leu155Phe) c.626-1971C>T (n.626-1971C>T) | |
| 3 | g.39394428T>A | CA352204682 | SLC25A38 | c.596T>A (p.Leu199His) c.593T>A (p.Leu198His) c.590T>A (p.Leu197His) c.722-22T>A (n.722-22T>A) c.644T>A (p.Leu215His) c.632T>A (p.Leu211His) c.626T>A (p.Leu209His) c.464T>A (p.Leu155His) c.626-1970T>A (n.626-1970T>A) | |
| 3 | g.39394428T>C | CA352204688 | SLC25A38 | c.596T>C (p.Leu199Pro) c.593T>C (p.Leu198Pro) c.590T>C (p.Leu197Pro) c.722-22T>C (n.722-22T>C) c.644T>C (p.Leu215Pro) c.632T>C (p.Leu211Pro) c.626T>C (p.Leu209Pro) c.464T>C (p.Leu155Pro) c.626-1970T>C (n.626-1970T>C) | |
| 3 | g.39394428T>G | CA352204691 | SLC25A38 | c.596T>G (p.Leu199Arg) c.593T>G (p.Leu198Arg) c.590T>G (p.Leu197Arg) c.722-22T>G (n.722-22T>G) c.644T>G (p.Leu215Arg) c.632T>G (p.Leu211Arg) c.626T>G (p.Leu209Arg) c.464T>G (p.Leu155Arg) c.626-1970T>G (n.626-1970T>G) | |
| 3 | g.39394429T>A | CA433164163 | SLC25A38 | c.597T>A (p.Leu199=) c.594T>A (p.Leu198=) c.591T>A (p.Leu197=) c.722-21T>A (n.722-21T>A) c.645T>A (p.Leu215=) c.633T>A (p.Leu211=) c.627T>A (p.Leu209=) c.465T>A (p.Leu155=) c.626-1969T>A (n.626-1969T>A) | |
| 3 | g.39394429T>C | CA433164156 | SLC25A38 | c.597T>C (p.Leu199=) c.594T>C (p.Leu198=) c.591T>C (p.Leu197=) c.722-21T>C (n.722-21T>C) c.645T>C (p.Leu215=) c.633T>C (p.Leu211=) c.627T>C (p.Leu209=) c.465T>C (p.Leu155=) c.626-1969T>C (n.626-1969T>C) | |
| 3 | g.39394429T>G | CA433164153 | SLC25A38 | c.597T>G (p.Leu199=) c.594T>G (p.Leu198=) c.591T>G (p.Leu197=) c.722-21T>G (n.722-21T>G) c.645T>G (p.Leu215=) c.633T>G (p.Leu211=) c.627T>G (p.Leu209=) c.465T>G (p.Leu155=) c.626-1969T>G (n.626-1969T>G) | |
| 3 | g.39394430A>C | CA352204697 | SLC25A38 | c.598A>C (p.Ile200Leu) c.595A>C (p.Ile199Leu) c.592A>C (p.Ile198Leu) c.722-20A>C (n.722-20A>C) c.646A>C (p.Ile216Leu) c.634A>C (p.Ile212Leu) c.628A>C (p.Ile210Leu) c.466A>C (p.Ile156Leu) c.626-1968A>C (n.626-1968A>C) | |
| 3 | g.39394430A>G | CA352204699 | SLC25A38 | c.598A>G (p.Ile200Val) c.595A>G (p.Ile199Val) c.592A>G (p.Ile198Val) c.722-20A>G (n.722-20A>G) c.646A>G (p.Ile216Val) c.634A>G (p.Ile212Val) c.628A>G (p.Ile210Val) c.466A>G (p.Ile156Val) c.626-1968A>G (n.626-1968A>G) | |
| 3 | g.39394430A>T | CA352204701 | SLC25A38 | c.598A>T (p.Ile200Phe) c.595A>T (p.Ile199Phe) c.592A>T (p.Ile198Phe) c.722-20A>T (n.722-20A>T) c.646A>T (p.Ile216Phe) c.634A>T (p.Ile212Phe) c.628A>T (p.Ile210Phe) c.466A>T (p.Ile156Phe) c.626-1968A>T (n.626-1968A>T) | |
| 3 | g.39394431T>A | CA352204703 | SLC25A38 | c.599T>A (p.Ile200Asn) c.596T>A (p.Ile199Asn) c.593T>A (p.Ile198Asn) c.722-19T>A (n.722-19T>A) c.647T>A (p.Ile216Asn) c.635T>A (p.Ile212Asn) c.629T>A (p.Ile210Asn) c.467T>A (p.Ile156Asn) c.626-1967T>A (n.626-1967T>A) | |
| 3 | g.39394431T>C | CA352204709 | SLC25A38 | c.599T>C (p.Ile200Thr) c.596T>C (p.Ile199Thr) c.593T>C (p.Ile198Thr) c.722-19T>C (n.722-19T>C) c.647T>C (p.Ile216Thr) c.635T>C (p.Ile212Thr) c.629T>C (p.Ile210Thr) c.467T>C (p.Ile156Thr) c.626-1967T>C (n.626-1967T>C) | |
| 3 | g.39394431T>G | CA352204705 | SLC25A38 | c.599T>G (p.Ile200Ser) c.596T>G (p.Ile199Ser) c.593T>G (p.Ile198Ser) c.722-19T>G (n.722-19T>G) c.647T>G (p.Ile216Ser) c.635T>G (p.Ile212Ser) c.629T>G (p.Ile210Ser) c.467T>G (p.Ile156Ser) c.626-1967T>G (n.626-1967T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394431T= | CA1358939278 | SLC25A38 | c.599T= (p.Ile200=) c.596T= (p.Ile199=) c.593T= (p.Ile198=) c.722-19T= (n.722-19T=) c.647T= (p.Ile216=) c.635T= (p.Ile212=) c.629T= (p.Ile210=) c.467T= (p.Ile156=) c.626-1967T= (n.626-1967T=) | |
| 3 | g.39394432T>A | CA433164185 | SLC25A38 | c.600T>A (p.Ile200=) c.597T>A (p.Ile199=) c.594T>A (p.Ile198=) c.722-18T>A (n.722-18T>A) c.648T>A (p.Ile216=) c.636T>A (p.Ile212=) c.630T>A (p.Ile210=) c.468T>A (p.Ile156=) c.626-1966T>A (n.626-1966T>A) | |
| 3 | g.39394432T>C | CA433164189 | SLC25A38 | c.600T>C (p.Ile200=) c.597T>C (p.Ile199=) c.594T>C (p.Ile198=) c.722-18T>C (n.722-18T>C) c.648T>C (p.Ile216=) c.636T>C (p.Ile212=) c.630T>C (p.Ile210=) c.468T>C (p.Ile156=) c.626-1966T>C (n.626-1966T>C) | |
| 3 | g.39394432T>G | CA352204711 | SLC25A38 | c.600T>G (p.Ile200Met) c.597T>G (p.Ile199Met) c.594T>G (p.Ile198Met) c.722-18T>G (n.722-18T>G) c.648T>G (p.Ile216Met) c.636T>G (p.Ile212Met) c.630T>G (p.Ile210Met) c.468T>G (p.Ile156Met) c.626-1966T>G (n.626-1966T>G) | |
| 3 | g.39394433C>A | CA352204713 | SLC25A38 | c.601C>A (p.Pro201Thr) c.598C>A (p.Pro200Thr) c.595C>A (p.Pro199Thr) c.722-17C>A (n.722-17C>A) c.649C>A (p.Pro217Thr) c.637C>A (p.Pro213Thr) c.631C>A (p.Pro211Thr) c.469C>A (p.Pro157Thr) c.626-1965C>A (n.626-1965C>A) | |
| 3 | g.39394433C>G | CA352204714 | SLC25A38 | c.601C>G (p.Pro201Ala) c.598C>G (p.Pro200Ala) c.595C>G (p.Pro199Ala) c.722-17C>G (n.722-17C>G) c.649C>G (p.Pro217Ala) c.637C>G (p.Pro213Ala) c.631C>G (p.Pro211Ala) c.469C>G (p.Pro157Ala) c.626-1965C>G (n.626-1965C>G) | |
| 3 | g.39394433C>T | CA352204716 | SLC25A38 | c.601C>T (p.Pro201Ser) c.598C>T (p.Pro200Ser) c.595C>T (p.Pro199Ser) c.722-17C>T (n.722-17C>T) c.649C>T (p.Pro217Ser) c.637C>T (p.Pro213Ser) c.631C>T (p.Pro211Ser) c.469C>T (p.Pro157Ser) c.626-1965C>T (n.626-1965C>T) | |
| 3 | g.39394434C>A | CA352204717 | SLC25A38 | c.602C>A (p.Pro201His) c.599C>A (p.Pro200His) c.596C>A (p.Pro199His) c.722-16C>A (n.722-16C>A) c.650C>A (p.Pro217His) c.638C>A (p.Pro213His) c.632C>A (p.Pro211His) c.470C>A (p.Pro157His) c.626-1964C>A (n.626-1964C>A) | |
| 3 | g.39394434C= | CA1358939279 | SLC25A38 | c.602C= (p.Pro201=) c.599C= (p.Pro200=) c.596C= (p.Pro199=) c.722-16C= (n.722-16C=) c.650C= (p.Pro217=) c.638C= (p.Pro213=) c.632C= (p.Pro211=) c.470C= (p.Pro157=) c.626-1964C= (n.626-1964C=) | |
| 3 | g.39394434C>G | CA352204720 | SLC25A38 | c.602C>G (p.Pro201Arg) c.599C>G (p.Pro200Arg) c.596C>G (p.Pro199Arg) c.722-16C>G (n.722-16C>G) c.650C>G (p.Pro217Arg) c.638C>G (p.Pro213Arg) c.632C>G (p.Pro211Arg) c.470C>G (p.Pro157Arg) c.626-1964C>G (n.626-1964C>G) | |
| 3 | g.39394434C>T | CA352204718 | SLC25A38 | c.602C>T (p.Pro201Leu) c.599C>T (p.Pro200Leu) c.596C>T (p.Pro199Leu) c.722-16C>T (n.722-16C>T) c.650C>T (p.Pro217Leu) c.638C>T (p.Pro213Leu) c.632C>T (p.Pro211Leu) c.470C>T (p.Pro157Leu) c.626-1964C>T (n.626-1964C>T) | dbSNP gnomAD v4 |
| 3 | g.39394435T>A | CA433164210 | SLC25A38 | c.603T>A (p.Pro201=) c.600T>A (p.Pro200=) c.597T>A (p.Pro199=) c.722-15T>A (n.722-15T>A) c.651T>A (p.Pro217=) c.639T>A (p.Pro213=) c.633T>A (p.Pro211=) c.471T>A (p.Pro157=) c.626-1963T>A (n.626-1963T>A) | |
| 3 | g.39394435T>C | CA433164211 | SLC25A38 | c.603T>C (p.Pro201=) c.600T>C (p.Pro200=) c.597T>C (p.Pro199=) c.722-15T>C (n.722-15T>C) c.651T>C (p.Pro217=) c.639T>C (p.Pro213=) c.633T>C (p.Pro211=) c.471T>C (p.Pro157=) c.626-1963T>C (n.626-1963T>C) | gnomAD v4 |
| 3 | g.39394435T>G | CA433164212 | SLC25A38 | c.603T>G (p.Pro201=) c.600T>G (p.Pro200=) c.597T>G (p.Pro199=) c.722-15T>G (n.722-15T>G) c.651T>G (p.Pro217=) c.639T>G (p.Pro213=) c.633T>G (p.Pro211=) c.471T>G (p.Pro157=) c.626-1963T>G (n.626-1963T>G) | |
| 3 | g.39394436A= | CA1358939280 | SLC25A38 | c.604A= (p.Ile202=) c.601A= (p.Ile201=) c.598A= (p.Ile200=) c.722-14A= (n.722-14A=) c.652A= (p.Ile218=) c.640A= (p.Ile214=) c.634A= (p.Ile212=) c.472A= (p.Ile158=) c.626-1962A= (n.626-1962A=) | |
| 3 | g.39394436A>C | CA352204722 | SLC25A38 | c.604A>C (p.Ile202Leu) c.601A>C (p.Ile201Leu) c.598A>C (p.Ile200Leu) c.722-14A>C (n.722-14A>C) c.652A>C (p.Ile218Leu) c.640A>C (p.Ile214Leu) c.634A>C (p.Ile212Leu) c.472A>C (p.Ile158Leu) c.626-1962A>C (n.626-1962A>C) | |
| 3 | g.39394436A>G | CA352204726 | SLC25A38 | c.604A>G (p.Ile202Val) c.601A>G (p.Ile201Val) c.598A>G (p.Ile200Val) c.722-14A>G (n.722-14A>G) c.652A>G (p.Ile218Val) c.640A>G (p.Ile214Val) c.634A>G (p.Ile212Val) c.472A>G (p.Ile158Val) c.626-1962A>G (n.626-1962A>G) | |
| 3 | g.39394436A>T | CA2327526 | SLC25A38 | c.604A>T (p.Ile202Phe) c.601A>T (p.Ile201Phe) c.598A>T (p.Ile200Phe) c.722-14A>T (n.722-14A>T) c.652A>T (p.Ile218Phe) c.640A>T (p.Ile214Phe) c.634A>T (p.Ile212Phe) c.472A>T (p.Ile158Phe) c.626-1962A>T (n.626-1962A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394437T>A | CA352204729 | SLC25A38 | c.605T>A (p.Ile202Asn) c.602T>A (p.Ile201Asn) c.599T>A (p.Ile200Asn) c.722-13T>A (n.722-13T>A) c.653T>A (p.Ile218Asn) c.641T>A (p.Ile214Asn) c.635T>A (p.Ile212Asn) c.473T>A (p.Ile158Asn) c.626-1961T>A (n.626-1961T>A) | |
| 3 | g.39394437T>C | CA352204730 | SLC25A38 | c.605T>C (p.Ile202Thr) c.602T>C (p.Ile201Thr) c.599T>C (p.Ile200Thr) c.722-13T>C (n.722-13T>C) c.653T>C (p.Ile218Thr) c.641T>C (p.Ile214Thr) c.635T>C (p.Ile212Thr) c.473T>C (p.Ile158Thr) c.626-1961T>C (n.626-1961T>C) | |
| 3 | g.39394437T>G | CA352204731 | SLC25A38 | c.605T>G (p.Ile202Ser) c.602T>G (p.Ile201Ser) c.599T>G (p.Ile200Ser) c.722-13T>G (n.722-13T>G) c.653T>G (p.Ile218Ser) c.641T>G (p.Ile214Ser) c.635T>G (p.Ile212Ser) c.473T>G (p.Ile158Ser) c.626-1961T>G (n.626-1961T>G) | |
| 3 | g.39394438T>A | CA433164236 | SLC25A38 | c.606T>A (p.Ile202=) c.603T>A (p.Ile201=) c.600T>A (p.Ile200=) c.722-12T>A (n.722-12T>A) c.654T>A (p.Ile218=) c.642T>A (p.Ile214=) c.636T>A (p.Ile212=) c.474T>A (p.Ile158=) c.626-1960T>A (n.626-1960T>A) | |
| 3 | g.39394438T>C | CA433164240 | SLC25A38 | c.606T>C (p.Ile202=) c.603T>C (p.Ile201=) c.600T>C (p.Ile200=) c.722-12T>C (n.722-12T>C) c.654T>C (p.Ile218=) c.642T>C (p.Ile214=) c.636T>C (p.Ile212=) c.474T>C (p.Ile158=) c.626-1960T>C (n.626-1960T>C) | |
| 3 | g.39394438T>G | CA352204733 | SLC25A38 | c.606T>G (p.Ile202Met) c.603T>G (p.Ile201Met) c.600T>G (p.Ile200Met) c.722-12T>G (n.722-12T>G) c.654T>G (p.Ile218Met) c.642T>G (p.Ile214Met) c.636T>G (p.Ile212Met) c.474T>G (p.Ile158Met) c.626-1960T>G (n.626-1960T>G) | dbSNP |
| 3 | g.39394438T= | CA1358939281 | SLC25A38 | c.606T= (p.Ile202=) c.603T= (p.Ile201=) c.600T= (p.Ile200=) c.722-12T= (n.722-12T=) c.654T= (p.Ile218=) c.642T= (p.Ile214=) c.636T= (p.Ile212=) c.474T= (p.Ile158=) c.626-1960T= (n.626-1960T=) | |
| 3 | g.39394439A= | CA1358939282 | SLC25A38 | c.607A= (p.Thr203=) c.604A= (p.Thr202=) c.601A= (p.Thr201=) c.722-11A= (n.722-11A=) c.655A= (p.Thr219=) c.643A= (p.Thr215=) c.637A= (p.Thr213=) c.475A= (p.Thr159=) c.626-1959A= (n.626-1959A=) | |
| 3 | g.39394439A>C | CA352204736 | SLC25A38 | c.607A>C (p.Thr203Pro) c.604A>C (p.Thr202Pro) c.601A>C (p.Thr201Pro) c.722-11A>C (n.722-11A>C) c.655A>C (p.Thr219Pro) c.643A>C (p.Thr215Pro) c.637A>C (p.Thr213Pro) c.475A>C (p.Thr159Pro) c.626-1959A>C (n.626-1959A>C) | |
| 3 | g.39394439A>G | CA2327527 | SLC25A38 | c.607A>G (p.Thr203Ala) c.604A>G (p.Thr202Ala) c.601A>G (p.Thr201Ala) c.722-11A>G (n.722-11A>G) c.655A>G (p.Thr219Ala) c.643A>G (p.Thr215Ala) c.637A>G (p.Thr213Ala) c.475A>G (p.Thr159Ala) c.626-1959A>G (n.626-1959A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394439A>T | CA352204737 | SLC25A38 | c.607A>T (p.Thr203Ser) c.604A>T (p.Thr202Ser) c.601A>T (p.Thr201Ser) c.722-11A>T (n.722-11A>T) c.655A>T (p.Thr219Ser) c.643A>T (p.Thr215Ser) c.637A>T (p.Thr213Ser) c.475A>T (p.Thr159Ser) c.626-1959A>T (n.626-1959A>T) | |
| 3 | g.39394440C>A | CA352204738 | SLC25A38 | c.608C>A (p.Thr203Lys) c.605C>A (p.Thr202Lys) c.602C>A (p.Thr201Lys) c.722-10C>A (n.722-10C>A) c.656C>A (p.Thr219Lys) c.644C>A (p.Thr215Lys) c.638C>A (p.Thr213Lys) c.476C>A (p.Thr159Lys) c.626-1958C>A (n.626-1958C>A) | |
| 3 | g.39394440C>G | CA352204739 | SLC25A38 | c.608C>G (p.Thr203Arg) c.605C>G (p.Thr202Arg) c.602C>G (p.Thr201Arg) c.722-10C>G (n.722-10C>G) c.656C>G (p.Thr219Arg) c.644C>G (p.Thr215Arg) c.638C>G (p.Thr213Arg) c.476C>G (p.Thr159Arg) c.626-1958C>G (n.626-1958C>G) | |
| 3 | g.39394440C>T | CA352204742 | SLC25A38 | c.608C>T (p.Thr203Ile) c.605C>T (p.Thr202Ile) c.602C>T (p.Thr201Ile) c.722-10C>T (n.722-10C>T) c.656C>T (p.Thr219Ile) c.644C>T (p.Thr215Ile) c.638C>T (p.Thr213Ile) c.476C>T (p.Thr159Ile) c.626-1958C>T (n.626-1958C>T) | gnomAD v4 |
| 3 | g.39394441A= | CA1358939283 | SLC25A38 | c.609A= (p.Thr203=) c.606A= (p.Thr202=) c.603A= (p.Thr201=) c.722-9A= (n.722-9A=) c.657A= (p.Thr219=) c.645A= (p.Thr215=) c.639A= (p.Thr213=) c.477A= (p.Thr159=) c.626-1957A= (n.626-1957A=) | |
| 3 | g.39394441A>C | CA433164258 | SLC25A38 | c.609A>C (p.Thr203=) c.606A>C (p.Thr202=) c.603A>C (p.Thr201=) c.722-9A>C (n.722-9A>C) c.657A>C (p.Thr219=) c.645A>C (p.Thr215=) c.639A>C (p.Thr213=) c.477A>C (p.Thr159=) c.626-1957A>C (n.626-1957A>C) | |
| 3 | g.39394441A>G | CA433164254 | SLC25A38 | c.609A>G (p.Thr203=) c.606A>G (p.Thr202=) c.603A>G (p.Thr201=) c.722-9A>G (n.722-9A>G) c.657A>G (p.Thr219=) c.645A>G (p.Thr215=) c.639A>G (p.Thr213=) c.477A>G (p.Thr159=) c.626-1957A>G (n.626-1957A>G) | |
| 3 | g.39394441A>T | CA433164255 | SLC25A38 | c.609A>T (p.Thr203=) c.606A>T (p.Thr202=) c.603A>T (p.Thr201=) c.722-9A>T (n.722-9A>T) c.657A>T (p.Thr219=) c.645A>T (p.Thr215=) c.639A>T (p.Thr213=) c.477A>T (p.Thr159=) c.626-1957A>T (n.626-1957A>T) | dbSNP |
| 3 | g.39394442A= | CA1358939284 | SLC25A38 | c.610A= (p.Asn204=) c.607A= (p.Asn203=) c.604A= (p.Asn202=) c.722-8A= (n.722-8A=) c.658A= (p.Asn220=) c.646A= (p.Asn216=) c.640A= (p.Asn214=) c.478A= (p.Asn160=) c.626-1956A= (n.626-1956A=) | |
| 3 | g.39394442A>C | CA352204751 | SLC25A38 | c.610A>C (p.Asn204His) c.607A>C (p.Asn203His) c.604A>C (p.Asn202His) c.722-8A>C (n.722-8A>C) c.658A>C (p.Asn220His) c.646A>C (p.Asn216His) c.640A>C (p.Asn214His) c.478A>C (p.Asn160His) c.626-1956A>C (n.626-1956A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.39394442A>G | CA352204747 | SLC25A38 | c.610A>G (p.Asn204Asp) c.607A>G (p.Asn203Asp) c.604A>G (p.Asn202Asp) c.722-8A>G (n.722-8A>G) c.658A>G (p.Asn220Asp) c.646A>G (p.Asn216Asp) c.640A>G (p.Asn214Asp) c.478A>G (p.Asn160Asp) c.626-1956A>G (n.626-1956A>G) | |
| 3 | g.39394442A>T | CA352204746 | SLC25A38 | c.610A>T (p.Asn204Tyr) c.607A>T (p.Asn203Tyr) c.604A>T (p.Asn202Tyr) c.722-8A>T (n.722-8A>T) c.658A>T (p.Asn220Tyr) c.646A>T (p.Asn216Tyr) c.640A>T (p.Asn214Tyr) c.478A>T (p.Asn160Tyr) c.626-1956A>T (n.626-1956A>T) | |
| 3 | g.39394443A>C | CA352204757 | SLC25A38 | c.611A>C (p.Asn204Thr) c.608A>C (p.Asn203Thr) c.605A>C (p.Asn202Thr) c.722-7A>C (n.722-7A>C) c.659A>C (p.Asn220Thr) c.647A>C (p.Asn216Thr) c.641A>C (p.Asn214Thr) c.479A>C (p.Asn160Thr) c.626-1955A>C (n.626-1955A>C) | |
| 3 | g.39394443A>G | CA352204763 | SLC25A38 | c.611A>G (p.Asn204Ser) c.608A>G (p.Asn203Ser) c.605A>G (p.Asn202Ser) c.722-7A>G (n.722-7A>G) c.659A>G (p.Asn220Ser) c.647A>G (p.Asn216Ser) c.641A>G (p.Asn214Ser) c.479A>G (p.Asn160Ser) c.626-1955A>G (n.626-1955A>G) | |
| 3 | g.39394443A>T | CA352204766 | SLC25A38 | c.611A>T (p.Asn204Ile) c.608A>T (p.Asn203Ile) c.605A>T (p.Asn202Ile) c.722-7A>T (n.722-7A>T) c.659A>T (p.Asn220Ile) c.647A>T (p.Asn216Ile) c.641A>T (p.Asn214Ile) c.479A>T (p.Asn160Ile) c.626-1955A>T (n.626-1955A>T) | |
| 3 | g.39394444T>A | CA352204769 | SLC25A38 | c.612T>A (p.Asn204Lys) c.609T>A (p.Asn203Lys) c.606T>A (p.Asn202Lys) c.722-6T>A (n.722-6T>A) c.660T>A (p.Asn220Lys) c.648T>A (p.Asn216Lys) c.642T>A (p.Asn214Lys) c.480T>A (p.Asn160Lys) c.626-1954T>A (n.626-1954T>A) | |
| 3 | g.39394444T>C | CA433164292 | SLC25A38 | c.612T>C (p.Asn204=) c.609T>C (p.Asn203=) c.606T>C (p.Asn202=) c.722-6T>C (n.722-6T>C) c.660T>C (p.Asn220=) c.648T>C (p.Asn216=) c.642T>C (p.Asn214=) c.480T>C (p.Asn160=) c.626-1954T>C (n.626-1954T>C) | |
| 3 | g.39394444T>G | CA352204772 | SLC25A38 | c.612T>G (p.Asn204Lys) c.609T>G (p.Asn203Lys) c.606T>G (p.Asn202Lys) c.722-6T>G (n.722-6T>G) c.660T>G (p.Asn220Lys) c.648T>G (p.Asn216Lys) c.642T>G (p.Asn214Lys) c.480T>G (p.Asn160Lys) c.626-1954T>G (n.626-1954T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.39394444T= | CA1358939285 | SLC25A38 | c.612T= (p.Asn204=) c.609T= (p.Asn203=) c.606T= (p.Asn202=) c.722-6T= (n.722-6T=) c.660T= (p.Asn220=) c.648T= (p.Asn216=) c.642T= (p.Asn214=) c.480T= (p.Asn160=) c.626-1954T= (n.626-1954T=) | |
| 3 | g.39394445T>A | CA352204773 | SLC25A38 | c.613T>A (p.Phe205Ile) c.610T>A (p.Phe204Ile) c.607T>A (p.Phe203Ile) c.722-5T>A (n.722-5T>A) c.661T>A (p.Phe221Ile) c.649T>A (p.Phe217Ile) c.643T>A (p.Phe215Ile) c.481T>A (p.Phe161Ile) c.626-1953T>A (n.626-1953T>A) | |
| 3 | g.39394445T>C | CA2327528 | SLC25A38 | c.613T>C (p.Phe205Leu) c.610T>C (p.Phe204Leu) c.607T>C (p.Phe203Leu) c.722-5T>C (n.722-5T>C) c.661T>C (p.Phe221Leu) c.649T>C (p.Phe217Leu) c.643T>C (p.Phe215Leu) c.481T>C (p.Phe161Leu) c.626-1953T>C (n.626-1953T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.39394445T>G | CA352204778 | SLC25A38 | c.613T>G (p.Phe205Val) c.610T>G (p.Phe204Val) c.607T>G (p.Phe203Val) c.722-5T>G (n.722-5T>G) c.661T>G (p.Phe221Val) c.649T>G (p.Phe217Val) c.643T>G (p.Phe215Val) c.481T>G (p.Phe161Val) c.626-1953T>G (n.626-1953T>G) | |
| 3 | g.39394445T= | CA1358939286 | SLC25A38 | c.613T= (p.Phe205=) c.610T= (p.Phe204=) c.607T= (p.Phe203=) c.722-5T= (n.722-5T=) c.661T= (p.Phe221=) c.649T= (p.Phe217=) c.643T= (p.Phe215=) c.481T= (p.Phe161=) c.626-1953T= (n.626-1953T=) | |
| 3 | g.39394446T>A | CA352204781 | SLC25A38 | c.614T>A (p.Phe205Tyr) c.611T>A (p.Phe204Tyr) c.608T>A (p.Phe203Tyr) c.722-4T>A (n.722-4T>A) c.662T>A (p.Phe221Tyr) c.650T>A (p.Phe217Tyr) c.644T>A (p.Phe215Tyr) c.482T>A (p.Phe161Tyr) c.626-1952T>A (n.626-1952T>A) | |
| 3 | g.39394446T>C | CA73040716 | SLC25A38 | c.614T>C (p.Phe205Ser) c.611T>C (p.Phe204Ser) c.608T>C (p.Phe203Ser) c.722-4T>C (n.722-4T>C) c.662T>C (p.Phe221Ser) c.650T>C (p.Phe217Ser) c.644T>C (p.Phe215Ser) c.482T>C (p.Phe161Ser) c.626-1952T>C (n.626-1952T>C) | dbSNP |
| 3 | g.39394446T>G | CA352204785 | SLC25A38 | c.614T>G (p.Phe205Cys) c.611T>G (p.Phe204Cys) c.608T>G (p.Phe203Cys) c.722-4T>G (n.722-4T>G) c.662T>G (p.Phe221Cys) c.650T>G (p.Phe217Cys) c.644T>G (p.Phe215Cys) c.482T>G (p.Phe161Cys) c.626-1952T>G (n.626-1952T>G) | |
| 3 | g.39394446T= | CA1358939287 | SLC25A38 | c.614T= (p.Phe205=) c.611T= (p.Phe204=) c.608T= (p.Phe203=) c.722-4T= (n.722-4T=) c.662T= (p.Phe221=) c.650T= (p.Phe217=) c.644T= (p.Phe215=) c.482T= (p.Phe161=) c.626-1952T= (n.626-1952T=) | |
| 3 | g.39394447C>A | CA352204786 | SLC25A38 | c.615C>A (p.Phe205Leu) c.612C>A (p.Phe204Leu) c.609C>A (p.Phe203Leu) c.722-3C>A (n.722-3C>A) c.663C>A (p.Phe221Leu) c.651C>A (p.Phe217Leu) c.645C>A (p.Phe215Leu) c.483C>A (p.Phe161Leu) c.626-1951C>A (n.626-1951C>A) | |
| 3 | g.39394447C>G | CA352204789 | SLC25A38 | c.615C>G (p.Phe205Leu) c.612C>G (p.Phe204Leu) c.609C>G (p.Phe203Leu) c.722-3C>G (n.722-3C>G) c.663C>G (p.Phe221Leu) c.651C>G (p.Phe217Leu) c.645C>G (p.Phe215Leu) c.483C>G (p.Phe161Leu) c.626-1951C>G (n.626-1951C>G) | |
| 3 | g.39394447C>T | CA433164328 | SLC25A38 | c.615C>T (p.Phe205=) c.612C>T (p.Phe204=) c.609C>T (p.Phe203=) c.722-3C>T (n.722-3C>T) c.663C>T (p.Phe221=) c.651C>T (p.Phe217=) c.645C>T (p.Phe215=) c.483C>T (p.Phe161=) c.626-1951C>T (n.626-1951C>T) | |
| 3 | g.39394448A>C | CA352204796 | SLC25A38 | c.616A>C (p.Ser206Arg) c.613A>C (p.Ser205Arg) c.610A>C (p.Ser204Arg) c.722-2A>C (n.722-2A>C) c.664A>C (p.Ser222Arg) c.652A>C (p.Ser218Arg) c.646A>C (p.Ser216Arg) c.484A>C (p.Ser162Arg) c.626-1950A>C (n.626-1950A>C) | |
| 3 | g.39394448A>G | CA352204797 | SLC25A38 | c.616A>G (p.Ser206Gly) c.613A>G (p.Ser205Gly) c.610A>G (p.Ser204Gly) c.722-2A>G (n.722-2A>G) c.664A>G (p.Ser222Gly) c.652A>G (p.Ser218Gly) c.646A>G (p.Ser216Gly) c.484A>G (p.Ser162Gly) c.626-1950A>G (n.626-1950A>G) | |
| 3 | g.39394448A>T | CA352204794 | SLC25A38 | c.616A>T (p.Ser206Cys) c.613A>T (p.Ser205Cys) c.610A>T (p.Ser204Cys) c.722-2A>T (n.722-2A>T) c.664A>T (p.Ser222Cys) c.652A>T (p.Ser218Cys) c.646A>T (p.Ser216Cys) c.484A>T (p.Ser162Cys) c.626-1950A>T (n.626-1950A>T) | gnomAD v4 |
| 3 | g.39394448_39394462delinsAGCTGTGGGATATTT | CA1358939288 | SLC25A38 | c.616_630delinsAGCTGTGGGATATTT (p.Ser206=) c.613_627delinsAGCTGTGGGATATTT (p.Ser205=) c.610_624delinsAGCTGTGGGATATTT (p.Ser204=) c.722-2_734delinsAGCTGTGGGATATTT c.664_678delinsAGCTGTGGGATATTT (p.Ser222=) c.652_666delinsAGCTGTGGGATATTT (p.Ser218=) c.646_660delinsAGCTGTGGGATATTT (p.Ser216=) c.484_498delinsAGCTGTGGGATATTT (p.Ser162=) c.626-1950_626-1936delinsAGCTGTGGGATATTT (n.626-1950_626-1936delinsAGCTGTGGGATATTT) | |
| 3 | g.39394449G>A | CA352204798 | SLC25A38 | c.617G>A (p.Ser206Asn) c.614G>A (p.Ser205Asn) c.611G>A (p.Ser204Asn) c.722-1G>A (n.722-1G>A) c.665G>A (p.Ser222Asn) c.653G>A (p.Ser218Asn) c.647G>A (p.Ser216Asn) c.485G>A (p.Ser162Asn) c.626-1949G>A (n.626-1949G>A) | |
| 3 | g.39394449G>C | CA352204799 | SLC25A38 | c.617G>C (p.Ser206Thr) c.614G>C (p.Ser205Thr) c.611G>C (p.Ser204Thr) c.722-1G>C (n.722-1G>C) c.665G>C (p.Ser222Thr) c.653G>C (p.Ser218Thr) c.647G>C (p.Ser216Thr) c.485G>C (p.Ser162Thr) c.626-1949G>C (n.626-1949G>C) | |
| 3 | g.39394449G>T | CA352204801 | SLC25A38 | c.617G>T (p.Ser206Ile) c.614G>T (p.Ser205Ile) c.611G>T (p.Ser204Ile) c.722-1G>T (n.722-1G>T) c.665G>T (p.Ser222Ile) c.653G>T (p.Ser218Ile) c.647G>T (p.Ser216Ile) c.485G>T (p.Ser162Ile) c.626-1949G>T (n.626-1949G>T) | |
| 3 | g.39394453_39394466del | CA2327529 | SLC25A38 | c.621_634del (p.Cys207TrpfsTer?) c.618_631del (p.Cys206TrpfsTer?) c.615_628del (p.Cys205TrpfsTer?) c.725_738del c.669_682del (p.Cys223TrpfsTer?) c.657_670del (p.Cys219TrpfsTer?) c.651_664del (p.Cys217TrpfsTer?) c.489_502del (p.Cys163TrpfsTer?) c.626-1945_626-1932del (n.626-1945_626-1932del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394450C>A | CA352204807 | SLC25A38 | c.618C>A (p.Ser206Arg) c.615C>A (p.Ser205Arg) c.612C>A (p.Ser204Arg) c.722C>A (p.Ala241Asp) c.666C>A (p.Ser222Arg) c.654C>A (p.Ser218Arg) c.648C>A (p.Ser216Arg) c.486C>A (p.Ser162Arg) c.626-1948C>A (n.626-1948C>A) | |
| 3 | g.39394450C>G | CA352204809 | SLC25A38 | c.618C>G (p.Ser206Arg) c.615C>G (p.Ser205Arg) c.612C>G (p.Ser204Arg) c.722C>G (p.Ala241Gly) c.666C>G (p.Ser222Arg) c.654C>G (p.Ser218Arg) c.648C>G (p.Ser216Arg) c.486C>G (p.Ser162Arg) c.626-1948C>G (n.626-1948C>G) | |
| 3 | g.39394450C>T | CA433164351 | SLC25A38 | c.618C>T (p.Ser206=) c.615C>T (p.Ser205=) c.612C>T (p.Ser204=) c.722C>T (p.Ala241Val) c.666C>T (p.Ser222=) c.654C>T (p.Ser218=) c.648C>T (p.Ser216=) c.486C>T (p.Ser162=) c.626-1948C>T (n.626-1948C>T) | |
| 3 | g.39394451T>A | CA352204826 | SLC25A38 | c.619T>A (p.Cys207Ser) c.616T>A (p.Cys206Ser) c.613T>A (p.Cys205Ser) c.723T>A (p.Ala241=) c.667T>A (p.Cys223Ser) c.655T>A (p.Cys219Ser) c.649T>A (p.Cys217Ser) c.487T>A (p.Cys163Ser) c.626-1947T>A (n.626-1947T>A) | |
| 3 | g.39394451T>C | CA352204837 | SLC25A38 | c.619T>C (p.Cys207Arg) c.616T>C (p.Cys206Arg) c.613T>C (p.Cys205Arg) c.723T>C (p.Ala241=) c.667T>C (p.Cys223Arg) c.655T>C (p.Cys219Arg) c.649T>C (p.Cys217Arg) c.487T>C (p.Cys163Arg) c.626-1947T>C (n.626-1947T>C) | |
| 3 | g.39394451T>G | CA352204839 | SLC25A38 | c.619T>G (p.Cys207Gly) c.616T>G (p.Cys206Gly) c.613T>G (p.Cys205Gly) c.723T>G (p.Ala241=) c.667T>G (p.Cys223Gly) c.655T>G (p.Cys219Gly) c.649T>G (p.Cys217Gly) c.487T>G (p.Cys163Gly) c.626-1947T>G (n.626-1947T>G) | |
| 3 | g.39394452G>A | CA352204840 | SLC25A38 | c.620G>A (p.Cys207Tyr) c.617G>A (p.Cys206Tyr) c.614G>A (p.Cys205Tyr) c.724G>A (p.Val242Met) c.668G>A (p.Cys223Tyr) c.656G>A (p.Cys219Tyr) c.650G>A (p.Cys217Tyr) c.488G>A (p.Cys163Tyr) c.626-1946G>A (n.626-1946G>A) | gnomAD v4 |
| 3 | g.39394452G>C | CA352204842 | SLC25A38 | c.620G>C (p.Cys207Ser) c.617G>C (p.Cys206Ser) c.614G>C (p.Cys205Ser) c.724G>C (p.Val242Leu) c.668G>C (p.Cys223Ser) c.656G>C (p.Cys219Ser) c.650G>C (p.Cys217Ser) c.488G>C (p.Cys163Ser) c.626-1946G>C (n.626-1946G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.39394452G= | CA1358939289 | SLC25A38 | c.620G= (p.Cys207=) c.617G= (p.Cys206=) c.614G= (p.Cys205=) c.724G= (p.Val242=) c.668G= (p.Cys223=) c.656G= (p.Cys219=) c.650G= (p.Cys217=) c.488G= (p.Cys163=) c.626-1946G= (n.626-1946G=) | |
| 3 | g.39394452G>T | CA352204843 | SLC25A38 | c.620G>T (p.Cys207Phe) c.617G>T (p.Cys206Phe) c.614G>T (p.Cys205Phe) c.724G>T (p.Val242Leu) c.668G>T (p.Cys223Phe) c.656G>T (p.Cys219Phe) c.650G>T (p.Cys217Phe) c.488G>T (p.Cys163Phe) c.626-1946G>T (n.626-1946G>T) | |
| 3 | g.39394453T>A | CA352204850 | SLC25A38 | c.621T>A (p.Cys207Ter) c.618T>A (p.Cys206Ter) c.615T>A (p.Cys205Ter) c.725T>A (p.Val242Glu) c.669T>A (p.Cys223Ter) c.657T>A (p.Cys219Ter) c.651T>A (p.Cys217Ter) c.489T>A (p.Cys163Ter) c.626-1945T>A (n.626-1945T>A) | |
| 3 | g.39394453T>C | CA433164373 | SLC25A38 | c.621T>C (p.Cys207=) c.618T>C (p.Cys206=) c.615T>C (p.Cys205=) c.725T>C (p.Val242Ala) c.669T>C (p.Cys223=) c.657T>C (p.Cys219=) c.651T>C (p.Cys217=) c.489T>C (p.Cys163=) c.626-1945T>C (n.626-1945T>C) | |
| 3 | g.39394453T>G | CA352204846 | SLC25A38 | c.621T>G (p.Cys207Trp) c.618T>G (p.Cys206Trp) c.615T>G (p.Cys205Trp) c.725T>G (p.Val242Gly) c.669T>G (p.Cys223Trp) c.657T>G (p.Cys219Trp) c.651T>G (p.Cys217Trp) c.489T>G (p.Cys163Trp) c.626-1945T>G (n.626-1945T>G) | |
| 3 | g.39394454G>A | CA352204873 | SLC25A38 | c.622G>A (p.Gly208Arg) c.619G>A (p.Gly207Arg) c.616G>A (p.Gly206Arg) c.726G>A (p.Val242=) c.670G>A (p.Gly224Arg) c.658G>A (p.Gly220Arg) c.652G>A (p.Gly218Arg) c.490G>A (p.Gly164Arg) c.626-1944G>A (n.626-1944G>A) | gnomAD v4 |
| 3 | g.39394454G>C | CA352204876 | SLC25A38 | c.622G>C (p.Gly208Arg) c.619G>C (p.Gly207Arg) c.616G>C (p.Gly206Arg) c.726G>C (p.Val242=) c.670G>C (p.Gly224Arg) c.658G>C (p.Gly220Arg) c.652G>C (p.Gly218Arg) c.490G>C (p.Gly164Arg) c.626-1944G>C (n.626-1944G>C) | |
| 3 | g.39394454G>T | CA352204885 | SLC25A38 | c.622G>T (p.Gly208Trp) c.619G>T (p.Gly207Trp) c.616G>T (p.Gly206Trp) c.726G>T (p.Val242=) c.670G>T (p.Gly224Trp) c.658G>T (p.Gly220Trp) c.652G>T (p.Gly218Trp) c.490G>T (p.Gly164Trp) c.626-1944G>T (n.626-1944G>T) | |
| 3 | g.39394455G>A | CA352204888 | SLC25A38 | c.623G>A (p.Gly208Glu) c.620G>A (p.Gly207Glu) c.617G>A (p.Gly206Glu) c.727G>A (p.Gly243Arg) c.671G>A (p.Gly224Glu) c.659G>A (p.Gly220Glu) c.653G>A (p.Gly218Glu) c.491G>A (p.Gly164Glu) c.626-1943G>A (n.626-1943G>A) | |
| 3 | g.39394455G>C | CA352204891 | SLC25A38 | c.623G>C (p.Gly208Ala) c.620G>C (p.Gly207Ala) c.617G>C (p.Gly206Ala) c.727G>C (p.Gly243Arg) c.671G>C (p.Gly224Ala) c.659G>C (p.Gly220Ala) c.653G>C (p.Gly218Ala) c.491G>C (p.Gly164Ala) c.626-1943G>C (n.626-1943G>C) | gnomAD v4 |
| 3 | g.39394455G= | CA1358939290 | SLC25A38 | c.623G= (p.Gly208=) c.620G= (p.Gly207=) c.617G= (p.Gly206=) c.727G= (p.Gly243=) c.671G= (p.Gly224=) c.659G= (p.Gly220=) c.653G= (p.Gly218=) c.491G= (p.Gly164=) c.626-1943G= (n.626-1943G=) | |
| 3 | g.39394455G>T | CA352204894 | SLC25A38 | c.623G>T (p.Gly208Val) c.620G>T (p.Gly207Val) c.617G>T (p.Gly206Val) c.727G>T (p.Gly243Ter) c.671G>T (p.Gly224Val) c.659G>T (p.Gly220Val) c.653G>T (p.Gly218Val) c.491G>T (p.Gly164Val) c.626-1943G>T (n.626-1943G>T) | |
| 3 | g.39394455_39394456insT | CA915942371 | SLC25A38 | c.623_624insT (p.Ile209AspfsTer?) c.620_621insT (p.Ile208AspfsTer?) c.617_618insT (p.Ile207AspfsTer?) c.727_728insT (p.Gly243ValfsTer?) c.671_672insT (p.Ile225AspfsTer?) c.659_660insT (p.Ile221AspfsTer?) c.653_654insT (p.Ile219AspfsTer?) c.491_492insT (p.Ile165AspfsTer?) c.626-1943_626-1942insT (n.626-1943_626-1942insT) | ClinVar dbSNP |
| 3 | g.39394456G>A | CA433164393 | SLC25A38 | c.624G>A (p.Gly208=) c.621G>A (p.Gly207=) c.618G>A (p.Gly206=) c.728G>A (p.Gly243Glu) c.672G>A (p.Gly224=) c.660G>A (p.Gly220=) c.654G>A (p.Gly218=) c.492G>A (p.Gly164=) c.626-1942G>A (n.626-1942G>A) | |
| 3 | g.39394456G>C | CA433164394 | SLC25A38 | c.624G>C (p.Gly208=) c.621G>C (p.Gly207=) c.618G>C (p.Gly206=) c.728G>C (p.Gly243Ala) c.672G>C (p.Gly224=) c.660G>C (p.Gly220=) c.654G>C (p.Gly218=) c.492G>C (p.Gly164=) c.626-1942G>C (n.626-1942G>C) | |
| 3 | g.39394456G>T | CA433164395 | SLC25A38 | c.624G>T (p.Gly208=) c.621G>T (p.Gly207=) c.618G>T (p.Gly206=) c.728G>T (p.Gly243Val) c.672G>T (p.Gly224=) c.660G>T (p.Gly220=) c.654G>T (p.Gly218=) c.492G>T (p.Gly164=) c.626-1942G>T (n.626-1942G>T) | |
| 3 | g.39394456delinsTT | CA2499216773 | SLC25A38 | c.624delinsTT (p.Ile209TyrfsTer?) c.621delinsTT (p.Ile208TyrfsTer?) c.618delinsTT (p.Ile207TyrfsTer?) c.728delinsTT (p.Gly243ValfsTer?) c.672delinsTT (p.Ile225TyrfsTer?) c.660delinsTT (p.Ile221TyrfsTer?) c.654delinsTT (p.Ile219TyrfsTer?) c.492delinsTT (p.Ile165TyrfsTer?) c.626-1942delinsTT (n.626-1942delinsTT) | ClinVar dbSNP |
| 3 | g.39394457A>C | CA352204900 | SLC25A38 | c.625A>C (p.Ile209Leu) c.622A>C (p.Ile208Leu) c.619A>C (p.Ile207Leu) c.729A>C (p.Gly243=) c.673A>C (p.Ile225Leu) c.661A>C (p.Ile221Leu) c.655A>C (p.Ile219Leu) c.493A>C (p.Ile165Leu) c.626-1941A>C (n.626-1941A>C) | |
| 3 | g.39394457A>G | CA352204910 | SLC25A38 | c.625A>G (p.Ile209Val) c.622A>G (p.Ile208Val) c.619A>G (p.Ile207Val) c.729A>G (p.Gly243=) c.673A>G (p.Ile225Val) c.661A>G (p.Ile221Val) c.655A>G (p.Ile219Val) c.493A>G (p.Ile165Val) c.626-1941A>G (n.626-1941A>G) | gnomAD v4 |
| 3 | g.39394457A>T | CA352204912 | SLC25A38 | c.625A>T (p.Ile209Leu) c.622A>T (p.Ile208Leu) c.619A>T (p.Ile207Leu) c.729A>T (p.Gly243=) c.673A>T (p.Ile225Leu) c.661A>T (p.Ile221Leu) c.655A>T (p.Ile219Leu) c.493A>T (p.Ile165Leu) c.626-1941A>T (n.626-1941A>T) | |
| 3 | g.39394458T>A | CA352204917 | SLC25A38 | c.626T>A (p.Ile209Lys) c.623T>A (p.Ile208Lys) c.620T>A (p.Ile207Lys) c.730T>A (p.Tyr244Asn) c.674T>A (p.Ile225Lys) c.662T>A (p.Ile221Lys) c.656T>A (p.Ile219Lys) c.494T>A (p.Ile165Lys) c.626-1940T>A (n.626-1940T>A) | |
| 3 | g.39394458T>C | CA2327530 | SLC25A38 | c.626T>C (p.Ile209Thr) c.623T>C (p.Ile208Thr) c.620T>C (p.Ile207Thr) c.730T>C (p.Tyr244His) c.674T>C (p.Ile225Thr) c.662T>C (p.Ile221Thr) c.656T>C (p.Ile219Thr) c.494T>C (p.Ile165Thr) c.626-1940T>C (n.626-1940T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.39394458T>G | CA352204926 | SLC25A38 | c.626T>G (p.Ile209Arg) c.623T>G (p.Ile208Arg) c.620T>G (p.Ile207Arg) c.730T>G (p.Tyr244Asp) c.674T>G (p.Ile225Arg) c.662T>G (p.Ile221Arg) c.656T>G (p.Ile219Arg) c.494T>G (p.Ile165Arg) c.626-1940T>G (n.626-1940T>G) | |
| 3 | g.39394458T= | CA1358939291 | SLC25A38 | c.626T= (p.Ile209=) c.623T= (p.Ile208=) c.620T= (p.Ile207=) c.730T= (p.Tyr244=) c.674T= (p.Ile225=) c.662T= (p.Ile221=) c.656T= (p.Ile219=) c.494T= (p.Ile165=) c.626-1940T= (n.626-1940T=) | |
| 3 | g.39394459A>C | CA433164410 | SLC25A38 | c.627A>C (p.Ile209=) c.624A>C (p.Ile208=) c.621A>C (p.Ile207=) c.731A>C (p.Tyr244Ser) c.675A>C (p.Ile225=) c.663A>C (p.Ile221=) c.657A>C (p.Ile219=) c.495A>C (p.Ile165=) c.626-1939A>C (n.626-1939A>C) | |
| 3 | g.39394459A>G | CA352204929 | SLC25A38 | c.627A>G (p.Ile209Met) c.624A>G (p.Ile208Met) c.621A>G (p.Ile207Met) c.731A>G (p.Tyr244Cys) c.675A>G (p.Ile225Met) c.663A>G (p.Ile221Met) c.657A>G (p.Ile219Met) c.495A>G (p.Ile165Met) c.626-1939A>G (n.626-1939A>G) | |
| 3 | g.39394459A>T | CA433164413 | SLC25A38 | c.627A>T (p.Ile209=) c.624A>T (p.Ile208=) c.621A>T (p.Ile207=) c.731A>T (p.Tyr244Phe) c.675A>T (p.Ile225=) c.663A>T (p.Ile221=) c.657A>T (p.Ile219=) c.495A>T (p.Ile165=) c.626-1939A>T (n.626-1939A>T) | |
| 3 | g.39394460T>A | CA352204937 | SLC25A38 | c.628T>A (p.Phe210Ile) c.625T>A (p.Phe209Ile) c.622T>A (p.Phe208Ile) c.732T>A (p.Tyr244Ter) c.676T>A (p.Phe226Ile) c.664T>A (p.Phe222Ile) c.658T>A (p.Phe220Ile) c.496T>A (p.Phe166Ile) c.626-1938T>A (n.626-1938T>A) | |
| 3 | g.39394460T>C | CA352204942 | SLC25A38 | c.628T>C (p.Phe210Leu) c.625T>C (p.Phe209Leu) c.622T>C (p.Phe208Leu) c.732T>C (p.Tyr244=) c.676T>C (p.Phe226Leu) c.664T>C (p.Phe222Leu) c.658T>C (p.Phe220Leu) c.496T>C (p.Phe166Leu) c.626-1938T>C (n.626-1938T>C) | |
| 3 | g.39394460T>G | CA352204935 | SLC25A38 | c.628T>G (p.Phe210Val) c.625T>G (p.Phe209Val) c.622T>G (p.Phe208Val) c.732T>G (p.Tyr244Ter) c.676T>G (p.Phe226Val) c.664T>G (p.Phe222Val) c.658T>G (p.Phe220Val) c.496T>G (p.Phe166Val) c.626-1938T>G (n.626-1938T>G) | |
| 3 | g.39394461T>A | CA352204947 | SLC25A38 | c.629T>A (p.Phe210Tyr) c.626T>A (p.Phe209Tyr) c.623T>A (p.Phe208Tyr) c.733T>A (p.Leu245Met) c.677T>A (p.Phe226Tyr) c.665T>A (p.Phe222Tyr) c.659T>A (p.Phe220Tyr) c.497T>A (p.Phe166Tyr) c.626-1937T>A (n.626-1937T>A) | |
| 3 | g.39394461T>C | CA352204944 | SLC25A38 | c.629T>C (p.Phe210Ser) c.626T>C (p.Phe209Ser) c.623T>C (p.Phe208Ser) c.733T>C (p.Leu245=) c.677T>C (p.Phe226Ser) c.665T>C (p.Phe222Ser) c.659T>C (p.Phe220Ser) c.497T>C (p.Phe166Ser) c.626-1937T>C (n.626-1937T>C) | |
| 3 | g.39394461T>G | CA352204945 | SLC25A38 | c.629T>G (p.Phe210Cys) c.626T>G (p.Phe209Cys) c.623T>G (p.Phe208Cys) c.733T>G (p.Leu245Val) c.677T>G (p.Phe226Cys) c.665T>G (p.Phe222Cys) c.659T>G (p.Phe220Cys) c.497T>G (p.Phe166Cys) c.626-1937T>G (n.626-1937T>G) | |
| 3 | g.39394462T>A | CA352204950 | SLC25A38 | c.630T>A (p.Phe210Leu) c.627T>A (p.Phe209Leu) c.624T>A (p.Phe208Leu) c.734T>A (p.Leu245Ter) c.678T>A (p.Phe226Leu) c.666T>A (p.Phe222Leu) c.660T>A (p.Phe220Leu) c.498T>A (p.Phe166Leu) c.626-1936T>A (n.626-1936T>A) | |
| 3 | g.39394462T>C | CA433164431 | SLC25A38 | c.630T>C (p.Phe210=) c.627T>C (p.Phe209=) c.624T>C (p.Phe208=) c.734T>C (p.Leu245Ser) c.678T>C (p.Phe226=) c.666T>C (p.Phe222=) c.660T>C (p.Phe220=) c.498T>C (p.Phe166=) c.626-1936T>C (n.626-1936T>C) | |
| 3 | g.39394462T>G | CA352204954 | SLC25A38 | c.630T>G (p.Phe210Leu) c.627T>G (p.Phe209Leu) c.624T>G (p.Phe208Leu) c.734T>G (p.Leu245Trp) c.678T>G (p.Phe226Leu) c.666T>G (p.Phe222Leu) c.660T>G (p.Phe220Leu) c.498T>G (p.Phe166Leu) c.626-1936T>G (n.626-1936T>G) | |
| 3 | g.39394463G>A | CA2327531 | SLC25A38 | c.631G>A (p.Ala211Thr) c.628G>A (p.Ala210Thr) c.625G>A (p.Ala209Thr) c.735G>A (p.Leu245=) c.679G>A (p.Ala227Thr) c.667G>A (p.Ala223Thr) c.661G>A (p.Ala221Thr) c.499G>A (p.Ala167Thr) c.626-1935G>A (n.626-1935G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394463G>C | CA352204961 | SLC25A38 | c.631G>C (p.Ala211Pro) c.628G>C (p.Ala210Pro) c.625G>C (p.Ala209Pro) c.735G>C (p.Leu245Phe) c.679G>C (p.Ala227Pro) c.667G>C (p.Ala223Pro) c.661G>C (p.Ala221Pro) c.499G>C (p.Ala167Pro) c.626-1935G>C (n.626-1935G>C) | |
| 3 | g.39394463G= | CA1358939292 | SLC25A38 | c.631G= (p.Ala211=) c.628G= (p.Ala210=) c.625G= (p.Ala209=) c.735G= (p.Leu245=) c.679G= (p.Ala227=) c.667G= (p.Ala223=) c.661G= (p.Ala221=) c.499G= (p.Ala167=) c.626-1935G= (n.626-1935G=) | |
| 3 | g.39394463G>T | CA352204967 | SLC25A38 | c.631G>T (p.Ala211Ser) c.628G>T (p.Ala210Ser) c.625G>T (p.Ala209Ser) c.735G>T (p.Leu245Phe) c.679G>T (p.Ala227Ser) c.667G>T (p.Ala223Ser) c.661G>T (p.Ala221Ser) c.499G>T (p.Ala167Ser) c.626-1935G>T (n.626-1935G>T) | |
| 3 | g.39394464C>A | CA352204968 | SLC25A38 | c.632C>A (p.Ala211Asp) c.629C>A (p.Ala210Asp) c.626C>A (p.Ala209Asp) c.736C>A (p.Leu246Met) c.680C>A (p.Ala227Asp) c.668C>A (p.Ala223Asp) c.662C>A (p.Ala221Asp) c.500C>A (p.Ala167Asp) c.626-1934C>A (n.626-1934C>A) | |
| 3 | g.39394464C>G | CA352204969 | SLC25A38 | c.632C>G (p.Ala211Gly) c.629C>G (p.Ala210Gly) c.626C>G (p.Ala209Gly) c.736C>G (p.Leu246Val) c.680C>G (p.Ala227Gly) c.668C>G (p.Ala223Gly) c.662C>G (p.Ala221Gly) c.500C>G (p.Ala167Gly) c.626-1934C>G (n.626-1934C>G) | |
| 3 | g.39394464C>T | CA352204970 | SLC25A38 | c.632C>T (p.Ala211Val) c.629C>T (p.Ala210Val) c.626C>T (p.Ala209Val) c.736C>T (p.Leu246=) c.680C>T (p.Ala227Val) c.668C>T (p.Ala223Val) c.662C>T (p.Ala221Val) c.500C>T (p.Ala167Val) c.626-1934C>T (n.626-1934C>T) | gnomAD v4 |
| 3 | g.39394465T>A | CA433164445 | SLC25A38 | c.633T>A (p.Ala211=) c.630T>A (p.Ala210=) c.627T>A (p.Ala209=) c.737T>A (p.Leu246Gln) c.681T>A (p.Ala227=) c.669T>A (p.Ala223=) c.663T>A (p.Ala221=) c.501T>A (p.Ala167=) c.626-1933T>A (n.626-1933T>A) | |
| 3 | g.39394465T>C | CA433164446 | SLC25A38 | c.633T>C (p.Ala211=) c.630T>C (p.Ala210=) c.627T>C (p.Ala209=) c.737T>C (p.Leu246Pro) c.681T>C (p.Ala227=) c.669T>C (p.Ala223=) c.663T>C (p.Ala221=) c.501T>C (p.Ala167=) c.626-1933T>C (n.626-1933T>C) | |
| 3 | g.39394465T>G | CA433164447 | SLC25A38 | c.633T>G (p.Ala211=) c.630T>G (p.Ala210=) c.627T>G (p.Ala209=) c.737T>G (p.Leu246Arg) c.681T>G (p.Ala227=) c.669T>G (p.Ala223=) c.663T>G (p.Ala221=) c.501T>G (p.Ala167=) c.626-1933T>G (n.626-1933T>G) | |
| 3 | g.39394466G>A | CA352204971 | SLC25A38 | c.634G>A (p.Gly212Ser) c.631G>A (p.Gly211Ser) c.628G>A (p.Gly210Ser) c.738G>A (p.Leu246=) c.682G>A (p.Gly228Ser) c.670G>A (p.Gly224Ser) c.664G>A (p.Gly222Ser) c.502G>A (p.Gly168Ser) c.626-1932G>A (n.626-1932G>A) | dbSNP |
| 3 | g.39394466G>C | CA352204973 | SLC25A38 | c.634G>C (p.Gly212Arg) c.631G>C (p.Gly211Arg) c.628G>C (p.Gly210Arg) c.738G>C (p.Leu246=) c.682G>C (p.Gly228Arg) c.670G>C (p.Gly224Arg) c.664G>C (p.Gly222Arg) c.502G>C (p.Gly168Arg) c.626-1932G>C (n.626-1932G>C) | |
| 3 | g.39394466G= | CA1358939293 | SLC25A38 | c.634G= (p.Gly212=) c.631G= (p.Gly211=) c.628G= (p.Gly210=) c.738G= (p.Leu246=) c.682G= (p.Gly228=) c.670G= (p.Gly224=) c.664G= (p.Gly222=) c.502G= (p.Gly168=) c.626-1932G= (n.626-1932G=) | |
| 3 | g.39394466G>T | CA352204976 | SLC25A38 | c.634G>T (p.Gly212Cys) c.631G>T (p.Gly211Cys) c.628G>T (p.Gly210Cys) c.738G>T (p.Leu246=) c.682G>T (p.Gly228Cys) c.670G>T (p.Gly224Cys) c.664G>T (p.Gly222Cys) c.502G>T (p.Gly168Cys) c.626-1932G>T (n.626-1932G>T) | |
| 3 | g.39394467G>A | CA352204992 | SLC25A38 | c.635G>A (p.Gly212Asp) c.632G>A (p.Gly211Asp) c.629G>A (p.Gly210Asp) c.739G>A (p.Val247Ile) c.683G>A (p.Gly228Asp) c.671G>A (p.Gly224Asp) c.665G>A (p.Gly222Asp) c.503G>A (p.Gly168Asp) c.626-1931G>A (n.626-1931G>A) | |
| 3 | g.39394467G>C | CA352204981 | SLC25A38 | c.635G>C (p.Gly212Ala) c.632G>C (p.Gly211Ala) c.629G>C (p.Gly210Ala) c.739G>C (p.Val247Leu) c.683G>C (p.Gly228Ala) c.671G>C (p.Gly224Ala) c.665G>C (p.Gly222Ala) c.503G>C (p.Gly168Ala) c.626-1931G>C (n.626-1931G>C) | |
| 3 | g.39394467G= | CA1358939294 | SLC25A38 | c.635G= (p.Gly212=) c.632G= (p.Gly211=) c.629G= (p.Gly210=) c.739G= (p.Val247=) c.683G= (p.Gly228=) c.671G= (p.Gly224=) c.665G= (p.Gly222=) c.503G= (p.Gly168=) c.626-1931G= (n.626-1931G=) | |
| 3 | g.39394467G>T | CA2327532 | SLC25A38 | c.635G>T (p.Gly212Val) c.632G>T (p.Gly211Val) c.629G>T (p.Gly210Val) c.739G>T (p.Val247Leu) c.683G>T (p.Gly228Val) c.671G>T (p.Gly224Val) c.665G>T (p.Gly222Val) c.503G>T (p.Gly168Val) c.626-1931G>T (n.626-1931G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394468T>A | CA433164463 | SLC25A38 | c.636T>A (p.Gly212=) c.633T>A (p.Gly211=) c.630T>A (p.Gly210=) c.740T>A (p.Val247Glu) c.684T>A (p.Gly228=) c.672T>A (p.Gly224=) c.666T>A (p.Gly222=) c.504T>A (p.Gly168=) c.626-1930T>A (n.626-1930T>A) | |
| 3 | g.39394468T>C | CA433164466 | SLC25A38 | c.636T>C (p.Gly212=) c.633T>C (p.Gly211=) c.630T>C (p.Gly210=) c.740T>C (p.Val247Ala) c.684T>C (p.Gly228=) c.672T>C (p.Gly224=) c.666T>C (p.Gly222=) c.504T>C (p.Gly168=) c.626-1930T>C (n.626-1930T>C) | dbSNP |
| 3 | g.39394468T>G | CA433164467 | SLC25A38 | c.636T>G (p.Gly212=) c.633T>G (p.Gly211=) c.630T>G (p.Gly210=) c.740T>G (p.Val247Gly) c.684T>G (p.Gly228=) c.672T>G (p.Gly224=) c.666T>G (p.Gly222=) c.504T>G (p.Gly168=) c.626-1930T>G (n.626-1930T>G) | |
| 3 | g.39394468T= | CA1358939295 | SLC25A38 | c.636T= (p.Gly212=) c.633T= (p.Gly211=) c.630T= (p.Gly210=) c.740T= (p.Val247=) c.684T= (p.Gly228=) c.672T= (p.Gly224=) c.666T= (p.Gly222=) c.504T= (p.Gly168=) c.626-1930T= (n.626-1930T=) | |
| 3 | g.39394469A>C | CA352204995 | SLC25A38 | c.637A>C (p.Ile213Leu) c.634A>C (p.Ile212Leu) c.631A>C (p.Ile211Leu) c.741A>C (p.Val247=) c.685A>C (p.Ile229Leu) c.673A>C (p.Ile225Leu) c.667A>C (p.Ile223Leu) c.505A>C (p.Ile169Leu) c.626-1929A>C (n.626-1929A>C) | |
| 3 | g.39394469A>G | CA352205002 | SLC25A38 | c.637A>G (p.Ile213Val) c.634A>G (p.Ile212Val) c.631A>G (p.Ile211Val) c.741A>G (p.Val247=) c.685A>G (p.Ile229Val) c.673A>G (p.Ile225Val) c.667A>G (p.Ile223Val) c.505A>G (p.Ile169Val) c.626-1929A>G (n.626-1929A>G) | gnomAD v4 |
| 3 | g.39394469A>T | CA352205006 | SLC25A38 | c.637A>T (p.Ile213Phe) c.634A>T (p.Ile212Phe) c.631A>T (p.Ile211Phe) c.741A>T (p.Val247=) c.685A>T (p.Ile229Phe) c.673A>T (p.Ile225Phe) c.667A>T (p.Ile223Phe) c.505A>T (p.Ile169Phe) c.626-1929A>T (n.626-1929A>T) | |
| 3 | g.39394470T>A | CA352205011 | SLC25A38 | c.638T>A (p.Ile213Asn) c.635T>A (p.Ile212Asn) c.632T>A (p.Ile211Asn) c.742T>A (p.Phe248Ile) c.686T>A (p.Ile229Asn) c.674T>A (p.Ile225Asn) c.668T>A (p.Ile223Asn) c.506T>A (p.Ile169Asn) c.626-1928T>A (n.626-1928T>A) | |
| 3 | g.39394470T>C | CA352205013 | SLC25A38 | c.638T>C (p.Ile213Thr) c.635T>C (p.Ile212Thr) c.632T>C (p.Ile211Thr) c.742T>C (p.Phe248Leu) c.686T>C (p.Ile229Thr) c.674T>C (p.Ile225Thr) c.668T>C (p.Ile223Thr) c.506T>C (p.Ile169Thr) c.626-1928T>C (n.626-1928T>C) | |
| 3 | g.39394470T>G | CA352205015 | SLC25A38 | c.638T>G (p.Ile213Ser) c.635T>G (p.Ile212Ser) c.632T>G (p.Ile211Ser) c.742T>G (p.Phe248Val) c.686T>G (p.Ile229Ser) c.674T>G (p.Ile225Ser) c.668T>G (p.Ile223Ser) c.506T>G (p.Ile169Ser) c.626-1928T>G (n.626-1928T>G) | |
| 3 | g.39394471T>A | CA433164484 | SLC25A38 | c.639T>A (p.Ile213=) c.636T>A (p.Ile212=) c.633T>A (p.Ile211=) c.743T>A (p.Phe248Tyr) c.687T>A (p.Ile229=) c.675T>A (p.Ile225=) c.669T>A (p.Ile223=) c.507T>A (p.Ile169=) c.626-1927T>A (n.626-1927T>A) | |
| 3 | g.39394471T>C | CA433164481 | SLC25A38 | c.639T>C (p.Ile213=) c.636T>C (p.Ile212=) c.633T>C (p.Ile211=) c.743T>C (p.Phe248Ser) c.687T>C (p.Ile229=) c.675T>C (p.Ile225=) c.669T>C (p.Ile223=) c.507T>C (p.Ile169=) c.626-1927T>C (n.626-1927T>C) | |
| 3 | g.39394471T>G | CA352205017 | SLC25A38 | c.639T>G (p.Ile213Met) c.636T>G (p.Ile212Met) c.633T>G (p.Ile211Met) c.743T>G (p.Phe248Cys) c.687T>G (p.Ile229Met) c.675T>G (p.Ile225Met) c.669T>G (p.Ile223Met) c.507T>G (p.Ile169Met) c.626-1927T>G (n.626-1927T>G) | |
| 3 | g.39394472C>A | CA352205021 | SLC25A38 | c.640C>A (p.Leu214Met) c.637C>A (p.Leu213Met) c.634C>A (p.Leu212Met) c.744C>A (p.Phe248Leu) c.688C>A (p.Leu230Met) c.676C>A (p.Leu226Met) c.670C>A (p.Leu224Met) c.508C>A (p.Leu170Met) c.626-1926C>A (n.626-1926C>A) | |
| 3 | g.39394472C= | CA1358939296 | SLC25A38 | c.640C= (p.Leu214=) c.637C= (p.Leu213=) c.634C= (p.Leu212=) c.744C= (p.Phe248=) c.688C= (p.Leu230=) c.676C= (p.Leu226=) c.670C= (p.Leu224=) c.508C= (p.Leu170=) c.626-1926C= (n.626-1926C=) | |
| 3 | g.39394472C>G | CA352205025 | SLC25A38 | c.640C>G (p.Leu214Val) c.637C>G (p.Leu213Val) c.634C>G (p.Leu212Val) c.744C>G (p.Phe248Leu) c.688C>G (p.Leu230Val) c.676C>G (p.Leu226Val) c.670C>G (p.Leu224Val) c.508C>G (p.Leu170Val) c.626-1926C>G (n.626-1926C>G) | |
| 3 | g.39394472C>T | CA2327533 | SLC25A38 | c.640C>T (p.Leu214=) c.637C>T (p.Leu213=) c.634C>T (p.Leu212=) c.744C>T (p.Phe248=) c.688C>T (p.Leu230=) c.676C>T (p.Leu226=) c.670C>T (p.Leu224=) c.508C>T (p.Leu170=) c.626-1926C>T (n.626-1926C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.39394473T>A | CA352205041 | SLC25A38 | c.641T>A (p.Leu214Gln) c.638T>A (p.Leu213Gln) c.635T>A (p.Leu212Gln) c.745T>A (p.Trp249Arg) c.689T>A (p.Leu230Gln) c.677T>A (p.Leu226Gln) c.671T>A (p.Leu224Gln) c.509T>A (p.Leu170Gln) c.626-1925T>A (n.626-1925T>A) | |
| 3 | g.39394473T>C | CA352205044 | SLC25A38 | c.641T>C (p.Leu214Pro) c.638T>C (p.Leu213Pro) c.635T>C (p.Leu212Pro) c.745T>C (p.Trp249Arg) c.689T>C (p.Leu230Pro) c.677T>C (p.Leu226Pro) c.671T>C (p.Leu224Pro) c.509T>C (p.Leu170Pro) c.626-1925T>C (n.626-1925T>C) | ClinVar dbSNP |
| 3 | g.39394473T>G | CA352205047 | SLC25A38 | c.641T>G (p.Leu214Arg) c.638T>G (p.Leu213Arg) c.635T>G (p.Leu212Arg) c.745T>G (p.Trp249Gly) c.689T>G (p.Leu230Arg) c.677T>G (p.Leu226Arg) c.671T>G (p.Leu224Arg) c.509T>G (p.Leu170Arg) c.626-1925T>G (n.626-1925T>G) | |
| 3 | g.39394473_39394474delinsTG | CA1358939297 | SLC25A38 | c.641_642delinsTG (p.Leu214=) c.638_639delinsTG (p.Leu213=) c.635_636delinsTG (p.Leu212=) c.745_746delinsTG (p.Trp249=) c.689_690delinsTG (p.Leu230=) c.677_678delinsTG (p.Leu226=) c.671_672delinsTG (p.Leu224=) c.509_510delinsTG (p.Leu170=) c.626-1925_626-1924delinsTG (n.626-1925_626-1924delinsTG) | |
| 3 | g.39394474G>A | CA433164501 | SLC25A38 | c.642G>A (p.Leu214=) c.639G>A (p.Leu213=) c.636G>A (p.Leu212=) c.746G>A (p.Trp249Ter) c.690G>A (p.Leu230=) c.678G>A (p.Leu226=) c.672G>A (p.Leu224=) c.510G>A (p.Leu170=) c.626-1924G>A (n.626-1924G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.39394474G>C | CA433164504 | SLC25A38 | c.642G>C (p.Leu214=) c.639G>C (p.Leu213=) c.636G>C (p.Leu212=) c.746G>C (p.Trp249Ser) c.690G>C (p.Leu230=) c.678G>C (p.Leu226=) c.672G>C (p.Leu224=) c.510G>C (p.Leu170=) c.626-1924G>C (n.626-1924G>C) | dbSNP gnomAD v4 |
| 3 | g.39394474G= | CA1358939298 | SLC25A38 | c.642G= (p.Leu214=) c.639G= (p.Leu213=) c.636G= (p.Leu212=) c.746G= (p.Trp249=) c.690G= (p.Leu230=) c.678G= (p.Leu226=) c.672G= (p.Leu224=) c.510G= (p.Leu170=) c.626-1924G= (n.626-1924G=) | |
| 3 | g.39394474G>T | CA433164507 | SLC25A38 | c.642G>T (p.Leu214=) c.639G>T (p.Leu213=) c.636G>T (p.Leu212=) c.746G>T (p.Trp249Leu) c.690G>T (p.Leu230=) c.678G>T (p.Leu226=) c.672G>T (p.Leu224=) c.510G>T (p.Leu170=) c.626-1924G>T (n.626-1924G>T) | |
| 3 | g.39394475del | CA542617040 | SLC25A38 | c.643del (p.Ala215ProfsTer4) c.640del (p.Ala214ProfsTer4) c.637del (p.Ala213ProfsTer4) c.747del (p.Trp249CysfsTer?) c.691del (p.Ala231ProfsTer4) c.679del (p.Ala227ProfsTer4) c.673del (p.Ala225ProfsTer4) c.511del (p.Ala171ProfsTer4) c.626-1923del (n.626-1923del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.39394475G>A | CA352205052 | SLC25A38 | c.643G>A (p.Ala215Thr) c.640G>A (p.Ala214Thr) c.637G>A (p.Ala213Thr) c.747G>A (p.Trp249Ter) c.691G>A (p.Ala231Thr) c.679G>A (p.Ala227Thr) c.673G>A (p.Ala225Thr) c.511G>A (p.Ala171Thr) c.626-1923G>A (n.626-1923G>A) | |
| 3 | g.39394475G>C | CA352205055 | SLC25A38 | c.643G>C (p.Ala215Pro) c.640G>C (p.Ala214Pro) c.637G>C (p.Ala213Pro) c.747G>C (p.Trp249Cys) c.691G>C (p.Ala231Pro) c.679G>C (p.Ala227Pro) c.673G>C (p.Ala225Pro) c.511G>C (p.Ala171Pro) c.626-1923G>C (n.626-1923G>C) | |
| 3 | g.39394475G>T | CA352205049 | SLC25A38 | c.643G>T (p.Ala215Ser) c.640G>T (p.Ala214Ser) c.637G>T (p.Ala213Ser) c.747G>T (p.Trp249Cys) c.691G>T (p.Ala231Ser) c.679G>T (p.Ala227Ser) c.673G>T (p.Ala225Ser) c.511G>T (p.Ala171Ser) c.626-1923G>T (n.626-1923G>T) | |
| 3 | g.39394476C>A | CA352205061 | SLC25A38 | c.644C>A (p.Ala215Asp) c.641C>A (p.Ala214Asp) c.638C>A (p.Ala213Asp) c.748C>A (p.Pro250Thr) c.692C>A (p.Ala231Asp) c.680C>A (p.Ala227Asp) c.674C>A (p.Ala225Asp) c.512C>A (p.Ala171Asp) c.626-1922C>A (n.626-1922C>A) | |
| 3 | g.39394476C>G | CA352205062 | SLC25A38 | c.644C>G (p.Ala215Gly) c.641C>G (p.Ala214Gly) c.638C>G (p.Ala213Gly) c.748C>G (p.Pro250Ala) c.692C>G (p.Ala231Gly) c.680C>G (p.Ala227Gly) c.674C>G (p.Ala225Gly) c.512C>G (p.Ala171Gly) c.626-1922C>G (n.626-1922C>G) | |
| 3 | g.39394476C>T | CA352205063 | SLC25A38 | c.644C>T (p.Ala215Val) c.641C>T (p.Ala214Val) c.638C>T (p.Ala213Val) c.748C>T (p.Pro250Ser) c.692C>T (p.Ala231Val) c.680C>T (p.Ala227Val) c.674C>T (p.Ala225Val) c.512C>T (p.Ala171Val) c.626-1922C>T (n.626-1922C>T) | |
| 3 | g.39394477C>A | CA433164521 | SLC25A38 | c.645C>A (p.Ala215=) c.642C>A (p.Ala214=) c.639C>A (p.Ala213=) c.749C>A (p.Pro250His) c.693C>A (p.Ala231=) c.681C>A (p.Ala227=) c.675C>A (p.Ala225=) c.513C>A (p.Ala171=) c.626-1921C>A (n.626-1921C>A) | |
| 3 | g.39394477C>G | CA433164524 | SLC25A38 | c.645C>G (p.Ala215=) c.642C>G (p.Ala214=) c.639C>G (p.Ala213=) c.749C>G (p.Pro250Arg) c.693C>G (p.Ala231=) c.681C>G (p.Ala227=) c.675C>G (p.Ala225=) c.513C>G (p.Ala171=) c.626-1921C>G (n.626-1921C>G) | |
| 3 | g.39394477C>T | CA433164527 | SLC25A38 | c.645C>T (p.Ala215=) c.642C>T (p.Ala214=) c.639C>T (p.Ala213=) c.749C>T (p.Pro250Leu) c.693C>T (p.Ala231=) c.681C>T (p.Ala227=) c.675C>T (p.Ala225=) c.513C>T (p.Ala171=) c.626-1921C>T (n.626-1921C>T) | |
| 3 | g.39394478T>A | CA352205064 | SLC25A38 | c.646T>A (p.Ser216Thr) c.643T>A (p.Ser215Thr) c.640T>A (p.Ser214Thr) c.750T>A (p.Pro250=) c.694T>A (p.Ser232Thr) c.682T>A (p.Ser228Thr) c.676T>A (p.Ser226Thr) c.514T>A (p.Ser172Thr) c.626-1920T>A (n.626-1920T>A) | |
| 3 | g.39394478T>C | CA352205065 | SLC25A38 | c.646T>C (p.Ser216Pro) c.643T>C (p.Ser215Pro) c.640T>C (p.Ser214Pro) c.750T>C (p.Pro250=) c.694T>C (p.Ser232Pro) c.682T>C (p.Ser228Pro) c.676T>C (p.Ser226Pro) c.514T>C (p.Ser172Pro) c.626-1920T>C (n.626-1920T>C) | |
| 3 | g.39394478T>G | CA352205066 | SLC25A38 | c.646T>G (p.Ser216Ala) c.643T>G (p.Ser215Ala) c.640T>G (p.Ser214Ala) c.750T>G (p.Pro250=) c.694T>G (p.Ser232Ala) c.682T>G (p.Ser228Ala) c.676T>G (p.Ser226Ala) c.514T>G (p.Ser172Ala) c.626-1920T>G (n.626-1920T>G) | |
| 3 | g.39394479C>A | CA352205070 | SLC25A38 | c.647C>A (p.Ser216Ter) c.644C>A (p.Ser215Ter) c.641C>A (p.Ser214Ter) c.751C>A (p.His251Asn) c.695C>A (p.Ser232Ter) c.683C>A (p.Ser228Ter) c.677C>A (p.Ser226Ter) c.515C>A (p.Ser172Ter) c.626-1919C>A (n.626-1919C>A) | |
| 3 | g.39394479C>G | CA352205074 | SLC25A38 | c.647C>G (p.Ser216Ter) c.644C>G (p.Ser215Ter) c.641C>G (p.Ser214Ter) c.751C>G (p.His251Asp) c.695C>G (p.Ser232Ter) c.683C>G (p.Ser228Ter) c.677C>G (p.Ser226Ter) c.515C>G (p.Ser172Ter) c.626-1919C>G (n.626-1919C>G) | |
| 3 | g.39394479C>T | CA352205078 | SLC25A38 | c.647C>T (p.Ser216Leu) c.644C>T (p.Ser215Leu) c.641C>T (p.Ser214Leu) c.751C>T (p.His251Tyr) c.695C>T (p.Ser232Leu) c.683C>T (p.Ser228Leu) c.677C>T (p.Ser226Leu) c.515C>T (p.Ser172Leu) c.626-1919C>T (n.626-1919C>T) | |
| 3 | g.39394480A>C | CA433164545 | SLC25A38 | c.648A>C (p.Ser216=) c.645A>C (p.Ser215=) c.642A>C (p.Ser214=) c.752A>C (p.His251Pro) c.696A>C (p.Ser232=) c.684A>C (p.Ser228=) c.678A>C (p.Ser226=) c.516A>C (p.Ser172=) c.626-1918A>C (n.626-1918A>C) | |
| 3 | g.39394480A>G | CA433164546 | SLC25A38 | c.648A>G (p.Ser216=) c.645A>G (p.Ser215=) c.642A>G (p.Ser214=) c.752A>G (p.His251Arg) c.696A>G (p.Ser232=) c.684A>G (p.Ser228=) c.678A>G (p.Ser226=) c.516A>G (p.Ser172=) c.626-1918A>G (n.626-1918A>G) | |
| 3 | g.39394480A>T | CA433164547 | SLC25A38 | c.648A>T (p.Ser216=) c.645A>T (p.Ser215=) c.642A>T (p.Ser214=) c.752A>T (p.His251Leu) c.696A>T (p.Ser232=) c.684A>T (p.Ser228=) c.678A>T (p.Ser226=) c.516A>T (p.Ser172=) c.626-1918A>T (n.626-1918A>T) | |
| 3 | g.39394481C>A | CA352205093 | SLC25A38 | c.649C>A (p.Leu217Met) c.646C>A (p.Leu216Met) c.643C>A (p.Leu215Met) c.753C>A (p.His251Gln) c.697C>A (p.Leu233Met) c.685C>A (p.Leu229Met) c.679C>A (p.Leu227Met) c.517C>A (p.Leu173Met) c.626-1917C>A (n.626-1917C>A) | |
| 3 | g.39394481C>G | CA352205095 | SLC25A38 | c.649C>G (p.Leu217Val) c.646C>G (p.Leu216Val) c.643C>G (p.Leu215Val) c.753C>G (p.His251Gln) c.697C>G (p.Leu233Val) c.685C>G (p.Leu229Val) c.679C>G (p.Leu227Val) c.517C>G (p.Leu173Val) c.626-1917C>G (n.626-1917C>G) | |
| 3 | g.39394481C>T | CA433164551 | SLC25A38 | c.649C>T (p.Leu217=) c.646C>T (p.Leu216=) c.643C>T (p.Leu215=) c.753C>T (p.His251=) c.697C>T (p.Leu233=) c.685C>T (p.Leu229=) c.679C>T (p.Leu227=) c.517C>T (p.Leu173=) c.626-1917C>T (n.626-1917C>T) | gnomAD v4 |
| 3 | g.39394482T>A | CA352205103 | SLC25A38 | c.650T>A (p.Leu217Gln) c.647T>A (p.Leu216Gln) c.644T>A (p.Leu215Gln) c.754T>A (p.Trp252Arg) c.698T>A (p.Leu233Gln) c.686T>A (p.Leu229Gln) c.680T>A (p.Leu227Gln) c.518T>A (p.Leu173Gln) c.626-1916T>A (n.626-1916T>A) | |
| 3 | g.39394482T>C | CA352205101 | SLC25A38 | c.650T>C (p.Leu217Pro) c.647T>C (p.Leu216Pro) c.644T>C (p.Leu215Pro) c.754T>C (p.Trp252Arg) c.698T>C (p.Leu233Pro) c.686T>C (p.Leu229Pro) c.680T>C (p.Leu227Pro) c.518T>C (p.Leu173Pro) c.626-1916T>C (n.626-1916T>C) | |
| 3 | g.39394482T>G | CA352205099 | SLC25A38 | c.650T>G (p.Leu217Arg) c.647T>G (p.Leu216Arg) c.644T>G (p.Leu215Arg) c.754T>G (p.Trp252Gly) c.698T>G (p.Leu233Arg) c.686T>G (p.Leu229Arg) c.680T>G (p.Leu227Arg) c.518T>G (p.Leu173Arg) c.626-1916T>G (n.626-1916T>G) | |
| 3 | g.39394483G>A | CA433164565 | SLC25A38 | c.651G>A (p.Leu217=) c.648G>A (p.Leu216=) c.645G>A (p.Leu215=) c.755G>A (p.Trp252Ter) c.699G>A (p.Leu233=) c.687G>A (p.Leu229=) c.681G>A (p.Leu227=) c.519G>A (p.Leu173=) c.626-1915G>A (n.626-1915G>A) | |
| 3 | g.39394483G>C | CA433164567 | SLC25A38 | c.651G>C (p.Leu217=) c.648G>C (p.Leu216=) c.645G>C (p.Leu215=) c.755G>C (p.Trp252Ser) c.699G>C (p.Leu233=) c.687G>C (p.Leu229=) c.681G>C (p.Leu227=) c.519G>C (p.Leu173=) c.626-1915G>C (n.626-1915G>C) | |
| 3 | g.39394483G>T | CA433164569 | SLC25A38 | c.651G>T (p.Leu217=) c.648G>T (p.Leu216=) c.645G>T (p.Leu215=) c.755G>T (p.Trp252Leu) c.699G>T (p.Leu233=) c.687G>T (p.Leu229=) c.681G>T (p.Leu227=) c.519G>T (p.Leu173=) c.626-1915G>T (n.626-1915G>T) | |
| 3 | g.39394484G>A | CA352205105 | SLC25A38 | c.652G>A (p.Val218Ile) c.649G>A (p.Val217Ile) c.646G>A (p.Val216Ile) c.756G>A (p.Trp252Ter) c.700G>A (p.Val234Ile) c.688G>A (p.Val230Ile) c.682G>A (p.Val228Ile) c.520G>A (p.Val174Ile) c.626-1914G>A (n.626-1914G>A) | |
| 3 | g.39394484G>C | CA352205107 | SLC25A38 | c.652G>C (p.Val218Leu) c.649G>C (p.Val217Leu) c.646G>C (p.Val216Leu) c.756G>C (p.Trp252Cys) c.700G>C (p.Val234Leu) c.688G>C (p.Val230Leu) c.682G>C (p.Val228Leu) c.520G>C (p.Val174Leu) c.626-1914G>C (n.626-1914G>C) | |
| 3 | g.39394484G>T | CA352205111 | SLC25A38 | c.652G>T (p.Val218Leu) c.649G>T (p.Val217Leu) c.646G>T (p.Val216Leu) c.756G>T (p.Trp252Cys) c.700G>T (p.Val234Leu) c.688G>T (p.Val230Leu) c.682G>T (p.Val228Leu) c.520G>T (p.Val174Leu) c.626-1914G>T (n.626-1914G>T) | |
| 3 | g.39394485T>A | CA352205116 | SLC25A38 | c.653T>A (p.Val218Glu) c.650T>A (p.Val217Glu) c.647T>A (p.Val216Glu) c.757T>A (p.Ter253Lys) c.701T>A (p.Val234Glu) c.689T>A (p.Val230Glu) c.683T>A (p.Val228Glu) c.521T>A (p.Val174Glu) c.626-1913T>A (n.626-1913T>A) | |
| 3 | g.39394485T>C | CA352205120 | SLC25A38 | c.653T>C (p.Val218Ala) c.650T>C (p.Val217Ala) c.647T>C (p.Val216Ala) c.757T>C (p.Ter253Gln) c.701T>C (p.Val234Ala) c.689T>C (p.Val230Ala) c.683T>C (p.Val228Ala) c.521T>C (p.Val174Ala) c.626-1913T>C (n.626-1913T>C) | |
| 3 | g.39394485T>G | CA352205121 | SLC25A38 | c.653T>G (p.Val218Gly) c.650T>G (p.Val217Gly) c.647T>G (p.Val216Gly) c.757T>G (p.Ter253Glu) c.701T>G (p.Val234Gly) c.689T>G (p.Val230Gly) c.683T>G (p.Val228Gly) c.521T>G (p.Val174Gly) c.626-1913T>G (n.626-1913T>G) | |
| 3 | g.39394486A= | CA1358939299 | SLC25A38 | c.654A= (p.Val218=) c.651A= (p.Val217=) c.648A= (p.Val216=) c.758A= (p.Ter253=) c.702A= (p.Val234=) c.690A= (p.Val230=) c.684A= (p.Val228=) c.522A= (p.Val174=) c.626-1912A= (n.626-1912A=) | |
| 3 | g.39394486A>C | CA433164586 | SLC25A38 | c.654A>C (p.Val218=) c.651A>C (p.Val217=) c.648A>C (p.Val216=) c.758A>C (p.Ter253Ser) c.702A>C (p.Val234=) c.690A>C (p.Val230=) c.684A>C (p.Val228=) c.522A>C (p.Val174=) c.626-1912A>C (n.626-1912A>C) | |
| 3 | g.39394486A>G | CA73040721 | SLC25A38 | c.654A>G (p.Val218=) c.651A>G (p.Val217=) c.648A>G (p.Val216=) c.758A>G (p.Ter253=) c.702A>G (p.Val234=) c.690A>G (p.Val230=) c.684A>G (p.Val228=) c.522A>G (p.Val174=) c.626-1912A>G (n.626-1912A>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.39394486A>T | CA433164593 | SLC25A38 | c.654A>T (p.Val218=) c.651A>T (p.Val217=) c.648A>T (p.Val216=) c.758A>T (p.Ter253Leu) c.702A>T (p.Val234=) c.690A>T (p.Val230=) c.684A>T (p.Val228=) c.522A>T (p.Val174=) c.626-1912A>T (n.626-1912A>T) | |
| 3 | g.39394487A>C | CA352205122 | SLC25A38 | c.655A>C (p.Thr219Pro) c.652A>C (p.Thr218Pro) c.649A>C (p.Thr217Pro) c.759A>C (p.Ter253Tyr) c.703A>C (p.Thr235Pro) c.691A>C (p.Thr231Pro) c.685A>C (p.Thr229Pro) c.523A>C (p.Thr175Pro) c.626-1911A>C (n.626-1911A>C) | |
| 3 | g.39394487A>G | CA352205124 | SLC25A38 | c.655A>G (p.Thr219Ala) c.652A>G (p.Thr218Ala) c.649A>G (p.Thr217Ala) c.759A>G (p.Ter253=) c.703A>G (p.Thr235Ala) c.691A>G (p.Thr231Ala) c.685A>G (p.Thr229Ala) c.523A>G (p.Thr175Ala) c.626-1911A>G (n.626-1911A>G) | gnomAD v4 |
| 3 | g.39394487A>T | CA352205127 | SLC25A38 | c.655A>T (p.Thr219Ser) c.652A>T (p.Thr218Ser) c.649A>T (p.Thr217Ser) c.759A>T (p.Ter253Tyr) c.703A>T (p.Thr235Ser) c.691A>T (p.Thr231Ser) c.685A>T (p.Thr229Ser) c.523A>T (p.Thr175Ser) c.626-1911A>T (n.626-1911A>T) | |
| 3 | g.39394488C>A | CA352205130 | SLC25A38 | c.656C>A (p.Thr219Asn) c.653C>A (p.Thr218Asn) c.650C>A (p.Thr217Asn) c.*1C>A (n.*1C>A) c.704C>A (p.Thr235Asn) c.692C>A (p.Thr231Asn) c.686C>A (p.Thr229Asn) c.524C>A (p.Thr175Asn) c.626-1910C>A (n.626-1910C>A) | |
| 3 | g.39394488C>G | CA352205145 | SLC25A38 | c.656C>G (p.Thr219Ser) c.653C>G (p.Thr218Ser) c.650C>G (p.Thr217Ser) c.*1C>G (n.*1C>G) c.704C>G (p.Thr235Ser) c.692C>G (p.Thr231Ser) c.686C>G (p.Thr229Ser) c.524C>G (p.Thr175Ser) c.626-1910C>G (n.626-1910C>G) | |
| 3 | g.39394488C>T | CA352205147 | SLC25A38 | c.656C>T (p.Thr219Ile) c.653C>T (p.Thr218Ile) c.650C>T (p.Thr217Ile) c.*1C>T (n.*1C>T) c.704C>T (p.Thr235Ile) c.692C>T (p.Thr231Ile) c.686C>T (p.Thr229Ile) c.524C>T (p.Thr175Ile) c.626-1910C>T (n.626-1910C>T) | |
| 3 | g.39394489T>A | CA433164604 | SLC25A38 | c.657T>A (p.Thr219=) c.654T>A (p.Thr218=) c.651T>A (p.Thr217=) c.*2T>A (n.*2T>A) c.705T>A (p.Thr235=) c.693T>A (p.Thr231=) c.687T>A (p.Thr229=) c.525T>A (p.Thr175=) c.626-1909T>A (n.626-1909T>A) | |
| 3 | g.39394489T>C | CA433164607 | SLC25A38 | c.657T>C (p.Thr219=) c.654T>C (p.Thr218=) c.651T>C (p.Thr217=) c.*2T>C (n.*2T>C) c.705T>C (p.Thr235=) c.693T>C (p.Thr231=) c.687T>C (p.Thr229=) c.525T>C (p.Thr175=) c.626-1909T>C (n.626-1909T>C) | |
| 3 | g.39394489T>G | CA433164610 | SLC25A38 | c.657T>G (p.Thr219=) c.654T>G (p.Thr218=) c.651T>G (p.Thr217=) c.*2T>G (n.*2T>G) c.705T>G (p.Thr235=) c.693T>G (p.Thr231=) c.687T>G (p.Thr229=) c.525T>G (p.Thr175=) c.626-1909T>G (n.626-1909T>G) | |
| 3 | g.39394490C>A | CA352205152 | SLC25A38 | c.658C>A (p.Gln220Lys) c.655C>A (p.Gln219Lys) c.652C>A (p.Gln218Lys) c.*3C>A (n.*3C>A) c.706C>A (p.Gln236Lys) c.694C>A (p.Gln232Lys) c.688C>A (p.Gln230Lys) c.526C>A (p.Gln176Lys) c.626-1908C>A (n.626-1908C>A) | |
| 3 | g.39394490C= | CA1358939300 | SLC25A38 | c.658C= (p.Gln220=) c.655C= (p.Gln219=) c.652C= (p.Gln218=) c.*3C= (n.*3C=) c.706C= (p.Gln236=) c.694C= (p.Gln232=) c.688C= (p.Gln230=) c.526C= (p.Gln176=) c.626-1908C= (n.626-1908C=) | |
| 3 | g.39394490C>G | CA352205154 | SLC25A38 | c.658C>G (p.Gln220Glu) c.655C>G (p.Gln219Glu) c.652C>G (p.Gln218Glu) c.*3C>G (n.*3C>G) c.706C>G (p.Gln236Glu) c.694C>G (p.Gln232Glu) c.688C>G (p.Gln230Glu) c.526C>G (p.Gln176Glu) c.626-1908C>G (n.626-1908C>G) | |
| 3 | g.39394490C>T | CA2327534 | SLC25A38 | c.658C>T (p.Gln220Ter) c.655C>T (p.Gln219Ter) c.652C>T (p.Gln218Ter) c.*3C>T (n.*3C>T) c.706C>T (p.Gln236Ter) c.694C>T (p.Gln232Ter) c.688C>T (p.Gln230Ter) c.526C>T (p.Gln176Ter) c.626-1908C>T (n.626-1908C>T) | dbSNP ExAC gnomAD v2 |
| 3 | g.39394491A>C | CA352205157 | SLC25A38 | c.659A>C (p.Gln220Pro) c.656A>C (p.Gln219Pro) c.653A>C (p.Gln218Pro) c.*4A>C (n.*4A>C) c.707A>C (p.Gln236Pro) c.695A>C (p.Gln232Pro) c.689A>C (p.Gln230Pro) c.527A>C (p.Gln176Pro) c.626-1907A>C (n.626-1907A>C) | |
| 3 | g.39394491A>G | CA352205155 | SLC25A38 | c.659A>G (p.Gln220Arg) c.656A>G (p.Gln219Arg) c.653A>G (p.Gln218Arg) c.*4A>G (n.*4A>G) c.707A>G (p.Gln236Arg) c.695A>G (p.Gln232Arg) c.689A>G (p.Gln230Arg) c.527A>G (p.Gln176Arg) c.626-1907A>G (n.626-1907A>G) | |
| 3 | g.39394491A>T | CA352205156 | SLC25A38 | c.659A>T (p.Gln220Leu) c.656A>T (p.Gln219Leu) c.653A>T (p.Gln218Leu) c.*4A>T (n.*4A>T) c.707A>T (p.Gln236Leu) c.695A>T (p.Gln232Leu) c.689A>T (p.Gln230Leu) c.527A>T (p.Gln176Leu) c.626-1907A>T (n.626-1907A>T) | |
| 3 | g.39394492A>C | CA352205161 | SLC25A38 | c.660A>C (p.Gln220His) c.657A>C (p.Gln219His) c.654A>C (p.Gln218His) c.*5A>C (n.*5A>C) c.708A>C (p.Gln236His) c.696A>C (p.Gln232His) c.690A>C (p.Gln230His) c.528A>C (p.Gln176His) c.626-1906A>C (n.626-1906A>C) | |
| 3 | g.39394492A>G | CA433164633 | SLC25A38 | c.660A>G (p.Gln220=) c.657A>G (p.Gln219=) c.654A>G (p.Gln218=) c.*5A>G (n.*5A>G) c.708A>G (p.Gln236=) c.696A>G (p.Gln232=) c.690A>G (p.Gln230=) c.528A>G (p.Gln176=) c.626-1906A>G (n.626-1906A>G) | |
| 3 | g.39394492A>T | CA352205163 | SLC25A38 | c.660A>T (p.Gln220His) c.657A>T (p.Gln219His) c.654A>T (p.Gln218His) c.*5A>T (n.*5A>T) c.708A>T (p.Gln236His) c.696A>T (p.Gln232His) c.690A>T (p.Gln230His) c.528A>T (p.Gln176His) c.626-1906A>T (n.626-1906A>T) | |
| 3 | g.39394493C>A | CA352205167 | SLC25A38 | c.661C>A (p.Pro221Thr) c.658C>A (p.Pro220Thr) c.655C>A (p.Pro219Thr) c.*6C>A (n.*6C>A) c.709C>A (p.Pro237Thr) c.697C>A (p.Pro233Thr) c.691C>A (p.Pro231Thr) c.529C>A (p.Pro177Thr) c.626-1905C>A (n.626-1905C>A) | dbSNP |
| 3 | g.39394493C= | CA1358939301 | SLC25A38 | c.661C= (p.Pro221=) c.658C= (p.Pro220=) c.655C= (p.Pro219=) c.*6C= (n.*6C=) c.709C= (p.Pro237=) c.697C= (p.Pro233=) c.691C= (p.Pro231=) c.529C= (p.Pro177=) c.626-1905C= (n.626-1905C=) | |
| 3 | g.39394493C>G | CA352205176 | SLC25A38 | c.661C>G (p.Pro221Ala) c.658C>G (p.Pro220Ala) c.655C>G (p.Pro219Ala) c.*6C>G (n.*6C>G) c.709C>G (p.Pro237Ala) c.697C>G (p.Pro233Ala) c.691C>G (p.Pro231Ala) c.529C>G (p.Pro177Ala) c.626-1905C>G (n.626-1905C>G) | |
| 3 | g.39394493C>T | CA352205185 | SLC25A38 | c.661C>T (p.Pro221Ser) c.658C>T (p.Pro220Ser) c.655C>T (p.Pro219Ser) c.*6C>T (n.*6C>T) c.709C>T (p.Pro237Ser) c.697C>T (p.Pro233Ser) c.691C>T (p.Pro231Ser) c.529C>T (p.Pro177Ser) c.626-1905C>T (n.626-1905C>T) | dbSNP |
| 3 | g.39394494C>A | CA352205209 | SLC25A38 | c.662C>A (p.Pro221His) c.659C>A (p.Pro220His) c.656C>A (p.Pro219His) c.*7C>A (n.*7C>A) c.710C>A (p.Pro237His) c.698C>A (p.Pro233His) c.692C>A (p.Pro231His) c.530C>A (p.Pro177His) c.626-1904C>A (n.626-1904C>A) | |
| 3 | g.39394494C>G | CA352205211 | SLC25A38 | c.662C>G (p.Pro221Arg) c.659C>G (p.Pro220Arg) c.656C>G (p.Pro219Arg) c.*7C>G (n.*7C>G) c.710C>G (p.Pro237Arg) c.698C>G (p.Pro233Arg) c.692C>G (p.Pro231Arg) c.530C>G (p.Pro177Arg) c.626-1904C>G (n.626-1904C>G) | |
| 3 | g.39394494C>T | CA352205215 | SLC25A38 | c.662C>T (p.Pro221Leu) c.659C>T (p.Pro220Leu) c.656C>T (p.Pro219Leu) c.*7C>T (n.*7C>T) c.710C>T (p.Pro237Leu) c.698C>T (p.Pro233Leu) c.692C>T (p.Pro231Leu) c.530C>T (p.Pro177Leu) c.626-1904C>T (n.626-1904C>T) | |
| 3 | g.39394495T>A | CA433164659 | SLC25A38 | c.663T>A (p.Pro221=) c.660T>A (p.Pro220=) c.657T>A (p.Pro219=) c.*8T>A (n.*8T>A) c.711T>A (p.Pro237=) c.699T>A (p.Pro233=) c.693T>A (p.Pro231=) c.531T>A (p.Pro177=) c.626-1903T>A (n.626-1903T>A) | gnomAD v4 |
| 3 | g.39394495T>C | CA433164652 | SLC25A38 | c.663T>C (p.Pro221=) c.660T>C (p.Pro220=) c.657T>C (p.Pro219=) c.*8T>C (n.*8T>C) c.711T>C (p.Pro237=) c.699T>C (p.Pro233=) c.693T>C (p.Pro231=) c.531T>C (p.Pro177=) c.626-1903T>C (n.626-1903T>C) | |
| 3 | g.39394495T>G | CA433164657 | SLC25A38 | c.663T>G (p.Pro221=) c.660T>G (p.Pro220=) c.657T>G (p.Pro219=) c.*8T>G (n.*8T>G) c.711T>G (p.Pro237=) c.699T>G (p.Pro233=) c.693T>G (p.Pro231=) c.531T>G (p.Pro177=) c.626-1903T>G (n.626-1903T>G) |