Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.87811342T>C | CA2671363042 | IBSP | c.406-20T>C (n.406-20T>C) | gnomAD v4 |
4 | g.87811343T>C | CA3002378 | IBSP | c.406-19T>C (n.406-19T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87811343T= | CA1474474546 | IBSP | c.406-19T= (n.406-19T=) | |
4 | g.87811345_87811352dup | CA2671363043 | IBSP | c.406-17_406-10dup (n.406-17_406-10dup) | gnomAD v4 |
4 | g.87811344T>C | CA2671363044 | IBSP | c.406-18T>C (n.406-18T>C) | gnomAD v4 |
4 | g.87811345C>A | CA2578140097 | IBSP | c.406-17C>A (n.406-17C>A) | gnomAD v4 |
4 | g.87811345C>T | CA2671363045 | IBSP | c.406-17C>T (n.406-17C>T) | gnomAD v4 |
4 | g.87811346A= | CA1474474547 | IBSP | c.406-16A= (n.406-16A=) | |
4 | g.87811346A>G | CA799623941 | IBSP | c.406-16A>G (n.406-16A>G) | dbSNP gnomAD v4 |
4 | g.87811349C>A | CA2671363046 | IBSP | c.406-13C>A (n.406-13C>A) | gnomAD v4 |
4 | g.87811349C= | CA1474474548 | IBSP | c.406-13C= (n.406-13C=) | |
4 | g.87811349C>G | CA2578140098 | IBSP | c.406-13C>G (n.406-13C>G) | |
4 | g.87811349C>T | CA100855534 | IBSP | c.406-13C>T (n.406-13C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87811349_87811350insTTCAGGATAAACCCCTTTGTCATGG | CA2506167061 | IBSP | c.406-13_406-12insTTCAGGATAAACCCCTTTGTCATGG (n.406-13_406-12insTTCAGGATAAACCCCTTTGTCATGG) | |
4 | g.87811350G>A | CA1474474550 | IBSP | c.406-12G>A (n.406-12G>A) | dbSNP gnomAD v4 |
4 | g.87811350G>C | CA799623952 | IBSP | c.406-12G>C (n.406-12G>C) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.87811350G= | CA1474474549 | IBSP | c.406-12G= (n.406-12G=) | |
4 | g.87811350G>T | CA2578140099 | IBSP | c.406-12G>T (n.406-12G>T) | |
4 | g.87811354C>A | CA2671363047 | IBSP | c.406-8C>A (n.406-8C>A) | gnomAD v4 |
4 | g.87811354C= | CA1474474551 | IBSP | c.406-8C= (n.406-8C=) | |
4 | g.87811354C>G | CA1065112399 | IBSP | c.406-8C>G (n.406-8C>G) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.87811355C= | CA1474474552 | IBSP | c.406-7C= (n.406-7C=) | |
4 | g.87811355C>G | CA553085737 | IBSP | c.406-7C>G (n.406-7C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87811356T>C | CA2671363048 | IBSP | c.406-6T>C (n.406-6T>C) | gnomAD v4 |
4 | g.87811358A= | CA1474474553 | IBSP | c.406-4A= (n.406-4A=) | |
4 | g.87811358A>G | CA3002379 | IBSP | c.406-4A>G (n.406-4A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.87811359C>A | CA2671363049 | IBSP | c.406-3C>A (n.406-3C>A) | gnomAD v4 |
4 | g.87811360A>C | CA357620322 | IBSP | c.406-2A>C (n.406-2A>C) | |
4 | g.87811360A>G | CA357620323 | IBSP | c.406-2A>G (n.406-2A>G) | gnomAD v4 |
4 | g.87811360A>T | CA357620325 | IBSP | c.406-2A>T (n.406-2A>T) | |
4 | g.87811361G>A | CA357620327 | IBSP | c.406-1G>A (n.406-1G>A) | |
4 | g.87811361G>C | CA357620329 | IBSP | c.406-1G>C (n.406-1G>C) | |
4 | g.87811361G>T | CA357620330 | IBSP | c.406-1G>T (n.406-1G>T) | |
4 | g.87811362G>A | CA357620331 | IBSP | c.406G>A (p.Ala136Thr) | |
4 | g.87811362G>C | CA357620332 | IBSP | c.406G>C (p.Ala136Pro) | |
4 | g.87811362G>T | CA357620334 | IBSP | c.406G>T (p.Ala136Ser) | gnomAD v4 |
4 | g.87811363C>A | CA357620336 | IBSP | c.407C>A (p.Ala136Asp) | gnomAD v4 |
4 | g.87811363C>G | CA357620337 | IBSP | c.407C>G (p.Ala136Gly) | gnomAD v4 |
4 | g.87811363C>T | CA357620338 | IBSP | c.407C>T (p.Ala136Val) | |
4 | g.87811364T>A | CA440295363 | IBSP | c.408T>A (p.Ala136=) | |
4 | g.87811364T>C | CA440295364 | IBSP | c.408T>C (p.Ala136=) | |
4 | g.87811364T>G | CA440295365 | IBSP | c.408T>G (p.Ala136=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.87811364T= | CA1474474554 | IBSP | c.408T= (p.Ala136=) | |
4 | g.87811365G>A | CA357620344 | IBSP | c.409G>A (p.Gly137Arg) | dbSNP gnomAD v4 |
4 | g.87811365G>C | CA357620342 | IBSP | c.409G>C (p.Gly137Arg) | |
4 | g.87811365G= | CA1474474555 | IBSP | c.409G= (p.Gly137=) | |
4 | g.87811365G>T | CA357620341 | IBSP | c.409G>T (p.Gly137Trp) | |
4 | g.87811367_87811368del | CA2706380050 | IBSP | c.411_412del (p.Asp138TyrfsTer4) | dbSNP |
4 | g.87811366G>A | CA3002380 | IBSP | c.410G>A (p.Gly137Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.87811366G>C | CA357620346 | IBSP | c.410G>C (p.Gly137Ala) | dbSNP gnomAD v4 |