Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.39394532_39394533delinsCT | CA1358939318 | SLC25A38 | c.700_701delinsCT (p.Leu234=) c.697_698delinsCT (p.Leu233=) c.694_695delinsCT (p.Leu232=) c.*45_*46delinsCT (n.*45_*46delinsCT) c.748_749delinsCT (p.Leu250=) c.736_737delinsCT (p.Leu246=) c.730_731delinsCT (p.Leu244=) c.568_569delinsCT (p.Leu190=) c.626-1866_626-1865delinsCT (n.626-1866_626-1865delinsCT) | |
3 | g.39394533del | CA913102802 | SLC25A38 | c.701del (p.Leu234ArgfsTer10) c.698del (p.Leu233ArgfsTer10) c.695del (p.Leu232ArgfsTer10) c.*46del (n.*46del) c.749del (p.Leu250ArgfsTer10) c.737del (p.Leu246ArgfsTer10) c.731del (p.Leu244ArgfsTer10) c.569del (p.Leu190ArgfsTer10) c.626-1865del (n.626-1865del) | dbSNP gnomAD v4 |
3 | g.39394533T>A | CA352205489 | SLC25A38 | c.701T>A (p.Leu234Gln) c.698T>A (p.Leu233Gln) c.695T>A (p.Leu232Gln) c.*46T>A (n.*46T>A) c.749T>A (p.Leu250Gln) c.737T>A (p.Leu246Gln) c.731T>A (p.Leu244Gln) c.569T>A (p.Leu190Gln) c.626-1865T>A (n.626-1865T>A) | |
3 | g.39394533T>C | CA352205497 | SLC25A38 | c.701T>C (p.Leu234Pro) c.698T>C (p.Leu233Pro) c.695T>C (p.Leu232Pro) c.*46T>C (n.*46T>C) c.749T>C (p.Leu250Pro) c.737T>C (p.Leu246Pro) c.731T>C (p.Leu244Pro) c.569T>C (p.Leu190Pro) c.626-1865T>C (n.626-1865T>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.39394533T>G | CA352205492 | SLC25A38 | c.701T>G (p.Leu234Arg) c.698T>G (p.Leu233Arg) c.695T>G (p.Leu232Arg) c.*46T>G (n.*46T>G) c.749T>G (p.Leu250Arg) c.737T>G (p.Leu246Arg) c.731T>G (p.Leu244Arg) c.569T>G (p.Leu190Arg) c.626-1865T>G (n.626-1865T>G) | |
3 | g.39394533T= | CA1358939319 | SLC25A38 | c.701T= (p.Leu234=) c.698T= (p.Leu233=) c.695T= (p.Leu232=) c.*46T= (n.*46T=) c.749T= (p.Leu250=) c.737T= (p.Leu246=) c.731T= (p.Leu244=) c.569T= (p.Leu190=) c.626-1865T= (n.626-1865T=) | |
3 | g.39394534G>A | CA433164851 | SLC25A38 | c.702G>A (p.Leu234=) c.699G>A (p.Leu233=) c.696G>A (p.Leu232=) c.*47G>A (n.*47G>A) c.750G>A (p.Leu250=) c.738G>A (p.Leu246=) c.732G>A (p.Leu244=) c.570G>A (p.Leu190=) c.626-1864G>A (n.626-1864G>A) | gnomAD v4 |
3 | g.39394534G>C | CA433164849 | SLC25A38 | c.702G>C (p.Leu234=) c.699G>C (p.Leu233=) c.696G>C (p.Leu232=) c.*47G>C (n.*47G>C) c.750G>C (p.Leu250=) c.738G>C (p.Leu246=) c.732G>C (p.Leu244=) c.570G>C (p.Leu190=) c.626-1864G>C (n.626-1864G>C) | |
3 | g.39394534G>T | CA433164848 | SLC25A38 | c.702G>T (p.Leu234=) c.699G>T (p.Leu233=) c.696G>T (p.Leu232=) c.*47G>T (n.*47G>T) c.750G>T (p.Leu250=) c.738G>T (p.Leu246=) c.732G>T (p.Leu244=) c.570G>T (p.Leu190=) c.626-1864G>T (n.626-1864G>T) | |
3 | g.39394535A>C | CA352205502 | SLC25A38 | c.703A>C (p.Lys235Gln) c.700A>C (p.Lys234Gln) c.697A>C (p.Lys233Gln) c.*48A>C (n.*48A>C) c.751A>C (p.Lys251Gln) c.739A>C (p.Lys247Gln) c.733A>C (p.Lys245Gln) c.571A>C (p.Lys191Gln) c.626-1863A>C (n.626-1863A>C) | |
3 | g.39394535A>G | CA352205504 | SLC25A38 | c.703A>G (p.Lys235Glu) c.700A>G (p.Lys234Glu) c.697A>G (p.Lys233Glu) c.*48A>G (n.*48A>G) c.751A>G (p.Lys251Glu) c.739A>G (p.Lys247Glu) c.733A>G (p.Lys245Glu) c.571A>G (p.Lys191Glu) c.626-1863A>G (n.626-1863A>G) | |
3 | g.39394535A>T | CA352205505 | SLC25A38 | c.703A>T (p.Lys235Ter) c.700A>T (p.Lys234Ter) c.697A>T (p.Lys233Ter) c.*48A>T (n.*48A>T) c.751A>T (p.Lys251Ter) c.739A>T (p.Lys247Ter) c.733A>T (p.Lys245Ter) c.571A>T (p.Lys191Ter) c.626-1863A>T (n.626-1863A>T) | |
3 | g.39394536A= | CA1358939320 | SLC25A38 | c.704A= (p.Lys235=) c.701A= (p.Lys234=) c.698A= (p.Lys233=) c.*49A= (n.*49A=) c.752A= (p.Lys251=) c.740A= (p.Lys247=) c.734A= (p.Lys245=) c.572A= (p.Lys191=) c.626-1862A= (n.626-1862A=) | |
3 | g.39394536A>C | CA352205506 | SLC25A38 | c.704A>C (p.Lys235Thr) c.701A>C (p.Lys234Thr) c.698A>C (p.Lys233Thr) c.*49A>C (n.*49A>C) c.752A>C (p.Lys251Thr) c.740A>C (p.Lys247Thr) c.734A>C (p.Lys245Thr) c.572A>C (p.Lys191Thr) c.626-1862A>C (n.626-1862A>C) | |
3 | g.39394536A>G | CA2327541 | SLC25A38 | c.704A>G (p.Lys235Arg) c.701A>G (p.Lys234Arg) c.698A>G (p.Lys233Arg) c.*49A>G (n.*49A>G) c.752A>G (p.Lys251Arg) c.740A>G (p.Lys247Arg) c.734A>G (p.Lys245Arg) c.572A>G (p.Lys191Arg) c.626-1862A>G (n.626-1862A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39394536A>T | CA352205508 | SLC25A38 | c.704A>T (p.Lys235Met) c.701A>T (p.Lys234Met) c.698A>T (p.Lys233Met) c.*49A>T (n.*49A>T) c.752A>T (p.Lys251Met) c.740A>T (p.Lys247Met) c.734A>T (p.Lys245Met) c.572A>T (p.Lys191Met) c.626-1862A>T (n.626-1862A>T) | |
3 | g.39394537G>A | CA433164858 | SLC25A38 | c.705G>A (p.Lys235=) c.702G>A (p.Lys234=) c.699G>A (p.Lys233=) c.*50G>A (n.*50G>A) c.753G>A (p.Lys251=) c.741G>A (p.Lys247=) c.735G>A (p.Lys245=) c.573G>A (p.Lys191=) c.626-1861G>A (n.626-1861G>A) | |
3 | g.39394537G>C | CA352205513 | SLC25A38 | c.705G>C (p.Lys235Asn) c.702G>C (p.Lys234Asn) c.699G>C (p.Lys233Asn) c.*50G>C (n.*50G>C) c.753G>C (p.Lys251Asn) c.741G>C (p.Lys247Asn) c.735G>C (p.Lys245Asn) c.573G>C (p.Lys191Asn) c.626-1861G>C (n.626-1861G>C) | |
3 | g.39394537G>T | CA352205518 | SLC25A38 | c.705G>T (p.Lys235Asn) c.702G>T (p.Lys234Asn) c.699G>T (p.Lys233Asn) c.*50G>T (n.*50G>T) c.753G>T (p.Lys251Asn) c.741G>T (p.Lys247Asn) c.735G>T (p.Lys245Asn) c.573G>T (p.Lys191Asn) c.626-1861G>T (n.626-1861G>T) | |
3 | g.39394538T>A | CA352205519 | SLC25A38 | c.706T>A (p.Phe236Ile) c.703T>A (p.Phe235Ile) c.700T>A (p.Phe234Ile) c.*51T>A (n.*51T>A) c.754T>A (p.Phe252Ile) c.742T>A (p.Phe248Ile) c.736T>A (p.Phe246Ile) c.574T>A (p.Phe192Ile) c.626-1860T>A (n.626-1860T>A) | |
3 | g.39394538T>C | CA352205522 | SLC25A38 | c.706T>C (p.Phe236Leu) c.703T>C (p.Phe235Leu) c.700T>C (p.Phe234Leu) c.*51T>C (n.*51T>C) c.754T>C (p.Phe252Leu) c.742T>C (p.Phe248Leu) c.736T>C (p.Phe246Leu) c.574T>C (p.Phe192Leu) c.626-1860T>C (n.626-1860T>C) | |
3 | g.39394538T>G | CA352205539 | SLC25A38 | c.706T>G (p.Phe236Val) c.703T>G (p.Phe235Val) c.700T>G (p.Phe234Val) c.*51T>G (n.*51T>G) c.754T>G (p.Phe252Val) c.742T>G (p.Phe248Val) c.736T>G (p.Phe246Val) c.574T>G (p.Phe192Val) c.626-1860T>G (n.626-1860T>G) | |
3 | g.39394539T>A | CA352205546 | SLC25A38 | c.707T>A (p.Phe236Tyr) c.704T>A (p.Phe235Tyr) c.701T>A (p.Phe234Tyr) c.*52T>A (n.*52T>A) c.755T>A (p.Phe252Tyr) c.743T>A (p.Phe248Tyr) c.737T>A (p.Phe246Tyr) c.575T>A (p.Phe192Tyr) c.626-1859T>A (n.626-1859T>A) | |
3 | g.39394539T>C | CA352205542 | SLC25A38 | c.707T>C (p.Phe236Ser) c.704T>C (p.Phe235Ser) c.701T>C (p.Phe234Ser) c.*52T>C (n.*52T>C) c.755T>C (p.Phe252Ser) c.743T>C (p.Phe248Ser) c.737T>C (p.Phe246Ser) c.575T>C (p.Phe192Ser) c.626-1859T>C (n.626-1859T>C) | |
3 | g.39394539T>G | CA352205545 | SLC25A38 | c.707T>G (p.Phe236Cys) c.704T>G (p.Phe235Cys) c.701T>G (p.Phe234Cys) c.*52T>G (n.*52T>G) c.755T>G (p.Phe252Cys) c.743T>G (p.Phe248Cys) c.737T>G (p.Phe246Cys) c.575T>G (p.Phe192Cys) c.626-1859T>G (n.626-1859T>G) | |
3 | g.39394540T>A | CA352205547 | SLC25A38 | c.708T>A (p.Phe236Leu) c.705T>A (p.Phe235Leu) c.702T>A (p.Phe234Leu) c.*53T>A (n.*53T>A) c.756T>A (p.Phe252Leu) c.744T>A (p.Phe248Leu) c.738T>A (p.Phe246Leu) c.576T>A (p.Phe192Leu) c.626-1858T>A (n.626-1858T>A) | |
3 | g.39394540T>C | CA433164870 | SLC25A38 | c.708T>C (p.Phe236=) c.705T>C (p.Phe235=) c.702T>C (p.Phe234=) c.*53T>C (n.*53T>C) c.756T>C (p.Phe252=) c.744T>C (p.Phe248=) c.738T>C (p.Phe246=) c.576T>C (p.Phe192=) c.626-1858T>C (n.626-1858T>C) | |
3 | g.39394540T>G | CA352205549 | SLC25A38 | c.708T>G (p.Phe236Leu) c.705T>G (p.Phe235Leu) c.702T>G (p.Phe234Leu) c.*53T>G (n.*53T>G) c.756T>G (p.Phe252Leu) c.744T>G (p.Phe248Leu) c.738T>G (p.Phe246Leu) c.576T>G (p.Phe192Leu) c.626-1858T>G (n.626-1858T>G) | |
3 | g.39394541C>A | CA352205552 | SLC25A38 | c.709C>A (p.Gln237Lys) c.706C>A (p.Gln236Lys) c.703C>A (p.Gln235Lys) c.*54C>A (n.*54C>A) c.757C>A (p.Gln253Lys) c.745C>A (p.Gln249Lys) c.739C>A (p.Gln247Lys) c.577C>A (p.Gln193Lys) c.626-1857C>A (n.626-1857C>A) | |
3 | g.39394541C= | CA1358939321 | SLC25A38 | c.709C= (p.Gln237=) c.706C= (p.Gln236=) c.703C= (p.Gln235=) c.*54C= (n.*54C=) c.757C= (p.Gln253=) c.745C= (p.Gln249=) c.739C= (p.Gln247=) c.577C= (p.Gln193=) c.626-1857C= (n.626-1857C=) | |
3 | g.39394541C>G | CA352205559 | SLC25A38 | c.709C>G (p.Gln237Glu) c.706C>G (p.Gln236Glu) c.703C>G (p.Gln235Glu) c.*54C>G (n.*54C>G) c.757C>G (p.Gln253Glu) c.745C>G (p.Gln249Glu) c.739C>G (p.Gln247Glu) c.577C>G (p.Gln193Glu) c.626-1857C>G (n.626-1857C>G) | |
3 | g.39394541C>T | CA352205563 | SLC25A38 | c.709C>T (p.Gln237Ter) c.706C>T (p.Gln236Ter) c.703C>T (p.Gln235Ter) c.*54C>T (n.*54C>T) c.757C>T (p.Gln253Ter) c.745C>T (p.Gln249Ter) c.739C>T (p.Gln247Ter) c.577C>T (p.Gln193Ter) c.626-1857C>T (n.626-1857C>T) | dbSNP gnomAD v4 |
3 | g.39394542A>C | CA352205577 | SLC25A38 | c.710A>C (p.Gln237Pro) c.707A>C (p.Gln236Pro) c.704A>C (p.Gln235Pro) c.*55A>C (n.*55A>C) c.758A>C (p.Gln253Pro) c.746A>C (p.Gln249Pro) c.740A>C (p.Gln247Pro) c.578A>C (p.Gln193Pro) c.626-1856A>C (n.626-1856A>C) | |
3 | g.39394542A>G | CA352205581 | SLC25A38 | c.710A>G (p.Gln237Arg) c.707A>G (p.Gln236Arg) c.704A>G (p.Gln235Arg) c.*55A>G (n.*55A>G) c.758A>G (p.Gln253Arg) c.746A>G (p.Gln249Arg) c.740A>G (p.Gln247Arg) c.578A>G (p.Gln193Arg) c.626-1856A>G (n.626-1856A>G) | |
3 | g.39394542A>T | CA352205584 | SLC25A38 | c.710A>T (p.Gln237Leu) c.707A>T (p.Gln236Leu) c.704A>T (p.Gln235Leu) c.*55A>T (n.*55A>T) c.758A>T (p.Gln253Leu) c.746A>T (p.Gln249Leu) c.740A>T (p.Gln247Leu) c.578A>T (p.Gln193Leu) c.626-1856A>T (n.626-1856A>T) | |
3 | g.39394543A= | CA1358939322 | SLC25A38 | c.711A= (p.Gln237=) c.708A= (p.Gln236=) c.705A= (p.Gln235=) c.*56A= (n.*56A=) c.759A= (p.Gln253=) c.747A= (p.Gln249=) c.741A= (p.Gln247=) c.579A= (p.Gln193=) c.626-1855A= (n.626-1855A=) | |
3 | g.39394543A>C | CA352205589 | SLC25A38 | c.711A>C (p.Gln237His) c.708A>C (p.Gln236His) c.705A>C (p.Gln235His) c.*56A>C (n.*56A>C) c.759A>C (p.Gln253His) c.747A>C (p.Gln249His) c.741A>C (p.Gln247His) c.579A>C (p.Gln193His) c.626-1855A>C (n.626-1855A>C) | |
3 | g.39394543A>G | CA2327542 | SLC25A38 | c.711A>G (p.Gln237=) c.708A>G (p.Gln236=) c.705A>G (p.Gln235=) c.*56A>G (n.*56A>G) c.759A>G (p.Gln253=) c.747A>G (p.Gln249=) c.741A>G (p.Gln247=) c.579A>G (p.Gln193=) c.626-1855A>G (n.626-1855A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39394543A>T | CA352205598 | SLC25A38 | c.711A>T (p.Gln237His) c.708A>T (p.Gln236His) c.705A>T (p.Gln235His) c.*56A>T (n.*56A>T) c.759A>T (p.Gln253His) c.747A>T (p.Gln249His) c.741A>T (p.Gln247His) c.579A>T (p.Gln193His) c.626-1855A>T (n.626-1855A>T) | |
3 | g.39394544T>A | CA352205611 | SLC25A38 | c.712T>A (p.Trp238Arg) c.709T>A (p.Trp237Arg) c.706T>A (p.Trp236Arg) c.*57T>A (n.*57T>A) c.760T>A (p.Trp254Arg) c.748T>A (p.Trp250Arg) c.742T>A (p.Trp248Arg) c.580T>A (p.Trp194Arg) c.626-1854T>A (n.626-1854T>A) | |
3 | g.39394544T>C | CA2327543 | SLC25A38 | c.712T>C (p.Trp238Arg) c.709T>C (p.Trp237Arg) c.706T>C (p.Trp236Arg) c.*57T>C (n.*57T>C) c.760T>C (p.Trp254Arg) c.748T>C (p.Trp250Arg) c.742T>C (p.Trp248Arg) c.580T>C (p.Trp194Arg) c.626-1854T>C (n.626-1854T>C) | dbSNP ExAC gnomAD v2 |
3 | g.39394544T>G | CA352205604 | SLC25A38 | c.712T>G (p.Trp238Gly) c.709T>G (p.Trp237Gly) c.706T>G (p.Trp236Gly) c.*57T>G (n.*57T>G) c.760T>G (p.Trp254Gly) c.748T>G (p.Trp250Gly) c.742T>G (p.Trp248Gly) c.580T>G (p.Trp194Gly) c.626-1854T>G (n.626-1854T>G) | |
3 | g.39394544T= | CA1358939323 | SLC25A38 | c.712T= (p.Trp238=) c.709T= (p.Trp237=) c.706T= (p.Trp236=) c.*57T= (n.*57T=) c.760T= (p.Trp254=) c.748T= (p.Trp250=) c.742T= (p.Trp248=) c.580T= (p.Trp194=) c.626-1854T= (n.626-1854T=) | |
3 | g.39394545G>A | CA352205619 | SLC25A38 | c.713G>A (p.Trp238Ter) c.710G>A (p.Trp237Ter) c.707G>A (p.Trp236Ter) c.*58G>A (n.*58G>A) c.761G>A (p.Trp254Ter) c.749G>A (p.Trp250Ter) c.743G>A (p.Trp248Ter) c.581G>A (p.Trp194Ter) c.626-1853G>A (n.626-1853G>A) | |
3 | g.39394545G>C | CA352205616 | SLC25A38 | c.713G>C (p.Trp238Ser) c.710G>C (p.Trp237Ser) c.707G>C (p.Trp236Ser) c.*58G>C (n.*58G>C) c.761G>C (p.Trp254Ser) c.749G>C (p.Trp250Ser) c.743G>C (p.Trp248Ser) c.581G>C (p.Trp194Ser) c.626-1853G>C (n.626-1853G>C) | |
3 | g.39394545G>T | CA352205617 | SLC25A38 | c.713G>T (p.Trp238Leu) c.710G>T (p.Trp237Leu) c.707G>T (p.Trp236Leu) c.*58G>T (n.*58G>T) c.761G>T (p.Trp254Leu) c.749G>T (p.Trp250Leu) c.743G>T (p.Trp248Leu) c.581G>T (p.Trp194Leu) c.626-1853G>T (n.626-1853G>T) | |
3 | g.39394546G>A | CA352205621 | SLC25A38 | c.714G>A (p.Trp238Ter) c.711G>A (p.Trp237Ter) c.708G>A (p.Trp236Ter) c.*59G>A (n.*59G>A) c.762G>A (p.Trp254Ter) c.750G>A (p.Trp250Ter) c.744G>A (p.Trp248Ter) c.582G>A (p.Trp194Ter) c.626-1852G>A (n.626-1852G>A) | |
3 | g.39394546G>C | CA352205623 | SLC25A38 | c.714G>C (p.Trp238Cys) c.711G>C (p.Trp237Cys) c.708G>C (p.Trp236Cys) c.*59G>C (n.*59G>C) c.762G>C (p.Trp254Cys) c.750G>C (p.Trp250Cys) c.744G>C (p.Trp248Cys) c.582G>C (p.Trp194Cys) c.626-1852G>C (n.626-1852G>C) | |
3 | g.39394546G>T | CA352205627 | SLC25A38 | c.714G>T (p.Trp238Cys) c.711G>T (p.Trp237Cys) c.708G>T (p.Trp236Cys) c.*59G>T (n.*59G>T) c.762G>T (p.Trp254Cys) c.750G>T (p.Trp250Cys) c.744G>T (p.Trp248Cys) c.582G>T (p.Trp194Cys) c.626-1852G>T (n.626-1852G>T) | |
3 | g.39394547A>C | CA352205631 | SLC25A38 | c.715A>C (p.Ile239Leu) c.712A>C (p.Ile238Leu) c.709A>C (p.Ile237Leu) c.*60A>C (n.*60A>C) c.763A>C (p.Ile255Leu) c.751A>C (p.Ile251Leu) c.745A>C (p.Ile249Leu) c.583A>C (p.Ile195Leu) c.626-1851A>C (n.626-1851A>C) | |
3 | g.39394547A>G | CA352205634 | SLC25A38 | c.715A>G (p.Ile239Val) c.712A>G (p.Ile238Val) c.709A>G (p.Ile237Val) c.*60A>G (n.*60A>G) c.763A>G (p.Ile255Val) c.751A>G (p.Ile251Val) c.745A>G (p.Ile249Val) c.583A>G (p.Ile195Val) c.626-1851A>G (n.626-1851A>G) | |
3 | g.39394547A>T | CA352205638 | SLC25A38 | c.715A>T (p.Ile239Phe) c.712A>T (p.Ile238Phe) c.709A>T (p.Ile237Phe) c.*60A>T (n.*60A>T) c.763A>T (p.Ile255Phe) c.751A>T (p.Ile251Phe) c.745A>T (p.Ile249Phe) c.583A>T (p.Ile195Phe) c.626-1851A>T (n.626-1851A>T) | |
3 | g.39394548T>A | CA352205639 | SLC25A38 | c.716T>A (p.Ile239Asn) c.713T>A (p.Ile238Asn) c.710T>A (p.Ile237Asn) c.*61T>A (n.*61T>A) c.764T>A (p.Ile255Asn) c.752T>A (p.Ile251Asn) c.746T>A (p.Ile249Asn) c.584T>A (p.Ile195Asn) c.626-1850T>A (n.626-1850T>A) | |
3 | g.39394548T>C | CA352205640 | SLC25A38 | c.716T>C (p.Ile239Thr) c.713T>C (p.Ile238Thr) c.710T>C (p.Ile237Thr) c.*61T>C (n.*61T>C) c.764T>C (p.Ile255Thr) c.752T>C (p.Ile251Thr) c.746T>C (p.Ile249Thr) c.584T>C (p.Ile195Thr) c.626-1850T>C (n.626-1850T>C) | dbSNP gnomAD v4 |
3 | g.39394548T>G | CA352205641 | SLC25A38 | c.716T>G (p.Ile239Ser) c.713T>G (p.Ile238Ser) c.710T>G (p.Ile237Ser) c.*61T>G (n.*61T>G) c.764T>G (p.Ile255Ser) c.752T>G (p.Ile251Ser) c.746T>G (p.Ile249Ser) c.584T>G (p.Ile195Ser) c.626-1850T>G (n.626-1850T>G) | |
3 | g.39394548T= | CA1358939324 | SLC25A38 | c.716T= (p.Ile239=) c.713T= (p.Ile238=) c.710T= (p.Ile237=) c.*61T= (n.*61T=) c.764T= (p.Ile255=) c.752T= (p.Ile251=) c.746T= (p.Ile249=) c.584T= (p.Ile195=) c.626-1850T= (n.626-1850T=) | |
3 | g.39394549T>A | CA433164900 | SLC25A38 | c.717T>A (p.Ile239=) c.714T>A (p.Ile238=) c.711T>A (p.Ile237=) c.*62T>A (n.*62T>A) c.765T>A (p.Ile255=) c.753T>A (p.Ile251=) c.747T>A (p.Ile249=) c.585T>A (p.Ile195=) c.626-1849T>A (n.626-1849T>A) | |
3 | g.39394549T>C | CA433164901 | SLC25A38 | c.717T>C (p.Ile239=) c.714T>C (p.Ile238=) c.711T>C (p.Ile237=) c.*62T>C (n.*62T>C) c.765T>C (p.Ile255=) c.753T>C (p.Ile251=) c.747T>C (p.Ile249=) c.585T>C (p.Ile195=) c.626-1849T>C (n.626-1849T>C) | |
3 | g.39394549T>G | CA352205642 | SLC25A38 | c.717T>G (p.Ile239Met) c.714T>G (p.Ile238Met) c.711T>G (p.Ile237Met) c.*62T>G (n.*62T>G) c.765T>G (p.Ile255Met) c.753T>G (p.Ile251Met) c.747T>G (p.Ile249Met) c.585T>G (p.Ile195Met) c.626-1849T>G (n.626-1849T>G) | |
3 | g.39394550G>A | CA352205654 | SLC25A38 | c.718G>A (p.Gly240Ser) c.715G>A (p.Gly239Ser) c.712G>A (p.Gly238Ser) c.*63G>A (n.*63G>A) c.766G>A (p.Gly256Ser) c.754G>A (p.Gly252Ser) c.748G>A (p.Gly250Ser) c.586G>A (p.Gly196Ser) c.626-1848G>A (n.626-1848G>A) | |
3 | g.39394550G>C | CA352205646 | SLC25A38 | c.718G>C (p.Gly240Arg) c.715G>C (p.Gly239Arg) c.712G>C (p.Gly238Arg) c.*63G>C (n.*63G>C) c.766G>C (p.Gly256Arg) c.754G>C (p.Gly252Arg) c.748G>C (p.Gly250Arg) c.586G>C (p.Gly196Arg) c.626-1848G>C (n.626-1848G>C) | |
3 | g.39394550G>T | CA352205651 | SLC25A38 | c.718G>T (p.Gly240Cys) c.715G>T (p.Gly239Cys) c.712G>T (p.Gly238Cys) c.*63G>T (n.*63G>T) c.766G>T (p.Gly256Cys) c.754G>T (p.Gly252Cys) c.748G>T (p.Gly250Cys) c.586G>T (p.Gly196Cys) c.626-1848G>T (n.626-1848G>T) | |
3 | g.39394551G>A | CA352205658 | SLC25A38 | c.719G>A (p.Gly240Asp) c.716G>A (p.Gly239Asp) c.713G>A (p.Gly238Asp) c.*64G>A (n.*64G>A) c.767G>A (p.Gly256Asp) c.755G>A (p.Gly252Asp) c.749G>A (p.Gly250Asp) c.587G>A (p.Gly196Asp) c.626-1847G>A (n.626-1847G>A) | COSMIC |
3 | g.39394551G>C | CA352205665 | SLC25A38 | c.719G>C (p.Gly240Ala) c.716G>C (p.Gly239Ala) c.713G>C (p.Gly238Ala) c.*64G>C (n.*64G>C) c.767G>C (p.Gly256Ala) c.755G>C (p.Gly252Ala) c.749G>C (p.Gly250Ala) c.587G>C (p.Gly196Ala) c.626-1847G>C (n.626-1847G>C) | |
3 | g.39394551G>T | CA352205668 | SLC25A38 | c.719G>T (p.Gly240Val) c.716G>T (p.Gly239Val) c.713G>T (p.Gly238Val) c.*64G>T (n.*64G>T) c.767G>T (p.Gly256Val) c.755G>T (p.Gly252Val) c.749G>T (p.Gly250Val) c.587G>T (p.Gly196Val) c.626-1847G>T (n.626-1847G>T) | |
3 | g.39394552C>A | CA433164908 | SLC25A38 | c.720C>A (p.Gly240=) c.717C>A (p.Gly239=) c.714C>A (p.Gly238=) c.*65C>A (n.*65C>A) c.768C>A (p.Gly256=) c.756C>A (p.Gly252=) c.750C>A (p.Gly250=) c.588C>A (p.Gly196=) c.626-1846C>A (n.626-1846C>A) | |
3 | g.39394552C>G | CA433164910 | SLC25A38 | c.720C>G (p.Gly240=) c.717C>G (p.Gly239=) c.714C>G (p.Gly238=) c.*65C>G (n.*65C>G) c.768C>G (p.Gly256=) c.756C>G (p.Gly252=) c.750C>G (p.Gly250=) c.588C>G (p.Gly196=) c.626-1846C>G (n.626-1846C>G) | |
3 | g.39394552C>T | CA433164912 | SLC25A38 | c.720C>T (p.Gly240=) c.717C>T (p.Gly239=) c.714C>T (p.Gly238=) c.*65C>T (n.*65C>T) c.768C>T (p.Gly256=) c.756C>T (p.Gly252=) c.750C>T (p.Gly250=) c.588C>T (p.Gly196=) c.626-1846C>T (n.626-1846C>T) | |
3 | g.39394553C>A | CA352205672 | SLC25A38 | c.721C>A (p.Gln241Lys) c.718C>A (p.Gln240Lys) c.715C>A (p.Gln239Lys) c.*66C>A (n.*66C>A) c.769C>A (p.Gln257Lys) c.757C>A (p.Gln253Lys) c.751C>A (p.Gln251Lys) c.589C>A (p.Gln197Lys) c.626-1845C>A (n.626-1845C>A) | |
3 | g.39394553C>G | CA352205673 | SLC25A38 | c.721C>G (p.Gln241Glu) c.718C>G (p.Gln240Glu) c.715C>G (p.Gln239Glu) c.*66C>G (n.*66C>G) c.769C>G (p.Gln257Glu) c.757C>G (p.Gln253Glu) c.751C>G (p.Gln251Glu) c.589C>G (p.Gln197Glu) c.626-1845C>G (n.626-1845C>G) | |
3 | g.39394553C>T | CA352205674 | SLC25A38 | c.721C>T (p.Gln241Ter) c.718C>T (p.Gln240Ter) c.715C>T (p.Gln239Ter) c.*66C>T (n.*66C>T) c.769C>T (p.Gln257Ter) c.757C>T (p.Gln253Ter) c.751C>T (p.Gln251Ter) c.589C>T (p.Gln197Ter) c.626-1845C>T (n.626-1845C>T) | |
3 | g.39394554A>C | CA352205676 | SLC25A38 | c.722A>C (p.Gln241Pro) c.719A>C (p.Gln240Pro) c.716A>C (p.Gln239Pro) c.*67A>C (n.*67A>C) c.770A>C (p.Gln257Pro) c.758A>C (p.Gln253Pro) c.752A>C (p.Gln251Pro) c.590A>C (p.Gln197Pro) c.626-1844A>C (n.626-1844A>C) | |
3 | g.39394554A>G | CA352205678 | SLC25A38 | c.722A>G (p.Gln241Arg) c.719A>G (p.Gln240Arg) c.716A>G (p.Gln239Arg) c.*67A>G (n.*67A>G) c.770A>G (p.Gln257Arg) c.758A>G (p.Gln253Arg) c.752A>G (p.Gln251Arg) c.590A>G (p.Gln197Arg) c.626-1844A>G (n.626-1844A>G) | |
3 | g.39394554A>T | CA352205680 | SLC25A38 | c.722A>T (p.Gln241Leu) c.719A>T (p.Gln240Leu) c.716A>T (p.Gln239Leu) c.*67A>T (n.*67A>T) c.770A>T (p.Gln257Leu) c.758A>T (p.Gln253Leu) c.752A>T (p.Gln251Leu) c.590A>T (p.Gln197Leu) c.626-1844A>T (n.626-1844A>T) | |
3 | g.39394555A>C | CA352205688 | SLC25A38 | c.723A>C (p.Gln241His) c.720A>C (p.Gln240His) c.717A>C (p.Gln239His) c.*68A>C (n.*68A>C) c.771A>C (p.Gln257His) c.759A>C (p.Gln253His) c.753A>C (p.Gln251His) c.591A>C (p.Gln197His) c.626-1843A>C (n.626-1843A>C) | |
3 | g.39394555A>G | CA433164919 | SLC25A38 | c.723A>G (p.Gln241=) c.720A>G (p.Gln240=) c.717A>G (p.Gln239=) c.*68A>G (n.*68A>G) c.771A>G (p.Gln257=) c.759A>G (p.Gln253=) c.753A>G (p.Gln251=) c.591A>G (p.Gln197=) c.626-1843A>G (n.626-1843A>G) | |
3 | g.39394555A>T | CA352205692 | SLC25A38 | c.723A>T (p.Gln241His) c.720A>T (p.Gln240His) c.717A>T (p.Gln239His) c.*68A>T (n.*68A>T) c.771A>T (p.Gln257His) c.759A>T (p.Gln253His) c.753A>T (p.Gln251His) c.591A>T (p.Gln197His) c.626-1843A>T (n.626-1843A>T) | |
3 | g.39394556G>A | CA352205694 | SLC25A38 | c.724G>A (p.Ala242Thr) c.721G>A (p.Ala241Thr) c.718G>A (p.Ala240Thr) c.*69G>A (n.*69G>A) c.772G>A (p.Ala258Thr) c.760G>A (p.Ala254Thr) c.754G>A (p.Ala252Thr) c.592G>A (p.Ala198Thr) c.626-1842G>A (n.626-1842G>A) | gnomAD v4 |
3 | g.39394556G>C | CA352205695 | SLC25A38 | c.724G>C (p.Ala242Pro) c.721G>C (p.Ala241Pro) c.718G>C (p.Ala240Pro) c.*69G>C (n.*69G>C) c.772G>C (p.Ala258Pro) c.760G>C (p.Ala254Pro) c.754G>C (p.Ala252Pro) c.592G>C (p.Ala198Pro) c.626-1842G>C (n.626-1842G>C) | |
3 | g.39394556G>T | CA352205693 | SLC25A38 | c.724G>T (p.Ala242Ser) c.721G>T (p.Ala241Ser) c.718G>T (p.Ala240Ser) c.*69G>T (n.*69G>T) c.772G>T (p.Ala258Ser) c.760G>T (p.Ala254Ser) c.754G>T (p.Ala252Ser) c.592G>T (p.Ala198Ser) c.626-1842G>T (n.626-1842G>T) | |
3 | g.39394557C>A | CA352205699 | SLC25A38 | c.725C>A (p.Ala242Glu) c.722C>A (p.Ala241Glu) c.719C>A (p.Ala240Glu) c.*70C>A (n.*70C>A) c.773C>A (p.Ala258Glu) c.761C>A (p.Ala254Glu) c.755C>A (p.Ala252Glu) c.593C>A (p.Ala198Glu) c.626-1841C>A (n.626-1841C>A) | |
3 | g.39394557C>G | CA352205708 | SLC25A38 | c.725C>G (p.Ala242Gly) c.722C>G (p.Ala241Gly) c.719C>G (p.Ala240Gly) c.*70C>G (n.*70C>G) c.773C>G (p.Ala258Gly) c.761C>G (p.Ala254Gly) c.755C>G (p.Ala252Gly) c.593C>G (p.Ala198Gly) c.626-1841C>G (n.626-1841C>G) | |
3 | g.39394557C>T | CA352205711 | SLC25A38 | c.725C>T (p.Ala242Val) c.722C>T (p.Ala241Val) c.719C>T (p.Ala240Val) c.*70C>T (n.*70C>T) c.773C>T (p.Ala258Val) c.761C>T (p.Ala254Val) c.755C>T (p.Ala252Val) c.593C>T (p.Ala198Val) c.626-1841C>T (n.626-1841C>T) | |
3 | g.39394558A>C | CA433164930 | SLC25A38 | c.726A>C (p.Ala242=) c.723A>C (p.Ala241=) c.720A>C (p.Ala240=) c.*71A>C (n.*71A>C) c.774A>C (p.Ala258=) c.762A>C (p.Ala254=) c.756A>C (p.Ala252=) c.594A>C (p.Ala198=) c.626-1840A>C (n.626-1840A>C) | |
3 | g.39394558A>G | CA433164932 | SLC25A38 | c.726A>G (p.Ala242=) c.723A>G (p.Ala241=) c.720A>G (p.Ala240=) c.*71A>G (n.*71A>G) c.774A>G (p.Ala258=) c.762A>G (p.Ala254=) c.756A>G (p.Ala252=) c.594A>G (p.Ala198=) c.626-1840A>G (n.626-1840A>G) | |
3 | g.39394558A>T | CA433164934 | SLC25A38 | c.726A>T (p.Ala242=) c.723A>T (p.Ala241=) c.720A>T (p.Ala240=) c.*71A>T (n.*71A>T) c.774A>T (p.Ala258=) c.762A>T (p.Ala254=) c.756A>T (p.Ala252=) c.594A>T (p.Ala198=) c.626-1840A>T (n.626-1840A>T) | |
3 | g.39394559G>A | CA352205712 | SLC25A38 | c.727G>A (p.Val243Met) c.724G>A (p.Val242Met) c.721G>A (p.Val241Met) c.*72G>A (n.*72G>A) c.775G>A (p.Val259Met) c.763G>A (p.Val255Met) c.757G>A (p.Val253Met) c.595G>A (p.Val199Met) c.626-1839G>A (n.626-1839G>A) | |
3 | g.39394559G>C | CA352205713 | SLC25A38 | c.727G>C (p.Val243Leu) c.724G>C (p.Val242Leu) c.721G>C (p.Val241Leu) c.*72G>C (n.*72G>C) c.775G>C (p.Val259Leu) c.763G>C (p.Val255Leu) c.757G>C (p.Val253Leu) c.595G>C (p.Val199Leu) c.626-1839G>C (n.626-1839G>C) | |
3 | g.39394559G>T | CA352205714 | SLC25A38 | c.727G>T (p.Val243Leu) c.724G>T (p.Val242Leu) c.721G>T (p.Val241Leu) c.*72G>T (n.*72G>T) c.775G>T (p.Val259Leu) c.763G>T (p.Val255Leu) c.757G>T (p.Val253Leu) c.595G>T (p.Val199Leu) c.626-1839G>T (n.626-1839G>T) | |
3 | g.39394560T>A | CA352205717 | SLC25A38 | c.728T>A (p.Val243Glu) c.725T>A (p.Val242Glu) c.722T>A (p.Val241Glu) c.*73T>A (n.*73T>A) c.776T>A (p.Val259Glu) c.764T>A (p.Val255Glu) c.758T>A (p.Val253Glu) c.596T>A (p.Val199Glu) c.626-1838T>A (n.626-1838T>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.39394560T>C | CA352205718 | SLC25A38 | c.728T>C (p.Val243Ala) c.725T>C (p.Val242Ala) c.722T>C (p.Val241Ala) c.*73T>C (n.*73T>C) c.776T>C (p.Val259Ala) c.764T>C (p.Val255Ala) c.758T>C (p.Val253Ala) c.596T>C (p.Val199Ala) c.626-1838T>C (n.626-1838T>C) | |
3 | g.39394560T>G | CA352205720 | SLC25A38 | c.728T>G (p.Val243Gly) c.725T>G (p.Val242Gly) c.722T>G (p.Val241Gly) c.*73T>G (n.*73T>G) c.776T>G (p.Val259Gly) c.764T>G (p.Val255Gly) c.758T>G (p.Val253Gly) c.596T>G (p.Val199Gly) c.626-1838T>G (n.626-1838T>G) | |
3 | g.39394560T= | CA1358939325 | SLC25A38 | c.728T= (p.Val243=) c.725T= (p.Val242=) c.722T= (p.Val241=) c.*73T= (n.*73T=) c.776T= (p.Val259=) c.764T= (p.Val255=) c.758T= (p.Val253=) c.596T= (p.Val199=) c.626-1838T= (n.626-1838T=) | |
3 | g.39394561G>A | CA433164943 | SLC25A38 | c.729G>A (p.Val243=) c.726G>A (p.Val242=) c.723G>A (p.Val241=) c.*74G>A (n.*74G>A) c.777G>A (p.Val259=) c.765G>A (p.Val255=) c.759G>A (p.Val253=) c.597G>A (p.Val199=) c.626-1837G>A (n.626-1837G>A) | dbSNP |
3 | g.39394561G>C | CA433164946 | SLC25A38 | c.729G>C (p.Val243=) c.726G>C (p.Val242=) c.723G>C (p.Val241=) c.*74G>C (n.*74G>C) c.777G>C (p.Val259=) c.765G>C (p.Val255=) c.759G>C (p.Val253=) c.597G>C (p.Val199=) c.626-1837G>C (n.626-1837G>C) | |
3 | g.39394561G= | CA1358939326 | SLC25A38 | c.729G= (p.Val243=) c.726G= (p.Val242=) c.723G= (p.Val241=) c.*74G= (n.*74G=) c.777G= (p.Val259=) c.765G= (p.Val255=) c.759G= (p.Val253=) c.597G= (p.Val199=) c.626-1837G= (n.626-1837G=) | |
3 | g.39394561G>T | CA433164945 | SLC25A38 | c.729G>T (p.Val243=) c.726G>T (p.Val242=) c.723G>T (p.Val241=) c.*74G>T (n.*74G>T) c.777G>T (p.Val259=) c.765G>T (p.Val255=) c.759G>T (p.Val253=) c.597G>T (p.Val199=) c.626-1837G>T (n.626-1837G>T) | |
3 | g.39394562A= | CA1358939327 | SLC25A38 | c.730A= (p.Thr244=) c.727A= (p.Thr243=) c.724A= (p.Thr242=) c.*75A= (n.*75A=) c.778A= (p.Thr260=) c.766A= (p.Thr256=) c.760A= (p.Thr254=) c.598A= (p.Thr200=) c.626-1836A= (n.626-1836A=) | |
3 | g.39394562A>C | CA352205736 | SLC25A38 | c.730A>C (p.Thr244Pro) c.727A>C (p.Thr243Pro) c.724A>C (p.Thr242Pro) c.*75A>C (n.*75A>C) c.778A>C (p.Thr260Pro) c.766A>C (p.Thr256Pro) c.760A>C (p.Thr254Pro) c.598A>C (p.Thr200Pro) c.626-1836A>C (n.626-1836A>C) | |
3 | g.39394562A>G | CA352205738 | SLC25A38 | c.730A>G (p.Thr244Ala) c.727A>G (p.Thr243Ala) c.724A>G (p.Thr242Ala) c.*75A>G (n.*75A>G) c.778A>G (p.Thr260Ala) c.766A>G (p.Thr256Ala) c.760A>G (p.Thr254Ala) c.598A>G (p.Thr200Ala) c.626-1836A>G (n.626-1836A>G) | dbSNP |
3 | g.39394562A>T | CA352205740 | SLC25A38 | c.730A>T (p.Thr244Ser) c.727A>T (p.Thr243Ser) c.724A>T (p.Thr242Ser) c.*75A>T (n.*75A>T) c.778A>T (p.Thr260Ser) c.766A>T (p.Thr256Ser) c.760A>T (p.Thr254Ser) c.598A>T (p.Thr200Ser) c.626-1836A>T (n.626-1836A>T) | |
3 | g.39394563C>A | CA352205761 | SLC25A38 | c.731C>A (p.Thr244Lys) c.728C>A (p.Thr243Lys) c.725C>A (p.Thr242Lys) c.*76C>A (n.*76C>A) c.779C>A (p.Thr260Lys) c.767C>A (p.Thr256Lys) c.761C>A (p.Thr254Lys) c.599C>A (p.Thr200Lys) c.626-1835C>A (n.626-1835C>A) | |
3 | g.39394563C>G | CA352205763 | SLC25A38 | c.731C>G (p.Thr244Arg) c.728C>G (p.Thr243Arg) c.725C>G (p.Thr242Arg) c.*76C>G (n.*76C>G) c.779C>G (p.Thr260Arg) c.767C>G (p.Thr256Arg) c.761C>G (p.Thr254Arg) c.599C>G (p.Thr200Arg) c.626-1835C>G (n.626-1835C>G) | gnomAD v4 |
3 | g.39394563C>T | CA352205745 | SLC25A38 | c.731C>T (p.Thr244Ile) c.728C>T (p.Thr243Ile) c.725C>T (p.Thr242Ile) c.*76C>T (n.*76C>T) c.779C>T (p.Thr260Ile) c.767C>T (p.Thr256Ile) c.761C>T (p.Thr254Ile) c.599C>T (p.Thr200Ile) c.626-1835C>T (n.626-1835C>T) | |
3 | g.39394564A= | CA1358939328 | SLC25A38 | c.732A= (p.Thr244=) c.729A= (p.Thr243=) c.726A= (p.Thr242=) c.*77A= (n.*77A=) c.780A= (p.Thr260=) c.768A= (p.Thr256=) c.762A= (p.Thr254=) c.600A= (p.Thr200=) c.626-1834A= (n.626-1834A=) | |
3 | g.39394564A>C | CA433164955 | SLC25A38 | c.732A>C (p.Thr244=) c.729A>C (p.Thr243=) c.726A>C (p.Thr242=) c.*77A>C (n.*77A>C) c.780A>C (p.Thr260=) c.768A>C (p.Thr256=) c.762A>C (p.Thr254=) c.600A>C (p.Thr200=) c.626-1834A>C (n.626-1834A>C) | |
3 | g.39394564A>G | CA2327544 | SLC25A38 | c.732A>G (p.Thr244=) c.729A>G (p.Thr243=) c.726A>G (p.Thr242=) c.*77A>G (n.*77A>G) c.780A>G (p.Thr260=) c.768A>G (p.Thr256=) c.762A>G (p.Thr254=) c.600A>G (p.Thr200=) c.626-1834A>G (n.626-1834A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39394564A>T | CA433164958 | SLC25A38 | c.732A>T (p.Thr244=) c.729A>T (p.Thr243=) c.726A>T (p.Thr242=) c.*77A>T (n.*77A>T) c.780A>T (p.Thr260=) c.768A>T (p.Thr256=) c.762A>T (p.Thr254=) c.600A>T (p.Thr200=) c.626-1834A>T (n.626-1834A>T) | |
3 | g.39394565C>A | CA352205774 | SLC25A38 | c.733C>A (p.Leu245Ile) c.730C>A (p.Leu244Ile) c.727C>A (p.Leu243Ile) c.*78C>A (n.*78C>A) c.781C>A (p.Leu261Ile) c.769C>A (p.Leu257Ile) c.763C>A (p.Leu255Ile) c.601C>A (p.Leu201Ile) c.626-1833C>A (n.626-1833C>A) | |
3 | g.39394565C= | CA1358939329 | SLC25A38 | c.733C= (p.Leu245=) c.730C= (p.Leu244=) c.727C= (p.Leu243=) c.*78C= (n.*78C=) c.781C= (p.Leu261=) c.769C= (p.Leu257=) c.763C= (p.Leu255=) c.601C= (p.Leu201=) c.626-1833C= (n.626-1833C=) | |
3 | g.39394565C>G | CA352205777 | SLC25A38 | c.733C>G (p.Leu245Val) c.730C>G (p.Leu244Val) c.727C>G (p.Leu243Val) c.*78C>G (n.*78C>G) c.781C>G (p.Leu261Val) c.769C>G (p.Leu257Val) c.763C>G (p.Leu255Val) c.601C>G (p.Leu201Val) c.626-1833C>G (n.626-1833C>G) | |
3 | g.39394565C>T | CA352205785 | SLC25A38 | c.733C>T (p.Leu245Phe) c.730C>T (p.Leu244Phe) c.727C>T (p.Leu243Phe) c.*78C>T (n.*78C>T) c.781C>T (p.Leu261Phe) c.769C>T (p.Leu257Phe) c.763C>T (p.Leu255Phe) c.601C>T (p.Leu201Phe) c.626-1833C>T (n.626-1833C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.39394566T>A | CA352205789 | SLC25A38 | c.734T>A (p.Leu245His) c.731T>A (p.Leu244His) c.728T>A (p.Leu243His) c.*79T>A (n.*79T>A) c.782T>A (p.Leu261His) c.770T>A (p.Leu257His) c.764T>A (p.Leu255His) c.602T>A (p.Leu201His) c.626-1832T>A (n.626-1832T>A) | |
3 | g.39394566T>C | CA352205791 | SLC25A38 | c.734T>C (p.Leu245Pro) c.731T>C (p.Leu244Pro) c.728T>C (p.Leu243Pro) c.*79T>C (n.*79T>C) c.782T>C (p.Leu261Pro) c.770T>C (p.Leu257Pro) c.764T>C (p.Leu255Pro) c.602T>C (p.Leu201Pro) c.626-1832T>C (n.626-1832T>C) | |
3 | g.39394566T>G | CA2327545 | SLC25A38 | c.734T>G (p.Leu245Arg) c.731T>G (p.Leu244Arg) c.728T>G (p.Leu243Arg) c.*79T>G (n.*79T>G) c.782T>G (p.Leu261Arg) c.770T>G (p.Leu257Arg) c.764T>G (p.Leu255Arg) c.602T>G (p.Leu201Arg) c.626-1832T>G (n.626-1832T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39394566T= | CA1358939330 | SLC25A38 | c.734T= (p.Leu245=) c.731T= (p.Leu244=) c.728T= (p.Leu243=) c.*79T= (n.*79T=) c.782T= (p.Leu261=) c.770T= (p.Leu257=) c.764T= (p.Leu255=) c.602T= (p.Leu201=) c.626-1832T= (n.626-1832T=) | |
3 | g.39394567T>A | CA433164967 | SLC25A38 | c.735T>A (p.Leu245=) c.732T>A (p.Leu244=) c.729T>A (p.Leu243=) c.*80T>A (n.*80T>A) c.783T>A (p.Leu261=) c.771T>A (p.Leu257=) c.765T>A (p.Leu255=) c.603T>A (p.Leu201=) c.626-1831T>A (n.626-1831T>A) | |
3 | g.39394567T>C | CA433164968 | SLC25A38 | c.735T>C (p.Leu245=) c.732T>C (p.Leu244=) c.729T>C (p.Leu243=) c.*80T>C (n.*80T>C) c.783T>C (p.Leu261=) c.771T>C (p.Leu257=) c.765T>C (p.Leu255=) c.603T>C (p.Leu201=) c.626-1831T>C (n.626-1831T>C) | |
3 | g.39394567T>G | CA433164971 | SLC25A38 | c.735T>G (p.Leu245=) c.732T>G (p.Leu244=) c.729T>G (p.Leu243=) c.*80T>G (n.*80T>G) c.783T>G (p.Leu261=) c.771T>G (p.Leu257=) c.765T>G (p.Leu255=) c.603T>G (p.Leu201=) c.626-1831T>G (n.626-1831T>G) | |
3 | g.39394568A= | CA1358939331 | SLC25A38 | c.736A= (p.Ile246=) c.733A= (p.Ile245=) c.730A= (p.Ile244=) c.*81A= (n.*81A=) c.784A= (p.Ile262=) c.772A= (p.Ile258=) c.766A= (p.Ile256=) c.604A= (p.Ile202=) c.626-1830A= (n.626-1830A=) | |
3 | g.39394568A>C | CA352205796 | SLC25A38 | c.736A>C (p.Ile246Leu) c.733A>C (p.Ile245Leu) c.730A>C (p.Ile244Leu) c.*81A>C (n.*81A>C) c.784A>C (p.Ile262Leu) c.772A>C (p.Ile258Leu) c.766A>C (p.Ile256Leu) c.604A>C (p.Ile202Leu) c.626-1830A>C (n.626-1830A>C) | |
3 | g.39394568A>G | CA352205800 | SLC25A38 | c.736A>G (p.Ile246Val) c.733A>G (p.Ile245Val) c.730A>G (p.Ile244Val) c.*81A>G (n.*81A>G) c.784A>G (p.Ile262Val) c.772A>G (p.Ile258Val) c.766A>G (p.Ile256Val) c.604A>G (p.Ile202Val) c.626-1830A>G (n.626-1830A>G) | dbSNP gnomAD v4 |
3 | g.39394568A>T | CA352205798 | SLC25A38 | c.736A>T (p.Ile246Phe) c.733A>T (p.Ile245Phe) c.730A>T (p.Ile244Phe) c.*81A>T (n.*81A>T) c.784A>T (p.Ile262Phe) c.772A>T (p.Ile258Phe) c.766A>T (p.Ile256Phe) c.604A>T (p.Ile202Phe) c.626-1830A>T (n.626-1830A>T) | |
3 | g.39394569T>A | CA352205804 | SLC25A38 | c.737T>A (p.Ile246Asn) c.734T>A (p.Ile245Asn) c.731T>A (p.Ile244Asn) c.*82T>A (n.*82T>A) c.785T>A (p.Ile262Asn) c.773T>A (p.Ile258Asn) c.767T>A (p.Ile256Asn) c.605T>A (p.Ile202Asn) c.626-1829T>A (n.626-1829T>A) | |
3 | g.39394569T>C | CA2327546 | SLC25A38 | c.737T>C (p.Ile246Thr) c.734T>C (p.Ile245Thr) c.731T>C (p.Ile244Thr) c.*82T>C (n.*82T>C) c.785T>C (p.Ile262Thr) c.773T>C (p.Ile258Thr) c.767T>C (p.Ile256Thr) c.605T>C (p.Ile202Thr) c.626-1829T>C (n.626-1829T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.39394569T>G | CA352205808 | SLC25A38 | c.737T>G (p.Ile246Ser) c.734T>G (p.Ile245Ser) c.731T>G (p.Ile244Ser) c.*82T>G (n.*82T>G) c.785T>G (p.Ile262Ser) c.773T>G (p.Ile258Ser) c.767T>G (p.Ile256Ser) c.605T>G (p.Ile202Ser) c.626-1829T>G (n.626-1829T>G) | |
3 | g.39394569T= | CA1358939332 | SLC25A38 | c.737T= (p.Ile246=) c.734T= (p.Ile245=) c.731T= (p.Ile244=) c.*82T= (n.*82T=) c.785T= (p.Ile262=) c.773T= (p.Ile258=) c.767T= (p.Ile256=) c.605T= (p.Ile202=) c.626-1829T= (n.626-1829T=) | |
3 | g.39394572del | CA2665163036 | SLC25A38 | c.740del (p.Phe247SerfsTer?) c.737del (p.Phe246SerfsTer22) c.734del (p.Phe245SerfsTer22) c.*85del (n.*85del) c.788del (p.Phe263SerfsTer22) c.776del (p.Phe259SerfsTer22) c.770del (p.Phe257SerfsTer22) c.608del (p.Phe203SerfsTer22) c.626-1826del (n.626-1826del) | gnomAD v4 |
3 | g.39394570T>A | CA433164981 | SLC25A38 | c.738T>A (p.Ile246=) c.735T>A (p.Ile245=) c.732T>A (p.Ile244=) c.*83T>A (n.*83T>A) c.786T>A (p.Ile262=) c.774T>A (p.Ile258=) c.768T>A (p.Ile256=) c.606T>A (p.Ile202=) c.626-1828T>A (n.626-1828T>A) | |
3 | g.39394570T>C | CA433164982 | SLC25A38 | c.738T>C (p.Ile246=) c.735T>C (p.Ile245=) c.732T>C (p.Ile244=) c.*83T>C (n.*83T>C) c.786T>C (p.Ile262=) c.774T>C (p.Ile258=) c.768T>C (p.Ile256=) c.606T>C (p.Ile202=) c.626-1828T>C (n.626-1828T>C) | ClinVar dbSNP gnomAD v4 |
3 | g.39394570T>G | CA352205815 | SLC25A38 | c.738T>G (p.Ile246Met) c.735T>G (p.Ile245Met) c.732T>G (p.Ile244Met) c.*83T>G (n.*83T>G) c.786T>G (p.Ile262Met) c.774T>G (p.Ile258Met) c.768T>G (p.Ile256Met) c.606T>G (p.Ile202Met) c.626-1828T>G (n.626-1828T>G) | |
3 | g.39394571T>A | CA352205818 | SLC25A38 | c.739T>A (p.Phe247Ile) c.736T>A (p.Phe246Ile) c.733T>A (p.Phe245Ile) c.*84T>A (n.*84T>A) c.787T>A (p.Phe263Ile) c.775T>A (p.Phe259Ile) c.769T>A (p.Phe257Ile) c.607T>A (p.Phe203Ile) c.626-1827T>A (n.626-1827T>A) | |
3 | g.39394571T>C | CA352205817 | SLC25A38 | c.739T>C (p.Phe247Leu) c.736T>C (p.Phe246Leu) c.733T>C (p.Phe245Leu) c.*84T>C (n.*84T>C) c.787T>C (p.Phe263Leu) c.775T>C (p.Phe259Leu) c.769T>C (p.Phe257Leu) c.607T>C (p.Phe203Leu) c.626-1827T>C (n.626-1827T>C) | |
3 | g.39394571T>G | CA352205816 | SLC25A38 | c.739T>G (p.Phe247Val) c.736T>G (p.Phe246Val) c.733T>G (p.Phe245Val) c.*84T>G (n.*84T>G) c.787T>G (p.Phe263Val) c.775T>G (p.Phe259Val) c.769T>G (p.Phe257Val) c.607T>G (p.Phe203Val) c.626-1827T>G (n.626-1827T>G) | |
3 | g.39394572T>A | CA352205821 | SLC25A38 | c.740T>A (p.Phe247Tyr) c.737T>A (p.Phe246Tyr) c.734T>A (p.Phe245Tyr) c.*85T>A (n.*85T>A) c.788T>A (p.Phe263Tyr) c.776T>A (p.Phe259Tyr) c.770T>A (p.Phe257Tyr) c.608T>A (p.Phe203Tyr) c.626-1826T>A (n.626-1826T>A) | |
3 | g.39394572T>C | CA352205827 | SLC25A38 | c.740T>C (p.Phe247Ser) c.737T>C (p.Phe246Ser) c.734T>C (p.Phe245Ser) c.*85T>C (n.*85T>C) c.788T>C (p.Phe263Ser) c.776T>C (p.Phe259Ser) c.770T>C (p.Phe257Ser) c.608T>C (p.Phe203Ser) c.626-1826T>C (n.626-1826T>C) | |
3 | g.39394572T>G | CA352205823 | SLC25A38 | c.740T>G (p.Phe247Cys) c.737T>G (p.Phe246Cys) c.734T>G (p.Phe245Cys) c.*85T>G (n.*85T>G) c.788T>G (p.Phe263Cys) c.776T>G (p.Phe259Cys) c.770T>G (p.Phe257Cys) c.608T>G (p.Phe203Cys) c.626-1826T>G (n.626-1826T>G) | |
3 | g.39394573C>A | CA352205831 | SLC25A38 | c.741C>A (p.Phe247Leu) c.738C>A (p.Phe246Leu) c.735C>A (p.Phe245Leu) c.*86C>A (n.*86C>A) c.789C>A (p.Phe263Leu) c.777C>A (p.Phe259Leu) c.771C>A (p.Phe257Leu) c.609C>A (p.Phe203Leu) c.626-1825C>A (n.626-1825C>A) | |
3 | g.39394573C= | CA1358939333 | SLC25A38 | c.741C= (p.Phe247=) c.738C= (p.Phe246=) c.735C= (p.Phe245=) c.*86C= (n.*86C=) c.789C= (p.Phe263=) c.777C= (p.Phe259=) c.771C= (p.Phe257=) c.609C= (p.Phe203=) c.626-1825C= (n.626-1825C=) | |
3 | g.39394573C>G | CA352205835 | SLC25A38 | c.741C>G (p.Phe247Leu) c.738C>G (p.Phe246Leu) c.735C>G (p.Phe245Leu) c.*86C>G (n.*86C>G) c.789C>G (p.Phe263Leu) c.777C>G (p.Phe259Leu) c.771C>G (p.Phe257Leu) c.609C>G (p.Phe203Leu) c.626-1825C>G (n.626-1825C>G) | |
3 | g.39394573C>T | CA433164993 | SLC25A38 | c.741C>T (p.Phe247=) c.738C>T (p.Phe246=) c.735C>T (p.Phe245=) c.*86C>T (n.*86C>T) c.789C>T (p.Phe263=) c.777C>T (p.Phe259=) c.771C>T (p.Phe257=) c.609C>T (p.Phe203=) c.626-1825C>T (n.626-1825C>T) | dbSNP |
3 | g.39394574A= | CA1358939334 | SLC25A38 | c.742A= (p.Lys248=) c.739A= (p.Lys247=) c.736A= (p.Lys246=) c.*87A= (n.*87A=) c.790A= (p.Lys264=) c.778A= (p.Lys260=) c.772A= (p.Lys258=) c.610A= (p.Lys204=) c.626-1824A= (n.626-1824A=) | |
3 | g.39394574A>C | CA352205836 | SLC25A38 | c.742A>C (p.Lys248Gln) c.739A>C (p.Lys247Gln) c.736A>C (p.Lys246Gln) c.*87A>C (n.*87A>C) c.790A>C (p.Lys264Gln) c.778A>C (p.Lys260Gln) c.772A>C (p.Lys258Gln) c.610A>C (p.Lys204Gln) c.626-1824A>C (n.626-1824A>C) | |
3 | g.39394574A>G | CA352205837 | SLC25A38 | c.742A>G (p.Lys248Glu) c.739A>G (p.Lys247Glu) c.736A>G (p.Lys246Glu) c.*87A>G (n.*87A>G) c.790A>G (p.Lys264Glu) c.778A>G (p.Lys260Glu) c.772A>G (p.Lys258Glu) c.610A>G (p.Lys204Glu) c.626-1824A>G (n.626-1824A>G) | |
3 | g.39394574A>T | CA114774 | SLC25A38 | c.742A>T (p.Lys248Ter) c.739A>T (p.Lys247Ter) c.736A>T (p.Lys246Ter) c.*87A>T (n.*87A>T) c.790A>T (p.Lys264Ter) c.778A>T (p.Lys260Ter) c.772A>T (p.Lys258Ter) c.610A>T (p.Lys204Ter) c.626-1824A>T (n.626-1824A>T) | ClinVar dbSNP gnomAD v4 |
3 | g.39394575A>C | CA352205843 | SLC25A38 | c.743A>C (p.Lys248Thr) c.740A>C (p.Lys247Thr) c.737A>C (p.Lys246Thr) c.*88A>C (n.*88A>C) c.791A>C (p.Lys264Thr) c.779A>C (p.Lys260Thr) c.773A>C (p.Lys258Thr) c.611A>C (p.Lys204Thr) c.626-1823A>C (n.626-1823A>C) | |
3 | g.39394575A>G | CA352205844 | SLC25A38 | c.743A>G (p.Lys248Arg) c.740A>G (p.Lys247Arg) c.737A>G (p.Lys246Arg) c.*88A>G (n.*88A>G) c.791A>G (p.Lys264Arg) c.779A>G (p.Lys260Arg) c.773A>G (p.Lys258Arg) c.611A>G (p.Lys204Arg) c.626-1823A>G (n.626-1823A>G) | gnomAD v4 |
3 | g.39394575A>T | CA352205845 | SLC25A38 | c.743A>T (p.Lys248Ile) c.740A>T (p.Lys247Ile) c.737A>T (p.Lys246Ile) c.*88A>T (n.*88A>T) c.791A>T (p.Lys264Ile) c.779A>T (p.Lys260Ile) c.773A>T (p.Lys258Ile) c.611A>T (p.Lys204Ile) c.626-1823A>T (n.626-1823A>T) | |
3 | g.39394578_39394581del | CA2755919946 | SLC25A38 | c.741+2_741+5del c.738+2_738+5del c.*89+2_*89+5del c.792+2_792+5del c.780+2_780+5del c.774+2_774+5del c.612+2_612+5del c.626-1820_626-1817del (n.626-1820_626-1817del) | |
3 | g.39394576A>C | CA352205846 | SLC25A38 | c.744A>C (p.Lys248Asn) c.741A>C (p.Lys247Asn) c.738A>C (p.Lys246Asn) c.*89A>C (n.*89A>C) c.792A>C (p.Lys264Asn) c.780A>C (p.Lys260Asn) c.774A>C (p.Lys258Asn) c.612A>C (p.Lys204Asn) c.626-1822A>C (n.626-1822A>C) | |
3 | g.39394576A>G | CA433165003 | SLC25A38 | c.744A>G (p.Lys248=) c.741A>G (p.Lys247=) c.738A>G (p.Lys246=) c.*89A>G (n.*89A>G) c.792A>G (p.Lys264=) c.780A>G (p.Lys260=) c.774A>G (p.Lys258=) c.612A>G (p.Lys204=) c.626-1822A>G (n.626-1822A>G) | |
3 | g.39394576A>T | CA352205847 | SLC25A38 | c.744A>T (p.Lys248Asn) c.741A>T (p.Lys247Asn) c.738A>T (p.Lys246Asn) c.*89A>T (n.*89A>T) c.792A>T (p.Lys264Asn) c.780A>T (p.Lys260Asn) c.774A>T (p.Lys258Asn) c.612A>T (p.Lys204Asn) c.626-1822A>T (n.626-1822A>T) | |
3 | g.39394577G>A | CA352205848 | SLC25A38 | c.741+1G>A (n.741+1G>A) c.738+1G>A (n.738+1G>A) c.*89+1G>A (n.*89+1G>A) c.792+1G>A (n.792+1G>A) c.780+1G>A (n.780+1G>A) c.774+1G>A (n.774+1G>A) c.612+1G>A (n.612+1G>A) c.626-1821G>A (n.626-1821G>A) | |
3 | g.39394577G>C | CA352205851 | SLC25A38 | c.741+1G>C (n.741+1G>C) c.738+1G>C (n.738+1G>C) c.*89+1G>C (n.*89+1G>C) c.792+1G>C (n.792+1G>C) c.780+1G>C (n.780+1G>C) c.774+1G>C (n.774+1G>C) c.612+1G>C (n.612+1G>C) c.626-1821G>C (n.626-1821G>C) | |
3 | g.39394577G>T | CA352205854 | SLC25A38 | c.741+1G>T (n.741+1G>T) c.738+1G>T (n.738+1G>T) c.*89+1G>T (n.*89+1G>T) c.792+1G>T (n.792+1G>T) c.780+1G>T (n.780+1G>T) c.774+1G>T (n.774+1G>T) c.612+1G>T (n.612+1G>T) c.626-1821G>T (n.626-1821G>T) | |
3 | g.39394578T>A | CA352205862 | SLC25A38 | c.741+2T>A (n.741+2T>A) c.738+2T>A (n.738+2T>A) c.*89+2T>A (n.*89+2T>A) c.792+2T>A (n.792+2T>A) c.780+2T>A (n.780+2T>A) c.774+2T>A (n.774+2T>A) c.612+2T>A (n.612+2T>A) c.626-1820T>A (n.626-1820T>A) | |
3 | g.39394578T>C | CA2327547 | SLC25A38 | c.741+2T>C (n.741+2T>C) c.738+2T>C (n.738+2T>C) c.*89+2T>C (n.*89+2T>C) c.792+2T>C (n.792+2T>C) c.780+2T>C (n.780+2T>C) c.774+2T>C (n.774+2T>C) c.612+2T>C (n.612+2T>C) c.626-1820T>C (n.626-1820T>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
3 | g.39394578T>G | CA352205858 | SLC25A38 | c.741+2T>G (n.741+2T>G) c.738+2T>G (n.738+2T>G) c.*89+2T>G (n.*89+2T>G) c.792+2T>G (n.792+2T>G) c.780+2T>G (n.780+2T>G) c.774+2T>G (n.774+2T>G) c.612+2T>G (n.612+2T>G) c.626-1820T>G (n.626-1820T>G) | |
3 | g.39394578T= | CA1358939335 | SLC25A38 | c.741+2T= (n.741+2T=) c.738+2T= (n.738+2T=) c.*89+2T= (n.*89+2T=) c.792+2T= (n.792+2T=) c.780+2T= (n.780+2T=) c.774+2T= (n.774+2T=) c.612+2T= (n.612+2T=) c.626-1820T= (n.626-1820T=) | |
3 | g.39394580A>C | CA2665163045 | SLC25A38 | c.741+4A>C (n.741+4A>C) c.738+4A>C (n.738+4A>C) c.*89+4A>C (n.*89+4A>C) c.792+4A>C (n.792+4A>C) c.780+4A>C (n.780+4A>C) c.774+4A>C (n.774+4A>C) c.612+4A>C (n.612+4A>C) c.626-1818A>C (n.626-1818A>C) | gnomAD v4 |
3 | g.39394581G>C | CA2499216774 | SLC25A38 | c.741+5G>C (n.741+5G>C) c.738+5G>C (n.738+5G>C) c.*89+5G>C (n.*89+5G>C) c.792+5G>C (n.792+5G>C) c.780+5G>C (n.780+5G>C) c.774+5G>C (n.774+5G>C) c.612+5G>C (n.612+5G>C) c.626-1817G>C (n.626-1817G>C) | ClinVar dbSNP |
3 | g.39394582A>C | CA2665163046 | SLC25A38 | c.741+6A>C (n.741+6A>C) c.738+6A>C (n.738+6A>C) c.*89+6A>C (n.*89+6A>C) c.792+6A>C (n.792+6A>C) c.780+6A>C (n.780+6A>C) c.774+6A>C (n.774+6A>C) c.612+6A>C (n.612+6A>C) c.626-1816A>C (n.626-1816A>C) | gnomAD v4 |
3 | g.39394583C>G | CA2755919947 | SLC25A38 | c.741+7C>G (n.741+7C>G) c.738+7C>G (n.738+7C>G) c.*89+7C>G (n.*89+7C>G) c.792+7C>G (n.792+7C>G) c.780+7C>G (n.780+7C>G) c.774+7C>G (n.774+7C>G) c.612+7C>G (n.612+7C>G) c.626-1815C>G (n.626-1815C>G) | |
3 | g.39394585A>T | CA2665163047 | SLC25A38 | c.741+9A>T (n.741+9A>T) c.738+9A>T (n.738+9A>T) c.*89+9A>T (n.*89+9A>T) c.792+9A>T (n.792+9A>T) c.780+9A>T (n.780+9A>T) c.774+9A>T (n.774+9A>T) c.612+9A>T (n.612+9A>T) c.626-1813A>T (n.626-1813A>T) | gnomAD v4 |
3 | g.39394586C= | CA1358939336 | SLC25A38 | c.741+10C= (n.741+10C=) c.738+10C= (n.738+10C=) c.*89+10C= (n.*89+10C=) c.792+10C= (n.792+10C=) c.780+10C= (n.780+10C=) c.774+10C= (n.774+10C=) c.612+10C= (n.612+10C=) c.626-1812C= (n.626-1812C=) | |
3 | g.39394586C>G | CA542617041 | SLC25A38 | c.741+10C>G (n.741+10C>G) c.738+10C>G (n.738+10C>G) c.*89+10C>G (n.*89+10C>G) c.792+10C>G (n.792+10C>G) c.780+10C>G (n.780+10C>G) c.774+10C>G (n.774+10C>G) c.612+10C>G (n.612+10C>G) c.626-1812C>G (n.626-1812C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39394586C>T | CA2665163050 | SLC25A38 | c.741+10C>T (n.741+10C>T) c.738+10C>T (n.738+10C>T) c.*89+10C>T (n.*89+10C>T) c.792+10C>T (n.792+10C>T) c.780+10C>T (n.780+10C>T) c.774+10C>T (n.774+10C>T) c.612+10C>T (n.612+10C>T) c.626-1812C>T (n.626-1812C>T) | gnomAD v4 |
3 | g.39394587A>G | CA2665163051 | SLC25A38 | c.741+11A>G (n.741+11A>G) c.738+11A>G (n.738+11A>G) c.*89+11A>G (n.*89+11A>G) c.792+11A>G (n.792+11A>G) c.780+11A>G (n.780+11A>G) c.774+11A>G (n.774+11A>G) c.612+11A>G (n.612+11A>G) c.626-1811A>G (n.626-1811A>G) | gnomAD v4 |
3 | g.39394588A>G | CA2739279774 | SLC25A38 | c.741+12A>G (n.741+12A>G) c.738+12A>G (n.738+12A>G) c.*89+12A>G (n.*89+12A>G) c.792+12A>G (n.792+12A>G) c.780+12A>G (n.780+12A>G) c.774+12A>G (n.774+12A>G) c.612+12A>G (n.612+12A>G) c.626-1810A>G (n.626-1810A>G) | ClinVar |
3 | g.39394592A>G | CA2665163052 | SLC25A38 | c.741+16A>G (n.741+16A>G) c.738+16A>G (n.738+16A>G) c.*89+16A>G (n.*89+16A>G) c.792+16A>G (n.792+16A>G) c.780+16A>G (n.780+16A>G) c.774+16A>G (n.774+16A>G) c.612+16A>G (n.612+16A>G) c.626-1806A>G (n.626-1806A>G) | gnomAD v4 |
3 | g.39394594G>A | CA73040732 | SLC25A38 | c.741+18G>A (n.741+18G>A) c.738+18G>A (n.738+18G>A) c.*89+18G>A (n.*89+18G>A) c.792+18G>A (n.792+18G>A) c.780+18G>A (n.780+18G>A) c.774+18G>A (n.774+18G>A) c.612+18G>A (n.612+18G>A) c.626-1804G>A (n.626-1804G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39394594G>C | CA2327548 | SLC25A38 | c.741+18G>C (n.741+18G>C) c.738+18G>C (n.738+18G>C) c.*89+18G>C (n.*89+18G>C) c.792+18G>C (n.792+18G>C) c.780+18G>C (n.780+18G>C) c.774+18G>C (n.774+18G>C) c.612+18G>C (n.612+18G>C) c.626-1804G>C (n.626-1804G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39394594G= | CA1358939337 | SLC25A38 | c.741+18G= (n.741+18G=) c.738+18G= (n.738+18G=) c.*89+18G= (n.*89+18G=) c.792+18G= (n.792+18G=) c.780+18G= (n.780+18G=) c.774+18G= (n.774+18G=) c.612+18G= (n.612+18G=) c.626-1804G= (n.626-1804G=) | |
3 | g.39394597C>A | CA2665163057 | SLC25A38 | c.741+21C>A (n.741+21C>A) c.738+21C>A (n.738+21C>A) c.*89+21C>A (n.*89+21C>A) c.792+21C>A (n.792+21C>A) c.780+21C>A (n.780+21C>A) c.774+21C>A (n.774+21C>A) c.612+21C>A (n.612+21C>A) c.626-1801C>A (n.626-1801C>A) | gnomAD v4 |
3 | g.39394597C= | CA1358939338 | SLC25A38 | c.741+21C= (n.741+21C=) c.738+21C= (n.738+21C=) c.*89+21C= (n.*89+21C=) c.792+21C= (n.792+21C=) c.780+21C= (n.780+21C=) c.774+21C= (n.774+21C=) c.612+21C= (n.612+21C=) c.626-1801C= (n.626-1801C=) | |
3 | g.39394597C>T | CA542617042 | SLC25A38 | c.741+21C>T (n.741+21C>T) c.738+21C>T (n.738+21C>T) c.*89+21C>T (n.*89+21C>T) c.792+21C>T (n.792+21C>T) c.780+21C>T (n.780+21C>T) c.774+21C>T (n.774+21C>T) c.612+21C>T (n.612+21C>T) c.626-1801C>T (n.626-1801C>T) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.39394599G>A | CA2327549 | SLC25A38 | c.741+23G>A (n.741+23G>A) c.738+23G>A (n.738+23G>A) c.*89+23G>A (n.*89+23G>A) c.792+23G>A (n.792+23G>A) c.780+23G>A (n.780+23G>A) c.774+23G>A (n.774+23G>A) c.612+23G>A (n.612+23G>A) c.626-1799G>A (n.626-1799G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39394599G>C | CA2665163058 | SLC25A38 | c.741+23G>C (n.741+23G>C) c.738+23G>C (n.738+23G>C) c.*89+23G>C (n.*89+23G>C) c.792+23G>C (n.792+23G>C) c.780+23G>C (n.780+23G>C) c.774+23G>C (n.774+23G>C) c.612+23G>C (n.612+23G>C) c.626-1799G>C (n.626-1799G>C) | gnomAD v4 |
3 | g.39394599G= | CA1358939339 | SLC25A38 | c.741+23G= (n.741+23G=) c.738+23G= (n.738+23G=) c.*89+23G= (n.*89+23G=) c.792+23G= (n.792+23G=) c.780+23G= (n.780+23G=) c.774+23G= (n.774+23G=) c.612+23G= (n.612+23G=) c.626-1799G= (n.626-1799G=) | |
3 | g.39394600G>C | CA2665163060 | SLC25A38 | c.741+24G>C (n.741+24G>C) c.738+24G>C (n.738+24G>C) c.*89+24G>C (n.*89+24G>C) c.792+24G>C (n.792+24G>C) c.780+24G>C (n.780+24G>C) c.774+24G>C (n.774+24G>C) c.612+24G>C (n.612+24G>C) c.626-1798G>C (n.626-1798G>C) | gnomAD v4 |
3 | g.39394602T>C | CA2665163061 | SLC25A38 | c.741+26T>C (n.741+26T>C) c.738+26T>C (n.738+26T>C) c.*89+26T>C (n.*89+26T>C) c.792+26T>C (n.792+26T>C) c.780+26T>C (n.780+26T>C) c.774+26T>C (n.774+26T>C) c.612+26T>C (n.612+26T>C) c.626-1796T>C (n.626-1796T>C) | gnomAD v4 |
3 | g.39394603C>A | CA2665163062 | SLC25A38 | c.741+27C>A (n.741+27C>A) c.738+27C>A (n.738+27C>A) c.*89+27C>A (n.*89+27C>A) c.792+27C>A (n.792+27C>A) c.780+27C>A (n.780+27C>A) c.774+27C>A (n.774+27C>A) c.612+27C>A (n.612+27C>A) c.626-1795C>A (n.626-1795C>A) | gnomAD v4 |
3 | g.39394603C= | CA1358939340 | SLC25A38 | c.741+27C= (n.741+27C=) c.738+27C= (n.738+27C=) c.*89+27C= (n.*89+27C=) c.792+27C= (n.792+27C=) c.780+27C= (n.780+27C=) c.774+27C= (n.774+27C=) c.612+27C= (n.612+27C=) c.626-1795C= (n.626-1795C=) | |
3 | g.39394603C>G | CA542617043 | SLC25A38 | c.741+27C>G (n.741+27C>G) c.738+27C>G (n.738+27C>G) c.*89+27C>G (n.*89+27C>G) c.792+27C>G (n.792+27C>G) c.780+27C>G (n.780+27C>G) c.774+27C>G (n.774+27C>G) c.612+27C>G (n.612+27C>G) c.626-1795C>G (n.626-1795C>G) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.39394605T>G | CA2665163064 | SLC25A38 | c.741+29T>G (n.741+29T>G) c.738+29T>G (n.738+29T>G) c.*89+29T>G (n.*89+29T>G) c.792+29T>G (n.792+29T>G) c.780+29T>G (n.780+29T>G) c.774+29T>G (n.774+29T>G) c.612+29T>G (n.612+29T>G) c.626-1793T>G (n.626-1793T>G) | gnomAD v4 |
3 | g.39394606G>C | CA2665163066 | SLC25A38 | c.741+30G>C (n.741+30G>C) c.738+30G>C (n.738+30G>C) c.*89+30G>C (n.*89+30G>C) c.792+30G>C (n.792+30G>C) c.780+30G>C (n.780+30G>C) c.774+30G>C (n.774+30G>C) c.612+30G>C (n.612+30G>C) c.626-1792G>C (n.626-1792G>C) | gnomAD v4 |
3 | g.39394609_39394611del | CA2665163067 | SLC25A38 | c.741+33_741+35del (n.741+33_741+35del) c.738+33_738+35del (n.738+33_738+35del) c.*89+33_*89+35del (n.*89+33_*89+35del) c.792+33_792+35del (n.792+33_792+35del) c.780+33_780+35del (n.780+33_780+35del) c.774+33_774+35del (n.774+33_774+35del) c.612+33_612+35del (n.612+33_612+35del) c.626-1789_626-1787del (n.626-1789_626-1787del) | gnomAD v4 |
3 | g.39394607T>C | CA542617044 | SLC25A38 | c.741+31T>C (n.741+31T>C) c.738+31T>C (n.738+31T>C) c.*89+31T>C (n.*89+31T>C) c.792+31T>C (n.792+31T>C) c.780+31T>C (n.780+31T>C) c.774+31T>C (n.774+31T>C) c.612+31T>C (n.612+31T>C) c.626-1791T>C (n.626-1791T>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.39394607T= | CA1358939341 | SLC25A38 | c.741+31T= (n.741+31T=) c.738+31T= (n.738+31T=) c.*89+31T= (n.*89+31T=) c.792+31T= (n.792+31T=) c.780+31T= (n.780+31T=) c.774+31T= (n.774+31T=) c.612+31T= (n.612+31T=) c.626-1791T= (n.626-1791T=) | |
3 | g.39394608G>A | CA906961262 | SLC25A38 | c.741+32G>A (n.741+32G>A) c.738+32G>A (n.738+32G>A) c.*89+32G>A (n.*89+32G>A) c.792+32G>A (n.792+32G>A) c.780+32G>A (n.780+32G>A) c.774+32G>A (n.774+32G>A) c.612+32G>A (n.612+32G>A) c.626-1790G>A (n.626-1790G>A) | dbSNP gnomAD v4 |
3 | g.39394608G= | CA1358939342 | SLC25A38 | c.741+32G= (n.741+32G=) c.738+32G= (n.738+32G=) c.*89+32G= (n.*89+32G=) c.792+32G= (n.792+32G=) c.780+32G= (n.780+32G=) c.774+32G= (n.774+32G=) c.612+32G= (n.612+32G=) c.626-1790G= (n.626-1790G=) | |
3 | g.39394609G>C | CA542617045 | SLC25A38 | c.741+33G>C (n.741+33G>C) c.738+33G>C (n.738+33G>C) c.*89+33G>C (n.*89+33G>C) c.792+33G>C (n.792+33G>C) c.780+33G>C (n.780+33G>C) c.774+33G>C (n.774+33G>C) c.612+33G>C (n.612+33G>C) c.626-1789G>C (n.626-1789G>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.39394609G= | CA1358939343 | SLC25A38 | c.741+33G= (n.741+33G=) c.738+33G= (n.738+33G=) c.*89+33G= (n.*89+33G=) c.792+33G= (n.792+33G=) c.780+33G= (n.780+33G=) c.774+33G= (n.774+33G=) c.612+33G= (n.612+33G=) c.626-1789G= (n.626-1789G=) | |
3 | g.39394609G>T | CA73040735 | SLC25A38 | c.741+33G>T (n.741+33G>T) c.738+33G>T (n.738+33G>T) c.*89+33G>T (n.*89+33G>T) c.792+33G>T (n.792+33G>T) c.780+33G>T (n.780+33G>T) c.774+33G>T (n.774+33G>T) c.612+33G>T (n.612+33G>T) c.626-1789G>T (n.626-1789G>T) | dbSNP |
3 | g.39394610T>G | CA2514848843 | SLC25A38 | c.741+34T>G (n.741+34T>G) c.738+34T>G (n.738+34T>G) c.*89+34T>G (n.*89+34T>G) c.792+34T>G (n.792+34T>G) c.780+34T>G (n.780+34T>G) c.774+34T>G (n.774+34T>G) c.612+34T>G (n.612+34T>G) c.626-1788T>G (n.626-1788T>G) | |
3 | g.39394611G>A | CA542617046 | SLC25A38 | c.741+35G>A (n.741+35G>A) c.738+35G>A (n.738+35G>A) c.*89+35G>A (n.*89+35G>A) c.792+35G>A (n.792+35G>A) c.780+35G>A (n.780+35G>A) c.774+35G>A (n.774+35G>A) c.612+35G>A (n.612+35G>A) c.626-1787G>A (n.626-1787G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39394611G= | CA1358939344 | SLC25A38 | c.741+35G= (n.741+35G=) c.738+35G= (n.738+35G=) c.*89+35G= (n.*89+35G=) c.792+35G= (n.792+35G=) c.780+35G= (n.780+35G=) c.774+35G= (n.774+35G=) c.612+35G= (n.612+35G=) c.626-1787G= (n.626-1787G=) | |
3 | g.39394615A= | CA1358939345 | SLC25A38 | c.741+39A= (n.741+39A=) c.738+39A= (n.738+39A=) c.*89+39A= (n.*89+39A=) c.792+39A= (n.792+39A=) c.780+39A= (n.780+39A=) c.774+39A= (n.774+39A=) c.612+39A= (n.612+39A=) c.626-1783A= (n.626-1783A=) | |
3 | g.39394615A>G | CA2327550 | SLC25A38 | c.741+39A>G (n.741+39A>G) c.738+39A>G (n.738+39A>G) c.*89+39A>G (n.*89+39A>G) c.792+39A>G (n.792+39A>G) c.780+39A>G (n.780+39A>G) c.774+39A>G (n.774+39A>G) c.612+39A>G (n.612+39A>G) c.626-1783A>G (n.626-1783A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.39394616A= | CA1358939346 | SLC25A38 | c.741+40A= (n.741+40A=) c.738+40A= (n.738+40A=) c.*89+40A= (n.*89+40A=) c.792+40A= (n.792+40A=) c.780+40A= (n.780+40A=) c.774+40A= (n.774+40A=) c.612+40A= (n.612+40A=) c.626-1782A= (n.626-1782A=) | |
3 | g.39394616A>C | CA2327551 | SLC25A38 | c.741+40A>C (n.741+40A>C) c.738+40A>C (n.738+40A>C) c.*89+40A>C (n.*89+40A>C) c.792+40A>C (n.792+40A>C) c.780+40A>C (n.780+40A>C) c.774+40A>C (n.774+40A>C) c.612+40A>C (n.612+40A>C) c.626-1782A>C (n.626-1782A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39394616A>G | CA2740407068 | SLC25A38 | c.741+40A>G (n.741+40A>G) c.738+40A>G (n.738+40A>G) c.*89+40A>G (n.*89+40A>G) c.792+40A>G (n.792+40A>G) c.780+40A>G (n.780+40A>G) c.774+40A>G (n.774+40A>G) c.612+40A>G (n.612+40A>G) c.626-1782A>G (n.626-1782A>G) | |
3 | g.39394617G>A | CA542617047 | SLC25A38 | c.741+41G>A (n.741+41G>A) c.738+41G>A (n.738+41G>A) c.*89+41G>A (n.*89+41G>A) c.792+41G>A (n.792+41G>A) c.780+41G>A (n.780+41G>A) c.774+41G>A (n.774+41G>A) c.612+41G>A (n.612+41G>A) c.626-1781G>A (n.626-1781G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39394617G= | CA1358939347 | SLC25A38 | c.741+41G= (n.741+41G=) c.738+41G= (n.738+41G=) c.*89+41G= (n.*89+41G=) c.792+41G= (n.792+41G=) c.780+41G= (n.780+41G=) c.774+41G= (n.774+41G=) c.612+41G= (n.612+41G=) c.626-1781G= (n.626-1781G=) | |
3 | g.39394618G>A | CA542617048 | SLC25A38 | c.741+42G>A (n.741+42G>A) c.738+42G>A (n.738+42G>A) c.*89+42G>A (n.*89+42G>A) c.792+42G>A (n.792+42G>A) c.780+42G>A (n.780+42G>A) c.774+42G>A (n.774+42G>A) c.612+42G>A (n.612+42G>A) c.626-1780G>A (n.626-1780G>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.39394618G= | CA1358939348 | SLC25A38 | c.741+42G= (n.741+42G=) c.738+42G= (n.738+42G=) c.*89+42G= (n.*89+42G=) c.792+42G= (n.792+42G=) c.780+42G= (n.780+42G=) c.774+42G= (n.774+42G=) c.612+42G= (n.612+42G=) c.626-1780G= (n.626-1780G=) | |
3 | g.39394619del | CA2665163086 | SLC25A38 | c.741+43del (n.741+43del) c.738+43del (n.738+43del) c.*89+43del (n.*89+43del) c.792+43del (n.792+43del) c.780+43del (n.780+43del) c.774+43del (n.774+43del) c.612+43del (n.612+43del) c.626-1779del (n.626-1779del) | gnomAD v4 |
3 | g.39394620T>C | CA542617049 | SLC25A38 | c.741+44T>C (n.741+44T>C) c.738+44T>C (n.738+44T>C) c.*89+44T>C (n.*89+44T>C) c.792+44T>C (n.792+44T>C) c.780+44T>C (n.780+44T>C) c.774+44T>C (n.774+44T>C) c.612+44T>C (n.612+44T>C) c.626-1778T>C (n.626-1778T>C) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.39394620T= | CA1358939349 | SLC25A38 | c.741+44T= (n.741+44T=) c.738+44T= (n.738+44T=) c.*89+44T= (n.*89+44T=) c.792+44T= (n.792+44T=) c.780+44T= (n.780+44T=) c.774+44T= (n.774+44T=) c.612+44T= (n.612+44T=) c.626-1778T= (n.626-1778T=) | |
3 | g.39394621C>A | CA542617050 | SLC25A38 | c.741+45C>A (n.741+45C>A) c.738+45C>A (n.738+45C>A) c.*89+45C>A (n.*89+45C>A) c.792+45C>A (n.792+45C>A) c.780+45C>A (n.780+45C>A) c.774+45C>A (n.774+45C>A) c.612+45C>A (n.612+45C>A) c.626-1777C>A (n.626-1777C>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.39394621C= | CA1358939350 | SLC25A38 | c.741+45C= (n.741+45C=) c.738+45C= (n.738+45C=) c.*89+45C= (n.*89+45C=) c.792+45C= (n.792+45C=) c.780+45C= (n.780+45C=) c.774+45C= (n.774+45C=) c.612+45C= (n.612+45C=) c.626-1777C= (n.626-1777C=) | |
3 | g.39394621C>T | CA542617051 | SLC25A38 | c.741+45C>T (n.741+45C>T) c.738+45C>T (n.738+45C>T) c.*89+45C>T (n.*89+45C>T) c.792+45C>T (n.792+45C>T) c.780+45C>T (n.780+45C>T) c.774+45C>T (n.774+45C>T) c.612+45C>T (n.612+45C>T) c.626-1777C>T (n.626-1777C>T) | dbSNP gnomAD v2 |
3 | g.39394624T>C | CA2577557393 | SLC25A38 | c.741+48T>C (n.741+48T>C) c.738+48T>C (n.738+48T>C) c.*89+48T>C (n.*89+48T>C) c.792+48T>C (n.792+48T>C) c.780+48T>C (n.780+48T>C) c.774+48T>C (n.774+48T>C) c.612+48T>C (n.612+48T>C) c.626-1774T>C (n.626-1774T>C) | gnomAD v4 |
3 | g.39394626_39394628dup | CA2577557394 | SLC25A38 | c.741+50_741+52dup (n.741+50_741+52dup) c.738+50_738+52dup (n.738+50_738+52dup) c.*89+50_*89+52dup (n.*89+50_*89+52dup) c.792+50_792+52dup (n.792+50_792+52dup) c.780+50_780+52dup (n.780+50_780+52dup) c.774+50_774+52dup (n.774+50_774+52dup) c.612+50_612+52dup (n.612+50_612+52dup) c.626-1772_626-1770dup (n.626-1772_626-1770dup) | |
3 | g.39394625_39394626insAAACACC | CA2665163092 | SLC25A38 | c.741+49_741+50insAAACACC (n.741+49_741+50insAAACACC) c.738+49_738+50insAAACACC (n.738+49_738+50insAAACACC) c.*89+49_*89+50insAAACACC (n.*89+49_*89+50insAAACACC) c.792+49_792+50insAAACACC (n.792+49_792+50insAAACACC) c.780+49_780+50insAAACACC (n.780+49_780+50insAAACACC) c.774+49_774+50insAAACACC (n.774+49_774+50insAAACACC) c.612+49_612+50insAAACACC (n.612+49_612+50insAAACACC) c.626-1773_626-1772insAAACACC (n.626-1773_626-1772insAAACACC) | gnomAD v4 |
3 | g.39394626T>A | CA2665163093 | SLC25A38 | c.741+50T>A (n.741+50T>A) c.738+50T>A (n.738+50T>A) c.*89+50T>A (n.*89+50T>A) c.792+50T>A (n.792+50T>A) c.780+50T>A (n.780+50T>A) c.774+50T>A (n.774+50T>A) c.612+50T>A (n.612+50T>A) c.626-1772T>A (n.626-1772T>A) | gnomAD v4 |
3 | g.39394628del | CA2665163094 | SLC25A38 | c.741+52del (n.741+52del) c.738+52del (n.738+52del) c.*89+52del (n.*89+52del) c.792+52del (n.792+52del) c.780+52del (n.780+52del) c.774+52del (n.774+52del) c.612+52del (n.612+52del) c.626-1770del (n.626-1770del) | gnomAD v4 |
3 | g.39394629A= | CA1358939351 | SLC25A38 | c.741+53A= (n.741+53A=) c.738+53A= (n.738+53A=) c.*89+53A= (n.*89+53A=) c.792+53A= (n.792+53A=) c.780+53A= (n.780+53A=) c.774+53A= (n.774+53A=) c.612+53A= (n.612+53A=) c.626-1769A= (n.626-1769A=) | |
3 | g.39394629A>G | CA906961276 | SLC25A38 | c.741+53A>G (n.741+53A>G) c.738+53A>G (n.738+53A>G) c.*89+53A>G (n.*89+53A>G) c.792+53A>G (n.792+53A>G) c.780+53A>G (n.780+53A>G) c.774+53A>G (n.774+53A>G) c.612+53A>G (n.612+53A>G) c.626-1769A>G (n.626-1769A>G) | dbSNP |
3 | g.39394630_39394631insTA | CA2665163097 | SLC25A38 | c.741+54_741+55insTA (n.741+54_741+55insTA) c.738+54_738+55insTA (n.738+54_738+55insTA) c.*89+54_*89+55insTA (n.*89+54_*89+55insTA) c.792+54_792+55insTA (n.792+54_792+55insTA) c.780+54_780+55insTA (n.780+54_780+55insTA) c.774+54_774+55insTA (n.774+54_774+55insTA) c.612+54_612+55insTA (n.612+54_612+55insTA) c.626-1768_626-1767insTA (n.626-1768_626-1767insTA) | gnomAD v4 |
3 | g.39394633_39394638del | CA2665163096 | SLC25A38 | c.741+57_741+62del (n.741+57_741+62del) c.738+57_738+62del (n.738+57_738+62del) c.*89+57_*89+62del (n.*89+57_*89+62del) c.792+57_792+62del (n.792+57_792+62del) c.780+57_780+62del (n.780+57_780+62del) c.774+57_774+62del (n.774+57_774+62del) c.612+57_612+62del (n.612+57_612+62del) c.626-1765_626-1760del (n.626-1765_626-1760del) | gnomAD v4 |
3 | g.39394632G>A | CA73040738 | SLC25A38 | c.741+56G>A (n.741+56G>A) c.738+56G>A (n.738+56G>A) c.*89+56G>A (n.*89+56G>A) c.792+56G>A (n.792+56G>A) c.780+56G>A (n.780+56G>A) c.774+56G>A (n.774+56G>A) c.612+56G>A (n.612+56G>A) c.626-1766G>A (n.626-1766G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.39394632G= | CA1358939352 | SLC25A38 | c.741+56G= (n.741+56G=) c.738+56G= (n.738+56G=) c.*89+56G= (n.*89+56G=) c.792+56G= (n.792+56G=) c.780+56G= (n.780+56G=) c.774+56G= (n.774+56G=) c.612+56G= (n.612+56G=) c.626-1766G= (n.626-1766G=) | |
3 | g.39394633C>A | CA2665163102 | SLC25A38 | c.741+57C>A (n.741+57C>A) c.738+57C>A (n.738+57C>A) c.*89+57C>A (n.*89+57C>A) c.792+57C>A (n.792+57C>A) c.780+57C>A (n.780+57C>A) c.774+57C>A (n.774+57C>A) c.612+57C>A (n.612+57C>A) c.626-1765C>A (n.626-1765C>A) | gnomAD v4 |