Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.70027909_70027917del | CA877772384 | EDA | c.579_587del (p.Pro194_Pro196del) c.183_191del (p.Pro62_Pro64del) | dbSNP gnomAD v4 |
X | g.70027902_70027920del | CA2695234200 | EDA | c.572_590del (p.Pro191ArgfsTer?) c.176_194del (p.Pro59ArgfsTer?) | |
X | g.70027903_70027920del | CA2695234201 | EDA | c.573_590del (p.Gly192_Gln197del) c.177_194del (p.Gly60_Gln65del) | |
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=) | |
X | g.70027910C>A | CA413448282 | EDA | c.580C>A (p.Pro194Thr) c.184C>A (p.Pro62Thr) | |
X | g.70027910C>G | CA413448283 | EDA | c.580C>G (p.Pro194Ala) c.184C>G (p.Pro62Ala) | |
X | g.70027910C>T | CA413448284 | EDA | c.580C>T (p.Pro194Ser) c.184C>T (p.Pro62Ser) | |
X | g.70027916_70027933del | CA642473160 | EDA | c.586_603del (p.Pro196_Gly201del) c.190_207del (p.Pro64_Gly69del) | dbSNP gnomAD v2 gnomAD v4 |
X | g.70027911C>A | CA413448285 | EDA | c.581C>A (p.Pro194Gln) c.185C>A (p.Pro62Gln) | gnomAD v4 COSMIC COSMIC |
X | g.70027911C>G | CA413448286 | EDA | c.581C>G (p.Pro194Arg) c.185C>G (p.Pro62Arg) | |
X | g.70027911C>T | CA413448287 | EDA | c.581C>T (p.Pro194Leu) c.185C>T (p.Pro62Leu) | gnomAD v4 |
X | g.70027912A>C | CA517012688 | EDA | c.582A>C (p.Pro194=) c.186A>C (p.Pro62=) | |
X | g.70027912A>G | CA517012689 | EDA | c.582A>G (p.Pro194=) c.186A>G (p.Pro62=) | gnomAD v4 |
X | g.70027912A>T | CA517012690 | EDA | c.582A>T (p.Pro194=) c.186A>T (p.Pro62=) | ClinVar dbSNP gnomAD v4 |
X | g.70027913G>A | CA413448288 | EDA | c.583G>A (p.Gly195Arg) c.187G>A (p.Gly63Arg) | gnomAD v4 |
X | g.70027913G>C | CA413448289 | EDA | c.583G>C (p.Gly195Arg) c.187G>C (p.Gly63Arg) | |
X | g.70027913G>T | CA413448290 | EDA | c.583G>T (p.Gly195Ter) c.187G>T (p.Gly63Ter) | gnomAD v4 |
X | g.70027914G>A | CA413448292 | EDA | c.584G>A (p.Gly195Glu) c.188G>A (p.Gly63Glu) | |
X | g.70027914G>C | CA413448293 | EDA | c.584G>C (p.Gly195Ala) c.188G>C (p.Gly63Ala) | |
X | g.70027914G>T | CA413448291 | EDA | c.584G>T (p.Gly195Val) c.188G>T (p.Gly63Val) | |
X | g.70027915A>C | CA517012691 | EDA | c.585A>C (p.Gly195=) c.189A>C (p.Gly63=) | |
X | g.70027915A>G | CA517012692 | EDA | c.585A>G (p.Gly195=) c.189A>G (p.Gly63=) | |
X | g.70027915A>T | CA517012693 | EDA | c.585A>T (p.Gly195=) c.189A>T (p.Gly63=) |