Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
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 |