Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41348123A>C | CA995960947 | TGFB1 | c.516+172T>G (n.516+172T>G) n.47+172T>G | gnomAD v3 gnomAD v4 |
19 | g.41348123A>T | CA995960950 | TGFB1 | c.516+172T>A (n.516+172T>A) n.47+172T>A | gnomAD v3 gnomAD v4 |
19 | g.41348124C>A | CA995960958 | TGFB1 | c.516+171G>T (n.516+171G>T) n.47+171G>T | gnomAD v3 gnomAD v4 |
19 | g.41348124C= | CA2336423847 | TGFB1 | c.516+171G= (n.516+171G=) n.47+171G= | |
19 | g.41348124C>G | CA882319651 | TGFB1 | c.516+171G>C (n.516+171G>C) n.47+171G>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41348124_41348130del | CA995960956 | TGFB1 | c.516+165_516+171del (n.516+165_516+171del) n.47+165_47+171del | gnomAD v3 gnomAD v4 |
19 | g.41348125_41348130del | CA995960955 | TGFB1 | c.516+166_516+171del (n.516+166_516+171del) n.47+166_47+171del | |
19 | g.41348125T>C | CA995960981 | TGFB1 | c.516+170A>G (n.516+170A>G) n.47+170A>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41348125T= | CA2336423848 | TGFB1 | c.516+170A= (n.516+170A=) n.47+170A= | |
19 | g.41348126_41348130delinsGTCTC | CA2336423849 | TGFB1 | c.516+165_516+169delinsGAGAC (n.516+165_516+169delinsGAGAC) n.47+165_47+169delinsGAGAC | |
19 | g.41348127T>A | CA995960987 | TGFB1 | c.516+168A>T (n.516+168A>T) n.47+168A>T | gnomAD v3 gnomAD v4 |
19 | g.41348127T>C | CA2336423851 | TGFB1 | c.516+168A>G (n.516+168A>G) n.47+168A>G | dbSNP |
19 | g.41348127T>G | CA995960989 | TGFB1 | c.516+168A>C (n.516+168A>C) n.47+168A>C | gnomAD v3 gnomAD v4 |
19 | g.41348127T= | CA2336423850 | TGFB1 | c.516+168A= (n.516+168A=) n.47+168A= | |
19 | g.41348127_41348130del | CA633167487 | TGFB1 | c.516+165_516+168del (n.516+165_516+168del) n.47+165_47+168del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41348128C>A | CA633167488 | TGFB1 | c.516+167G>T (n.516+167G>T) n.47+167G>T | gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41348128_41348129delinsCT | CA2336423852 | TGFB1 | c.516+166_516+167delinsAG (n.516+166_516+167delinsAG) n.47+166_47+167delinsAG | |
19 | g.41348128_41348130del | CA995961002 | TGFB1 | c.516+165_516+167del (n.516+165_516+167del) n.47+165_47+167del | gnomAD v3 gnomAD v4 |
19 | g.41348129del | CA995961006 | TGFB1 | c.516+166del (n.516+166del) n.47+166del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41348129T>A | CA995961008 | TGFB1 | c.516+166A>T (n.516+166A>T) n.47+166A>T | gnomAD v3 gnomAD v4 |
19 | g.41348129T= | CA2336423854 | TGFB1 | c.516+166A= (n.516+166A=) n.47+166A= | |
19 | g.41348129_41348130delinsTC | CA2336423853 | TGFB1 | c.516+165_516+166delinsGA (n.516+165_516+166delinsGA) n.47+165_47+166delinsGA | |
19 | g.41348129_41348130insA | CA633167491 | TGFB1 | c.516+165_516+166insT (n.516+165_516+166insT) n.47+165_47+166insT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41348130del | CA633167490 | TGFB1 | c.516+165del (n.516+165del) n.47+165del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41348130C>A | CA633167489 | TGFB1 | c.516+165G>T (n.516+165G>T) n.47+165G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41348130C= | CA2336423856 | TGFB1 | c.516+165G= (n.516+165G=) n.47+165G= | |
19 | g.41348130C>G | CA2336423855 | TGFB1 | c.516+165G>C (n.516+165G>C) n.47+165G>C | dbSNP |
19 | g.41348130_41348131del | CA995961016 | TGFB1 | c.516+164_516+165del (n.516+164_516+165del) n.47+164_47+165del | gnomAD v3 gnomAD v4 |
19 | g.41348130_41348131delinsCA | CA2573050377 | TGFB1 | c.516+164_516+165delinsTG (n.516+164_516+165delinsTG) n.47+164_47+165delinsTG | |
19 | g.41348130_41348135delinsCAAAAA | CA2336423857 | TGFB1 | c.516+160_516+165delinsTTTTTG (n.516+160_516+165delinsTTTTTG) n.47+160_47+165delinsTTTTTG | |
19 | g.41348131A= | CA2336423859 | TGFB1 | c.516+164T= (n.516+164T=) n.47+164T= | |
19 | g.41348131A>C | CA2336423858 | TGFB1 | c.516+164T>G (n.516+164T>G) n.47+164T>G | dbSNP |
19 | g.41348131A>G | CA882319673 | TGFB1 | c.516+164T>C (n.516+164T>C) n.47+164T>C | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41348145dup | CA633167495 | TGFB1 | c.516+164dup (n.516+164dup) n.47+164dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41348144_41348145dup | CA995961046 | TGFB1 | c.516+163_516+164dup (n.516+163_516+164dup) n.47+163_47+164dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41348143_41348145dup | CA995961048 | TGFB1 | c.516+162_516+164dup (n.516+162_516+164dup) n.47+162_47+164dup | gnomAD v3 gnomAD v4 |
19 | g.41348142_41348145dup | CA995961052 | TGFB1 | c.516+161_516+164dup (n.516+161_516+164dup) n.47+161_47+164dup | gnomAD v3 gnomAD v4 |
19 | g.41348141_41348145dup | CA995961056 | TGFB1 | c.516+160_516+164dup (n.516+160_516+164dup) n.47+160_47+164dup | dbSNP |
19 | g.41348138_41348145dup | CA995961039 | TGFB1 | c.516+157_516+164dup (n.516+157_516+164dup) n.47+157_47+164dup | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41348145del | CA308515132 | TGFB1 | c.516+164del (n.516+164del) n.47+164del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41348144_41348145del | CA633167494 | TGFB1 | c.516+163_516+164del (n.516+163_516+164del) n.47+163_47+164del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41348143_41348145del | CA633167493 | TGFB1 | c.516+162_516+164del (n.516+162_516+164del) n.47+162_47+164del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41348142_41348145del | CA633167492 | TGFB1 | c.516+161_516+164del (n.516+161_516+164del) n.47+161_47+164del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41348141_41348145del | CA995961031 | TGFB1 | c.516+160_516+164del (n.516+160_516+164del) n.47+160_47+164del | dbSNP gnomAD v3 gnomAD v4 |
19 | g.41348140_41348145del | CA995961029 | TGFB1 | c.516+159_516+164del (n.516+159_516+164del) n.47+159_47+164del | gnomAD v3 gnomAD v4 |
19 | g.41348133A>G | CA2511744901 | TGFB1 | c.516+162T>C (n.516+162T>C) n.47+162T>C | |
19 | g.41348136A= | CA2336423860 | TGFB1 | c.516+159T= (n.516+159T=) n.47+159T= | |
19 | g.41348136A>T | CA308515136 | TGFB1 | c.516+159T>A (n.516+159T>A) n.47+159T>A | dbSNP |
19 | g.41348138A= | CA2336423861 | TGFB1 | c.516+157T= (n.516+157T=) n.47+157T= | |
19 | g.41348138A>G | CA882319675 | TGFB1 | c.516+157T>C (n.516+157T>C) n.47+157T>C | dbSNP |