Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 | |
19 | g.41352984G>T | CA406006371 | TGFB1,TMEM91 | c.61C>A (p.Leu21Met) c.-30+1782G>T (n.-30+1782G>T) n.350+1782G>T | gnomAD v4 |
19 | g.41352985C>A | CA507690389 | TGFB1,TMEM91 | c.60G>T (p.Val20=) c.-30+1783C>A (n.-30+1783C>A) n.350+1783C>A | gnomAD v4 |
19 | g.41352985C= | CA2336426200 | TGFB1,TMEM91 | c.60G= (p.Val20=) c.-30+1783C= (n.-30+1783C=) n.350+1783C= | |
19 | g.41352985C>G | CA507690390 | TGFB1,TMEM91 | c.60G>C (p.Val20=) c.-30+1783C>G (n.-30+1783C>G) n.350+1783C>G | |
19 | g.41352985C>T | CA507690392 | TGFB1,TMEM91 | c.60G>A (p.Val20=) c.-30+1783C>T (n.-30+1783C>T) n.350+1783C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352986A>C | CA406006373 | TGFB1,TMEM91 | c.59T>G (p.Val20Gly) c.-30+1784A>C (n.-30+1784A>C) n.350+1784A>C | gnomAD v4 |
19 | g.41352986A>G | CA406006374 | TGFB1,TMEM91 | c.59T>C (p.Val20Ala) c.-30+1784A>G (n.-30+1784A>G) n.350+1784A>G | gnomAD v4 |
19 | g.41352986A>T | CA406006376 | TGFB1,TMEM91 | c.59T>A (p.Val20Glu) c.-30+1784A>T (n.-30+1784A>T) n.350+1784A>T | |
19 | g.41352987C>A | CA406006378 | TGFB1,TMEM91 | c.58G>T (p.Val20Leu) c.-30+1785C>A (n.-30+1785C>A) n.350+1785C>A | gnomAD v4 |
19 | g.41352987C= | CA2336426201 | TGFB1,TMEM91 | c.58G= (p.Val20=) c.-30+1785C= (n.-30+1785C=) n.350+1785C= | |
19 | g.41352987C>G | CA9460180 | TGFB1,TMEM91 | c.58G>C (p.Val20Leu) c.-30+1785C>G (n.-30+1785C>G) n.350+1785C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352987C>T | CA406006380 | TGFB1,TMEM91 | c.58G>A (p.Val20Met) c.-30+1785C>T (n.-30+1785C>T) n.350+1785C>T | gnomAD v4 |
19 | g.41352988del | CA2585297134 | TGFB1,TMEM91 | c.58del (p.Val20CysfsTer2) c.-30+1786del (n.-30+1786del) n.350+1786del | gnomAD v4 |
19 | g.41352988C>A | CA507690398 | TGFB1,TMEM91 | c.57G>T (p.Leu19=) c.-30+1786C>A (n.-30+1786C>A) n.350+1786C>A | gnomAD v4 |
19 | g.41352988C>G | CA507690399 | TGFB1,TMEM91 | c.57G>C (p.Leu19=) c.-30+1786C>G (n.-30+1786C>G) n.350+1786C>G | |
19 | g.41352988C>T | CA507690400 | TGFB1,TMEM91 | c.57G>A (p.Leu19=) c.-30+1786C>T (n.-30+1786C>T) n.350+1786C>T | gnomAD v4 |
19 | g.41352989A= | CA2336426202 | TGFB1,TMEM91 | c.56T= (p.Leu19=) c.-30+1787A= (n.-30+1787A=) n.350+1787A= | |
19 | g.41352989A>C | CA406006382 | TGFB1,TMEM91 | c.56T>G (p.Leu19Arg) c.-30+1787A>C (n.-30+1787A>C) n.350+1787A>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.41352989A>G | CA308518726 | TGFB1,TMEM91 | c.56T>C (p.Leu19Pro) c.-30+1787A>G (n.-30+1787A>G) n.350+1787A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352989A>T | CA406006384 | TGFB1,TMEM91 | c.56T>A (p.Leu19Gln) c.-30+1787A>T (n.-30+1787A>T) n.350+1787A>T | gnomAD v4 |
19 | g.41352990G>A | CA9460181 | TGFB1,TMEM91 | c.55C>T (p.Leu19=) c.-30+1788G>A (n.-30+1788G>A) n.350+1788G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41352990G>C | CA406006387 | TGFB1,TMEM91 | c.55C>G (p.Leu19Val) c.-30+1788G>C (n.-30+1788G>C) n.350+1788G>C | gnomAD v4 |
19 | g.41352990G= | CA2336426203 | TGFB1,TMEM91 | c.55C= (p.Leu19=) c.-30+1788G= (n.-30+1788G=) n.350+1788G= | |
19 | g.41352990G>T | CA308518737 | TGFB1,TMEM91 | c.55C>A (p.Leu19Met) c.-30+1788G>T (n.-30+1788G>T) n.350+1788G>T | dbSNP gnomAD v4 |