Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.70027865_70027901delinsGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCC | CA2435979542 | EDA | c.535_571delinsGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCC (p.Ala179=) c.139_175delinsGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCC (p.Ala47=) | |
X | g.70027876_70027911del | CA261494 | EDA | c.546_581del (p.Gly183_Pro194del) c.150_185del (p.Gly51_Pro62del) | ClinVar dbSNP gnomAD v4 |
X | g.70027876_70027912delinsTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCA | CA2435979546 | EDA | c.546_582delinsTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCA (p.Pro182=) c.150_186delinsTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCA (p.Pro50=) | |
X | g.70027882_70027908del | CA2573159012 | EDA | c.552_578del (p.Asn185_Pro193del) c.156_182del (p.Asn53_Pro61del) | ClinVar dbSNP |
X | g.70027883_70027918del | CA261496 | EDA | c.553_588del (p.Asn185_Pro196del) c.157_192del (p.Asn53_Pro64del) | ClinVar dbSNP |
X | g.70027888_70027906delinsCCCTCCAGGACCCCCAGGA | CA2435979553 | EDA | c.558_576delinsCCCTCCAGGACCCCCAGGA (p.Gly186=) c.162_180delinsCCCTCCAGGACCCCCAGGA (p.Gly54=) | |
X | g.70027902_70027919dup | CA642473159 | EDA | c.572_589dup (p.Pro196_Gln197insProGlyProProGlyPro) c.176_193dup (p.Pro64_Gln65insProGlyProProGlyPro) | dbSNP gnomAD v2 gnomAD v4 |
X | g.70027902_70027919del | CA261498 | EDA | c.572_589del (p.Pro191_Pro196del) c.176_193del (p.Pro59_Pro64del) | ClinVar dbSNP gnomAD v4 |
X | g.70027891_70027919delinsTCCAGGACCCCCAGGACCTCCAGGACCCC | CA2435979557 | EDA | c.561_589delinsTCCAGGACCCCCAGGACCTCCAGGACCCC (p.Pro187=) c.165_193delinsTCCAGGACCCCCAGGACCTCCAGGACCCC (p.Pro55=) | |
X | g.70027900_70027908del | CA330952210 | EDA | c.570_578del (p.Pro191_Pro193del) c.174_182del (p.Pro59_Pro61del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.70027892_70027919del | CA261497 | EDA | c.562_589del (p.Pro188ArgfsTer?) c.166_193del (p.Pro56ArgfsTer?) | ClinVar dbSNP |
X | g.70027902del | CA2693978769 | EDA | c.572del (p.Pro191GlnfsTer?) c.176del (p.Pro59GlnfsTer?) | ClinVar dbSNP gnomAD v4 |
X | g.70027906_70027922del | CA2499226811 | EDA | c.576_592del (p.Pro193ThrfsTer?) c.180_196del (p.Pro61ThrfsTer?) | ClinVar dbSNP |
X | g.70027900_70027909delinsCCCAGGACCT | CA2435979562 | EDA | c.570_579delinsCCCAGGACCT (p.Pro190=) c.174_183delinsCCCAGGACCT (p.Pro58=) | |
X | g.70027901C>A | CA413448265 | EDA | c.571C>A (p.Pro191Thr) c.175C>A (p.Pro59Thr) | gnomAD v4 |
X | g.70027901C>G | CA413448267 | EDA | c.571C>G (p.Pro191Ala) c.175C>G (p.Pro59Ala) | |
X | g.70027901C>T | CA413448266 | EDA | c.571C>T (p.Pro191Ser) c.175C>T (p.Pro59Ser) | gnomAD v4 |
X | g.70027909_70027917del | CA877772384 | EDA | c.579_587del (p.Pro194_Pro196del) c.183_191del (p.Pro62_Pro64del) | dbSNP gnomAD v4 |
X | g.70027902C>A | CA413448268 | EDA | c.572C>A (p.Pro191Gln) c.176C>A (p.Pro59Gln) | |
X | g.70027902C>G | CA413448269 | EDA | c.572C>G (p.Pro191Arg) c.176C>G (p.Pro59Arg) | |
X | g.70027902C>T | CA413448270 | EDA | c.572C>T (p.Pro191Leu) c.176C>T (p.Pro59Leu) | gnomAD v4 |
X | g.70027902_70027920del | CA2695234200 | EDA | c.572_590del (p.Pro191ArgfsTer?) c.176_194del (p.Pro59ArgfsTer?) | |
X | g.70027903A= | CA2435979563 | EDA | c.573A= (p.Pro191=) c.177A= (p.Pro59=) | |
X | g.70027903A>C | CA517012679 | EDA | c.573A>C (p.Pro191=) c.177A>C (p.Pro59=) | |
X | g.70027903A>G | CA517012680 | EDA | c.573A>G (p.Pro191=) c.177A>G (p.Pro59=) | gnomAD v4 |
X | g.70027903A>T | CA517012681 | EDA | c.573A>T (p.Pro191=) c.177A>T (p.Pro59=) | gnomAD v4 |
X | g.70027903_70027920del | CA2695234201 | EDA | c.573_590del (p.Gly192_Gln197del) c.177_194del (p.Gly60_Gln65del) | |
X | g.70027903_70027904insT | CA913184724 | EDA | c.573_574insT (p.Gly192TrpfsTer?) c.177_178insT (p.Gly60TrpfsTer?) | ClinVar dbSNP |
X | g.70027904G>A | CA413448271 | EDA | c.574G>A (p.Gly192Arg) c.178G>A (p.Gly60Arg) | gnomAD v4 |
X | g.70027904G>C | CA413448272 | EDA | c.574G>C (p.Gly192Arg) c.178G>C (p.Gly60Arg) | |
X | g.70027904G>T | CA413448273 | EDA | c.574G>T (p.Gly192Ter) c.178G>T (p.Gly60Ter) | |
X | g.70027905G>A | CA413448274 | EDA | c.575G>A (p.Gly192Glu) c.179G>A (p.Gly60Glu) | |
X | g.70027905G>C | CA413448275 | EDA | c.575G>C (p.Gly192Ala) c.179G>C (p.Gly60Ala) | |
X | g.70027905G>T | CA413448276 | EDA | c.575G>T (p.Gly192Val) c.179G>T (p.Gly60Val) | |
X | g.70027906A>C | CA517012682 | EDA | c.576A>C (p.Gly192=) c.180A>C (p.Gly60=) | |
X | g.70027906A>G | CA517012683 | EDA | c.576A>G (p.Gly192=) c.180A>G (p.Gly60=) | |
X | g.70027906A>T | CA517012684 | EDA | c.576A>T (p.Gly192=) c.180A>T (p.Gly60=) | |
X | g.70027907C>A | CA413448278 | EDA | c.577C>A (p.Pro193Thr) c.181C>A (p.Pro61Thr) | gnomAD v4 |
X | g.70027907C>G | CA413448279 | EDA | c.577C>G (p.Pro193Ala) c.181C>G (p.Pro61Ala) | |
X | g.70027907C>T | CA413448277 | EDA | c.577C>T (p.Pro193Ser) c.181C>T (p.Pro61Ser) | gnomAD v4 |
X | g.70027915_70028027del | CA2499226812 | EDA | c.585_697del (p.Pro196ThrfsTer6) c.189_301del (p.Pro64ThrfsTer6) | ClinVar dbSNP |
X | g.70027908C>A | CA413448280 | EDA | c.578C>A (p.Pro193His) c.182C>A (p.Pro61His) | gnomAD v4 |
X | g.70027908C= | CA2435979564 | EDA | c.578C= (p.Pro193=) c.182C= (p.Pro61=) | |
X | g.70027908C>G | CA413448281 | EDA | c.578C>G (p.Pro193Arg) c.182C>G (p.Pro61Arg) | |
X | g.70027908C>T | CA10438966 | EDA | c.578C>T (p.Pro193Leu) c.182C>T (p.Pro61Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.70027909del | CA2695234202 | EDA | c.579del (p.Pro194GlnfsTer?) c.183del (p.Pro62GlnfsTer?) | |
X | g.70027909T>A | CA517012686 | EDA | c.579T>A (p.Pro193=) c.183T>A (p.Pro61=) | |
X | g.70027909T>C | CA517012687 | EDA | c.579T>C (p.Pro193=) c.183T>C (p.Pro61=) | gnomAD v4 |
X | g.70027909T>G | CA517012685 | EDA | c.579T>G (p.Pro193=) c.183T>G (p.Pro61=) | |
X | g.70027909_70027927delinsTCCAGGACCCCAGGGACCC | CA2435979565 | EDA | c.579_597delinsTCCAGGACCCCAGGGACCC (p.Pro193=) c.183_201delinsTCCAGGACCCCAGGGACCC (p.Pro61=) |