| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.6868017T>A | CA645293588 | AMELY | c.573+20A>T (n.573+20A>T) c.615+20A>T (n.615+20A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.6868017T= | CA2469903195 | AMELY | c.573+20A= (n.573+20A=) c.615+20A= (n.615+20A=) | |
| Y | g.6868020C>A | CA2469903197 | AMELY | c.573+17G>T (n.573+17G>T) c.615+17G>T (n.615+17G>T) | dbSNP |
| Y | g.6868020C= | CA2469903196 | AMELY | c.573+17G= (n.573+17G=) c.615+17G= (n.615+17G=) | |
| Y | g.6868021T>C | CA2538576172 | AMELY | c.573+16A>G (n.573+16A>G) c.615+16A>G (n.615+16A>G) | |
| Y | g.6868023C>T | CA2579746827 | AMELY | c.573+14G>A (n.573+14G>A) c.615+14G>A (n.615+14G>A) | |
| Y | g.6868024A>C | CA337550920 | AMELY | c.573+13T>G (n.573+13T>G) c.615+13T>G (n.615+13T>G) | |
| Y | g.6868028T>G | CA2579746828 | AMELY | c.573+9A>C (n.573+9A>C) c.615+9A>C (n.615+9A>C) | |
| Y | g.6868031A>G | CA2504134571 | AMELY | c.573+6T>C (n.573+6T>C) c.615+6T>C (n.615+6T>C) | |
| Y | g.6868032C>T | CA2579746829 | AMELY | c.573+5G>A (n.573+5G>A) c.615+5G>A (n.615+5G>A) | |
| Y | g.6868035A>C | CA414966158 | AMELY | c.573+2T>G (n.573+2T>G) c.615+2T>G (n.615+2T>G) | |
| Y | g.6868035A>G | CA414966160 | AMELY | c.573+2T>C (n.573+2T>C) c.615+2T>C (n.615+2T>C) | |
| Y | g.6868035A>T | CA414966161 | AMELY | c.573+2T>A (n.573+2T>A) c.615+2T>A (n.615+2T>A) | |
| Y | g.6868036C>A | CA414966163 | AMELY | c.573+1G>T (n.573+1G>T) c.615+1G>T (n.615+1G>T) | |
| Y | g.6868036C>G | CA414966167 | AMELY | c.573+1G>C (n.573+1G>C) c.615+1G>C (n.615+1G>C) | |
| Y | g.6868036C>T | CA414966165 | AMELY | c.573+1G>A (n.573+1G>A) c.615+1G>A (n.615+1G>A) | |
| Y | g.6868037C>A | CA519495993 | AMELY | c.573G>T (p.Val191=) c.615G>T (p.Val205=) | |
| Y | g.6868037C>G | CA519495995 | AMELY | c.573G>C (p.Val191=) c.615G>C (p.Val205=) | |
| Y | g.6868037C>T | CA519495996 | AMELY | c.573G>A (p.Val191=) c.615G>A (p.Val205=) | |
| Y | g.6868038A>C | CA414966169 | AMELY | c.572T>G (p.Val191Gly) c.614T>G (p.Val205Gly) | |
| Y | g.6868038A>G | CA414966173 | AMELY | c.572T>C (p.Val191Ala) c.614T>C (p.Val205Ala) | |
| Y | g.6868038A>T | CA414966171 | AMELY | c.572T>A (p.Val191Glu) c.614T>A (p.Val205Glu) | |
| Y | g.6868039C>A | CA414966176 | AMELY | c.571G>T (p.Val191Leu) c.613G>T (p.Val205Leu) | COSMIC |
| Y | g.6868039C>G | CA414966179 | AMELY | c.571G>C (p.Val191Leu) c.613G>C (p.Val205Leu) | |
| Y | g.6868039C>T | CA414966178 | AMELY | c.571G>A (p.Val191Met) c.613G>A (p.Val205Met) | |
| Y | g.6868040T>A | CA414966182 | AMELY | c.570A>T (p.Glu190Asp) c.612A>T (p.Glu204Asp) | |
| Y | g.6868040T>C | CA519496006 | AMELY | c.570A>G (p.Glu190=) c.612A>G (p.Glu204=) | |
| Y | g.6868040T>G | CA414966184 | AMELY | c.570A>C (p.Glu190Asp) c.612A>C (p.Glu204Asp) | |
| Y | g.6868041T>A | CA414966186 | AMELY | c.569A>T (p.Glu190Val) c.611A>T (p.Glu204Val) | |
| Y | g.6868041T>C | CA414966189 | AMELY | c.569A>G (p.Glu190Gly) c.611A>G (p.Glu204Gly) | |
| Y | g.6868041T>G | CA414966188 | AMELY | c.569A>C (p.Glu190Ala) c.611A>C (p.Glu204Ala) | |
| Y | g.6868042C>A | CA414966192 | AMELY | c.568G>T (p.Glu190Ter) c.610G>T (p.Glu204Ter) | |
| Y | g.6868042C>G | CA414966196 | AMELY | c.568G>C (p.Glu190Gln) c.610G>C (p.Glu204Gln) | |
| Y | g.6868042C>T | CA414966194 | AMELY | c.568G>A (p.Glu190Lys) c.610G>A (p.Glu204Lys) | |
| Y | g.6868043C>A | CA414966198 | AMELY | c.567G>T (p.Glu189Asp) c.609G>T (p.Glu203Asp) | |
| Y | g.6868043C>G | CA414966200 | AMELY | c.567G>C (p.Glu189Asp) c.609G>C (p.Glu203Asp) | |
| Y | g.6868043C>T | CA519496012 | AMELY | c.567G>A (p.Glu189=) c.609G>A (p.Glu203=) | |
| Y | g.6868044T>A | CA414966202 | AMELY | c.566A>T (p.Glu189Val) c.608A>T (p.Glu203Val) | |
| Y | g.6868044T>C | CA414966204 | AMELY | c.566A>G (p.Glu189Gly) c.608A>G (p.Glu203Gly) | |
| Y | g.6868044T>G | CA414966206 | AMELY | c.566A>C (p.Glu189Ala) c.608A>C (p.Glu203Ala) | |
| Y | g.6868045C>A | CA414966208 | AMELY | c.565G>T (p.Glu189Ter) c.607G>T (p.Glu203Ter) | |
| Y | g.6868045C>G | CA414966210 | AMELY | c.565G>C (p.Glu189Gln) c.607G>C (p.Glu203Gln) | |
| Y | g.6868045C>T | CA414966212 | AMELY | c.565G>A (p.Glu189Lys) c.607G>A (p.Glu203Lys) | |
| Y | g.6868046C>A | CA414966214 | AMELY | c.564G>T (p.Gln188His) c.606G>T (p.Gln202His) | |
| Y | g.6868046C= | CA2469903198 | AMELY | c.564G= (p.Gln188=) c.606G= (p.Gln202=) | |
| Y | g.6868046C>G | CA414966215 | AMELY | c.564G>C (p.Gln188His) c.606G>C (p.Gln202His) | dbSNP gnomAD v2 |
| Y | g.6868046C>T | CA519496017 | AMELY | c.564G>A (p.Gln188=) c.606G>A (p.Gln202=) | |
| Y | g.6868047T>A | CA414966218 | AMELY | c.563A>T (p.Gln188Leu) c.605A>T (p.Gln202Leu) | |
| Y | g.6868047T>C | CA414966222 | AMELY | c.563A>G (p.Gln188Arg) c.605A>G (p.Gln202Arg) | |
| Y | g.6868047T>G | CA414966220 | AMELY | c.563A>C (p.Gln188Pro) c.605A>C (p.Gln202Pro) |