Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
Y | g.6872590_6872595del | CA2766273060 | AMELY | c.16_21del (p.Leu6_Phe7del) | |
Y | g.6872595del | CA1138822826 | AMELY | c.17del (p.Leu6CysfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
Y | g.6872593A>C | CA414969756 | AMELY | c.16T>G (p.Leu6Val) | |
Y | g.6872593A>G | CA519498542 | AMELY | c.16T>C (p.Leu6=) | |
Y | g.6872593A>T | CA414969759 | AMELY | c.16T>A (p.Leu6Met) | |
Y | g.6872594A= | CA2469903476 | AMELY | c.15T= (p.Ile5=) | |
Y | g.6872594A>C | CA414969763 | AMELY | c.15T>G (p.Ile5Met) | |
Y | g.6872594A>G | CA519498546 | AMELY | c.15T>C (p.Ile5=) | |
Y | g.6872594A>T | CA519498548 | AMELY | c.15T>A (p.Ile5=) | dbSNP |
Y | g.6872595A>C | CA414969769 | AMELY | c.14T>G (p.Ile5Ser) | |
Y | g.6872595A>G | CA414969766 | AMELY | c.14T>C (p.Ile5Thr) | |
Y | g.6872595A>T | CA414969773 | AMELY | c.14T>A (p.Ile5Asn) | |
Y | g.6872596T>A | CA414969777 | AMELY | c.13A>T (p.Ile5Phe) | |
Y | g.6872596T>C | CA414969781 | AMELY | c.13A>G (p.Ile5Val) | |
Y | g.6872596T>G | CA414969783 | AMELY | c.13A>C (p.Ile5Leu) | |
Y | g.6872597C>A | CA414969787 | AMELY | c.12G>T (p.Trp4Cys) | |
Y | g.6872597C>G | CA414969789 | AMELY | c.12G>C (p.Trp4Cys) | |
Y | g.6872597C>T | CA414969793 | AMELY | c.12G>A (p.Trp4Ter) | |
Y | g.6872598C>A | CA414969796 | AMELY | c.11G>T (p.Trp4Leu) | |
Y | g.6872598C>G | CA414969799 | AMELY | c.11G>C (p.Trp4Ser) | |
Y | g.6872598C>T | CA414969801 | AMELY | c.11G>A (p.Trp4Ter) | |
Y | g.6872599A>C | CA414969803 | AMELY | c.10T>G (p.Trp4Gly) | |
Y | g.6872599A>G | CA414969804 | AMELY | c.10T>C (p.Trp4Arg) | |
Y | g.6872599A>T | CA414969807 | AMELY | c.10T>A (p.Trp4Arg) | |
Y | g.6872600G>A | CA519498563 | AMELY | c.9C>T (p.Thr3=) | |
Y | g.6872600G>C | CA519498565 | AMELY | c.9C>G (p.Thr3=) | |
Y | g.6872600G>T | CA519498566 | AMELY | c.9C>A (p.Thr3=) | |
Y | g.6872601G>A | CA414969819 | AMELY | c.8C>T (p.Thr3Ile) | |
Y | g.6872601G>C | CA414969824 | AMELY | c.8C>G (p.Thr3Ser) | |
Y | g.6872601G>T | CA414969821 | AMELY | c.8C>A (p.Thr3Asn) | |
Y | g.6872602T>A | CA414969826 | AMELY | c.7A>T (p.Thr3Ser) | |
Y | g.6872602T>C | CA414969829 | AMELY | c.7A>G (p.Thr3Ala) | |
Y | g.6872602T>G | CA414969831 | AMELY | c.7A>C (p.Thr3Pro) | |
Y | g.6872603C>A | CA519498574 | AMELY | c.6G>T (p.Gly2=) | |
Y | g.6872603C>G | CA519498576 | AMELY | c.6G>C (p.Gly2=) | |
Y | g.6872603C>T | CA519498575 | AMELY | c.6G>A (p.Gly2=) | |
Y | g.6872604C>A | CA414969833 | AMELY | c.5G>T (p.Gly2Val) | |
Y | g.6872604C>G | CA414969835 | AMELY | c.5G>C (p.Gly2Ala) | |
Y | g.6872604C>T | CA414969838 | AMELY | c.5G>A (p.Gly2Glu) | |
Y | g.6872605C>A | CA414969843 | AMELY | c.4G>T (p.Gly2Trp) | |
Y | g.6872605C>G | CA414969845 | AMELY | c.4G>C (p.Gly2Arg) | |
Y | g.6872605C>T | CA414969848 | AMELY | c.4G>A (p.Gly2Arg) | |
Y | g.6872606C>A | CA414969860 | AMELY | c.3G>T (p.Met1Ile) | |
Y | g.6872606C>G | CA414969857 | AMELY | c.3G>C (p.Met1Ile) | |
Y | g.6872606C>T | CA414969850 | AMELY | c.3G>A (p.Met1Ile) | |
Y | g.6872607A>C | CA414969862 | AMELY | c.2T>G (p.Met1Arg) | |
Y | g.6872607A>G | CA414969863 | AMELY | c.2T>C (p.Met1Thr) | |
Y | g.6872607A>T | CA414969865 | AMELY | c.2T>A (p.Met1Lys) | |
Y | g.6872608T>A | CA414969867 | AMELY | c.1A>T (p.Met1Leu) | |
Y | g.6872608T>C | CA414969869 | AMELY | c.1A>G (p.Met1Val) |