UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.70027862A>C | CA413448183 | EDA | c.532A>C (p.Lys178Gln) c.136A>C (p.Lys46Gln) | |
| X | g.70027862A>G | CA413448184 | EDA | c.532A>G (p.Lys178Glu) c.136A>G (p.Lys46Glu) | ClinVar gnomAD v4 |
| X | g.70027862A>T | CA413448185 | EDA | c.532A>T (p.Lys178Ter) c.136A>T (p.Lys46Ter) | |
| X | g.70027862_70027864delinsG | CA2695234198 | EDA | c.532_534delinsG (p.Lys178GlyfsTer?) c.136_138delinsG (p.Lys46GlyfsTer?) | |
| X | g.70027863A>C | CA413448186 | EDA | c.533A>C (p.Lys178Thr) c.137A>C (p.Lys46Thr) | |
| X | g.70027863A>G | CA413448187 | EDA | c.533A>G (p.Lys178Arg) c.137A>G (p.Lys46Arg) | gnomAD v4 |
| X | g.70027863A>T | CA413448188 | EDA | c.533A>T (p.Lys178Ile) c.137A>T (p.Lys46Ile) | |
| X | g.70027863_70027874del | CA2580101362 | EDA | c.533_544del (p.Lys178_Pro182delinsThr) c.137_148del (p.Lys46_Pro50delinsThr) | ClinVar |
| X | g.70027863_70027882delinsCTGAA | CA2695234199 | EDA | c.533_552delinsCTGAA (p.Lys178_Pro184delinsThrGlu) c.137_156delinsCTGAA (p.Lys46_Pro52delinsThrGlu) | |
| X | g.70027864A>C | CA413448190 | EDA | c.534A>C (p.Lys178Asn) c.138A>C (p.Lys46Asn) | |
| X | g.70027864A>G | CA517012646 | EDA | c.534A>G (p.Lys178=) c.138A>G (p.Lys46=) | |
| X | g.70027864A>T | CA413448189 | EDA | c.534A>T (p.Lys178Asn) c.138A>T (p.Lys46Asn) | |
| X | g.70027865G>A | CA413448191 | EDA | c.535G>A (p.Ala179Thr) c.139G>A (p.Ala47Thr) | |
| X | g.70027865G>C | CA413448193 | EDA | c.535G>C (p.Ala179Pro) c.139G>C (p.Ala47Pro) | gnomAD v4 |
| X | g.70027865G>T | CA413448192 | EDA | c.535G>T (p.Ala179Ser) c.139G>T (p.Ala47Ser) | gnomAD v4 |
| X | g.70027865_70027901delinsGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCC | CA2435979542 | EDA | c.535_571delinsGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCC (p.Ala179=) c.139_175delinsGCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCC (p.Ala47=) | |
| X | g.70027866C>A | CA413448194 | EDA | c.536C>A (p.Ala179Glu) c.140C>A (p.Ala47Glu) | gnomAD v4 |
| X | g.70027866C>G | CA413448196 | EDA | c.536C>G (p.Ala179Gly) c.140C>G (p.Ala47Gly) | |
| X | g.70027866C>T | CA413448195 | EDA | c.536C>T (p.Ala179Val) c.140C>T (p.Ala47Val) | gnomAD v4 |
| X | g.70027873_70027899del | CA2697553198 | EDA | c.543_569del (p.Pro182_Pro190del) c.147_173del (p.Pro50_Pro58del) | ClinVar |
| X | g.70027876_70027911del | CA261494 | EDA | c.546_581del (p.Gly183_Pro194del) c.150_185del (p.Gly51_Pro62del) | ClinVar dbSNP gnomAD v4 |
| X | g.70027867A>C | CA517012647 | EDA | c.537A>C (p.Ala179=) c.141A>C (p.Ala47=) | |
| X | g.70027867A>G | CA517012648 | EDA | c.537A>G (p.Ala179=) c.141A>G (p.Ala47=) | |
| X | g.70027867A>T | CA517012649 | EDA | c.537A>T (p.Ala179=) c.141A>T (p.Ala47=) | |
| X | g.70027868_70027870dup | CA2693978764 | EDA | c.538_540dup (p.Gly180_Pro181insGly) c.142_144dup (p.Gly48_Pro49insGly) | gnomAD v4 |
| X | g.70027868G>A | CA413448197 | EDA | c.538G>A (p.Gly180Arg) c.142G>A (p.Gly48Arg) | |
| X | g.70027868G>C | CA413448198 | EDA | c.538G>C (p.Gly180Arg) c.142G>C (p.Gly48Arg) | |
| X | g.70027868G>T | CA413448199 | EDA | c.538G>T (p.Gly180Ter) c.142G>T (p.Gly48Ter) | gnomAD v4 |
| X | g.70027869G>A | CA413448200 | EDA | c.539G>A (p.Gly180Glu) c.143G>A (p.Gly48Glu) | |
| X | g.70027869G>C | CA413448201 | EDA | c.539G>C (p.Gly180Ala) c.143G>C (p.Gly48Ala) | |
| X | g.70027869G>T | CA413448202 | EDA | c.539G>T (p.Gly180Val) c.143G>T (p.Gly48Val) | gnomAD v4 |
| X | g.70027870A>C | CA517012650 | EDA | c.540A>C (p.Gly180=) c.144A>C (p.Gly48=) | gnomAD v4 |
| X | g.70027870A>G | CA517012651 | EDA | c.540A>G (p.Gly180=) c.144A>G (p.Gly48=) | ClinVar |
| X | g.70027870A>T | CA517012652 | EDA | c.540A>T (p.Gly180=) c.144A>T (p.Gly48=) | |
| X | g.70027871C>A | CA413448203 | EDA | c.541C>A (p.Pro181Thr) c.145C>A (p.Pro49Thr) | gnomAD v4 |
| X | g.70027871C>G | CA413448204 | EDA | c.541C>G (p.Pro181Ala) c.145C>G (p.Pro49Ala) | |
| X | g.70027871C>T | CA413448205 | EDA | c.541C>T (p.Pro181Ser) c.145C>T (p.Pro49Ser) | |
| X | g.70027876_70027893del | CA2693978765 | EDA | c.546_563del (p.Gly183_Pro188del) c.150_167del (p.Gly51_Pro56del) | gnomAD v4 |
| X | g.70027872C>A | CA413448206 | EDA | c.542C>A (p.Pro181His) c.146C>A (p.Pro49His) | gnomAD v4 |
| X | g.70027872C= | CA2435979543 | EDA | c.542C= (p.Pro181=) c.146C= (p.Pro49=) | |
| X | g.70027872C>G | CA413448207 | EDA | c.542C>G (p.Pro181Arg) c.146C>G (p.Pro49Arg) | gnomAD v4 |
| X | g.70027872C>T | CA413448208 | EDA | c.542C>T (p.Pro181Leu) c.146C>T (p.Pro49Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.70027873T>A | CA517012653 | EDA | c.543T>A (p.Pro181=) c.147T>A (p.Pro49=) | gnomAD v4 |
| X | g.70027873T>C | CA517012654 | EDA | c.543T>C (p.Pro181=) c.147T>C (p.Pro49=) | gnomAD v4 |
| X | g.70027873T>G | CA517012655 | EDA | c.543T>G (p.Pro181=) c.147T>G (p.Pro49=) | |
| X | g.70027874C>A | CA413448209 | EDA | c.544C>A (p.Pro182Thr) c.148C>A (p.Pro50Thr) | gnomAD v4 |
| X | g.70027874C= | CA2435979544 | EDA | c.544C= (p.Pro182=) c.148C= (p.Pro50=) | |
| X | g.70027874C>G | CA413448211 | EDA | c.544C>G (p.Pro182Ala) c.148C>G (p.Pro50Ala) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027874C>T | CA413448210 | EDA | c.544C>T (p.Pro182Ser) c.148C>T (p.Pro50Ser) | |
| X | g.70027875C>A | CA413448212 | EDA | c.545C>A (p.Pro182His) c.149C>A (p.Pro50His) | gnomAD v4 |
| X | g.70027875C= | CA2435979545 | EDA | c.545C= (p.Pro182=) c.149C= (p.Pro50=) | |
| X | g.70027875C>G | CA413448213 | EDA | c.545C>G (p.Pro182Arg) c.149C>G (p.Pro50Arg) | |
| X | g.70027875C>T | CA413448214 | EDA | c.545C>T (p.Pro182Leu) c.149C>T (p.Pro50Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027876T>A | CA517012656 | EDA | c.546T>A (p.Pro182=) c.150T>A (p.Pro50=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027876T>C | CA517012657 | EDA | c.546T>C (p.Pro182=) c.150T>C (p.Pro50=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70027876T>G | CA10438964 | EDA | c.546T>G (p.Pro182=) c.150T>G (p.Pro50=) | ClinVar dbSNP ExAC gnomAD v4 |
| X | g.70027876T= | CA2435979547 | EDA | c.546T= (p.Pro182=) c.150T= (p.Pro50=) | |
| X | g.70027876_70027912delinsTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCA | CA2435979546 | EDA | c.546_582delinsTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCA (p.Pro182=) c.150_186delinsTGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCA (p.Pro50=) | |
| X | g.70027877G>A | CA413448215 | EDA | c.547G>A (p.Gly183Arg) c.151G>A (p.Gly51Arg) | gnomAD v4 |
| X | g.70027877G>C | CA413448216 | EDA | c.547G>C (p.Gly183Arg) c.151G>C (p.Gly51Arg) | |
| X | g.70027877G= | CA2435979548 | EDA | c.547G= (p.Gly183=) c.151G= (p.Gly51=) | |
| X | g.70027877G>T | CA413448217 | EDA | c.547G>T (p.Gly183Ter) c.151G>T (p.Gly51Ter) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027878del | CA2579632459 | EDA | c.548del (p.Gly183AspfsTer?) c.152del (p.Gly51AspfsTer?) | |
| 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.70027878G>A | CA413448218 | EDA | c.548G>A (p.Gly183Glu) c.152G>A (p.Gly51Glu) | |
| X | g.70027878G>C | CA413448219 | EDA | c.548G>C (p.Gly183Ala) c.152G>C (p.Gly51Ala) | |
| X | g.70027878G>T | CA413448220 | EDA | c.548G>T (p.Gly183Val) c.152G>T (p.Gly51Val) | gnomAD v4 |
| X | g.70027879A>C | CA517012660 | EDA | c.549A>C (p.Gly183=) c.153A>C (p.Gly51=) | |
| X | g.70027879A>G | CA517012658 | EDA | c.549A>G (p.Gly183=) c.153A>G (p.Gly51=) | gnomAD v4 |
| X | g.70027879A>T | CA517012659 | EDA | c.549A>T (p.Gly183=) c.153A>T (p.Gly51=) | |
| X | g.70027880C>A | CA413448221 | EDA | c.550C>A (p.Pro184Thr) c.154C>A (p.Pro52Thr) | gnomAD v4 COSMIC COSMIC |
| X | g.70027880C>G | CA413448222 | EDA | c.550C>G (p.Pro184Ala) c.154C>G (p.Pro52Ala) | |
| X | g.70027880C>T | CA413448223 | EDA | c.550C>T (p.Pro184Ser) c.154C>T (p.Pro52Ser) | ClinVar gnomAD v4 |
| X | g.70027882del | CA2693978766 | EDA | c.552del (p.Asn185MetfsTer?) c.156del (p.Asn53MetfsTer?) | gnomAD v4 |
| X | g.70027881C>A | CA413448224 | EDA | c.551C>A (p.Pro184His) c.155C>A (p.Pro52His) | gnomAD v4 |
| X | g.70027881C= | CA2435979549 | EDA | c.551C= (p.Pro184=) c.155C= (p.Pro52=) | |
| X | g.70027881C>G | CA413448225 | EDA | c.551C>G (p.Pro184Arg) c.155C>G (p.Pro52Arg) | gnomAD v4 |
| X | g.70027881C>T | CA413448226 | EDA | c.551C>T (p.Pro184Leu) c.155C>T (p.Pro52Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027882C>A | CA517012661 | EDA | c.552C>A (p.Pro184=) c.156C>A (p.Pro52=) | ClinVar gnomAD v4 |
| X | g.70027882C>G | CA517012662 | EDA | c.552C>G (p.Pro184=) c.156C>G (p.Pro52=) | gnomAD v4 |
| X | g.70027882C>T | CA517012663 | EDA | c.552C>T (p.Pro184=) c.156C>T (p.Pro52=) | gnomAD v4 |
| X | g.70027883A>C | CA413448227 | EDA | c.553A>C (p.Asn185His) c.157A>C (p.Asn53His) | |
| X | g.70027883A>G | CA413448228 | EDA | c.553A>G (p.Asn185Asp) c.157A>G (p.Asn53Asp) | |
| X | g.70027883A>T | CA413448229 | EDA | c.553A>T (p.Asn185Tyr) c.157A>T (p.Asn53Tyr) | gnomAD v4 |
| X | g.70027884A= | CA2435979550 | EDA | c.554A= (p.Asn185=) c.158A= (p.Asn53=) | |
| X | g.70027884A>C | CA413448230 | EDA | c.554A>C (p.Asn185Thr) c.158A>C (p.Asn53Thr) | |
| X | g.70027884A>G | CA413448231 | EDA | c.554A>G (p.Asn185Ser) c.158A>G (p.Asn53Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70027884A>T | CA413448232 | EDA | c.554A>T (p.Asn185Ile) c.158A>T (p.Asn53Ile) | |
| X | g.70027885T>A | CA413448233 | EDA | c.555T>A (p.Asn185Lys) c.159T>A (p.Asn53Lys) | |
| X | g.70027885T>C | CA517012664 | EDA | c.555T>C (p.Asn185=) c.159T>C (p.Asn53=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70027885T>G | CA413448234 | EDA | c.555T>G (p.Asn185Lys) c.159T>G (p.Asn53Lys) | gnomAD v4 |
| X | g.70027885T= | CA2435979551 | EDA | c.555T= (p.Asn185=) c.159T= (p.Asn53=) | |
| X | g.70027886G>A | CA413448237 | EDA | c.556G>A (p.Gly186Ser) c.160G>A (p.Gly54Ser) | gnomAD v4 |
| X | g.70027886G>C | CA413448235 | EDA | c.556G>C (p.Gly186Arg) c.160G>C (p.Gly54Arg) | gnomAD v4 |
| X | g.70027886G>T | CA413448236 | EDA | c.556G>T (p.Gly186Cys) c.160G>T (p.Gly54Cys) | gnomAD v4 |
| X | g.70027888_70027896dup | CA1134049083 | EDA | c.558_566dup (p.Gly189_Pro190insProProGly) c.162_170dup (p.Gly57_Pro58insProProGly) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.70027887G>A | CA413448238 | EDA | c.557G>A (p.Gly186Asp) c.161G>A (p.Gly54Asp) | |
| X | g.70027887G>C | CA413448239 | EDA | c.557G>C (p.Gly186Ala) c.161G>C (p.Gly54Ala) | |
| X | g.70027887G= | CA2435979552 | EDA | c.557G= (p.Gly186=) c.161G= (p.Gly54=) | |
| X | g.70027887G>T | CA413448240 | EDA | c.557G>T (p.Gly186Val) c.161G>T (p.Gly54Val) | |
| X | g.70027888C>A | CA517012665 | EDA | c.558C>A (p.Gly186=) c.162C>A (p.Gly54=) | gnomAD v4 |
| X | g.70027888C= | CA2435979554 | EDA | c.558C= (p.Gly186=) c.162C= (p.Gly54=) | |
| X | g.70027888C>G | CA517012666 | EDA | c.558C>G (p.Gly186=) c.162C>G (p.Gly54=) | |
| X | g.70027888C>T | CA517012667 | EDA | c.558C>T (p.Gly186=) c.162C>T (p.Gly54=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027890dup | CA658659003 | EDA | c.560dup (p.Pro188SerfsTer?) c.164dup (p.Pro56SerfsTer?) | ClinVar dbSNP |
| X | g.70027890del | CA2693978767 | EDA | c.560del (p.Pro187LeufsTer?) c.164del (p.Pro55LeufsTer?) | gnomAD v4 |
| X | g.70027888_70027906delinsCCCTCCAGGACCCCCAGGA | CA2435979553 | EDA | c.558_576delinsCCCTCCAGGACCCCCAGGA (p.Gly186=) c.162_180delinsCCCTCCAGGACCCCCAGGA (p.Gly54=) | |
| X | g.70027889C>A | CA413448241 | EDA | c.559C>A (p.Pro187Thr) c.163C>A (p.Pro55Thr) | gnomAD v4 |
| X | g.70027889C>G | CA413448242 | EDA | c.559C>G (p.Pro187Ala) c.163C>G (p.Pro55Ala) | |
| X | g.70027889C>T | CA413448243 | EDA | c.559C>T (p.Pro187Ser) c.163C>T (p.Pro55Ser) | gnomAD v4 |
| 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.70027890C>A | CA413448244 | EDA | c.560C>A (p.Pro187His) c.164C>A (p.Pro55His) | gnomAD v4 |
| X | g.70027890C>G | CA413448245 | EDA | c.560C>G (p.Pro187Arg) c.164C>G (p.Pro55Arg) | |
| X | g.70027890C>T | CA413448246 | EDA | c.560C>T (p.Pro187Leu) c.164C>T (p.Pro55Leu) | |
| X | g.70027891T>A | CA517012668 | EDA | c.561T>A (p.Pro187=) c.165T>A (p.Pro55=) | gnomAD v4 |
| X | g.70027891T>C | CA10438965 | EDA | c.561T>C (p.Pro187=) c.165T>C (p.Pro55=) | dbSNP ExAC gnomAD v4 |
| X | g.70027891T>G | CA517012669 | EDA | c.561T>G (p.Pro187=) c.165T>G (p.Pro55=) | |
| X | g.70027891T= | CA2435979556 | EDA | c.561T= (p.Pro187=) c.165T= (p.Pro55=) | |
| X | g.70027891_70027900delinsTCCAGGACCC | CA2435979555 | EDA | c.561_570delinsTCCAGGACCC (p.Pro187=) c.165_174delinsTCCAGGACCC (p.Pro55=) | |
| X | g.70027891_70027919delinsTCCAGGACCCCCAGGACCTCCAGGACCCC | CA2435979557 | EDA | c.561_589delinsTCCAGGACCCCCAGGACCTCCAGGACCCC (p.Pro187=) c.165_193delinsTCCAGGACCCCCAGGACCTCCAGGACCCC (p.Pro55=) | |
| X | g.70027892C>A | CA413448249 | EDA | c.562C>A (p.Pro188Thr) c.166C>A (p.Pro56Thr) | |
| X | g.70027892C= | CA2435979558 | EDA | c.562C= (p.Pro188=) c.166C= (p.Pro56=) | |
| X | g.70027892C>G | CA413448248 | EDA | c.562C>G (p.Pro188Ala) c.166C>G (p.Pro56Ala) | |
| X | g.70027892C>T | CA413448247 | EDA | c.562C>T (p.Pro188Ser) c.166C>T (p.Pro56Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.70027893del | CA2693978768 | EDA | c.563del (p.Pro188GlnfsTer?) c.167del (p.Pro56GlnfsTer?) | gnomAD v4 |
| 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.70027893C>A | CA413448250 | EDA | c.563C>A (p.Pro188Gln) c.167C>A (p.Pro56Gln) | gnomAD v4 |
| X | g.70027893C>G | CA413448252 | EDA | c.563C>G (p.Pro188Arg) c.167C>G (p.Pro56Arg) | |
| X | g.70027893C>T | CA413448251 | EDA | c.563C>T (p.Pro188Leu) c.167C>T (p.Pro56Leu) | |
| X | g.70027894A>C | CA517012672 | EDA | c.564A>C (p.Pro188=) c.168A>C (p.Pro56=) | |
| X | g.70027894A>G | CA517012670 | EDA | c.564A>G (p.Pro188=) c.168A>G (p.Pro56=) | ClinVar gnomAD v4 |
| X | g.70027894A>T | CA517012671 | EDA | c.564A>T (p.Pro188=) c.168A>T (p.Pro56=) | gnomAD v4 |
| X | g.70027895G>A | CA413448253 | EDA | c.565G>A (p.Gly189Arg) c.169G>A (p.Gly57Arg) | ClinVar gnomAD v4 |
| X | g.70027895G>C | CA413448254 | EDA | c.565G>C (p.Gly189Arg) c.169G>C (p.Gly57Arg) | |
| X | g.70027895G>T | CA413448255 | EDA | c.565G>T (p.Gly189Ter) c.169G>T (p.Gly57Ter) | gnomAD v4 |
| X | g.70027896G>A | CA413448256 | EDA | c.566G>A (p.Gly189Glu) c.170G>A (p.Gly57Glu) | gnomAD v4 |
| X | g.70027896G>C | CA413448257 | EDA | c.566G>C (p.Gly189Ala) c.170G>C (p.Gly57Ala) | |
| X | g.70027896G>T | CA413448258 | EDA | c.566G>T (p.Gly189Val) c.170G>T (p.Gly57Val) | gnomAD v4 |
| X | g.70027897A= | CA2435979559 | EDA | c.567A= (p.Gly189=) c.171A= (p.Gly57=) | |
| X | g.70027897A>C | CA517012673 | EDA | c.567A>C (p.Gly189=) c.171A>C (p.Gly57=) | dbSNP |
| X | g.70027897A>G | CA517012674 | EDA | c.567A>G (p.Gly189=) c.171A>G (p.Gly57=) | gnomAD v4 |
| X | g.70027897A>T | CA517012675 | EDA | c.567A>T (p.Gly189=) c.171A>T (p.Gly57=) | |
| X | g.70027898C>A | CA413448259 | EDA | c.568C>A (p.Pro190Thr) c.172C>A (p.Pro58Thr) | gnomAD v4 |
| X | g.70027898C>G | CA413448260 | EDA | c.568C>G (p.Pro190Ala) c.172C>G (p.Pro58Ala) | |
| X | g.70027898C>T | CA413448261 | EDA | c.568C>T (p.Pro190Ser) c.172C>T (p.Pro58Ser) | gnomAD v4 |
| X | g.70027902del | CA2693978769 | EDA | c.572del (p.Pro191GlnfsTer?) c.176del (p.Pro59GlnfsTer?) | ClinVar dbSNP gnomAD v4 |
| X | g.70027899C>A | CA413448262 | EDA | c.569C>A (p.Pro190His) c.173C>A (p.Pro58His) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70027899C= | CA2435979560 | EDA | c.569C= (p.Pro190=) c.173C= (p.Pro58=) | |
| X | g.70027899C>G | CA413448263 | EDA | c.569C>G (p.Pro190Arg) c.173C>G (p.Pro58Arg) | |
| X | g.70027899C>T | CA413448264 | EDA | c.569C>T (p.Pro190Leu) c.173C>T (p.Pro58Leu) | |
| X | g.70027906_70027922del | CA2499226811 | EDA | c.576_592del (p.Pro193ThrfsTer?) c.180_196del (p.Pro61ThrfsTer?) | ClinVar dbSNP |
| X | g.70027900C>A | CA517012676 | EDA | c.570C>A (p.Pro190=) c.174C>A (p.Pro58=) | gnomAD v4 |
| X | g.70027900C= | CA2435979561 | EDA | c.570C= (p.Pro190=) c.174C= (p.Pro58=) | |
| X | g.70027900C>G | CA517012678 | EDA | c.570C>G (p.Pro190=) c.174C>G (p.Pro58=) | |
| X | g.70027900C>T | CA517012677 | EDA | c.570C>T (p.Pro190=) c.174C>T (p.Pro58=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 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=) | |
| 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 |