| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.23049368_23049386delinsAGGAAGGTCGCGGGGCCCG | CA2355681539 | THBD | c.119_137delinsCGGGCCCCGCGACCTTCCT (p.Pro40=) | |
| 20 | g.23049371_23049388del | CA9787787 | THBD | c.119_136del (p.Pro40_Phe45del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049378C>A | CA408408325 | THBD | c.127G>T (p.Ala43Ser) | |
| 20 | g.23049378C= | CA2355681546 | THBD | c.127G= (p.Ala43=) | |
| 20 | g.23049378C>G | CA408408324 | THBD | c.127G>C (p.Ala43Pro) | |
| 20 | g.23049378C>T | CA256539 | THBD | c.127G>A (p.Ala43Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049379G>A | CA510161159 | THBD | c.126C>T (p.Pro42=) | gnomAD v4 |
| 20 | g.23049379G>C | CA510161160 | THBD | c.126C>G (p.Pro42=) | ClinVar dbSNP gnomAD v4 |
| 20 | g.23049379G= | CA2355681547 | THBD | c.126C= (p.Pro42=) | |
| 20 | g.23049379G>T | CA510161161 | THBD | c.126C>A (p.Pro42=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23049382del | CA2652141675 | THBD | c.126del (p.Ala43ArgfsTer17) | gnomAD v4 |
| 20 | g.23049380G>A | CA408408326 | THBD | c.125C>T (p.Pro42Leu) | |
| 20 | g.23049380G>C | CA408408327 | THBD | c.125C>G (p.Pro42Arg) | |
| 20 | g.23049380G>T | CA408408328 | THBD | c.125C>A (p.Pro42His) | gnomAD v4 |
| 20 | g.23049381G>A | CA408408329 | THBD | c.124C>T (p.Pro42Ser) | gnomAD v4 |
| 20 | g.23049381G>C | CA408408330 | THBD | c.124C>G (p.Pro42Ala) | |
| 20 | g.23049381G>T | CA408408331 | THBD | c.124C>A (p.Pro42Thr) | gnomAD v4 |
| 20 | g.23049382G>A | CA510161162 | THBD | c.123C>T (p.Gly41=) | gnomAD v4 |
| 20 | g.23049382G>C | CA510161164 | THBD | c.123C>G (p.Gly41=) | |
| 20 | g.23049382G>T | CA510161163 | THBD | c.123C>A (p.Gly41=) | gnomAD v4 |
| 20 | g.23049383C>A | CA408408332 | THBD | c.122G>T (p.Gly41Val) | gnomAD v4 |
| 20 | g.23049383C= | CA2355681548 | THBD | c.122G= (p.Gly41=) | |
| 20 | g.23049383C>G | CA408408333 | THBD | c.122G>C (p.Gly41Ala) | gnomAD v4 |
| 20 | g.23049383C>T | CA9787792 | THBD | c.122G>A (p.Gly41Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23049384C>A | CA408408334 | THBD | c.121G>T (p.Gly41Cys) | gnomAD v4 COSMIC |
| 20 | g.23049384C>G | CA408408335 | THBD | c.121G>C (p.Gly41Arg) | |
| 20 | g.23049384C>T | CA408408336 | THBD | c.121G>A (p.Gly41Ser) | ClinVar gnomAD v4 |
| 20 | g.23049385C>A | CA510161165 | THBD | c.120G>T (p.Pro40=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23049385C= | CA2355681549 | THBD | c.120G= (p.Pro40=) | |
| 20 | g.23049385C>G | CA510161166 | THBD | c.120G>C (p.Pro40=) | gnomAD v4 |
| 20 | g.23049385C>T | CA510161167 | THBD | c.120G>A (p.Pro40=) | dbSNP gnomAD v4 |
| 20 | g.23049386G>A | CA9787793 | THBD | c.119C>T (p.Pro40Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049386G>C | CA408408337 | THBD | c.119C>G (p.Pro40Arg) | |
| 20 | g.23049386G= | CA2355681550 | THBD | c.119C= (p.Pro40=) | |
| 20 | g.23049386G>T | CA408408338 | THBD | c.119C>A (p.Pro40Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23049387G>A | CA408408339 | THBD | c.118C>T (p.Pro40Ser) | gnomAD v4 |
| 20 | g.23049387G>C | CA408408340 | THBD | c.118C>G (p.Pro40Ala) | ClinVar |
| 20 | g.23049387G>T | CA408408341 | THBD | c.118C>A (p.Pro40Thr) | gnomAD v4 |
| 20 | g.23049388G>A | CA313552578 | THBD | c.117C>T (p.Tyr39=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049388G>C | CA408408342 | THBD | c.117C>G (p.Tyr39Ter) | |
| 20 | g.23049388G= | CA2355681551 | THBD | c.117C= (p.Tyr39=) | |
| 20 | g.23049388G>T | CA408408343 | THBD | c.117C>A (p.Tyr39Ter) | gnomAD v4 |
| 20 | g.23049389T>A | CA9787794 | THBD | c.116A>T (p.Tyr39Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23049389T>C | CA408408345 | THBD | c.116A>G (p.Tyr39Cys) | |
| 20 | g.23049389T>G | CA408408344 | THBD | c.116A>C (p.Tyr39Ser) | |
| 20 | g.23049389T= | CA2355681552 | THBD | c.116A= (p.Tyr39=) | |
| 20 | g.23049390A>C | CA408408346 | THBD | c.115T>G (p.Tyr39Asp) | |
| 20 | g.23049390A>G | CA408408347 | THBD | c.115T>C (p.Tyr39His) | gnomAD v4 |
| 20 | g.23049390A>T | CA408408348 | THBD | c.115T>A (p.Tyr39Asn) | |
| 20 | g.23049391G>A | CA510161170 | THBD | c.114C>T (p.Leu38=) |