| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.23047987A= | CA2355680838 | THBD | c.1518T= (p.Thr506=) | |
| 20 | g.23047987A>C | CA510160212 | THBD | c.1518T>G (p.Thr506=) | |
| 20 | g.23047987A>G | CA313550446 | THBD | c.1518T>C (p.Thr506=) | dbSNP gnomAD v4 |
| 20 | g.23047987A>T | CA510160213 | THBD | c.1518T>A (p.Thr506=) | |
| 20 | g.23047988G>A | CA9787539 | THBD | c.1517C>T (p.Thr506Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.23047988G>C | CA408405364 | THBD | c.1517C>G (p.Thr506Ser) | gnomAD v4 |
| 20 | g.23047988G= | CA2355680839 | THBD | c.1517C= (p.Thr506=) | |
| 20 | g.23047988G>T | CA9787538 | THBD | c.1517C>A (p.Thr506Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047989T>A | CA408405367 | THBD | c.1516A>T (p.Thr506Ser) | |
| 20 | g.23047989T>C | CA408405366 | THBD | c.1516A>G (p.Thr506Ala) | |
| 20 | g.23047989T>G | CA408405365 | THBD | c.1516A>C (p.Thr506Pro) | |
| 20 | g.23047990C>A | CA408405368 | THBD | c.1515G>T (p.Leu505Phe) | gnomAD v4 |
| 20 | g.23047990C>G | CA408405369 | THBD | c.1515G>C (p.Leu505Phe) | |
| 20 | g.23047990C>T | CA510160215 | THBD | c.1515G>A (p.Leu505=) | gnomAD v4 |
| 20 | g.23047991A= | CA2355680840 | THBD | c.1514T= (p.Leu505=) | |
| 20 | g.23047991A>C | CA408405370 | THBD | c.1514T>G (p.Leu505Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23047991A>G | CA408405371 | THBD | c.1514T>C (p.Leu505Ser) | |
| 20 | g.23047991A>T | CA408405372 | THBD | c.1514T>A (p.Leu505Ter) | |
| 20 | g.23047992A>C | CA408405373 | THBD | c.1513T>G (p.Leu505Val) | |
| 20 | g.23047992A>G | CA510160217 | THBD | c.1513T>C (p.Leu505=) | |
| 20 | g.23047992A>T | CA408405374 | THBD | c.1513T>A (p.Leu505Met) | |
| 20 | g.23047993G>A | CA510160222 | THBD | c.1512C>T (p.Thr504=) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.23047993G>C | CA510160221 | THBD | c.1512C>G (p.Thr504=) | |
| 20 | g.23047993G= | CA2355680841 | THBD | c.1512C= (p.Thr504=) | |
| 20 | g.23047993G>T | CA510160220 | THBD | c.1512C>A (p.Thr504=) | gnomAD v4 |
| 20 | g.23047994G>A | CA408405375 | THBD | c.1511C>T (p.Thr504Ile) | |
| 20 | g.23047994G>C | CA408405376 | THBD | c.1511C>G (p.Thr504Ser) | |
| 20 | g.23047994G= | CA2355680842 | THBD | c.1511C= (p.Thr504=) | |
| 20 | g.23047994G>T | CA9787540 | THBD | c.1511C>A (p.Thr504Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.23047995T>A | CA408405377 | THBD | c.1510A>T (p.Thr504Ser) | ClinVar dbSNP |
| 20 | g.23047995T>C | CA408405378 | THBD | c.1510A>G (p.Thr504Ala) | dbSNP |
| 20 | g.23047995T>G | CA408405379 | THBD | c.1510A>C (p.Thr504Pro) | |
| 20 | g.23047995T= | CA2355680843 | THBD | c.1510A= (p.Thr504=) | |
| 20 | g.23047996G>A | CA510160223 | THBD | c.1509C>T (p.Ser503=) | |
| 20 | g.23047996G>C | CA510160226 | THBD | c.1509C>G (p.Ser503=) | |
| 20 | g.23047996G>T | CA510160225 | THBD | c.1509C>A (p.Ser503=) | gnomAD v4 |
| 20 | g.23047997G>A | CA408405381 | THBD | c.1508C>T (p.Ser503Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.23047997G>C | CA408405382 | THBD | c.1508C>G (p.Ser503Cys) | |
| 20 | g.23047997G= | CA2355680844 | THBD | c.1508C= (p.Ser503=) | |
| 20 | g.23047997G>T | CA408405380 | THBD | c.1508C>A (p.Ser503Tyr) | gnomAD v4 |
| 20 | g.23047998A>C | CA408405385 | THBD | c.1507T>G (p.Ser503Ala) | |
| 20 | g.23047998A>G | CA408405383 | THBD | c.1507T>C (p.Ser503Pro) | |
| 20 | g.23047998A>T | CA408405384 | THBD | c.1507T>A (p.Ser503Thr) | |
| 20 | g.23047999G>A | CA510160227 | THBD | c.1506C>T (p.Gly502=) | dbSNP |
| 20 | g.23047999G>C | CA510160228 | THBD | c.1506C>G (p.Gly502=) | |
| 20 | g.23047999G= | CA2355680845 | THBD | c.1506C= (p.Gly502=) | |
| 20 | g.23047999G>T | CA510160230 | THBD | c.1506C>A (p.Gly502=) | dbSNP |
| 20 | g.23048000C>A | CA408405386 | THBD | c.1505G>T (p.Gly502Val) | |
| 20 | g.23048000C>G | CA408405387 | THBD | c.1505G>C (p.Gly502Ala) | |
| 20 | g.23048000C>T | CA408405388 | THBD | c.1505G>A (p.Gly502Asp) | gnomAD v4 |