Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.169282857_169282858delinsTC | CA1306365406 | LRP2 | c.1171+15_1171+16delinsGA (n.1171+15_1171+16delinsGA) | |
2 | g.169282859del | CA1306365407 | LRP2 | c.1171+15del (n.1171+15del) | dbSNP |
2 | g.169282860A= | CA1306365408 | LRP2 | c.1171+13T= (n.1171+13T=) | |
2 | g.169282860A>G | CA1955640 | LRP2 | c.1171+13T>C (n.1171+13T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169282861T>C | CA2661824509 | LRP2 | c.1171+12A>G (n.1171+12A>G) | ClinVar gnomAD v4 |
2 | g.169282864T>A | CA2661824510 | LRP2 | c.1171+9A>T (n.1171+9A>T) | gnomAD v4 |
2 | g.169282866T>A | CA537537322 | LRP2 | c.1171+7A>T (n.1171+7A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169282866T= | CA1306365409 | LRP2 | c.1171+7A= (n.1171+7A=) | |
2 | g.169282869T>C | CA537537323 | LRP2 | c.1171+4A>G (n.1171+4A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169282869T>G | CA1039051084 | LRP2 | c.1171+4A>C (n.1171+4A>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169282869T= | CA1306365410 | LRP2 | c.1171+4A= (n.1171+4A=) | |
2 | g.169282871A>C | CA349152161 | LRP2 | c.1171+2T>G (n.1171+2T>G) | |
2 | g.169282871A>G | CA349152162 | LRP2 | c.1171+2T>C (n.1171+2T>C) | |
2 | g.169282871A>T | CA349152163 | LRP2 | c.1171+2T>A (n.1171+2T>A) | |
2 | g.169282872C>A | CA349152165 | LRP2 | c.1171+1G>T (n.1171+1G>T) | |
2 | g.169282872C>G | CA349152166 | LRP2 | c.1171+1G>C (n.1171+1G>C) | |
2 | g.169282872C>T | CA349152164 | LRP2 | c.1171+1G>A (n.1171+1G>A) | gnomAD v4 |
2 | g.169282873A>C | CA349152169 | LRP2 | c.1171T>G (p.Phe391Val) | |
2 | g.169282873A>G | CA349152167 | LRP2 | c.1171T>C (p.Phe391Leu) | |
2 | g.169282873A>T | CA349152168 | LRP2 | c.1171T>A (p.Phe391Ile) | |
2 | g.169282874G>A | CA429920367 | LRP2 | c.1170C>T (p.Ser390=) | |
2 | g.169282874G>C | CA429920366 | LRP2 | c.1170C>G (p.Ser390=) | gnomAD v4 |
2 | g.169282874G>T | CA429920365 | LRP2 | c.1170C>A (p.Ser390=) | |
2 | g.169282875G>A | CA349152170 | LRP2 | c.1169C>T (p.Ser390Phe) | gnomAD v4 |
2 | g.169282875G>C | CA349152171 | LRP2 | c.1169C>G (p.Ser390Cys) | |
2 | g.169282875G>T | CA349152172 | LRP2 | c.1169C>A (p.Ser390Tyr) | |
2 | g.169282876A= | CA1306365411 | LRP2 | c.1168T= (p.Ser390=) | |
2 | g.169282876A>C | CA1955641 | LRP2 | c.1168T>G (p.Ser390Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169282876A>G | CA349152173 | LRP2 | c.1168T>C (p.Ser390Pro) | |
2 | g.169282876A>T | CA349152174 | LRP2 | c.1168T>A (p.Ser390Thr) | |
2 | g.169282877A= | CA1306365412 | LRP2 | c.1167T= (p.Asp389=) | |
2 | g.169282877A>C | CA153541 | LRP2 | c.1167T>G (p.Asp389Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169282877A>G | CA429920368 | LRP2 | c.1167T>C (p.Asp389=) | ClinVar gnomAD v4 |
2 | g.169282877A>T | CA349152175 | LRP2 | c.1167T>A (p.Asp389Glu) | |
2 | g.169282878T>A | CA349152176 | LRP2 | c.1166A>T (p.Asp389Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169282878T>C | CA349152177 | LRP2 | c.1166A>G (p.Asp389Gly) | |
2 | g.169282878T>G | CA349152178 | LRP2 | c.1166A>C (p.Asp389Ala) | |
2 | g.169282878T= | CA1306365413 | LRP2 | c.1166A= (p.Asp389=) | |
2 | g.169282879C>A | CA349152179 | LRP2 | c.1165G>T (p.Asp389Tyr) | |
2 | g.169282879C>G | CA349152181 | LRP2 | c.1165G>C (p.Asp389His) | |
2 | g.169282879C>T | CA349152180 | LRP2 | c.1165G>A (p.Asp389Asn) | |
2 | g.169282880A>C | CA349152182 | LRP2 | c.1164T>G (p.Asn388Lys) | |
2 | g.169282880A>G | CA429920370 | LRP2 | c.1164T>C (p.Asn388=) | ClinVar gnomAD v4 |
2 | g.169282880A>T | CA349152183 | LRP2 | c.1164T>A (p.Asn388Lys) | |
2 | g.169282881T>A | CA349152184 | LRP2 | c.1163A>T (p.Asn388Ile) | |
2 | g.169282881T>C | CA349152185 | LRP2 | c.1163A>G (p.Asn388Ser) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169282881T>G | CA349152186 | LRP2 | c.1163A>C (p.Asn388Thr) | |
2 | g.169282881T= | CA1306365414 | LRP2 | c.1163A= (p.Asn388=) | |
2 | g.169282882T>A | CA349152187 | LRP2 | c.1162A>T (p.Asn388Tyr) | |
2 | g.169282882T>C | CA349152188 | LRP2 | c.1162A>G (p.Asn388Asp) | ClinVar dbSNP gnomAD v2 |