| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.153819640_153819643del | CA16042318 | GATAD2B | c.9_12del (p.Glu3AspfsTer7) c.432_435del (p.Glu144AspfsTer7) c.432_435del (p.Glu144AspfsTer?) | ClinVar dbSNP |
| 1 | g.153819640T>A | CA342535041 | GATAD2B | c.8A>T (p.Glu3Val) c.431A>T (p.Glu144Val) | |
| 1 | g.153819640T>C | CA342535044 | GATAD2B | c.8A>G (p.Glu3Gly) c.431A>G (p.Glu144Gly) | |
| 1 | g.153819640T>G | CA342535047 | GATAD2B | c.8A>C (p.Glu3Ala) c.431A>C (p.Glu144Ala) | |
| 1 | g.153819641C>A | CA342535054 | GATAD2B | c.7G>T (p.Glu3Ter) c.430G>T (p.Glu144Ter) | COSMIC |
| 1 | g.153819641C>G | CA342535059 | GATAD2B | c.7G>C (p.Glu3Gln) c.430G>C (p.Glu144Gln) | COSMIC |
| 1 | g.153819641C>T | CA342535063 | GATAD2B | c.7G>A (p.Glu3Lys) c.430G>A (p.Glu144Lys) | |
| 1 | g.153819642T>A | CA342535072 | GATAD2B | c.6A>T (p.Glu2Asp) c.429A>T (p.Glu143Asp) | |
| 1 | g.153819642T>C | CA420836186 | GATAD2B | c.6A>G (p.Glu2=) c.429A>G (p.Glu143=) | |
| 1 | g.153819642T>G | CA342535069 | GATAD2B | c.6A>C (p.Glu2Asp) c.429A>C (p.Glu143Asp) | |
| 1 | g.153819643T>A | CA342535076 | GATAD2B | c.5A>T (p.Glu2Val) c.428A>T (p.Glu143Val) | |
| 1 | g.153819643T>C | CA342535091 | GATAD2B | c.5A>G (p.Glu2Gly) c.428A>G (p.Glu143Gly) | |
| 1 | g.153819643T>G | CA342535094 | GATAD2B | c.5A>C (p.Glu2Ala) c.428A>C (p.Glu143Ala) | |
| 1 | g.153819644C>A | CA342535112 | GATAD2B | c.4G>T (p.Glu2Ter) c.427G>T (p.Glu143Ter) | |
| 1 | g.153819644C>G | CA342535124 | GATAD2B | c.4G>C (p.Glu2Gln) c.427G>C (p.Glu143Gln) | |
| 1 | g.153819644C>T | CA342535127 | GATAD2B | c.4G>A (p.Glu2Lys) c.427G>A (p.Glu143Lys) | |
| 1 | g.153819645C>A | CA342535140 | GATAD2B | c.3G>T (p.Met1Ile) c.426G>T (p.Met142Ile) | |
| 1 | g.153819645C>G | CA342535133 | GATAD2B | c.3G>C (p.Met1Ile) c.426G>C (p.Met142Ile) | |
| 1 | g.153819645C>T | CA342535137 | GATAD2B | c.3G>A (p.Met1Ile) c.426G>A (p.Met142Ile) | ClinVar |
| 1 | g.153819646A>C | CA342535145 | GATAD2B | c.2T>G (p.Met1Arg) c.425T>G (p.Met142Arg) | ClinVar dbSNP |
| 1 | g.153819646A>G | CA342535153 | GATAD2B | c.2T>C (p.Met1Thr) c.425T>C (p.Met142Thr) | |
| 1 | g.153819646A>T | CA342535157 | GATAD2B | c.2T>A (p.Met1Lys) c.425T>A (p.Met142Lys) | |
| 1 | g.153819647T>A | CA342535163 | GATAD2B | c.1A>T (p.Met1Leu) c.424A>T (p.Met142Leu) | COSMIC |
| 1 | g.153819647T>C | CA342535165 | GATAD2B | c.1A>G (p.Met1Val) c.424A>G (p.Met142Val) | |
| 1 | g.153819647T>G | CA342535169 | GATAD2B | c.1A>C (p.Met1Leu) c.424A>C (p.Met142Leu) | |
| 1 | g.153819648T>A | CA342535170 | GATAD2B | c.-1A>T (n.-1A>T) c.423A>T (p.Arg141Ser) | |
| 1 | g.153819648T>C | CA420836193 | GATAD2B | c.-1A>G (n.-1A>G) c.423A>G (p.Arg141=) | |
| 1 | g.153819648T>G | CA342535171 | GATAD2B | c.-1A>C (n.-1A>C) c.423A>C (p.Arg141Ser) | |
| 1 | g.153819649C>A | CA342535173 | GATAD2B | c.-2G>T (n.-2G>T) c.422G>T (p.Arg141Ile) | |
| 1 | g.153819649C>G | CA342535180 | GATAD2B | c.-2G>C (n.-2G>C) c.422G>C (p.Arg141Thr) | |
| 1 | g.153819649C>T | CA342535182 | GATAD2B | c.-2G>A (n.-2G>A) c.422G>A (p.Arg141Lys) | |
| 1 | g.153819650T>A | CA342535187 | GATAD2B | c.-3A>T (n.-3A>T) c.421A>T (p.Arg141Ter) | |
| 1 | g.153819650T>C | CA342535192 | GATAD2B | c.-3A>G (n.-3A>G) c.421A>G (p.Arg141Gly) | dbSNP |
| 1 | g.153819650T>G | CA420836197 | GATAD2B | c.-3A>C (n.-3A>C) c.421A>C (p.Arg141=) | |
| 1 | g.153819650T= | CA2480603208 | GATAD2B | c.-3A= (n.-3A=) c.421A= (p.Arg141=) | |
| 1 | g.153819651G>A | CA420836198 | GATAD2B | c.-4C>T (n.-4C>T) c.420C>T (p.Ser140=) | |
| 1 | g.153819651G>C | CA420836199 | GATAD2B | c.-4C>G (n.-4C>G) c.420C>G (p.Ser140=) | gnomAD v4 |
| 1 | g.153819651G>T | CA420836200 | GATAD2B | c.-4C>A (n.-4C>A) c.420C>A (p.Ser140=) | |
| 1 | g.153819652del | CA2740090371 | GATAD2B | c.-4del (n.-4del) c.420del (p.Arg141GlufsTer11) c.420del (p.Arg141GlufsTer?) | ClinVar |
| 1 | g.153819652G>A | CA342535206 | GATAD2B | c.-5C>T (n.-5C>T) c.419C>T (p.Ser140Phe) | |
| 1 | g.153819652G>C | CA342535198 | GATAD2B | c.-5C>G (n.-5C>G) c.419C>G (p.Ser140Cys) | |
| 1 | g.153819652G>T | CA342535203 | GATAD2B | c.-5C>A (n.-5C>A) c.419C>A (p.Ser140Tyr) | |
| 1 | g.153819653A>C | CA342535208 | GATAD2B | c.-6T>G (n.-6T>G) c.418T>G (p.Ser140Ala) | |
| 1 | g.153819653A>G | CA342535216 | GATAD2B | c.-6T>C (n.-6T>C) c.418T>C (p.Ser140Pro) | |
| 1 | g.153819653A>T | CA342535212 | GATAD2B | c.-6T>A (n.-6T>A) c.418T>A (p.Ser140Thr) | |
| 1 | g.153819654A>C | CA342535217 | GATAD2B | c.-7T>G (n.-7T>G) c.417T>G (p.Ser139Arg) | |
| 1 | g.153819654A>G | CA420836203 | GATAD2B | c.-7T>C (n.-7T>C) c.417T>C (p.Ser139=) | gnomAD v4 |
| 1 | g.153819654A>T | CA342535218 | GATAD2B | c.-7T>A (n.-7T>A) c.417T>A (p.Ser139Arg) | |
| 1 | g.153819655C>A | CA342535220 | GATAD2B | c.-8G>T (n.-8G>T) c.416G>T (p.Ser139Ile) | |
| 1 | g.153819655C>G | CA342535224 | GATAD2B | c.-8G>C (n.-8G>C) c.416G>C (p.Ser139Thr) |