Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
20 | g.23048001C>A | CA408405389 | THBD | c.1504G>T (p.Gly502Cys) | gnomAD v4 |
20 | g.23048001C= | CA2355680846 | THBD | c.1504G= (p.Gly502=) | |
20 | g.23048001C>G | CA9787541 | THBD | c.1504G>C (p.Gly502Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048001C>T | CA9787542 | THBD | c.1504G>A (p.Gly502Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.23048002G>A | CA9787543 | THBD | c.1503C>T (p.Pro501=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048002G>C | CA9787544 | THBD | c.1503C>G (p.Pro501=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.23048002G= | CA2355680847 | THBD | c.1503C= (p.Pro501=) | |
20 | g.23048002G>T | CA510160231 | THBD | c.1503C>A (p.Pro501=) | |
20 | g.23048003G>A | CA9787545 | THBD | c.1502C>T (p.Pro501Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048003G>C | CA408405390 | THBD | c.1502C>G (p.Pro501Arg) | |
20 | g.23048003G= | CA2355680848 | THBD | c.1502C= (p.Pro501=) | |
20 | g.23048003G>T | CA408405391 | THBD | c.1502C>A (p.Pro501His) | |
20 | g.23048004G>A | CA408405394 | THBD | c.1501C>T (p.Pro501Ser) | dbSNP |
20 | g.23048004G>C | CA408405392 | THBD | c.1501C>G (p.Pro501Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048004G= | CA2355680849 | THBD | c.1501C= (p.Pro501=) | |
20 | g.23048004G>T | CA408405393 | THBD | c.1501C>A (p.Pro501Thr) | |
20 | g.23048005C>A | CA313550519 | THBD | c.1500G>T (p.Thr500=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048005C= | CA2355680850 | THBD | c.1500G= (p.Thr500=) | |
20 | g.23048005C>G | CA510160232 | THBD | c.1500G>C (p.Thr500=) | |
20 | g.23048005C>T | CA510160233 | THBD | c.1500G>A (p.Thr500=) | dbSNP |
20 | g.23048006G>A | CA9787546 | THBD | c.1499C>T (p.Thr500Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048006G>C | CA408405395 | THBD | c.1499C>G (p.Thr500Arg) | |
20 | g.23048006G= | CA2355680851 | THBD | c.1499C= (p.Thr500=) | |
20 | g.23048006G>T | CA408405396 | THBD | c.1499C>A (p.Thr500Lys) | dbSNP |
20 | g.23048007T>A | CA408405397 | THBD | c.1498A>T (p.Thr500Ser) | |
20 | g.23048007T>C | CA408405398 | THBD | c.1498A>G (p.Thr500Ala) | COSMIC |
20 | g.23048007T>G | CA408405399 | THBD | c.1498A>C (p.Thr500Pro) | |
20 | g.23048008C>A | CA510160234 | THBD | c.1497G>T (p.Pro499=) | dbSNP gnomAD v4 |
20 | g.23048008C= | CA2355680852 | THBD | c.1497G= (p.Pro499=) | |
20 | g.23048008C>G | CA510160235 | THBD | c.1497G>C (p.Pro499=) | gnomAD v4 |
20 | g.23048008C>T | CA510160236 | THBD | c.1497G>A (p.Pro499=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.23048009G>A | CA408405400 | THBD | c.1496C>T (p.Pro499Leu) | ClinVar dbSNP |
20 | g.23048009G>C | CA9787547 | THBD | c.1496C>G (p.Pro499Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.23048009G= | CA2355680853 | THBD | c.1496C= (p.Pro499=) | |
20 | g.23048009G>T | CA408405401 | THBD | c.1496C>A (p.Pro499Gln) | |
20 | g.23048010G>A | CA408405402 | THBD | c.1495C>T (p.Pro499Ser) | gnomAD v4 |