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.70030501A>C | CA517013122 | EDA | c.774A>C (p.Ser258=) c.378A>C (p.Ser126=) | gnomAD v4 |
| X | g.70030501A>G | CA517013123 | EDA | c.774A>G (p.Ser258=) c.378A>G (p.Ser126=) | |
| X | g.70030501A>T | CA517013125 | EDA | c.774A>T (p.Ser258=) c.378A>T (p.Ser126=) | |
| X | g.70030502G>A | CA413448701 | EDA | c.775G>A (p.Ala259Thr) c.379G>A (p.Ala127Thr) | |
| X | g.70030502G>C | CA413448703 | EDA | c.775G>C (p.Ala259Pro) c.379G>C (p.Ala127Pro) | |
| X | g.70030502G>T | CA413448702 | EDA | c.775G>T (p.Ala259Ser) c.379G>T (p.Ala127Ser) | gnomAD v4 |
| X | g.70030503C>A | CA10586172 | EDA | c.776C>A (p.Ala259Glu) c.380C>A (p.Ala127Glu) | ClinVar dbSNP |
| X | g.70030503C= | CA2435980416 | EDA | c.776C= (p.Ala259=) c.380C= (p.Ala127=) | |
| X | g.70030503C>G | CA413448704 | EDA | c.776C>G (p.Ala259Gly) c.380C>G (p.Ala127Gly) | |
| X | g.70030503C>T | CA413448705 | EDA | c.776C>T (p.Ala259Val) c.380C>T (p.Ala127Val) | dbSNP |
| X | g.70030504A= | CA2435980417 | EDA | c.777A= (p.Ala259=) c.381A= (p.Ala127=) | |
| X | g.70030504A>C | CA10439000 | EDA | c.777A>C (p.Ala259=) c.381A>C (p.Ala127=) | ClinVar dbSNP ExAC gnomAD v4 |
| X | g.70030504A>G | CA517013135 | EDA | c.777A>G (p.Ala259=) c.381A>G (p.Ala127=) | ClinVar dbSNP |
| X | g.70030504A>T | CA517013137 | EDA | c.777A>T (p.Ala259=) c.381A>T (p.Ala127=) | |
| X | g.70030505A>C | CA413448706 | EDA | c.778A>C (p.Ile260Leu) c.382A>C (p.Ile128Leu) | |
| X | g.70030505A>G | CA413448707 | EDA | c.778A>G (p.Ile260Val) c.382A>G (p.Ile128Val) | |
| X | g.70030505A>T | CA413448708 | EDA | c.778A>T (p.Ile260Phe) c.382A>T (p.Ile128Phe) | |
| X | g.70030506T>A | CA413448709 | EDA | c.779T>A (p.Ile260Asn) c.383T>A (p.Ile128Asn) | |
| X | g.70030506T>C | CA413448710 | EDA | c.779T>C (p.Ile260Thr) c.383T>C (p.Ile128Thr) | |
| X | g.70030506T>G | CA413448711 | EDA | c.779T>G (p.Ile260Ser) c.383T>G (p.Ile128Ser) | |
| X | g.70030507T>A | CA517013163 | EDA | c.780T>A (p.Ile260=) c.384T>A (p.Ile128=) | |
| X | g.70030507T>C | CA517013165 | EDA | c.780T>C (p.Ile260=) c.384T>C (p.Ile128=) | |
| X | g.70030507T>G | CA413448712 | EDA | c.780T>G (p.Ile260Met) c.384T>G (p.Ile128Met) | |
| X | g.70030508C>A | CA413448715 | EDA | c.781C>A (p.Gln261Lys) c.385C>A (p.Gln129Lys) | gnomAD v4 |
| X | g.70030508C>G | CA413448713 | EDA | c.781C>G (p.Gln261Glu) c.385C>G (p.Gln129Glu) | |
| X | g.70030508C>T | CA413448714 | EDA | c.781C>T (p.Gln261Ter) c.385C>T (p.Gln129Ter) | |
| X | g.70030509A>C | CA413448716 | EDA | c.782A>C (p.Gln261Pro) c.386A>C (p.Gln129Pro) | |
| X | g.70030509A>G | CA413448717 | EDA | c.782A>G (p.Gln261Arg) c.386A>G (p.Gln129Arg) | gnomAD v4 |
| X | g.70030509A>T | CA413448718 | EDA | c.782A>T (p.Gln261Leu) c.386A>T (p.Gln129Leu) | |
| X | g.70030510A>C | CA413448719 | EDA | c.783A>C (p.Gln261His) c.387A>C (p.Gln129His) | |
| X | g.70030510A>G | CA517013177 | EDA | c.783A>G (p.Gln261=) c.387A>G (p.Gln129=) | |
| X | g.70030510A>T | CA413448720 | EDA | c.783A>T (p.Gln261His) c.387A>T (p.Gln129His) | |
| X | g.70030511G>A | CA413448721 | EDA | c.784G>A (p.Val262Ile) c.388G>A (p.Val130Ile) | dbSNP gnomAD v2 |
| X | g.70030511G>C | CA413448722 | EDA | c.784G>C (p.Val262Leu) c.388G>C (p.Val130Leu) | |
| X | g.70030511G= | CA2435980418 | EDA | c.784G= (p.Val262=) c.388G= (p.Val130=) | |
| X | g.70030511G>T | CA413448723 | EDA | c.784G>T (p.Val262Phe) c.388G>T (p.Val130Phe) | gnomAD v4 |
| X | g.70030512T>A | CA413448724 | EDA | c.785T>A (p.Val262Asp) c.389T>A (p.Val130Asp) | |
| X | g.70030512T>C | CA10439001 | EDA | c.785T>C (p.Val262Ala) c.389T>C (p.Val130Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70030512T>G | CA413448725 | EDA | c.785T>G (p.Val262Gly) c.389T>G (p.Val130Gly) | |
| X | g.70030512T= | CA2435980419 | EDA | c.785T= (p.Val262=) c.389T= (p.Val130=) | |
| X | g.70030513C>A | CA517013184 | EDA | c.786C>A (p.Val262=) c.390C>A (p.Val130=) | gnomAD v4 |
| X | g.70030513C= | CA2435980420 | EDA | c.786C= (p.Val262=) c.390C= (p.Val130=) | |
| X | g.70030513C>G | CA517013186 | EDA | c.786C>G (p.Val262=) c.390C>G (p.Val130=) | |
| X | g.70030513C>T | CA517013188 | EDA | c.786C>T (p.Val262=) c.390C>T (p.Val130=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.70030514A>C | CA413448727 | EDA | c.787A>C (p.Lys263Gln) c.391A>C (p.Lys131Gln) | |
| X | g.70030514A>G | CA413448728 | EDA | c.787A>G (p.Lys263Glu) c.391A>G (p.Lys131Glu) | |
| X | g.70030514A>T | CA413448726 | EDA | c.787A>T (p.Lys263Ter) c.391A>T (p.Lys131Ter) | |
| X | g.70030515A>C | CA413448729 | EDA | c.788A>C (p.Lys263Thr) c.392A>C (p.Lys131Thr) | |
| X | g.70030515A>G | CA413448730 | EDA | c.788A>G (p.Lys263Arg) c.392A>G (p.Lys131Arg) | gnomAD v4 |
| X | g.70030515A>T | CA413448731 | EDA | c.788A>T (p.Lys263Met) c.392A>T (p.Lys131Met) | |
| X | g.70030516G>A | CA517013196 | EDA | c.789G>A (p.Lys263=) c.393G>A (p.Lys131=) | gnomAD v4 |
| X | g.70030516G>C | CA413448732 | EDA | c.789G>C (p.Lys263Asn) c.393G>C (p.Lys131Asn) | |
| X | g.70030516G>T | CA413448733 | EDA | c.789G>T (p.Lys263Asn) c.393G>T (p.Lys131Asn) | gnomAD v4 |
| X | g.70030517A= | CA2435980421 | EDA | c.790A= (p.Asn264=) c.394A= (p.Asn132=) | |
| X | g.70030517A>C | CA413448734 | EDA | c.790A>C (p.Asn264His) c.394A>C (p.Asn132His) | dbSNP gnomAD v4 |
| X | g.70030517A>G | CA330952375 | EDA | c.790A>G (p.Asn264Asp) c.394A>G (p.Asn132Asp) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.70030517A>T | CA413448735 | EDA | c.790A>T (p.Asn264Tyr) c.394A>T (p.Asn132Tyr) | |
| X | g.70030518A>C | CA413448736 | EDA | c.791A>C (p.Asn264Thr) c.395A>C (p.Asn132Thr) | |
| X | g.70030518A>G | CA413448737 | EDA | c.791A>G (p.Asn264Ser) c.395A>G (p.Asn132Ser) | gnomAD v4 |
| X | g.70030518A>T | CA413448738 | EDA | c.791A>T (p.Asn264Ile) c.395A>T (p.Asn132Ile) | |
| X | g.70030519T>A | CA413448739 | EDA | c.792T>A (p.Asn264Lys) c.396T>A (p.Asn132Lys) | |
| X | g.70030519T>C | CA517013207 | EDA | c.792T>C (p.Asn264=) c.396T>C (p.Asn132=) | |
| X | g.70030519T>G | CA413448740 | EDA | c.792T>G (p.Asn264Lys) c.396T>G (p.Asn132Lys) | |
| X | g.70030520G>A | CA133755 | EDA | c.793G>A (p.Asp265Asn) c.397G>A (p.Asp133Asn) c.793G>A (p.Gly265Ser) | ClinVar dbSNP |
| X | g.70030520G>C | CA413448742 | EDA | c.793G>C (p.Asp265His) c.397G>C (p.Asp133His) c.793G>C (p.Gly265Arg) | |
| X | g.70030520G= | CA2435980422 | EDA | c.793G= (p.Asp265=) c.397G= (p.Asp133=) c.793G= (p.Gly265=) | |
| X | g.70030520G>T | CA413448741 | EDA | c.793G>T (p.Asp265Tyr) c.397G>T (p.Asp133Tyr) c.793G>T (p.Gly265Cys) | |
| X | g.70030521G>A | CA413448743 | EDA | c.793+1G>A (n.793+1G>A) c.397+1G>A (n.397+1G>A) | gnomAD v4 |
| X | g.70030521G>C | CA413448744 | EDA | c.793+1G>C (n.793+1G>C) c.397+1G>C (n.397+1G>C) | |
| X | g.70030521G>T | CA413448745 | EDA | c.793+1G>T (n.793+1G>T) c.397+1G>T (n.397+1G>T) | |
| X | g.70030522T>A | CA413448746 | EDA | c.793+2T>A (n.793+2T>A) c.397+2T>A (n.397+2T>A) | |
| X | g.70030522T>C | CA413448747 | EDA | c.793+2T>C (n.793+2T>C) c.397+2T>C (n.397+2T>C) | |
| X | g.70030522T>G | CA413448748 | EDA | c.793+2T>G (n.793+2T>G) c.397+2T>G (n.397+2T>G) | |
| X | g.70030524A>T | CA2695234452 | EDA | c.793+4A>T (n.793+4A>T) c.397+4A>T (n.397+4A>T) | |
| X | g.70030525G>C | CA645619143 | EDA | c.793+5G>C (n.793+5G>C) c.397+5G>C (n.397+5G>C) | COSMIC |
| X | g.70030525G>T | CA2693979750 | EDA | c.793+5G>T (n.793+5G>T) c.397+5G>T (n.397+5G>T) | gnomAD v4 |
| X | g.70030527A>G | CA2693979752 | EDA | c.793+7A>G (n.793+7A>G) c.397+7A>G (n.397+7A>G) | gnomAD v4 |
| X | g.70030529C>A | CA2693979753 | EDA | c.793+9C>A (n.793+9C>A) c.397+9C>A (n.397+9C>A) | gnomAD v4 |
| X | g.70030530A= | CA2435980423 | EDA | c.793+10A= (n.793+10A=) c.397+10A= (n.397+10A=) | |
| X | g.70030530A>G | CA2435980424 | EDA | c.793+10A>G (n.793+10A>G) c.397+10A>G (n.397+10A>G) | ClinVar dbSNP gnomAD v4 |
| X | g.70030533del | CA2693979756 | EDA | c.793+13del (n.793+13del) c.397+13del (n.397+13del) | gnomAD v4 |
| X | g.70030534T>A | CA2693979759 | EDA | c.793+14T>A (n.793+14T>A) c.397+14T>A (n.397+14T>A) | gnomAD v4 |
| X | g.70030535A>G | CA2693979760 | EDA | c.793+15A>G (n.793+15A>G) c.397+15A>G (n.397+15A>G) | gnomAD v4 |
| X | g.70030536G>A | CA2564096614 | EDA | c.793+16G>A (n.793+16G>A) c.397+16G>A (n.397+16G>A) | |
| X | g.70030536G>C | CA2579632512 | EDA | c.793+16G>C (n.793+16G>C) c.397+16G>C (n.397+16G>C) | |
| X | g.70030536G>T | CA657722312 | EDA | c.793+16G>T (n.793+16G>T) c.397+16G>T (n.397+16G>T) | gnomAD v4 COSMIC |
| X | g.70030537G>A | CA2693979761 | EDA | c.793+17G>A (n.793+17G>A) c.397+17G>A (n.397+17G>A) | gnomAD v4 |
| X | g.70030538C>A | CA2693979763 | EDA | c.793+18C>A (n.793+18C>A) c.397+18C>A (n.397+18C>A) | gnomAD v4 |
| X | g.70030538_70030539delinsCT | CA2435980425 | EDA | c.793+18_793+19delinsCT (n.793+18_793+19delinsCT) c.397+18_397+19delinsCT (n.397+18_397+19delinsCT) | |
| X | g.70030539del | CA10439002 | EDA | c.793+19del (n.793+19del) c.397+19del (n.397+19del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70030539T>A | CA2693979768 | EDA | c.793+19T>A (n.793+19T>A) c.397+19T>A (n.397+19T>A) | gnomAD v4 |
| X | g.70030539T>C | CA517013219 | EDA | c.793+19T>C (n.793+19T>C) c.397+19T>C (n.397+19T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70030539T= | CA2435980426 | EDA | c.793+19T= (n.793+19T=) c.397+19T= (n.397+19T=) | |
| X | g.70030540C>A | CA2693979773 | EDA | c.793+20C>A (n.793+20C>A) c.397+20C>A (n.397+20C>A) | gnomAD v4 |
| X | g.70030540C= | CA2435980427 | EDA | c.793+20C= (n.793+20C=) c.397+20C= (n.397+20C=) | |
| X | g.70030540C>G | CA2739273561 | EDA | c.793+20C>G (n.793+20C>G) c.397+20C>G (n.397+20C>G) | ClinVar |
| X | g.70030540C>T | CA10439003 | EDA | c.793+20C>T (n.793+20C>T) c.397+20C>T (n.397+20C>T) | dbSNP ExAC gnomAD v2 |
| X | g.70030542C>A | CA2579632513 | EDA | c.793+22C>A (n.793+22C>A) c.397+22C>A (n.397+22C>A) | |
| X | g.70030543T>A | CA2579632514 | EDA | c.793+23T>A (n.793+23T>A) c.397+23T>A (n.397+23T>A) | |
| X | g.70030544C>A | CA2693979775 | EDA | c.793+24C>A (n.793+24C>A) c.397+24C>A (n.397+24C>A) | gnomAD v4 |
| X | g.70030544C= | CA2435980428 | EDA | c.793+24C= (n.793+24C=) c.397+24C= (n.397+24C=) | |
| X | g.70030544C>G | CA642456106 | EDA | c.793+24C>G (n.793+24C>G) c.397+24C>G (n.397+24C>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70030544C>T | CA2693979780 | EDA | c.793+24C>T (n.793+24C>T) c.397+24C>T (n.397+24C>T) | gnomAD v4 |
| X | g.70030545C>A | CA2579632515 | EDA | c.793+25C>A (n.793+25C>A) c.397+25C>A (n.397+25C>A) | gnomAD v4 |
| X | g.70030546C>A | CA2693979783 | EDA | c.793+26C>A (n.793+26C>A) c.397+26C>A (n.397+26C>A) | gnomAD v4 |
| X | g.70030549del | CA2579632516 | EDA | c.793+29del (n.793+29del) c.397+29del (n.397+29del) | |
| X | g.70030548A>G | CA2693979784 | EDA | c.793+28A>G (n.793+28A>G) c.397+28A>G (n.397+28A>G) | gnomAD v4 |
| X | g.70030550G>A | CA642456107 | EDA | c.793+30G>A (n.793+30G>A) c.397+30G>A (n.397+30G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.70030550G= | CA2435980429 | EDA | c.793+30G= (n.793+30G=) c.397+30G= (n.397+30G=) | |
| X | g.70030553G>A | CA10439004 | EDA | c.793+33G>A (n.793+33G>A) c.397+33G>A (n.397+33G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.70030553G= | CA2435980430 | EDA | c.793+33G= (n.793+33G=) c.397+33G= (n.397+33G=) | |
| X | g.70030554del | CA2579632517 | EDA | c.793+34del (n.793+34del) c.397+34del (n.397+34del) | |
| X | g.70030554A= | CA2435980431 | EDA | c.793+34A= (n.793+34A=) c.397+34A= (n.397+34A=) | |
| X | g.70030554A>C | CA10439005 | EDA | c.793+34A>C (n.793+34A>C) c.397+34A>C (n.397+34A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.70030554A>G | CA2693979791 | EDA | c.793+34A>G (n.793+34A>G) c.397+34A>G (n.397+34A>G) | gnomAD v4 |
| X | g.70030555G>A | CA2435980433 | EDA | c.793+35G>A (n.793+35G>A) c.397+35G>A (n.397+35G>A) | dbSNP gnomAD v4 |
| X | g.70030555G= | CA2435980432 | EDA | c.793+35G= (n.793+35G=) c.397+35G= (n.397+35G=) | |
| X | g.70030555G>T | CA2693979795 | EDA | c.793+35G>T (n.793+35G>T) c.397+35G>T (n.397+35G>T) | gnomAD v4 |
| X | g.70030556C>A | CA2693979796 | EDA | c.793+36C>A (n.793+36C>A) c.397+36C>A (n.397+36C>A) | gnomAD v4 |
| X | g.70030556C>T | CA2693979797 | EDA | c.793+36C>T (n.793+36C>T) c.397+36C>T (n.397+36C>T) | gnomAD v4 |
| X | g.70030557_70030588delinsTTCTCCCCTGCCTCCTCCCCAGCCTCCAAATA | CA2435980434 | EDA | c.793+37_793+68delinsTTCTCCCCTGCCTCCTCCCCAGCCTCCAAATA (n.793+37_793+68delinsTTCTCCCCTGCCTCCTCCCCAGCCTCCAAATA) c.397+37_397+68delinsTTCTCCCCTGCCTCCTCCCCAGCCTCCAAATA (n.397+37_397+68delinsTTCTCCCCTGCCTCCTCCCCAGCCTCCAAATA) | |
| X | g.70030558T>C | CA1134049856 | EDA | c.793+38T>C (n.793+38T>C) c.397+38T>C (n.397+38T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.70030558T= | CA2435980435 | EDA | c.793+38T= (n.793+38T=) c.397+38T= (n.397+38T=) | |
| X | g.70030558_70030588del | CA2435980436 | EDA | c.793+38_793+68del (n.793+38_793+68del) c.397+38_397+68del (n.397+38_397+68del) | dbSNP |
| X | g.70030559C>A | CA2693979799 | EDA | c.793+39C>A (n.793+39C>A) c.397+39C>A (n.397+39C>A) | gnomAD v4 |
| X | g.70030565_70030576del | CA2579632518 | EDA | c.793+45_793+56del (n.793+45_793+56del) c.397+45_397+56del (n.397+45_397+56del) | gnomAD v4 |
| X | g.70030561C>A | CA2693979802 | EDA | c.793+41C>A (n.793+41C>A) c.397+41C>A (n.397+41C>A) | gnomAD v4 |
| X | g.70030561C>T | CA2693979801 | EDA | c.793+41C>T (n.793+41C>T) c.397+41C>T (n.397+41C>T) | gnomAD v4 |
| X | g.70030564del | CA2693979803 | EDA | c.793+44del (n.793+44del) c.397+44del (n.397+44del) | gnomAD v4 |
| X | g.70030562C>A | CA2579632519 | EDA | c.793+42C>A (n.793+42C>A) c.397+42C>A (n.397+42C>A) | gnomAD v4 |
| X | g.70030563C>A | CA2693979806 | EDA | c.793+43C>A (n.793+43C>A) c.397+43C>A (n.397+43C>A) | gnomAD v4 |
| X | g.70030563C>T | CA2693979807 | EDA | c.793+43C>T (n.793+43C>T) c.397+43C>T (n.397+43C>T) | gnomAD v4 |
| X | g.70030564C>A | CA2693979808 | EDA | c.793+44C>A (n.793+44C>A) c.397+44C>A (n.397+44C>A) | gnomAD v4 |
| X | g.70030564C>T | CA2693979809 | EDA | c.793+44C>T (n.793+44C>T) c.397+44C>T (n.397+44C>T) | gnomAD v4 |
| X | g.70030565T>G | CA2435980438 | EDA | c.793+45T>G (n.793+45T>G) c.397+45T>G (n.397+45T>G) | dbSNP |
| X | g.70030565T= | CA2435980437 | EDA | c.793+45T= (n.793+45T=) c.397+45T= (n.397+45T=) | |
| X | g.70030566G>T | CA2693979812 | EDA | c.793+46G>T (n.793+46G>T) c.397+46G>T (n.397+46G>T) | gnomAD v4 |
| X | g.70030572_70030583del | CA2579632520 | EDA | c.793+52_793+63del (n.793+52_793+63del) c.397+52_397+63del (n.397+52_397+63del) | gnomAD v4 |
| X | g.70030567C>A | CA2693979815 | EDA | c.793+47C>A (n.793+47C>A) c.397+47C>A (n.397+47C>A) | gnomAD v4 |
| X | g.70030567C>T | CA2693979816 | EDA | c.793+47C>T (n.793+47C>T) c.397+47C>T (n.397+47C>T) | gnomAD v4 |
| X | g.70030568C>A | CA2579632521 | EDA | c.793+48C>A (n.793+48C>A) c.397+48C>A (n.397+48C>A) | gnomAD v4 |
| X | g.70030569T>G | CA10439006 | EDA | c.793+49T>G (n.793+49T>G) c.397+49T>G (n.397+49T>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.70030569T= | CA2435980439 | EDA | c.793+49T= (n.793+49T=) c.397+49T= (n.397+49T=) | |
| X | g.70030571C>A | CA2693979819 | EDA | c.793+51C>A (n.793+51C>A) c.397+51C>A (n.397+51C>A) | gnomAD v4 |
| X | g.70030572T>A | CA2821677382 | EDA | c.793+52T>A (n.793+52T>A) c.397+52T>A (n.397+52T>A) | |
| X | g.70030572T>C | CA2821677383 | EDA | c.793+52T>C (n.793+52T>C) c.397+52T>C (n.397+52T>C) | |
| X | g.70030573C>A | CA2693979820 | EDA | c.793+53C>A (n.793+53C>A) c.397+53C>A (n.397+53C>A) | gnomAD v4 |
| X | g.70030576del | CA2579632522 | EDA | c.793+56del (n.793+56del) c.397+56del (n.397+56del) | gnomAD v4 |
| X | g.70030575C>A | CA2579632523 | EDA | c.793+55C>A (n.793+55C>A) c.397+55C>A (n.397+55C>A) | gnomAD v4 |
| X | g.70030575C>G | CA2579632524 | EDA | c.793+55C>G (n.793+55C>G) c.397+55C>G (n.397+55C>G) | |
| X | g.70030576C>A | CA2579632525 | EDA | c.793+56C>A (n.793+56C>A) c.397+56C>A (n.397+56C>A) | gnomAD v4 |
| X | g.70030579C>A | CA2693979823 | EDA | c.793+59C>A (n.793+59C>A) c.397+59C>A (n.397+59C>A) | gnomAD v4 |
| X | g.70030579C>T | CA2693979824 | EDA | c.793+59C>T (n.793+59C>T) c.397+59C>T (n.397+59C>T) | gnomAD v4 |
| X | g.70030580C>A | CA2693979825 | EDA | c.793+60C>A (n.793+60C>A) c.397+60C>A (n.397+60C>A) | gnomAD v4 |
| X | g.70030581T>C | CA2693979827 | EDA | c.793+61T>C (n.793+61T>C) c.397+61T>C (n.397+61T>C) | gnomAD v4 |
| X | g.70030583C>A | CA2579632526 | EDA | c.793+63C>A (n.793+63C>A) c.397+63C>A (n.397+63C>A) | gnomAD v4 |
| X | g.70030584A>C | CA2693979829 | EDA | c.793+64A>C (n.793+64A>C) c.397+64A>C (n.397+64A>C) | gnomAD v4 |
| X | g.70030588_70030590del | CA2693979830 | EDA | c.793+68_793+70del (n.793+68_793+70del) c.397+68_397+70del (n.397+68_397+70del) | gnomAD v4 |
| X | g.70030587T>A | CA2693979831 | EDA | c.793+67T>A (n.793+67T>A) c.397+67T>A (n.397+67T>A) | gnomAD v4 |
| X | g.70030587T>C | CA2821677384 | EDA | c.793+67T>C (n.793+67T>C) c.397+67T>C (n.397+67T>C) | |
| X | g.70030588A= | CA2435980440 | EDA | c.793+68A= (n.793+68A=) c.397+68A= (n.397+68A=) | |
| X | g.70030588A>G | CA2435980441 | EDA | c.793+68A>G (n.793+68A>G) c.397+68A>G (n.397+68A>G) | dbSNP |
| X | g.70030588A>T | CA2579632527 | EDA | c.793+68A>T (n.793+68A>T) c.397+68A>T (n.397+68A>T) | |
| X | g.70030589del | CA2693979833 | EDA | c.793+69del (n.793+69del) c.397+69del (n.397+69del) | gnomAD v4 |
| X | g.70030589A>C | CA2693979834 | EDA | c.793+69A>C (n.793+69A>C) c.397+69A>C (n.397+69A>C) | gnomAD v4 |
| X | g.70030589_70030590del | CA2821677385 | EDA | c.793+69_793+70del (n.793+69_793+70del) c.397+69_397+70del (n.397+69_397+70del) | |
| X | g.70030590T>C | CA1134049866 | EDA | c.793+70T>C (n.793+70T>C) c.397+70T>C (n.397+70T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.70030590T>G | CA2435980443 | EDA | c.793+70T>G (n.793+70T>G) c.397+70T>G (n.397+70T>G) | dbSNP |
| X | g.70030590T= | CA2435980442 | EDA | c.793+70T= (n.793+70T=) c.397+70T= (n.397+70T=) | |
| X | g.70030591C= | CA2435980444 | EDA | c.793+71C= (n.793+71C=) c.397+71C= (n.397+71C=) | |
| X | g.70030591C>G | CA2435980445 | EDA | c.793+71C>G (n.793+71C>G) c.397+71C>G (n.397+71C>G) | dbSNP |
| X | g.70030592A>C | CA2579632528 | EDA | c.793+72A>C (n.793+72A>C) c.397+72A>C (n.397+72A>C) | gnomAD v4 |
| X | g.70030593C>T | CA2693979836 | EDA | c.793+73C>T (n.793+73C>T) c.397+73C>T (n.397+73C>T) | gnomAD v4 |
| X | g.70030594C>A | CA2579632529 | EDA | c.793+74C>A (n.793+74C>A) c.397+74C>A (n.397+74C>A) | |
| X | g.70030595C>A | CA2579632530 | EDA | c.793+75C>A (n.793+75C>A) c.397+75C>A (n.397+75C>A) | gnomAD v4 |
| X | g.70030596A>G | CA2693979838 | EDA | c.793+76A>G (n.793+76A>G) c.397+76A>G (n.397+76A>G) | gnomAD v4 |
| X | g.70030597G>T | CA2693979839 | EDA | c.793+77G>T (n.793+77G>T) c.397+77G>T (n.397+77G>T) | gnomAD v4 |
| X | g.70030598C>A | CA2693979840 | EDA | c.793+78C>A (n.793+78C>A) c.397+78C>A (n.397+78C>A) | gnomAD v4 |
| X | g.70030599C= | CA2435980446 | EDA | c.793+79C= (n.793+79C=) c.397+79C= (n.397+79C=) | |
| X | g.70030599C>G | CA877730026 | EDA | c.793+79C>G (n.793+79C>G) c.397+79C>G (n.397+79C>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.70030600T>G | CA2693979841 | EDA | c.793+80T>G (n.793+80T>G) c.397+80T>G (n.397+80T>G) | gnomAD v4 |
| X | g.70030600_70030601insGGG | CA2693979843 | EDA | c.793+80_793+81insGGG (n.793+80_793+81insGGG) c.397+80_397+81insGGG (n.397+80_397+81insGGG) | gnomAD v4 |
| X | g.70030601A>C | CA2693979844 | EDA | c.793+81A>C (n.793+81A>C) c.397+81A>C (n.397+81A>C) | gnomAD v4 |