Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41352972_41352975del | CA2585297132 | TGFB1,TMEM91 | c.79_82del (p.Ala27ArgfsTer14) c.-30+1770_-30+1773del (n.-30+1770_-30+1773del) n.350+1770_350+1773del | gnomAD v4 |
19 | g.41352971C>A | CA406006316 | TGFB1,TMEM91 | c.74G>T (p.Arg25Leu) c.-30+1769C>A (n.-30+1769C>A) n.350+1769C>A | gnomAD v4 |
19 | g.41352971C= | CA2336426193 | TGFB1,TMEM91 | c.74G= (p.Arg25=) c.-30+1769C= (n.-30+1769C=) n.350+1769C= | |
19 | g.41352971C>G | CA9460177 | TGFB1,TMEM91 | c.74G>C (p.Arg25Pro) c.-30+1769C>G (n.-30+1769C>G) n.350+1769C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352971C>T | CA406006321 | TGFB1,TMEM91 | c.74G>A (p.Arg25Gln) c.-30+1769C>T (n.-30+1769C>T) n.350+1769C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352972G>A | CA406006326 | TGFB1,TMEM91 | c.73C>T (p.Arg25Trp) c.-30+1770G>A (n.-30+1770G>A) n.350+1770G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352972G>C | CA406006328 | TGFB1,TMEM91 | c.73C>G (p.Arg25Gly) c.-30+1770G>C (n.-30+1770G>C) n.350+1770G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352972G= | CA2336426194 | TGFB1,TMEM91 | c.73C= (p.Arg25=) c.-30+1770G= (n.-30+1770G=) n.350+1770G= | |
19 | g.41352972G>T | CA507690344 | TGFB1,TMEM91 | c.73C>A (p.Arg25=) c.-30+1770G>T (n.-30+1770G>T) n.350+1770G>T | dbSNP gnomAD v4 |
19 | g.41352973G>A | CA507690345 | TGFB1,TMEM91 | c.72C>T (p.Gly24=) c.-30+1771G>A (n.-30+1771G>A) n.350+1771G>A | gnomAD v4 |
19 | g.41352973G>C | CA507690346 | TGFB1,TMEM91 | c.72C>G (p.Gly24=) c.-30+1771G>C (n.-30+1771G>C) n.350+1771G>C | |
19 | g.41352973G= | CA2336426195 | TGFB1,TMEM91 | c.72C= (p.Gly24=) c.-30+1771G= (n.-30+1771G=) n.350+1771G= | |
19 | g.41352973G>T | CA9460178 | TGFB1,TMEM91 | c.72C>A (p.Gly24=) c.-30+1771G>T (n.-30+1771G>T) n.350+1771G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352974C>A | CA406006332 | TGFB1,TMEM91 | c.71G>T (p.Gly24Val) c.-30+1772C>A (n.-30+1772C>A) n.350+1772C>A | gnomAD v4 |
19 | g.41352974C= | CA2336426196 | TGFB1,TMEM91 | c.71G= (p.Gly24=) c.-30+1772C= (n.-30+1772C=) n.350+1772C= | |
19 | g.41352974C>G | CA406006334 | TGFB1,TMEM91 | c.71G>C (p.Gly24Ala) c.-30+1772C>G (n.-30+1772C>G) n.350+1772C>G | |
19 | g.41352974C>T | CA406006330 | TGFB1,TMEM91 | c.71G>A (p.Gly24Asp) c.-30+1772C>T (n.-30+1772C>T) n.350+1772C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352978_41352990del | CA2585297133 | TGFB1,TMEM91 | c.59_71del (p.Val20AlafsTer18) c.-30+1776_-30+1788del (n.-30+1776_-30+1788del) n.350+1776_350+1788del | gnomAD v4 |
19 | g.41352975C>A | CA406006335 | TGFB1,TMEM91 | c.70G>T (p.Gly24Cys) c.-30+1773C>A (n.-30+1773C>A) n.350+1773C>A | gnomAD v4 |
19 | g.41352975C= | CA2336426197 | TGFB1,TMEM91 | c.70G= (p.Gly24=) c.-30+1773C= (n.-30+1773C=) n.350+1773C= | |
19 | g.41352975C>G | CA406006340 | TGFB1,TMEM91 | c.70G>C (p.Gly24Arg) c.-30+1773C>G (n.-30+1773C>G) n.350+1773C>G | gnomAD v4 |
19 | g.41352975C>T | CA406006337 | TGFB1,TMEM91 | c.70G>A (p.Gly24Ser) c.-30+1773C>T (n.-30+1773C>T) n.350+1773C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41352976A>C | CA507690350 | TGFB1,TMEM91 | c.69T>G (p.Pro23=) c.-30+1774A>C (n.-30+1774A>C) n.350+1774A>C | |
19 | g.41352976A>G | CA507690354 | TGFB1,TMEM91 | c.69T>C (p.Pro23=) c.-30+1774A>G (n.-30+1774A>G) n.350+1774A>G | gnomAD v4 |
19 | g.41352976A>T | CA507690352 | TGFB1,TMEM91 | c.69T>A (p.Pro23=) c.-30+1774A>T (n.-30+1774A>T) n.350+1774A>T | |
19 | g.41352977G>A | CA406006342 | TGFB1,TMEM91 | c.68C>T (p.Pro23Leu) c.-30+1775G>A (n.-30+1775G>A) n.350+1775G>A | dbSNP |
19 | g.41352977G>C | CA406006348 | TGFB1,TMEM91 | c.68C>G (p.Pro23Arg) c.-30+1775G>C (n.-30+1775G>C) n.350+1775G>C | |
19 | g.41352977G>T | CA406006346 | TGFB1,TMEM91 | c.68C>A (p.Pro23His) c.-30+1775G>T (n.-30+1775G>T) n.350+1775G>T | gnomAD v4 |
19 | g.41352978G>A | CA406006349 | TGFB1,TMEM91 | c.67C>T (p.Pro23Ser) c.-30+1776G>A (n.-30+1776G>A) n.350+1776G>A | gnomAD v4 |
19 | g.41352978G>C | CA406006351 | TGFB1,TMEM91 | c.67C>G (p.Pro23Ala) c.-30+1776G>C (n.-30+1776G>C) n.350+1776G>C | gnomAD v4 |
19 | g.41352978G>T | CA406006353 | TGFB1,TMEM91 | c.67C>A (p.Pro23Thr) c.-30+1776G>T (n.-30+1776G>T) n.350+1776G>T | gnomAD v4 |
19 | g.41352979C>A | CA507690362 | TGFB1,TMEM91 | c.66G>T (p.Thr22=) c.-30+1777C>A (n.-30+1777C>A) n.350+1777C>A | gnomAD v4 |
19 | g.41352979C>G | CA507690364 | TGFB1,TMEM91 | c.66G>C (p.Thr22=) c.-30+1777C>G (n.-30+1777C>G) n.350+1777C>G | gnomAD v4 |
19 | g.41352979C>T | CA507690366 | TGFB1,TMEM91 | c.66G>A (p.Thr22=) c.-30+1777C>T (n.-30+1777C>T) n.350+1777C>T | gnomAD v4 |
19 | g.41352980G>A | CA406006355 | TGFB1,TMEM91 | c.65C>T (p.Thr22Met) c.-30+1778G>A (n.-30+1778G>A) n.350+1778G>A | gnomAD v4 |
19 | g.41352980G>C | CA406006356 | TGFB1,TMEM91 | c.65C>G (p.Thr22Arg) c.-30+1778G>C (n.-30+1778G>C) n.350+1778G>C | gnomAD v4 |
19 | g.41352980G>T | CA406006357 | TGFB1,TMEM91 | c.65C>A (p.Thr22Lys) c.-30+1778G>T (n.-30+1778G>T) n.350+1778G>T | gnomAD v4 |
19 | g.41352981T>A | CA406006362 | TGFB1,TMEM91 | c.64A>T (p.Thr22Ser) c.-30+1779T>A (n.-30+1779T>A) n.350+1779T>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41352981T>C | CA406006364 | TGFB1,TMEM91 | c.64A>G (p.Thr22Ala) c.-30+1779T>C (n.-30+1779T>C) n.350+1779T>C | |
19 | g.41352981T>G | CA406006365 | TGFB1,TMEM91 | c.64A>C (p.Thr22Pro) c.-30+1779T>G (n.-30+1779T>G) n.350+1779T>G | dbSNP gnomAD v4 |
19 | g.41352981T= | CA2336426198 | TGFB1,TMEM91 | c.64A= (p.Thr22=) c.-30+1779T= (n.-30+1779T=) n.350+1779T= | |
19 | g.41352982C>A | CA507690378 | TGFB1,TMEM91 | c.63G>T (p.Leu21=) c.-30+1780C>A (n.-30+1780C>A) n.350+1780C>A | gnomAD v4 |
19 | g.41352982C>G | CA507690382 | TGFB1,TMEM91 | c.63G>C (p.Leu21=) c.-30+1780C>G (n.-30+1780C>G) n.350+1780C>G | |
19 | g.41352982C>T | CA507690381 | TGFB1,TMEM91 | c.63G>A (p.Leu21=) c.-30+1780C>T (n.-30+1780C>T) n.350+1780C>T | gnomAD v4 |
19 | g.41352983A= | CA2336426199 | TGFB1,TMEM91 | c.62T= (p.Leu21=) c.-30+1781A= (n.-30+1781A=) n.350+1781A= | |
19 | g.41352983A>C | CA406006366 | TGFB1,TMEM91 | c.62T>G (p.Leu21Arg) c.-30+1781A>C (n.-30+1781A>C) n.350+1781A>C | |
19 | g.41352983A>G | CA9460179 | TGFB1,TMEM91 | c.62T>C (p.Leu21Pro) c.-30+1781A>G (n.-30+1781A>G) n.350+1781A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.41352983A>T | CA406006367 | TGFB1,TMEM91 | c.62T>A (p.Leu21Gln) c.-30+1781A>T (n.-30+1781A>T) n.350+1781A>T | gnomAD v4 |
19 | g.41352984G>A | CA507690386 | TGFB1,TMEM91 | c.61C>T (p.Leu21=) c.-30+1782G>A (n.-30+1782G>A) n.350+1782G>A | gnomAD v4 |
19 | g.41352984G>C | CA406006369 | TGFB1,TMEM91 | c.61C>G (p.Leu21Val) c.-30+1782G>C (n.-30+1782G>C) n.350+1782G>C |