OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| 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.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=) | |
| 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=) | |
| X | g.70027915_70027916delinsAC | CA2435979566 | EDA | c.585_586delinsAC (p.Gly195=) c.189_190delinsAC (p.Gly63=) | |
| X | g.70027916C>A | CA330952211 | EDA | c.586C>A (p.Pro196Thr) c.190C>A (p.Pro64Thr) | dbSNP gnomAD v4 |
| X | g.70027916C= | CA2435979567 | EDA | c.586C= (p.Pro196=) c.190C= (p.Pro64=) | |
| X | g.70027916C>G | CA413448294 | EDA | c.586C>G (p.Pro196Ala) c.190C>G (p.Pro64Ala) | |
| X | g.70027916C>T | CA413448295 | EDA | c.586C>T (p.Pro196Ser) c.190C>T (p.Pro64Ser) | |
| X | g.70027919del | CA916083962 | EDA | c.589del (p.Gln197ArgfsTer?) c.193del (p.Gln65ArgfsTer?) | ClinVar dbSNP |
| X | g.70027917C>A | CA413448296 | EDA | c.587C>A (p.Pro196His) c.191C>A (p.Pro64His) | dbSNP gnomAD v4 |
| X | g.70027917C= | CA2435979568 | EDA | c.587C= (p.Pro196=) c.191C= (p.Pro64=) | |
| X | g.70027917C>G | CA413448297 | EDA | c.587C>G (p.Pro196Arg) c.191C>G (p.Pro64Arg) | |
| X | g.70027917C>T | CA413448298 | EDA | c.587C>T (p.Pro196Leu) c.191C>T (p.Pro64Leu) | gnomAD v4 |
| X | g.70027919_70027947del | CA2695234203 | EDA | c.589_617del (p.Gln197TrpfsTer?) c.193_221del (p.Gln65TrpfsTer?) | |
| X | g.70027918C>A | CA517012694 | EDA | c.588C>A (p.Pro196=) c.192C>A (p.Pro64=) | ClinVar dbSNP gnomAD v4 |
| X | g.70027918C= | CA2435979569 | EDA | c.588C= (p.Pro196=) c.192C= (p.Pro64=) | |
| X | g.70027918C>G | CA517012695 | EDA | c.588C>G (p.Pro196=) c.192C>G (p.Pro64=) | |
| X | g.70027918C>T | CA517012696 | EDA | c.588C>T (p.Pro196=) c.192C>T (p.Pro64=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.70027925_70027943del | CA2573159013 | EDA | c.595_613del (p.Pro199PhefsTer?) c.199_217del (p.Pro67PhefsTer?) | ClinVar dbSNP |
| X | g.70027919C>A | CA413448299 | EDA | c.589C>A (p.Gln197Lys) c.193C>A (p.Gln65Lys) | gnomAD v4 |
| X | g.70027919C= | CA2435979570 | EDA | c.589C= (p.Gln197=) c.193C= (p.Gln65=) | |
| X | g.70027919C>G | CA413448301 | EDA | c.589C>G (p.Gln197Glu) c.193C>G (p.Gln65Glu) | |
| X | g.70027919C>T | CA413448300 | EDA | c.589C>T (p.Gln197Ter) c.193C>T (p.Gln65Ter) | dbSNP gnomAD v2 |
| X | g.70027920A>C | CA413448302 | EDA | c.590A>C (p.Gln197Pro) c.194A>C (p.Gln65Pro) | gnomAD v4 |
| X | g.70027920A>G | CA413448303 | EDA | c.590A>G (p.Gln197Arg) c.194A>G (p.Gln65Arg) | gnomAD v4 |
| X | g.70027920A>T | CA413448304 | EDA | c.590A>T (p.Gln197Leu) c.194A>T (p.Gln65Leu) | |
| X | g.70027920_70027921delinsAG | CA2435979571 | EDA | c.590_591delinsAG (p.Gln197=) c.194_195delinsAG (p.Gln65=) | |
| X | g.70027921G>A | CA517012697 | EDA | c.591G>A (p.Gln197=) c.195G>A (p.Gln65=) | dbSNP gnomAD v4 |
| X | g.70027921G>C | CA413448305 | EDA | c.591G>C (p.Gln197His) c.195G>C (p.Gln65His) | |
| X | g.70027921G= | CA2435979572 | EDA | c.591G= (p.Gln197=) c.195G= (p.Gln65=) | |
| X | g.70027921G>T | CA413448306 | EDA | c.591G>T (p.Gln197His) c.195G>T (p.Gln65His) | dbSNP gnomAD v4 |
| X | g.70027923del | CA658659004 | EDA | c.593del (p.Gly198AspfsTer?) c.197del (p.Gly66AspfsTer?) | ClinVar dbSNP |
| X | g.70027922G>A | CA413448308 | EDA | c.592G>A (p.Gly198Arg) c.196G>A (p.Gly66Arg) | |
| X | g.70027922G>C | CA413448309 | EDA | c.592G>C (p.Gly198Arg) c.196G>C (p.Gly66Arg) | |
| X | g.70027922G>T | CA413448307 | EDA | c.592G>T (p.Gly198Ter) c.196G>T (p.Gly66Ter) | gnomAD v4 |
| X | g.70027923G>A | CA413448312 | EDA | c.593G>A (p.Gly198Glu) c.197G>A (p.Gly66Glu) | |
| X | g.70027923G>C | CA413448310 | EDA | c.593G>C (p.Gly198Ala) c.197G>C (p.Gly66Ala) | |
| X | g.70027923G>T | CA413448311 | EDA | c.593G>T (p.Gly198Val) c.197G>T (p.Gly66Val) | gnomAD v4 |
| X | g.70027924A>C | CA517012700 | EDA | c.594A>C (p.Gly198=) c.198A>C (p.Gly66=) | |
| X | g.70027924A>G | CA517012699 | EDA | c.594A>G (p.Gly198=) c.198A>G (p.Gly66=) | gnomAD v4 |
| X | g.70027924A>T | CA517012698 | EDA | c.594A>T (p.Gly198=) c.198A>T (p.Gly66=) | |
| X | g.70027924_70027925delinsAC | CA2435979573 | EDA | c.594_595delinsAC (p.Gly198=) c.198_199delinsAC (p.Gly66=) | |
| X | g.70027925C>A | CA413448313 | EDA | c.595C>A (p.Pro199Thr) c.199C>A (p.Pro67Thr) | gnomAD v4 |
| X | g.70027925C>G | CA413448314 | EDA | c.595C>G (p.Pro199Ala) c.199C>G (p.Pro67Ala) | |
| X | g.70027925C>T | CA413448315 | EDA | c.595C>T (p.Pro199Ser) c.199C>T (p.Pro67Ser) | |
| X | g.70027929dup | CA658659005 | EDA | c.599dup (p.Gly201ArgfsTer?) c.203dup (p.Gly69ArgfsTer?) | ClinVar dbSNP |
| X | g.70027929del | CA915951151 | EDA | c.599del (p.Pro200GlnfsTer?) c.203del (p.Pro68GlnfsTer?) | ClinVar dbSNP gnomAD v4 |
| X | g.70027926C>A | CA413448318 | EDA | c.596C>A (p.Pro199His) c.200C>A (p.Pro67His) | gnomAD v4 |
| X | g.70027926C>G | CA413448317 | EDA | c.596C>G (p.Pro199Arg) c.200C>G (p.Pro67Arg) | |
| X | g.70027926C>T | CA413448316 | EDA | c.596C>T (p.Pro199Leu) c.200C>T (p.Pro67Leu) | gnomAD v4 |
| X | g.70027927C>A | CA517012701 | EDA | c.597C>A (p.Pro199=) c.201C>A (p.Pro67=) | gnomAD v4 |
| X | g.70027927C= | CA2435979574 | EDA | c.597C= (p.Pro199=) c.201C= (p.Pro67=) | |
| X | g.70027927C>G | CA517012703 | EDA | c.597C>G (p.Pro199=) c.201C>G (p.Pro67=) | |
| X | g.70027927C>T | CA517012704 | EDA | c.597C>T (p.Pro199=) c.201C>T (p.Pro67=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027927_70027954delinsCCCAGGAATTCCAGGGATTCCTGGAATT | CA2435979575 | EDA | c.597_624delinsCCCAGGAATTCCAGGGATTCCTGGAATT (p.Pro199=) c.201_228delinsCCCAGGAATTCCAGGGATTCCTGGAATT (p.Pro67=) | |
| X | g.70027928C>A | CA413448319 | EDA | c.598C>A (p.Pro200Thr) c.202C>A (p.Pro68Thr) | gnomAD v4 |
| X | g.70027928C= | CA2435979576 | EDA | c.598C= (p.Pro200=) c.202C= (p.Pro68=) | |
| X | g.70027928C>G | CA413448320 | EDA | c.598C>G (p.Pro200Ala) c.202C>G (p.Pro68Ala) | |
| X | g.70027928C>T | CA413448321 | EDA | c.598C>T (p.Pro200Ser) c.202C>T (p.Pro68Ser) | dbSNP |
| X | g.70027930_70027947del | CA2821678337 | EDA | c.600_617del (p.Gly201_Pro206del) c.204_221del (p.Gly69_Pro74del) | |
| X | g.70027935_70027961del | CA915951152 | EDA | c.605_631del (p.Ile202_Gly210del) c.209_235del (p.Ile70_Gly78del) | ClinVar dbSNP |
| X | g.70027929C>A | CA133749 | EDA | c.599C>A (p.Pro200Gln) c.203C>A (p.Pro68Gln) | ClinVar dbSNP gnomAD v4 |
| X | g.70027929C= | CA2435979577 | EDA | c.599C= (p.Pro200=) c.203C= (p.Pro68=) | |
| X | g.70027929C>G | CA413448322 | EDA | c.599C>G (p.Pro200Arg) c.203C>G (p.Pro68Arg) | |
| X | g.70027929C>T | CA413448323 | EDA | c.599C>T (p.Pro200Leu) c.203C>T (p.Pro68Leu) | gnomAD v4 |
| X | g.70027929_70027930del | CA2821678338 | EDA | c.599_600del (p.Pro200ArgfsTer?) c.203_204del (p.Pro68ArgfsTer?) | |
| X | g.70027930A>C | CA517012705 | EDA | c.600A>C (p.Pro200=) c.204A>C (p.Pro68=) | |
| X | g.70027930A>G | CA517012706 | EDA | c.600A>G (p.Pro200=) c.204A>G (p.Pro68=) | gnomAD v4 |
| X | g.70027930A>T | CA517012707 | EDA | c.600A>T (p.Pro200=) c.204A>T (p.Pro68=) | gnomAD v4 |
| X | g.70027930_70027948delinsAGGAATTCCAGGGATTCCT | CA2435979578 | EDA | c.600_618delinsAGGAATTCCAGGGATTCCT (p.Pro200=) c.204_222delinsAGGAATTCCAGGGATTCCT (p.Pro68=) | |
| X | g.70027931G>A | CA413448326 | EDA | c.601G>A (p.Gly201Arg) c.205G>A (p.Gly69Arg) | |
| X | g.70027931G>C | CA413448324 | EDA | c.601G>C (p.Gly201Arg) c.205G>C (p.Gly69Arg) | |
| X | g.70027931G>T | CA413448325 | EDA | c.601G>T (p.Gly201Ter) c.205G>T (p.Gly69Ter) | gnomAD v4 |
| X | g.70027942_70027959del | CA16621472 | EDA | c.612_629del (p.Ile205_Gly210del) c.216_233del (p.Ile73_Gly78del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027932G>A | CA413448327 | EDA | c.602G>A (p.Gly201Glu) c.206G>A (p.Gly69Glu) | ClinVar dbSNP |
| X | g.70027932G>C | CA413448328 | EDA | c.602G>C (p.Gly201Ala) c.206G>C (p.Gly69Ala) | |
| X | g.70027932G>T | CA413448329 | EDA | c.602G>T (p.Gly201Val) c.206G>T (p.Gly69Val) | gnomAD v4 |
| X | g.70027932_70028016del | CA2821678339 | EDA | c.602_686del (p.Gly201ValfsTer?) c.206_290del (p.Gly69ValfsTer?) | |
| X | g.70027933A>C | CA517012708 | EDA | c.603A>C (p.Gly201=) c.207A>C (p.Gly69=) | |
| X | g.70027933A>G | CA517012709 | EDA | c.603A>G (p.Gly201=) c.207A>G (p.Gly69=) | |
| X | g.70027933A>T | CA517012710 | EDA | c.603A>T (p.Gly201=) c.207A>T (p.Gly69=) | |
| X | g.70027934A>C | CA413448330 | EDA | c.604A>C (p.Ile202Leu) c.208A>C (p.Ile70Leu) | |
| X | g.70027934A>G | CA413448331 | EDA | c.604A>G (p.Ile202Val) c.208A>G (p.Ile70Val) | |
| X | g.70027934A>T | CA413448332 | EDA | c.604A>T (p.Ile202Phe) c.208A>T (p.Ile70Phe) | |
| X | g.70027939_70027947del | CA2579632460 | EDA | c.609_617del (p.Gly204_Pro206del) c.213_221del (p.Gly72_Pro74del) | |
| X | g.70027935T>A | CA413448333 | EDA | c.605T>A (p.Ile202Asn) c.209T>A (p.Ile70Asn) | |
| X | g.70027935T>C | CA413448334 | EDA | c.605T>C (p.Ile202Thr) c.209T>C (p.Ile70Thr) | |
| X | g.70027935T>G | CA413448335 | EDA | c.605T>G (p.Ile202Ser) c.209T>G (p.Ile70Ser) | |
| X | g.70027936T>A | CA517012711 | EDA | c.606T>A (p.Ile202=) c.210T>A (p.Ile70=) | gnomAD v4 |
| X | g.70027936T>C | CA517012712 | EDA | c.606T>C (p.Ile202=) c.210T>C (p.Ile70=) | |
| X | g.70027936T>G | CA413448336 | EDA | c.606T>G (p.Ile202Met) c.210T>G (p.Ile70Met) | |
| X | g.70027944_70028029del | CA2499226813 | EDA | c.614_699del (p.Ile205ThrfsTer6) c.218_303del (p.Ile73ThrfsTer6) | ClinVar dbSNP |
| X | g.70027937C>A | CA413448337 | EDA | c.607C>A (p.Pro203Thr) c.211C>A (p.Pro71Thr) | ClinVar dbSNP gnomAD v4 |
| X | g.70027937C= | CA2435979579 | EDA | c.607C= (p.Pro203=) c.211C= (p.Pro71=) | |
| X | g.70027937C>G | CA413448338 | EDA | c.607C>G (p.Pro203Ala) c.211C>G (p.Pro71Ala) | ClinVar |
| X | g.70027937C>T | CA261501 | EDA | c.607C>T (p.Pro203Ser) c.211C>T (p.Pro71Ser) | ClinVar dbSNP |
| X | g.70027938C>A | CA413448341 | EDA | c.608C>A (p.Pro203Gln) c.212C>A (p.Pro71Gln) | gnomAD v4 |
| X | g.70027938C= | CA2435979580 | EDA | c.608C= (p.Pro203=) c.212C= (p.Pro71=) | |
| X | g.70027938C>G | CA413448339 | EDA | c.608C>G (p.Pro203Arg) c.212C>G (p.Pro71Arg) | |
| X | g.70027938C>T | CA413448340 | EDA | c.608C>T (p.Pro203Leu) c.212C>T (p.Pro71Leu) | ClinVar dbSNP |
| X | g.70027939A>C | CA517012713 | EDA | c.609A>C (p.Pro203=) c.213A>C (p.Pro71=) | |
| X | g.70027939A>G | CA517012714 | EDA | c.609A>G (p.Pro203=) c.213A>G (p.Pro71=) | gnomAD v4 |
| X | g.70027939A>T | CA517012715 | EDA | c.609A>T (p.Pro203=) c.213A>T (p.Pro71=) | gnomAD v4 |
| X | g.70027940G>A | CA413448342 | EDA | c.610G>A (p.Gly204Arg) c.214G>A (p.Gly72Arg) | ClinVar dbSNP |
| X | g.70027940G>C | CA413448343 | EDA | c.610G>C (p.Gly204Arg) c.214G>C (p.Gly72Arg) | |
| X | g.70027940G= | CA2435979581 | EDA | c.610G= (p.Gly204=) c.214G= (p.Gly72=) | |
| X | g.70027940G>T | CA413448344 | EDA | c.610G>T (p.Gly204Trp) c.214G>T (p.Gly72Trp) | gnomAD v4 |
| X | g.70027942del | CA2695234204 | EDA | c.612del (p.Ile205PhefsTer?) c.216del (p.Ile73PhefsTer?) | |
| X | g.70027941G>A | CA413448345 | EDA | c.611G>A (p.Gly204Glu) c.215G>A (p.Gly72Glu) | ClinVar gnomAD v4 |
| X | g.70027941G>C | CA413448346 | EDA | c.611G>C (p.Gly204Ala) c.215G>C (p.Gly72Ala) | |
| X | g.70027941G>T | CA413448347 | EDA | c.611G>T (p.Gly204Val) c.215G>T (p.Gly72Val) | gnomAD v4 |
| X | g.70027942G>A | CA10438967 | EDA | c.612G>A (p.Gly204=) c.216G>A (p.Gly72=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70027942G>C | CA517012716 | EDA | c.612G>C (p.Gly204=) c.216G>C (p.Gly72=) | |
| X | g.70027942G= | CA2435979582 | EDA | c.612G= (p.Gly204=) c.216G= (p.Gly72=) | |
| X | g.70027942G>T | CA517012717 | EDA | c.612G>T (p.Gly204=) c.216G>T (p.Gly72=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027943A= | CA2435979583 | EDA | c.613A= (p.Ile205=) c.217A= (p.Ile73=) | |
| X | g.70027943A>C | CA413448348 | EDA | c.613A>C (p.Ile205Leu) c.217A>C (p.Ile73Leu) | |
| X | g.70027943A>G | CA413448350 | EDA | c.613A>G (p.Ile205Val) c.217A>G (p.Ile73Val) | |
| X | g.70027943A>T | CA413448349 | EDA | c.613A>T (p.Ile205Phe) c.217A>T (p.Ile73Phe) | ClinVar dbSNP |
| X | g.70027948_70027956del | CA2693978770 | EDA | c.618_626del (p.Gly207_Pro209del) c.222_230del (p.Gly75_Pro77del) | gnomAD v4 |
| X | g.70027944T>A | CA413448351 | EDA | c.614T>A (p.Ile205Asn) c.218T>A (p.Ile73Asn) | |
| X | g.70027944T>C | CA413448352 | EDA | c.614T>C (p.Ile205Thr) c.218T>C (p.Ile73Thr) | |
| X | g.70027944T>G | CA413448353 | EDA | c.614T>G (p.Ile205Ser) c.218T>G (p.Ile73Ser) | |
| X | g.70027945del | CA2695234205 | EDA | c.615del (p.Pro206LeufsTer?) c.219del (p.Pro74LeufsTer?) | |
| X | g.70027945T>A | CA517012718 | EDA | c.615T>A (p.Ile205=) c.219T>A (p.Ile73=) | |
| X | g.70027945T>C | CA517012719 | EDA | c.615T>C (p.Ile205=) c.219T>C (p.Ile73=) | |
| X | g.70027945T>G | CA413448354 | EDA | c.615T>G (p.Ile205Met) c.219T>G (p.Ile73Met) | |
| X | g.70027946C>A | CA413448357 | EDA | c.616C>A (p.Pro206Thr) c.220C>A (p.Pro74Thr) | gnomAD v4 |
| X | g.70027946C>G | CA413448355 | EDA | c.616C>G (p.Pro206Ala) c.220C>G (p.Pro74Ala) | |
| X | g.70027946C>T | CA413448356 | EDA | c.616C>T (p.Pro206Ser) c.220C>T (p.Pro74Ser) | |
| X | g.70027947C>A | CA413448358 | EDA | c.617C>A (p.Pro206His) c.221C>A (p.Pro74His) | gnomAD v4 |
| X | g.70027947C= | CA2435979584 | EDA | c.617C= (p.Pro206=) c.221C= (p.Pro74=) | |
| X | g.70027947C>G | CA413448359 | EDA | c.617C>G (p.Pro206Arg) c.221C>G (p.Pro74Arg) | |
| X | g.70027947C>T | CA16608975 | EDA | c.617C>T (p.Pro206Leu) c.221C>T (p.Pro74Leu) | ClinVar dbSNP |
| X | g.70027948T>A | CA517012720 | EDA | c.618T>A (p.Pro206=) c.222T>A (p.Pro74=) | COSMIC COSMIC |
| X | g.70027948T>C | CA517012721 | EDA | c.618T>C (p.Pro206=) c.222T>C (p.Pro74=) | gnomAD v4 |
| X | g.70027948T>G | CA517012722 | EDA | c.618T>G (p.Pro206=) c.222T>G (p.Pro74=) | |
| X | g.70027949G>A | CA413448360 | EDA | c.619G>A (p.Gly207Arg) c.223G>A (p.Gly75Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.70027949G>C | CA413448361 | EDA | c.619G>C (p.Gly207Arg) c.223G>C (p.Gly75Arg) | |
| X | g.70027949G>T | CA413448362 | EDA | c.619G>T (p.Gly207Ter) c.223G>T (p.Gly75Ter) | |
| X | g.70027950G>A | CA413448363 | EDA | c.620G>A (p.Gly207Glu) c.224G>A (p.Gly75Glu) | ClinVar dbSNP |
| X | g.70027950G>C | CA413448364 | EDA | c.620G>C (p.Gly207Ala) c.224G>C (p.Gly75Ala) | |
| X | g.70027950G= | CA2435979585 | EDA | c.620G= (p.Gly207=) c.224G= (p.Gly75=) | |
| X | g.70027950G>T | CA413448365 | EDA | c.620G>T (p.Gly207Val) c.224G>T (p.Gly75Val) | gnomAD v4 |
| X | g.70027951A>C | CA517012725 | EDA | c.621A>C (p.Gly207=) c.225A>C (p.Gly75=) | |
| X | g.70027951A>G | CA517012724 | EDA | c.621A>G (p.Gly207=) c.225A>G (p.Gly75=) | |
| X | g.70027951A>T | CA517012723 | EDA | c.621A>T (p.Gly207=) c.225A>T (p.Gly75=) | |
| X | g.70027952A>C | CA413448366 | EDA | c.622A>C (p.Ile208Leu) c.226A>C (p.Ile76Leu) | |
| X | g.70027952A>G | CA413448367 | EDA | c.622A>G (p.Ile208Val) c.226A>G (p.Ile76Val) | |
| X | g.70027952A>T | CA413448368 | EDA | c.622A>T (p.Ile208Phe) c.226A>T (p.Ile76Phe) | |
| X | g.70027953T>A | CA413448369 | EDA | c.623T>A (p.Ile208Asn) c.227T>A (p.Ile76Asn) | |
| X | g.70027953T>C | CA413448371 | EDA | c.623T>C (p.Ile208Thr) c.227T>C (p.Ile76Thr) | gnomAD v4 |
| X | g.70027953T>G | CA413448370 | EDA | c.623T>G (p.Ile208Ser) c.227T>G (p.Ile76Ser) | |
| X | g.70027954T>A | CA517012727 | EDA | c.624T>A (p.Ile208=) c.228T>A (p.Ile76=) | |
| X | g.70027954T>C | CA517012726 | EDA | c.624T>C (p.Ile208=) c.228T>C (p.Ile76=) | |
| X | g.70027954T>G | CA413448372 | EDA | c.624T>G (p.Ile208Met) c.228T>G (p.Ile76Met) | |
| X | g.70027955C>A | CA413448375 | EDA | c.625C>A (p.Pro209Thr) c.229C>A (p.Pro77Thr) | gnomAD v4 |
| X | g.70027955C>G | CA413448373 | EDA | c.625C>G (p.Pro209Ala) c.229C>G (p.Pro77Ala) | |
| X | g.70027955C>T | CA413448374 | EDA | c.625C>T (p.Pro209Ser) c.229C>T (p.Pro77Ser) | ClinVar |
| X | g.70027956C>A | CA413448376 | EDA | c.626C>A (p.Pro209Gln) c.230C>A (p.Pro77Gln) | gnomAD v4 |
| X | g.70027956C= | CA2435979586 | EDA | c.626C= (p.Pro209=) c.230C= (p.Pro77=) | |
| X | g.70027956C>G | CA413448377 | EDA | c.626C>G (p.Pro209Arg) c.230C>G (p.Pro77Arg) | |
| X | g.70027956C>T | CA181048 | EDA | c.626C>T (p.Pro209Leu) c.230C>T (p.Pro77Leu) | ClinVar dbSNP |
| X | g.70027957A>C | CA517012728 | EDA | c.627A>C (p.Pro209=) c.231A>C (p.Pro77=) | |
| X | g.70027957A>G | CA517012730 | EDA | c.627A>G (p.Pro209=) c.231A>G (p.Pro77=) | |
| X | g.70027957A>T | CA517012729 | EDA | c.627A>T (p.Pro209=) c.231A>T (p.Pro77=) | |
| X | g.70027958G>A | CA413448378 | EDA | c.628G>A (p.Gly210Arg) c.232G>A (p.Gly78Arg) | ClinVar dbSNP |
| X | g.70027958G>C | CA413448379 | EDA | c.628G>C (p.Gly210Arg) c.232G>C (p.Gly78Arg) | ClinVar dbSNP |
| X | g.70027958G= | CA2435979587 | EDA | c.628G= (p.Gly210=) c.232G= (p.Gly78=) | |
| X | g.70027958G>T | CA413448380 | EDA | c.628G>T (p.Gly210Ter) c.232G>T (p.Gly78Ter) | ClinVar dbSNP gnomAD v4 |
| X | g.70027959G>A | CA413448381 | EDA | c.629G>A (p.Gly210Glu) c.233G>A (p.Gly78Glu) | gnomAD v4 |
| X | g.70027959G>C | CA413448382 | EDA | c.629G>C (p.Gly210Ala) c.233G>C (p.Gly78Ala) | |
| X | g.70027959G>T | CA413448383 | EDA | c.629G>T (p.Gly210Val) c.233G>T (p.Gly78Val) | |
| X | g.70027960A>C | CA517012731 | EDA | c.630A>C (p.Gly210=) c.234A>C (p.Gly78=) | |
| X | g.70027960A>G | CA517012732 | EDA | c.630A>G (p.Gly210=) c.234A>G (p.Gly78=) | |
| X | g.70027960A>T | CA517012733 | EDA | c.630A>T (p.Gly210=) c.234A>T (p.Gly78=) | |
| X | g.70027961A>C | CA413448386 | EDA | c.631A>C (p.Thr211Pro) c.235A>C (p.Thr79Pro) | |
| X | g.70027961A>G | CA413448385 | EDA | c.631A>G (p.Thr211Ala) c.235A>G (p.Thr79Ala) | |
| X | g.70027961A>T | CA413448384 | EDA | c.631A>T (p.Thr211Ser) c.235A>T (p.Thr79Ser) | |
| X | g.70027962C>A | CA413448387 | EDA | c.632C>A (p.Thr211Lys) c.236C>A (p.Thr79Lys) | gnomAD v4 |
| X | g.70027962C>G | CA413448388 | EDA | c.632C>G (p.Thr211Arg) c.236C>G (p.Thr79Arg) | ClinVar dbSNP |
| X | g.70027962C>T | CA413448389 | EDA | c.632C>T (p.Thr211Ile) c.236C>T (p.Thr79Ile) | gnomAD v4 |
| X | g.70027963A>C | CA517012734 | EDA | c.633A>C (p.Thr211=) c.237A>C (p.Thr79=) | |
| X | g.70027963A>G | CA517012736 | EDA | c.633A>G (p.Thr211=) c.237A>G (p.Thr79=) | |
| X | g.70027963A>T | CA517012735 | EDA | c.633A>T (p.Thr211=) c.237A>T (p.Thr79=) | |
| X | g.70027964A= | CA2435979588 | EDA | c.634A= (p.Thr212=) c.238A= (p.Thr80=) | |
| X | g.70027964A>C | CA413448390 | EDA | c.634A>C (p.Thr212Pro) c.238A>C (p.Thr80Pro) | |
| X | g.70027964A>G | CA413448391 | EDA | c.634A>G (p.Thr212Ala) c.238A>G (p.Thr80Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027964A>T | CA413448392 | EDA | c.634A>T (p.Thr212Ser) c.238A>T (p.Thr80Ser) | |
| X | g.70027965C>A | CA10438968 | EDA | c.635C>A (p.Thr212Asn) c.239C>A (p.Thr80Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70027965C= | CA2435979589 | EDA | c.635C= (p.Thr212=) c.239C= (p.Thr80=) | |
| X | g.70027965C>G | CA413448393 | EDA | c.635C>G (p.Thr212Ser) c.239C>G (p.Thr80Ser) | |
| X | g.70027965C>T | CA413448394 | EDA | c.635C>T (p.Thr212Ile) c.239C>T (p.Thr80Ile) | |
| X | g.70027966del | CA2695234206 | EDA | c.636del (p.Val213LeufsTer?) c.240del (p.Val81LeufsTer?) | |
| X | g.70027966T>A | CA517012737 | EDA | c.636T>A (p.Thr212=) c.240T>A (p.Thr80=) | ClinVar |
| X | g.70027966T>C | CA517012738 | EDA | c.636T>C (p.Thr212=) c.240T>C (p.Thr80=) | |
| X | g.70027966T>G | CA517012739 | EDA | c.636T>G (p.Thr212=) c.240T>G (p.Thr80=) | |
| X | g.70027967G>A | CA413448395 | EDA | c.637G>A (p.Val213Ile) c.241G>A (p.Val81Ile) | gnomAD v4 |
| X | g.70027967G>C | CA413448396 | EDA | c.637G>C (p.Val213Leu) c.241G>C (p.Val81Leu) | |
| X | g.70027967G>T | CA413448397 | EDA | c.637G>T (p.Val213Phe) c.241G>T (p.Val81Phe) | |
| X | g.70027968T>A | CA413448399 | EDA | c.638T>A (p.Val213Asp) c.242T>A (p.Val81Asp) | |
| X | g.70027968T>C | CA413448400 | EDA | c.638T>C (p.Val213Ala) c.242T>C (p.Val81Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027968T>G | CA413448398 | EDA | c.638T>G (p.Val213Gly) c.242T>G (p.Val81Gly) | |
| X | g.70027968T= | CA2435979590 | EDA | c.638T= (p.Val213=) c.242T= (p.Val81=) | |
| X | g.70027968_70027969dup | CA2693978771 | EDA | c.638_639dup (p.Met214LeufsTer?) c.242_243dup (p.Met82LeufsTer?) | gnomAD v4 |
| X | g.70027969del | CA2695234207 | EDA | c.639del (p.Met214TrpfsTer?) c.243del (p.Met82TrpfsTer?) | |
| X | g.70027969T>A | CA517012740 | EDA | c.639T>A (p.Val213=) c.243T>A (p.Val81=) | |
| X | g.70027969T>C | CA517012741 | EDA | c.639T>C (p.Val213=) c.243T>C (p.Val81=) | |
| X | g.70027969T>G | CA517012742 | EDA | c.639T>G (p.Val213=) c.243T>G (p.Val81=) | dbSNP |
| X | g.70027969T= | CA2435979591 | EDA | c.639T= (p.Val213=) c.243T= (p.Val81=) | |
| X | g.70027970A>C | CA413448401 | EDA | c.640A>C (p.Met214Leu) c.244A>C (p.Met82Leu) | |
| X | g.70027970A>G | CA413448402 | EDA | c.640A>G (p.Met214Val) c.244A>G (p.Met82Val) | gnomAD v4 |
| X | g.70027970A>T | CA413448403 | EDA | c.640A>T (p.Met214Leu) c.244A>T (p.Met82Leu) | gnomAD v4 |
| X | g.70027970dup | CA2695234208 | EDA | c.640dup (p.Met214AsnfsTer26) c.244dup (p.Met82AsnfsTer26) | |
| X | g.70027971T>A | CA413448404 | EDA | c.641T>A (p.Met214Lys) c.245T>A (p.Met82Lys) | ClinVar dbSNP |
| X | g.70027971T>C | CA413448405 | EDA | c.641T>C (p.Met214Thr) c.245T>C (p.Met82Thr) | |
| X | g.70027971T>G | CA413448406 | EDA | c.641T>G (p.Met214Arg) c.245T>G (p.Met82Arg) | |
| X | g.70027971T= | CA2435979592 | EDA | c.641T= (p.Met214=) c.245T= (p.Met82=) | |
| X | g.70027972G>A | CA413448407 | EDA | c.642G>A (p.Met214Ile) c.246G>A (p.Met82Ile) | |
| X | g.70027972G>C | CA413448408 | EDA | c.642G>C (p.Met214Ile) c.246G>C (p.Met82Ile) | |
| X | g.70027972G>T | CA413448409 | EDA | c.642G>T (p.Met214Ile) c.246G>T (p.Met82Ile) | |
| X | g.70027972_70028008delinsGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAA | CA2435979593 | EDA | c.642_678delinsGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAA (p.Met214=) c.246_282delinsGGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAA (p.Met82=) | |
| X | g.70027973G>A | CA413448410 | EDA | c.643G>A (p.Gly215Arg) c.247G>A (p.Gly83Arg) | |
| X | g.70027973G>C | CA413448411 | EDA | c.643G>C (p.Gly215Arg) c.247G>C (p.Gly83Arg) | |
| X | g.70027973G>T | CA413448412 | EDA | c.643G>T (p.Gly215Ter) c.247G>T (p.Gly83Ter) | ClinVar dbSNP |
| X | g.70027978_70028013del | CA10577173 | EDA | c.648_683del (p.Pro217_Pro228del) c.252_287del (p.Pro85_Pro96del) | ClinVar dbSNP |
| X | g.70027974G>A | CA413448415 | EDA | c.644G>A (p.Gly215Glu) c.248G>A (p.Gly83Glu) | ClinVar |
| X | g.70027974G>C | CA413448414 | EDA | c.644G>C (p.Gly215Ala) c.248G>C (p.Gly83Ala) | |
| X | g.70027974G>T | CA413448413 | EDA | c.644G>T (p.Gly215Val) c.248G>T (p.Gly83Val) | gnomAD v4 |
| X | g.70027975A>C | CA517012743 | EDA | c.645A>C (p.Gly215=) c.249A>C (p.Gly83=) | gnomAD v4 |
| X | g.70027975A>G | CA517012744 | EDA | c.645A>G (p.Gly215=) c.249A>G (p.Gly83=) | |
| X | g.70027975A>T | CA517012745 | EDA | c.645A>T (p.Gly215=) c.249A>T (p.Gly83=) | |
| X | g.70027976C>A | CA413448416 | EDA | c.646C>A (p.Pro216Thr) c.250C>A (p.Pro84Thr) | |
| X | g.70027976C= | CA2435979594 | EDA | c.646C= (p.Pro216=) c.250C= (p.Pro84=) | |
| X | g.70027976C>G | CA413448417 | EDA | c.646C>G (p.Pro216Ala) c.250C>G (p.Pro84Ala) | |
| X | g.70027976C>T | CA413448418 | EDA | c.646C>T (p.Pro216Ser) c.250C>T (p.Pro84Ser) | ClinVar dbSNP |
| X | g.70027978_70027995del | CA2695234209 | EDA | c.648_665del (p.Pro217_Pro222del) c.252_269del (p.Pro85_Pro90del) | |
| X | g.70027977C>A | CA413448419 | EDA | c.647C>A (p.Pro216Gln) c.251C>A (p.Pro84Gln) | |
| X | g.70027977C>G | CA413448420 | EDA | c.647C>G (p.Pro216Arg) c.251C>G (p.Pro84Arg) | |
| X | g.70027977C>T | CA413448421 | EDA | c.647C>T (p.Pro216Leu) c.251C>T (p.Pro84Leu) | |
| X | g.70027978A>C | CA517012746 | EDA | c.648A>C (p.Pro216=) c.252A>C (p.Pro84=) | |
| X | g.70027978A>G | CA517012747 | EDA | c.648A>G (p.Pro216=) c.252A>G (p.Pro84=) | |
| X | g.70027978A>T | CA517012748 | EDA | c.648A>T (p.Pro216=) c.252A>T (p.Pro84=) | |
| X | g.70027978_70027996delinsACCTGGTCCTCCAGGTCCT | CA2435979595 | EDA | c.648_666delinsACCTGGTCCTCCAGGTCCT (p.Pro216=) c.252_270delinsACCTGGTCCTCCAGGTCCT (p.Pro84=) | |
| X | g.70027979C>A | CA413448422 | EDA | c.649C>A (p.Pro217Thr) c.253C>A (p.Pro85Thr) | |
| X | g.70027979C= | CA2435979596 | EDA | c.649C= (p.Pro217=) c.253C= (p.Pro85=) | |
| X | g.70027979C>G | CA330952212 | EDA | c.649C>G (p.Pro217Ala) c.253C>G (p.Pro85Ala) | dbSNP gnomAD v4 |
| X | g.70027979C>T | CA413448423 | EDA | c.649C>T (p.Pro217Ser) c.253C>T (p.Pro85Ser) | |
| X | g.70027989_70028006del | CA10577176 | EDA | c.659_676del (p.Pro220_Pro225del) c.263_280del (p.Pro88_Pro93del) | ClinVar dbSNP |
| X | g.70027980C>A | CA413448424 | EDA | c.650C>A (p.Pro217His) c.254C>A (p.Pro85His) | COSMIC COSMIC |
| X | g.70027980C>G | CA413448425 | EDA | c.650C>G (p.Pro217Arg) c.254C>G (p.Pro85Arg) | |
| X | g.70027980C>T | CA413448426 | EDA | c.650C>T (p.Pro217Leu) c.254C>T (p.Pro85Leu) | |
| X | g.70027981T>A | CA517012749 | EDA | c.651T>A (p.Pro217=) c.255T>A (p.Pro85=) | |
| X | g.70027981T>C | CA517012750 | EDA | c.651T>C (p.Pro217=) c.255T>C (p.Pro85=) | |
| X | g.70027981T>G | CA517012751 | EDA | c.651T>G (p.Pro217=) c.255T>G (p.Pro85=) | |
| X | g.70027981_70027990delinsTGGTCCTCCA | CA2435979597 | EDA | c.651_660delinsTGGTCCTCCA (p.Pro217=) c.255_264delinsTGGTCCTCCA (p.Pro85=) | |
| X | g.70027982G>A | CA413448429 | EDA | c.652G>A (p.Gly218Ser) c.256G>A (p.Gly86Ser) | |
| X | g.70027982G>C | CA413448427 | EDA | c.652G>C (p.Gly218Arg) c.256G>C (p.Gly86Arg) | |
| X | g.70027982G>T | CA413448428 | EDA | c.652G>T (p.Gly218Cys) c.256G>T (p.Gly86Cys) | gnomAD v4 |
| X | g.70027990_70027998del | CA642473171 | EDA | c.660_668del (p.Gly221_Pro223del) c.264_272del (p.Gly89_Pro91del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70027983G>A | CA413448430 | EDA | c.653G>A (p.Gly218Asp) c.257G>A (p.Gly86Asp) | |
| X | g.70027983G>C | CA413448431 | EDA | c.653G>C (p.Gly218Ala) c.257G>C (p.Gly86Ala) | |
| X | g.70027983G>T | CA413448432 | EDA | c.653G>T (p.Gly218Val) c.257G>T (p.Gly86Val) | |
| X | g.70027984T>A | CA517012752 | EDA | c.654T>A (p.Gly218=) c.258T>A (p.Gly86=) | |
| X | g.70027984T>C | CA517012753 | EDA | c.654T>C (p.Gly218=) c.258T>C (p.Gly86=) | |
| X | g.70027984T>G | CA517012754 | EDA | c.654T>G (p.Gly218=) c.258T>G (p.Gly86=) | |
| X | g.70027984_70028019delinsTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGG | CA2435979598 | EDA | c.654_689delinsTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGG (p.Gly218=) c.258_293delinsTCCTCCAGGTCCTCCTGGTCCTCAAGGACCCCCTGG (p.Gly86=) | |
| X | g.70027985C>A | CA413448433 | EDA | c.655C>A (p.Pro219Thr) c.259C>A (p.Pro87Thr) | gnomAD v4 |
| X | g.70027985C>G | CA413448434 | EDA | c.655C>G (p.Pro219Ala) c.259C>G (p.Pro87Ala) | |
| X | g.70027985C>T | CA413448435 | EDA | c.655C>T (p.Pro219Ser) c.259C>T (p.Pro87Ser) | gnomAD v4 COSMIC COSMIC |
| X | g.70027993_70028027del | CA261500 | EDA | c.663_697del (p.Pro222ThrfsTer6) c.267_301del (p.Pro90ThrfsTer6) | ClinVar dbSNP |
| X | g.70027986C>A | CA413448436 | EDA | c.656C>A (p.Pro219His) c.260C>A (p.Pro87His) | |
| X | g.70027986C>G | CA413448437 | EDA | c.656C>G (p.Pro219Arg) c.260C>G (p.Pro87Arg) | |
| X | g.70027986C>T | CA413448438 | EDA | c.656C>T (p.Pro219Leu) c.260C>T (p.Pro87Leu) | |
| X | g.70027987T>A | CA517012755 | EDA | c.657T>A (p.Pro219=) c.261T>A (p.Pro87=) | |
| X | g.70027987T>C | CA517012756 | EDA | c.657T>C (p.Pro219=) c.261T>C (p.Pro87=) | |
| X | g.70027987T>G | CA517012757 | EDA | c.657T>G (p.Pro219=) c.261T>G (p.Pro87=) | |
| X | g.70027988C>A | CA413448439 | EDA | c.658C>A (p.Pro220Thr) c.262C>A (p.Pro88Thr) | |
| X | g.70027988C= | CA2435979599 | EDA | c.658C= (p.Pro220=) c.262C= (p.Pro88=) | |
| X | g.70027988C>G | CA413448440 | EDA | c.658C>G (p.Pro220Ala) c.262C>G (p.Pro88Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027988C>T | CA413448441 | EDA | c.658C>T (p.Pro220Ser) c.262C>T (p.Pro88Ser) | |
| X | g.70027989C>A | CA413448442 | EDA | c.659C>A (p.Pro220Gln) c.263C>A (p.Pro88Gln) | gnomAD v4 |
| X | g.70027989C>G | CA413448443 | EDA | c.659C>G (p.Pro220Arg) c.263C>G (p.Pro88Arg) | |
| X | g.70027989C>T | CA413448444 | EDA | c.659C>T (p.Pro220Leu) c.263C>T (p.Pro88Leu) | ClinVar dbSNP |
| X | g.70027990A>C | CA517012758 | EDA | c.660A>C (p.Pro220=) c.264A>C (p.Pro88=) | |
| X | g.70027990A>G | CA517012759 | EDA | c.660A>G (p.Pro220=) c.264A>G (p.Pro88=) | gnomAD v4 |
| X | g.70027990A>T | CA517012760 | EDA | c.660A>T (p.Pro220=) c.264A>T (p.Pro88=) | |
| X | g.70027990_70027999delinsAGGTCCTCCT | CA2435979600 | EDA | c.660_669delinsAGGTCCTCCT (p.Pro220=) c.264_273delinsAGGTCCTCCT (p.Pro88=) | |
| X | g.70027993_70028010del | CA2695234210 | EDA | c.663_680del (p.Pro222_Gly227del) c.267_284del (p.Pro90_Gly95del) | |
| X | g.70027991G>A | CA413448447 | EDA | c.661G>A (p.Gly221Ser) c.265G>A (p.Gly89Ser) | |
| X | g.70027991G>C | CA413448446 | EDA | c.661G>C (p.Gly221Arg) c.265G>C (p.Gly89Arg) | |
| X | g.70027991G>T | CA413448445 | EDA | c.661G>T (p.Gly221Cys) c.265G>T (p.Gly89Cys) | gnomAD v4 |
| X | g.70027998_70028006del | CA877772593 | EDA | c.668_676del (p.Pro223_Pro225del) c.272_280del (p.Pro91_Pro93del) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.70027992G>A | CA413448448 | EDA | c.662G>A (p.Gly221Asp) c.266G>A (p.Gly89Asp) | ClinVar gnomAD v4 |
| X | g.70027992G>C | CA413448449 | EDA | c.662G>C (p.Gly221Ala) c.266G>C (p.Gly89Ala) | |
| X | g.70027992G>T | CA413448450 | EDA | c.662G>T (p.Gly221Val) c.266G>T (p.Gly89Val) | |
| X | g.70027993T>A | CA517012761 | EDA | c.663T>A (p.Gly221=) c.267T>A (p.Gly89=) | |
| X | g.70027993T>C | CA517012762 | EDA | c.663T>C (p.Gly221=) c.267T>C (p.Gly89=) | |
| X | g.70027993T>G | CA517012763 | EDA | c.663T>G (p.Gly221=) c.267T>G (p.Gly89=) | |
| X | g.70027994C>A | CA413448451 | EDA | c.664C>A (p.Pro222Thr) c.268C>A (p.Pro90Thr) | |
| X | g.70027994C>G | CA413448452 | EDA | c.664C>G (p.Pro222Ala) c.268C>G (p.Pro90Ala) | |
| X | g.70027994C>T | CA413448453 | EDA | c.664C>T (p.Pro222Ser) c.268C>T (p.Pro90Ser) | |
| X | g.70027995C>A | CA413448454 | EDA | c.665C>A (p.Pro222His) c.269C>A (p.Pro90His) | |
| X | g.70027995C>G | CA413448455 | EDA | c.665C>G (p.Pro222Arg) c.269C>G (p.Pro90Arg) | |
| X | g.70027995C>T | CA413448456 | EDA | c.665C>T (p.Pro222Leu) c.269C>T (p.Pro90Leu) | COSMIC COSMIC |
| X | g.70027996T>A | CA517012764 | EDA | c.666T>A (p.Pro222=) c.270T>A (p.Pro90=) | |
| X | g.70027996T>C | CA517012765 | EDA | c.666T>C (p.Pro222=) c.270T>C (p.Pro90=) | |
| X | g.70027996T>G | CA517012766 | EDA | c.666T>G (p.Pro222=) c.270T>G (p.Pro90=) | |
| X | g.70027997C>A | CA413448457 | EDA | c.667C>A (p.Pro223Thr) c.271C>A (p.Pro91Thr) | |
| X | g.70027997C>G | CA413448458 | EDA | c.667C>G (p.Pro223Ala) c.271C>G (p.Pro91Ala) | |
| X | g.70027997C>T | CA413448459 | EDA | c.667C>T (p.Pro223Ser) c.271C>T (p.Pro91Ser) | |
| X | g.70027997_70028033delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT | CA2435979601 | EDA | c.667_703delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT (p.Pro223=) c.271_307delinsCCTGGTCCTCAAGGACCCCCTGGCCTCCAGGGACCTT (p.Pro91=) | |
| X | g.70027998C>A | CA413448460 | EDA | c.668C>A (p.Pro223His) c.272C>A (p.Pro91His) | gnomAD v4 |
| X | g.70027998C>G | CA413448462 | EDA | c.668C>G (p.Pro223Arg) c.272C>G (p.Pro91Arg) | |
| X | g.70027998C>T | CA413448461 | EDA | c.668C>T (p.Pro223Leu) c.272C>T (p.Pro91Leu) | |
| X | g.70028003_70028038del | CA916083963 | EDA | c.673_706+2del c.277_310+2del | ClinVar dbSNP |
| X | g.70027999del | CA2693978772 | EDA | c.669del (p.Gly224ValfsTer?) c.273del (p.Gly92ValfsTer?) | gnomAD v4 |
| X | g.70027999T>A | CA517012767 | EDA | c.669T>A (p.Pro223=) c.273T>A (p.Pro91=) | |
| X | g.70027999T>C | CA517012768 | EDA | c.669T>C (p.Pro223=) c.273T>C (p.Pro91=) | gnomAD v4 |
| X | g.70027999T>G | CA517012769 | EDA | c.669T>G (p.Pro223=) c.273T>G (p.Pro91=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027999T= | CA2435979602 | EDA | c.669T= (p.Pro223=) c.273T= (p.Pro91=) | |
| X | g.70028000G>A | CA413448463 | EDA | c.670G>A (p.Gly224Ser) c.274G>A (p.Gly92Ser) | gnomAD v4 |
| X | g.70028000G>C | CA413448464 | EDA | c.670G>C (p.Gly224Arg) c.274G>C (p.Gly92Arg) | ClinVar dbSNP |
| X | g.70028000G= | CA2435979603 | EDA | c.670G= (p.Gly224=) c.274G= (p.Gly92=) | |
| X | g.70028000G>T | CA413448465 | EDA | c.670G>T (p.Gly224Cys) c.274G>T (p.Gly92Cys) | |
| X | g.70028001G>A | CA413448466 | EDA | c.671G>A (p.Gly224Asp) c.275G>A (p.Gly92Asp) | |
| X | g.70028001G>C | CA255656 | EDA | c.671G>C (p.Gly224Ala) c.275G>C (p.Gly92Ala) | ClinVar dbSNP |
| X | g.70028001G= | CA2435979604 | EDA | c.671G= (p.Gly224=) c.275G= (p.Gly92=) | |
| X | g.70028001G>T | CA413448467 | EDA | c.671G>T (p.Gly224Val) c.275G>T (p.Gly92Val) | |
| X | g.70028002T>A | CA517012770 | EDA | c.672T>A (p.Gly224=) c.276T>A (p.Gly92=) | |
| X | g.70028002T>C | CA517012771 | EDA | c.672T>C (p.Gly224=) c.276T>C (p.Gly92=) | ClinVar gnomAD v4 |
| X | g.70028002T>G | CA517012772 | EDA | c.672T>G (p.Gly224=) c.276T>G (p.Gly92=) | |
| X | g.70028003C>A | CA413448468 | EDA | c.673C>A (p.Pro225Thr) c.277C>A (p.Pro93Thr) | gnomAD v4 |
| X | g.70028003C>G | CA413448469 | EDA | c.673C>G (p.Pro225Ala) c.277C>G (p.Pro93Ala) | |
| X | g.70028003C>T | CA413448470 | EDA | c.673C>T (p.Pro225Ser) c.277C>T (p.Pro93Ser) | |
| X | g.70028004C>A | CA413448471 | EDA | c.674C>A (p.Pro225His) c.278C>A (p.Pro93His) | gnomAD v4 |
| X | g.70028004C>G | CA413448472 | EDA | c.674C>G (p.Pro225Arg) c.278C>G (p.Pro93Arg) | |
| X | g.70028004C>T | CA413448473 | EDA | c.674C>T (p.Pro225Leu) c.278C>T (p.Pro93Leu) |