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.154956914A= | CA2466845289 | F8 | c.1752+43T= (n.1752+43T=) c.*1628+43T= (n.*1628+43T=) c.1647+43T= (n.1647+43T=) | |
| X | g.154956914A>T | CA10568411 | F8 | c.1752+43T>A (n.1752+43T>A) c.*1628+43T>A (n.*1628+43T>A) c.1647+43T>A (n.1647+43T>A) | dbSNP ExAC gnomAD v4 |
| X | g.154956915C>T | CA2579744699 | F8 | c.1752+42G>A (n.1752+42G>A) c.*1628+42G>A (n.*1628+42G>A) c.1647+42G>A (n.1647+42G>A) | |
| X | g.154956916A>G | CA2695169157 | F8 | c.1752+41T>C (n.1752+41T>C) c.*1628+41T>C (n.*1628+41T>C) c.1647+41T>C (n.1647+41T>C) | gnomAD v4 |
| X | g.154956919G>T | CA2695169158 | F8 | c.1752+38C>A (n.1752+38C>A) c.*1628+38C>A (n.*1628+38C>A) c.1647+38C>A (n.1647+38C>A) | gnomAD v4 |
| X | g.154956920A>T | CA2579744700 | F8 | c.1752+37T>A (n.1752+37T>A) c.*1628+37T>A (n.*1628+37T>A) c.1647+37T>A (n.1647+37T>A) | |
| X | g.154956921G>C | CA10568412 | F8 | c.1752+36C>G (n.1752+36C>G) c.*1628+36C>G (n.*1628+36C>G) c.1647+36C>G (n.1647+36C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154956921G= | CA2466845290 | F8 | c.1752+36C= (n.1752+36C=) c.*1628+36C= (n.*1628+36C=) c.1647+36C= (n.1647+36C=) | |
| X | g.154956921G>T | CA2466845291 | F8 | c.1752+36C>A (n.1752+36C>A) c.*1628+36C>A (n.*1628+36C>A) c.1647+36C>A (n.1647+36C>A) | dbSNP gnomAD v4 |
| X | g.154956924T>C | CA2695169159 | F8 | c.1752+33A>G (n.1752+33A>G) c.*1628+33A>G (n.*1628+33A>G) c.1647+33A>G (n.1647+33A>G) | gnomAD v4 |
| X | g.154956926A>C | CA2695169160 | F8 | c.1752+31T>G (n.1752+31T>G) c.*1628+31T>G (n.*1628+31T>G) c.1647+31T>G (n.1647+31T>G) | gnomAD v4 |
| X | g.154956928A= | CA2466845292 | F8 | c.1752+29T= (n.1752+29T=) c.*1628+29T= (n.*1628+29T=) c.1647+29T= (n.1647+29T=) | |
| X | g.154956928A>G | CA645292863 | F8 | c.1752+29T>C (n.1752+29T>C) c.*1628+29T>C (n.*1628+29T>C) c.1647+29T>C (n.1647+29T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154956929C>G | CA2579744701 | F8 | c.1752+28G>C (n.1752+28G>C) c.*1628+28G>C (n.*1628+28G>C) c.1647+28G>C (n.1647+28G>C) | gnomAD v4 |
| X | g.154956930C>A | CA2695169161 | F8 | c.1752+27G>T (n.1752+27G>T) c.*1628+27G>T (n.*1628+27G>T) c.1647+27G>T (n.1647+27G>T) | gnomAD v4 |
| X | g.154956931C>A | CA645292864 | F8 | c.1752+26G>T (n.1752+26G>T) c.*1628+26G>T (n.*1628+26G>T) c.1647+26G>T (n.1647+26G>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154956931C= | CA2466845293 | F8 | c.1752+26G= (n.1752+26G=) c.*1628+26G= (n.*1628+26G=) c.1647+26G= (n.1647+26G=) | |
| X | g.154956933G>T | CA2695169162 | F8 | c.1752+24C>A (n.1752+24C>A) c.*1628+24C>A (n.*1628+24C>A) c.1647+24C>A (n.1647+24C>A) | gnomAD v4 |
| X | g.154956934C= | CA2466845294 | F8 | c.1752+23G= (n.1752+23G=) c.*1628+23G= (n.*1628+23G=) c.1647+23G= (n.1647+23G=) | |
| X | g.154956934C>T | CA10568413 | F8 | c.1752+23G>A (n.1752+23G>A) c.*1628+23G>A (n.*1628+23G>A) c.1647+23G>A (n.1647+23G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154956935A>G | CA2579744702 | F8 | c.1752+22T>C (n.1752+22T>C) c.*1628+22T>C (n.*1628+22T>C) c.1647+22T>C (n.1647+22T>C) | gnomAD v4 |
| X | g.154956936C= | CA2466845295 | F8 | c.1752+21G= (n.1752+21G=) c.*1628+21G= (n.*1628+21G=) c.1647+21G= (n.1647+21G=) | |
| X | g.154956936C>G | CA873353670 | F8 | c.1752+21G>C (n.1752+21G>C) c.*1628+21G>C (n.*1628+21G>C) c.1647+21G>C (n.1647+21G>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154956936C>T | CA873353671 | F8 | c.1752+21G>A (n.1752+21G>A) c.*1628+21G>A (n.*1628+21G>A) c.1647+21G>A (n.1647+21G>A) | dbSNP |
| X | g.154956937T>C | CA2579744703 | F8 | c.1752+20A>G (n.1752+20A>G) c.*1628+20A>G (n.*1628+20A>G) c.1647+20A>G (n.1647+20A>G) | |
| X | g.154956938del | CA2695169163 | F8 | c.1752+20del (n.1752+20del) c.*1628+20del (n.*1628+20del) c.1647+20del (n.1647+20del) | gnomAD v4 |
| X | g.154956938T>A | CA2695169164 | F8 | c.1752+19A>T (n.1752+19A>T) c.*1628+19A>T (n.*1628+19A>T) c.1647+19A>T (n.1647+19A>T) | gnomAD v4 |
| X | g.154956938T>C | CA2466845297 | F8 | c.1752+19A>G (n.1752+19A>G) c.*1628+19A>G (n.*1628+19A>G) c.1647+19A>G (n.1647+19A>G) | dbSNP gnomAD v4 |
| X | g.154956938T= | CA2466845296 | F8 | c.1752+19A= (n.1752+19A=) c.*1628+19A= (n.*1628+19A=) c.1647+19A= (n.1647+19A=) | |
| X | g.154956939G>A | CA2695169165 | F8 | c.1752+18C>T (n.1752+18C>T) c.*1628+18C>T (n.*1628+18C>T) c.1647+18C>T (n.1647+18C>T) | gnomAD v4 |
| X | g.154956939G>T | CA2695169166 | F8 | c.1752+18C>A (n.1752+18C>A) c.*1628+18C>A (n.*1628+18C>A) c.1647+18C>A (n.1647+18C>A) | gnomAD v4 |
| X | g.154956940G>A | CA2695169167 | F8 | c.1752+17C>T (n.1752+17C>T) c.*1628+17C>T (n.*1628+17C>T) c.1647+17C>T (n.1647+17C>T) | gnomAD v4 |
| X | g.154956940G>T | CA2695169168 | F8 | c.1752+17C>A (n.1752+17C>A) c.*1628+17C>A (n.*1628+17C>A) c.1647+17C>A (n.1647+17C>A) | gnomAD v4 |
| X | g.154956941A>G | CA2695169169 | F8 | c.1752+16T>C (n.1752+16T>C) c.*1628+16T>C (n.*1628+16T>C) c.1647+16T>C (n.1647+16T>C) | gnomAD v4 |
| X | g.154956943A>G | CA2695169170 | F8 | c.1752+14T>C (n.1752+14T>C) c.*1628+14T>C (n.*1628+14T>C) c.1647+14T>C (n.1647+14T>C) | gnomAD v4 |
| X | g.154956943A>T | CA2695169171 | F8 | c.1752+14T>A (n.1752+14T>A) c.*1628+14T>A (n.*1628+14T>A) c.1647+14T>A (n.1647+14T>A) | gnomAD v4 |
| X | g.154956944G>T | CA2695169172 | F8 | c.1752+13C>A (n.1752+13C>A) c.*1628+13C>A (n.*1628+13C>A) c.1647+13C>A (n.1647+13C>A) | gnomAD v4 |
| X | g.154956945G>A | CA2695169173 | F8 | c.1752+12C>T (n.1752+12C>T) c.*1628+12C>T (n.*1628+12C>T) c.1647+12C>T (n.1647+12C>T) | gnomAD v4 |
| X | g.154956945G>T | CA2695169174 | F8 | c.1752+12C>A (n.1752+12C>A) c.*1628+12C>A (n.*1628+12C>A) c.1647+12C>A (n.1647+12C>A) | gnomAD v4 |
| X | g.154956946C>A | CA658546464 | F8 | c.1752+11G>T (n.1752+11G>T) c.*1628+11G>T (n.*1628+11G>T) c.1647+11G>T (n.1647+11G>T) | COSMIC |
| X | g.154956946C= | CA2466845298 | F8 | c.1752+11G= (n.1752+11G=) c.*1628+11G= (n.*1628+11G=) c.1647+11G= (n.1647+11G=) | |
| X | g.154956946C>T | CA873353675 | F8 | c.1752+11G>A (n.1752+11G>A) c.*1628+11G>A (n.*1628+11G>A) c.1647+11G>A (n.1647+11G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154956948A= | CA2466845299 | F8 | c.1752+9T= (n.1752+9T=) c.*1628+9T= (n.*1628+9T=) c.1647+9T= (n.1647+9T=) | |
| X | g.154956948A>C | CA10568414 | F8 | c.1752+9T>G (n.1752+9T>G) c.*1628+9T>G (n.*1628+9T>G) c.1647+9T>G (n.1647+9T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154956949G>T | CA2579744704 | F8 | c.1752+8C>A (n.1752+8C>A) c.*1628+8C>A (n.*1628+8C>A) c.1647+8C>A (n.1647+8C>A) | |
| X | g.154956952C>A | CA2573159461 | F8 | c.1752+5G>T (n.1752+5G>T) c.*1628+5G>T (n.*1628+5G>T) c.1647+5G>T (n.1647+5G>T) | ClinVar dbSNP |
| X | g.154956952C>G | CA2695237245 | F8 | c.1752+5G>C (n.1752+5G>C) c.*1628+5G>C (n.*1628+5G>C) c.1647+5G>C (n.1647+5G>C) | |
| X | g.154956952C>T | CA2695237246 | F8 | c.1752+5G>A (n.1752+5G>A) c.*1628+5G>A (n.*1628+5G>A) c.1647+5G>A (n.1647+5G>A) | |
| X | g.154956952dup | CA2695237248 | F8 | c.1752+5dup (n.1752+5dup) c.*1628+5dup (n.*1628+5dup) c.1647+5dup (n.1647+5dup) | |
| X | g.154956953_154956954insAACCT | CA2695237247 | F8 | c.1752+5_1752+6insGTTAG (n.1752+5_1752+6insGTTAG) c.*1628+5_*1628+6insGTTAG (n.*1628+5_*1628+6insGTTAG) c.1647+5_1647+6insGTTAG (n.1647+5_1647+6insGTTAG) | |
| X | g.154956953T>A | CA913184898 | F8 | c.1752+4A>T (n.1752+4A>T) c.*1628+4A>T (n.*1628+4A>T) c.1647+4A>T (n.1647+4A>T) | |
| X | g.154956954dup | CA2695237249 | F8 | c.1752+3dup (n.1752+3dup) c.*1628+3dup (n.*1628+3dup) c.1647+3dup (n.1647+3dup) | |
| X | g.154956955A= | CA2466845300 | F8 | c.1752+2T= (n.1752+2T=) c.*1628+2T= (n.*1628+2T=) c.1647+2T= (n.1647+2T=) | |
| X | g.154956955A>C | CA414911595 | F8 | c.1752+2T>G (n.1752+2T>G) c.*1628+2T>G (n.*1628+2T>G) c.1647+2T>G (n.1647+2T>G) | |
| X | g.154956955A>G | CA414911596 | F8 | c.1752+2T>C (n.1752+2T>C) c.*1628+2T>C (n.*1628+2T>C) c.1647+2T>C (n.1647+2T>C) | dbSNP |
| X | g.154956955A>T | CA414911597 | F8 | c.1752+2T>A (n.1752+2T>A) c.*1628+2T>A (n.*1628+2T>A) c.1647+2T>A (n.1647+2T>A) | dbSNP |
| X | g.154956956C>A | CA414911598 | F8 | c.1752+1G>T (n.1752+1G>T) c.*1628+1G>T (n.*1628+1G>T) c.1647+1G>T (n.1647+1G>T) | |
| X | g.154956956C>G | CA414911599 | F8 | c.1752+1G>C (n.1752+1G>C) c.*1628+1G>C (n.*1628+1G>C) c.1647+1G>C (n.1647+1G>C) | |
| X | g.154956956C>T | CA414911600 | F8 | c.1752+1G>A (n.1752+1G>A) c.*1628+1G>A (n.*1628+1G>A) c.1647+1G>A (n.1647+1G>A) | |
| X | g.154956957_154956965del | CA2695237250 | F8 | c.1745_1752+1del c.*1621_*1628+1del c.1640_1647+1del | |
| X | g.154956957C>A | CA414911601 | F8 | c.1752G>T (p.Gln584His) c.*1628G>T (n.*1628G>T) c.1647G>T (p.Gln549His) | |
| X | g.154956957C>G | CA414911602 | F8 | c.1752G>C (p.Gln584His) c.*1628G>C (n.*1628G>C) c.1647G>C (p.Gln549His) | |
| X | g.154956957C>T | CA519358199 | F8 | c.1752G>A (p.Gln584=) c.*1628G>A (n.*1628G>A) c.1647G>A (p.Gln549=) | |
| X | g.154956958T>A | CA414911605 | F8 | c.1751A>T (p.Gln584Leu) c.*1627A>T (n.*1627A>T) c.1646A>T (p.Gln549Leu) | |
| X | g.154956958T>C | CA414911604 | F8 | c.1751A>G (p.Gln584Arg) c.*1627A>G (n.*1627A>G) c.1646A>G (p.Gln549Arg) | dbSNP |
| X | g.154956958T>G | CA414911603 | F8 | c.1751A>C (p.Gln584Pro) c.*1627A>C (n.*1627A>C) c.1646A>C (p.Gln549Pro) | |
| X | g.154956958T= | CA2466845301 | F8 | c.1751A= (p.Gln584=) c.*1627A= (n.*1627A=) c.1646A= (p.Gln549=) | |
| X | g.154956959G>A | CA414911606 | F8 | c.1750C>T (p.Gln584Ter) c.*1626C>T (n.*1626C>T) c.1645C>T (p.Gln549Ter) | |
| X | g.154956959G>C | CA414911607 | F8 | c.1750C>G (p.Gln584Glu) c.*1626C>G (n.*1626C>G) c.1645C>G (p.Gln549Glu) | |
| X | g.154956959G= | CA2466845302 | F8 | c.1750C= (p.Gln584=) c.*1626C= (n.*1626C=) c.1645C= (p.Gln549=) | |
| X | g.154956959G>T | CA255121 | F8 | c.1750C>A (p.Gln584Lys) c.*1626C>A (n.*1626C>A) c.1645C>A (p.Gln549Lys) | ClinVar dbSNP |
| X | g.154956960del | CA2580101838 | F8 | c.1750del (p.Gln584ArgfsTer2) c.*1626del (n.*1626del) c.1645del (p.Gln549ArgfsTer2) | ClinVar dbSNP |
| X | g.154956960G>A | CA519358211 | F8 | c.1749C>T (p.Asn583=) c.*1625C>T (n.*1625C>T) c.1644C>T (p.Asn548=) | |
| X | g.154956960G>C | CA414911608 | F8 | c.1749C>G (p.Asn583Lys) c.*1625C>G (n.*1625C>G) c.1644C>G (p.Asn548Lys) | |
| X | g.154956960G>T | CA414911609 | F8 | c.1749C>A (p.Asn583Lys) c.*1625C>A (n.*1625C>A) c.1644C>A (p.Asn548Lys) | |
| X | g.154956961T>A | CA414911610 | F8 | c.1748A>T (p.Asn583Ile) c.*1624A>T (n.*1624A>T) c.1643A>T (p.Asn548Ile) | |
| X | g.154956961T>C | CA10568415 | F8 | c.1748A>G (p.Asn583Ser) c.*1624A>G (n.*1624A>G) c.1643A>G (p.Asn548Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154956961T>G | CA414911611 | F8 | c.1748A>C (p.Asn583Thr) c.*1624A>C (n.*1624A>C) c.1643A>C (p.Asn548Thr) | |
| X | g.154956961T= | CA2466845303 | F8 | c.1748A= (p.Asn583=) c.*1624A= (n.*1624A=) c.1643A= (p.Asn548=) | |
| X | g.154956963del | CA2695237251 | F8 | c.1748del (p.Asn583ThrfsTer3) c.*1624del (n.*1624del) c.1643del (p.Asn548ThrfsTer3) | |
| X | g.154956962T>A | CA414911612 | F8 | c.1747A>T (p.Asn583Tyr) c.*1623A>T (n.*1623A>T) c.1642A>T (p.Asn548Tyr) | |
| X | g.154956962T>C | CA414911613 | F8 | c.1747A>G (p.Asn583Asp) c.*1623A>G (n.*1623A>G) c.1642A>G (p.Asn548Asp) | |
| X | g.154956962T>G | CA337332843 | F8 | c.1747A>C (p.Asn583His) c.*1623A>C (n.*1623A>C) c.1642A>C (p.Asn548His) | dbSNP |
| X | g.154956962T= | CA2466845304 | F8 | c.1747A= (p.Asn583=) c.*1623A= (n.*1623A=) c.1642A= (p.Asn548=) | |
| X | g.154956963T>A | CA519358217 | F8 | c.1746A>T (p.Gly582=) c.*1622A>T (n.*1622A>T) c.1641A>T (p.Gly547=) | |
| X | g.154956963T>C | CA519358215 | F8 | c.1746A>G (p.Gly582=) c.*1622A>G (n.*1622A>G) c.1641A>G (p.Gly547=) | |
| X | g.154956963T>G | CA519358214 | F8 | c.1746A>C (p.Gly582=) c.*1622A>C (n.*1622A>C) c.1641A>C (p.Gly547=) | |
| X | g.154956964C>A | CA414911615 | F8 | c.1745G>T (p.Gly582Val) c.*1621G>T (n.*1621G>T) c.1640G>T (p.Gly547Val) | |
| X | g.154956964C>G | CA414911616 | F8 | c.1745G>C (p.Gly582Ala) c.*1621G>C (n.*1621G>C) c.1640G>C (p.Gly547Ala) | |
| X | g.154956964C>T | CA414911614 | F8 | c.1745G>A (p.Gly582Glu) c.*1621G>A (n.*1621G>A) c.1640G>A (p.Gly547Glu) | COSMIC COSMIC |
| X | g.154956965C>A | CA414911617 | F8 | c.1744G>T (p.Gly582Ter) c.*1620G>T (n.*1620G>T) c.1639G>T (p.Gly547Ter) | |
| X | g.154956965C>G | CA414911618 | F8 | c.1744G>C (p.Gly582Arg) c.*1620G>C (n.*1620G>C) c.1639G>C (p.Gly547Arg) | |
| X | g.154956965C>T | CA414911619 | F8 | c.1744G>A (p.Gly582Arg) c.*1620G>A (n.*1620G>A) c.1639G>A (p.Gly547Arg) | |
| X | g.154956966T>A | CA414911620 | F8 | c.1743A>T (p.Arg581Ser) c.*1619A>T (n.*1619A>T) c.1638A>T (p.Arg546Ser) | |
| X | g.154956966T>C | CA519358226 | F8 | c.1743A>G (p.Arg581=) c.*1619A>G (n.*1619A>G) c.1638A>G (p.Arg546=) | |
| X | g.154956966T>G | CA414911621 | F8 | c.1743A>C (p.Arg581Ser) c.*1619A>C (n.*1619A>C) c.1638A>C (p.Arg546Ser) | |
| X | g.154956967C>A | CA414911622 | F8 | c.1742G>T (p.Arg581Ile) c.*1618G>T (n.*1618G>T) c.1637G>T (p.Arg546Ile) | COSMIC COSMIC |
| X | g.154956967C>G | CA414911623 | F8 | c.1742G>C (p.Arg581Thr) c.*1618G>C (n.*1618G>C) c.1637G>C (p.Arg546Thr) | gnomAD v4 |
| X | g.154956967C>T | CA414911624 | F8 | c.1742G>A (p.Arg581Lys) c.*1618G>A (n.*1618G>A) c.1637G>A (p.Arg546Lys) | |
| X | g.154956968T>A | CA414911625 | F8 | c.1741A>T (p.Arg581Ter) c.*1617A>T (n.*1617A>T) c.1636A>T (p.Arg546Ter) | |
| X | g.154956968T>C | CA414911626 | F8 | c.1741A>G (p.Arg581Gly) c.*1617A>G (n.*1617A>G) c.1636A>G (p.Arg546Gly) | |
| X | g.154956968T>G | CA519358235 | F8 | c.1741A>C (p.Arg581=) c.*1617A>C (n.*1617A>C) c.1636A>C (p.Arg546=) | |
| X | g.154956969_154956970del | CA2695237252 | F8 | c.1740_1741del (p.Gly582LysfsTer17) c.*1616_*1617del (n.*1616_*1617del) c.1635_1636del (p.Gly547LysfsTer17) | |
| X | g.154956969T>A | CA414911627 | F8 | c.1740A>T (p.Gln580His) c.*1616A>T (n.*1616A>T) c.1635A>T (p.Gln545His) | |
| X | g.154956969T>C | CA519358238 | F8 | c.1740A>G (p.Gln580=) c.*1616A>G (n.*1616A>G) c.1635A>G (p.Gln545=) | |
| X | g.154956969T>G | CA414911628 | F8 | c.1740A>C (p.Gln580His) c.*1616A>C (n.*1616A>C) c.1635A>C (p.Gln545His) | |
| X | g.154956970T>A | CA414911631 | F8 | c.1739A>T (p.Gln580Leu) c.*1615A>T (n.*1615A>T) c.1634A>T (p.Gln545Leu) | |
| X | g.154956970T>C | CA414911629 | F8 | c.1739A>G (p.Gln580Arg) c.*1615A>G (n.*1615A>G) c.1634A>G (p.Gln545Arg) | |
| X | g.154956970T>G | CA414911630 | F8 | c.1739A>C (p.Gln580Pro) c.*1615A>C (n.*1615A>C) c.1634A>C (p.Gln545Pro) | |
| X | g.154956971G>A | CA414911632 | F8 | c.1738C>T (p.Gln580Ter) c.*1614C>T (n.*1614C>T) c.1633C>T (p.Gln545Ter) | |
| X | g.154956971G>C | CA414911633 | F8 | c.1738C>G (p.Gln580Glu) c.*1614C>G (n.*1614C>G) c.1633C>G (p.Gln545Glu) | |
| X | g.154956971G>T | CA414911634 | F8 | c.1738C>A (p.Gln580Lys) c.*1614C>A (n.*1614C>A) c.1633C>A (p.Gln545Lys) | |
| X | g.154956972A>C | CA414911635 | F8 | c.1737T>G (p.Asp579Glu) c.*1613T>G (n.*1613T>G) c.1632T>G (p.Asp544Glu) | |
| X | g.154956972A>G | CA519358248 | F8 | c.1737T>C (p.Asp579=) c.*1613T>C (n.*1613T>C) c.1632T>C (p.Asp544=) | gnomAD v4 |
| X | g.154956972A>T | CA414911636 | F8 | c.1737T>A (p.Asp579Glu) c.*1613T>A (n.*1613T>A) c.1632T>A (p.Asp544Glu) | |
| X | g.154956973T>A | CA414911637 | F8 | c.1736A>T (p.Asp579Val) c.*1612A>T (n.*1612A>T) c.1631A>T (p.Asp544Val) | |
| X | g.154956973T>C | CA414911638 | F8 | c.1736A>G (p.Asp579Gly) c.*1612A>G (n.*1612A>G) c.1631A>G (p.Asp544Gly) | |
| X | g.154956973T>G | CA414911639 | F8 | c.1736A>C (p.Asp579Ala) c.*1612A>C (n.*1612A>C) c.1631A>C (p.Asp544Ala) | |
| X | g.154956974C>A | CA414911640 | F8 | c.1735G>T (p.Asp579Tyr) c.*1611G>T (n.*1611G>T) c.1630G>T (p.Asp544Tyr) | |
| X | g.154956974C>G | CA414911641 | F8 | c.1735G>C (p.Asp579His) c.*1611G>C (n.*1611G>C) c.1630G>C (p.Asp544His) | |
| X | g.154956974C>T | CA414911642 | F8 | c.1735G>A (p.Asp579Asn) c.*1611G>A (n.*1611G>A) c.1630G>A (p.Asp544Asn) | |
| X | g.154956975T>A | CA519358260 | F8 | c.1734A>T (p.Val578=) c.*1610A>T (n.*1610A>T) c.1629A>T (p.Val543=) | |
| X | g.154956975T>C | CA519358262 | F8 | c.1734A>G (p.Val578=) c.*1610A>G (n.*1610A>G) c.1629A>G (p.Val543=) | |
| X | g.154956975T>G | CA519358264 | F8 | c.1734A>C (p.Val578=) c.*1610A>C (n.*1610A>C) c.1629A>C (p.Val543=) | |
| X | g.154956975_154956977delinsTAC | CA2466845305 | F8 | c.1732_1734delinsGTA (p.Val578=) c.*1608_*1610delinsGTA (n.*1608_*1610delinsGTA) c.1627_1629delinsGTA (p.Val543=) | |
| X | g.154956976A>C | CA414911643 | F8 | c.1733T>G (p.Val578Gly) c.*1609T>G (n.*1609T>G) c.1628T>G (p.Val543Gly) | |
| X | g.154956976A>G | CA414911645 | F8 | c.1733T>C (p.Val578Ala) c.*1609T>C (n.*1609T>C) c.1628T>C (p.Val543Ala) | |
| X | g.154956976A>T | CA414911644 | F8 | c.1733T>A (p.Val578Glu) c.*1609T>A (n.*1609T>A) c.1628T>A (p.Val543Glu) | |
| X | g.154956977_154956978del | CA2466845306 | F8 | c.1732_1733del (p.Val578ArgfsTer21) c.*1608_*1609del (n.*1608_*1609del) c.1627_1628del (p.Val543ArgfsTer21) | dbSNP |
| X | g.154956977C>A | CA10568416 | F8 | c.1732G>T (p.Val578Leu) c.*1608G>T (n.*1608G>T) c.1627G>T (p.Val543Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154956977C= | CA2466845307 | F8 | c.1732G= (p.Val578=) c.*1608G= (n.*1608G=) c.1627G= (p.Val543=) | |
| X | g.154956977C>G | CA414911647 | F8 | c.1732G>C (p.Val578Leu) c.*1608G>C (n.*1608G>C) c.1627G>C (p.Val543Leu) | |
| X | g.154956977C>T | CA414911646 | F8 | c.1732G>A (p.Val578Ile) c.*1608G>A (n.*1608G>A) c.1627G>A (p.Val543Ile) | |
| X | g.154956978A>C | CA519358274 | F8 | c.1731T>G (p.Ser577=) c.*1607T>G (n.*1607T>G) c.1626T>G (p.Ser542=) | |
| X | g.154956978A>G | CA519358276 | F8 | c.1731T>C (p.Ser577=) c.*1607T>C (n.*1607T>C) c.1626T>C (p.Ser542=) | |
| X | g.154956978A>T | CA519358278 | F8 | c.1731T>A (p.Ser577=) c.*1607T>A (n.*1607T>A) c.1626T>A (p.Ser542=) | |
| X | g.154956979G>A | CA255120 | F8 | c.1730C>T (p.Ser577Phe) c.*1606C>T (n.*1606C>T) c.1625C>T (p.Ser542Phe) | ClinVar dbSNP COSMIC COSMIC |
| X | g.154956979G>C | CA414911648 | F8 | c.1730C>G (p.Ser577Cys) c.*1606C>G (n.*1606C>G) c.1625C>G (p.Ser542Cys) | |
| X | g.154956979G= | CA2466845308 | F8 | c.1730C= (p.Ser577=) c.*1606C= (n.*1606C=) c.1625C= (p.Ser542=) | |
| X | g.154956979G>T | CA414911649 | F8 | c.1730C>A (p.Ser577Tyr) c.*1606C>A (n.*1606C>A) c.1625C>A (p.Ser542Tyr) | COSMIC COSMIC |
| X | g.154956980A= | CA2466845309 | F8 | c.1729T= (p.Ser577=) c.*1605T= (n.*1605T=) c.1624T= (p.Ser542=) | |
| X | g.154956980A>C | CA414911650 | F8 | c.1729T>G (p.Ser577Ala) c.*1605T>G (n.*1605T>G) c.1624T>G (p.Ser542Ala) | |
| X | g.154956980A>G | CA255122 | F8 | c.1729T>C (p.Ser577Pro) c.*1605T>C (n.*1605T>C) c.1624T>C (p.Ser542Pro) | ClinVar dbSNP |
| X | g.154956980A>T | CA414911651 | F8 | c.1729T>A (p.Ser577Thr) c.*1605T>A (n.*1605T>A) c.1624T>A (p.Ser542Thr) | |
| X | g.154956981T>A | CA414911652 | F8 | c.1728A>T (p.Glu576Asp) c.*1604A>T (n.*1604A>T) c.1623A>T (p.Glu541Asp) | |
| X | g.154956981T>C | CA519358288 | F8 | c.1728A>G (p.Glu576=) c.*1604A>G (n.*1604A>G) c.1623A>G (p.Glu541=) | |
| X | g.154956981T>G | CA414911653 | F8 | c.1728A>C (p.Glu576Asp) c.*1604A>C (n.*1604A>C) c.1623A>C (p.Glu541Asp) | |
| X | g.154956982T>A | CA414911654 | F8 | c.1727A>T (p.Glu576Val) c.*1603A>T (n.*1603A>T) c.1622A>T (p.Glu541Val) | ClinVar |
| X | g.154956982T>C | CA414911655 | F8 | c.1727A>G (p.Glu576Gly) c.*1603A>G (n.*1603A>G) c.1622A>G (p.Glu541Gly) | |
| X | g.154956982T>G | CA414911656 | F8 | c.1727A>C (p.Glu576Ala) c.*1603A>C (n.*1603A>C) c.1622A>C (p.Glu541Ala) | |
| X | g.154956983C>A | CA255118 | F8 | c.1726G>T (p.Glu576Ter) c.*1602G>T (n.*1602G>T) c.1621G>T (p.Glu541Ter) | ClinVar dbSNP COSMIC COSMIC |
| X | g.154956983C= | CA2466845310 | F8 | c.1726G= (p.Glu576=) c.*1602G= (n.*1602G=) c.1621G= (p.Glu541=) | |
| X | g.154956983C>G | CA414911657 | F8 | c.1726G>C (p.Glu576Gln) c.*1602G>C (n.*1602G>C) c.1621G>C (p.Glu541Gln) | |
| X | g.154956983C>T | CA414911658 | F8 | c.1726G>A (p.Glu576Lys) c.*1602G>A (n.*1602G>A) c.1621G>A (p.Glu541Lys) | |
| X | g.154956984T>A | CA414911659 | F8 | c.1725A>T (p.Lys575Asn) c.*1601A>T (n.*1601A>T) c.1620A>T (p.Lys540Asn) | |
| X | g.154956984T>C | CA519358300 | F8 | c.1725A>G (p.Lys575=) c.*1601A>G (n.*1601A>G) c.1620A>G (p.Lys540=) | |
| X | g.154956984T>G | CA414911660 | F8 | c.1725A>C (p.Lys575Asn) c.*1601A>C (n.*1601A>C) c.1620A>C (p.Lys540Asn) | |
| X | g.154956985T>A | CA414911661 | F8 | c.1724A>T (p.Lys575Ile) c.*1600A>T (n.*1600A>T) c.1619A>T (p.Lys540Ile) | |
| X | g.154956985T>C | CA414911662 | F8 | c.1724A>G (p.Lys575Arg) c.*1600A>G (n.*1600A>G) c.1619A>G (p.Lys540Arg) | gnomAD v4 |
| X | g.154956985T>G | CA414911663 | F8 | c.1724A>C (p.Lys575Thr) c.*1600A>C (n.*1600A>C) c.1619A>C (p.Lys540Thr) | ClinVar dbSNP gnomAD v4 |
| X | g.154956985T= | CA2466845311 | F8 | c.1724A= (p.Lys575=) c.*1600A= (n.*1600A=) c.1619A= (p.Lys540=) | |
| X | g.154956986T>A | CA414911664 | F8 | c.1723A>T (p.Lys575Ter) c.*1599A>T (n.*1599A>T) c.1618A>T (p.Lys540Ter) | |
| X | g.154956986T>C | CA414911665 | F8 | c.1723A>G (p.Lys575Glu) c.*1599A>G (n.*1599A>G) c.1618A>G (p.Lys540Glu) | |
| X | g.154956986T>G | CA414911666 | F8 | c.1723A>C (p.Lys575Gln) c.*1599A>C (n.*1599A>C) c.1618A>C (p.Lys540Gln) | |
| X | g.154956987G>A | CA519358310 | F8 | c.1722C>T (p.Tyr574=) c.*1598C>T (n.*1598C>T) c.1617C>T (p.Tyr539=) | |
| X | g.154956987G>C | CA414911667 | F8 | c.1722C>G (p.Tyr574Ter) c.*1598C>G (n.*1598C>G) c.1617C>G (p.Tyr539Ter) | |
| X | g.154956987G>T | CA414911668 | F8 | c.1722C>A (p.Tyr574Ter) c.*1598C>A (n.*1598C>A) c.1617C>A (p.Tyr539Ter) | |
| X | g.154956988T>A | CA414911669 | F8 | c.1721A>T (p.Tyr574Phe) c.*1597A>T (n.*1597A>T) c.1616A>T (p.Tyr539Phe) | dbSNP |
| X | g.154956988T>C | CA414911670 | F8 | c.1721A>G (p.Tyr574Cys) c.*1597A>G (n.*1597A>G) c.1616A>G (p.Tyr539Cys) | dbSNP gnomAD v4 |
| X | g.154956988T>G | CA414911671 | F8 | c.1721A>C (p.Tyr574Ser) c.*1597A>C (n.*1597A>C) c.1616A>C (p.Tyr539Ser) | |
| X | g.154956988T= | CA2466845312 | F8 | c.1721A= (p.Tyr574=) c.*1597A= (n.*1597A=) c.1616A= (p.Tyr539=) | |
| X | g.154956989A= | CA2466845313 | F8 | c.1720T= (p.Tyr574=) c.*1596T= (n.*1596T=) c.1615T= (p.Tyr539=) | |
| X | g.154956989A>C | CA414911672 | F8 | c.1720T>G (p.Tyr574Asp) c.*1596T>G (n.*1596T>G) c.1615T>G (p.Tyr539Asp) | |
| X | g.154956989A>G | CA414911674 | F8 | c.1720T>C (p.Tyr574His) c.*1596T>C (n.*1596T>C) c.1615T>C (p.Tyr539His) | dbSNP gnomAD v4 |
| X | g.154956989A>T | CA414911673 | F8 | c.1720T>A (p.Tyr574Asn) c.*1596T>A (n.*1596T>A) c.1615T>A (p.Tyr539Asn) | |
| X | g.154956990G>A | CA519358321 | F8 | c.1719C>T (p.Cys573=) c.*1595C>T (n.*1595C>T) c.1614C>T (p.Cys538=) | |
| X | g.154956990G>C | CA414911675 | F8 | c.1719C>G (p.Cys573Trp) c.*1595C>G (n.*1595C>G) c.1614C>G (p.Cys538Trp) | |
| X | g.154956990G>T | CA414911676 | F8 | c.1719C>A (p.Cys573Ter) c.*1595C>A (n.*1595C>A) c.1614C>A (p.Cys538Ter) | |
| X | g.154956991C>A | CA414911677 | F8 | c.1718G>T (p.Cys573Phe) c.*1594G>T (n.*1594G>T) c.1613G>T (p.Cys538Phe) | COSMIC COSMIC |
| X | g.154956991C= | CA2466845314 | F8 | c.1718G= (p.Cys573=) c.*1594G= (n.*1594G=) c.1613G= (p.Cys538=) | |
| X | g.154956991C>G | CA414911678 | F8 | c.1718G>C (p.Cys573Ser) c.*1594G>C (n.*1594G>C) c.1613G>C (p.Cys538Ser) | |
| X | g.154956991C>T | CA10568417 | F8 | c.1718G>A (p.Cys573Tyr) c.*1594G>A (n.*1594G>A) c.1613G>A (p.Cys538Tyr) | dbSNP ExAC |
| X | g.154956992A= | CA2466845315 | F8 | c.1717T= (p.Cys573=) c.*1593T= (n.*1593T=) c.1612T= (p.Cys538=) | |
| X | g.154956992A>C | CA414911679 | F8 | c.1717T>G (p.Cys573Gly) c.*1593T>G (n.*1593T>G) c.1612T>G (p.Cys538Gly) | |
| X | g.154956992A>G | CA414911680 | F8 | c.1717T>C (p.Cys573Arg) c.*1593T>C (n.*1593T>C) c.1612T>C (p.Cys538Arg) | dbSNP |
| X | g.154956992A>T | CA414911681 | F8 | c.1717T>A (p.Cys573Ser) c.*1593T>A (n.*1593T>A) c.1612T>A (p.Cys538Ser) | |
| X | g.154956993G>A | CA519358330 | F8 | c.1716C>T (p.Ile572=) c.*1592C>T (n.*1592C>T) c.1611C>T (p.Ile537=) | |
| X | g.154956993G>C | CA414911682 | F8 | c.1716C>G (p.Ile572Met) c.*1592C>G (n.*1592C>G) c.1611C>G (p.Ile537Met) | |
| X | g.154956993G>T | CA519358332 | F8 | c.1716C>A (p.Ile572=) c.*1592C>A (n.*1592C>A) c.1611C>A (p.Ile537=) | |
| X | g.154956994del | CA2695237253 | F8 | c.1715del (p.Ile572ThrfsTer7) c.*1591del (n.*1591del) c.1610del (p.Ile537ThrfsTer7) | |
| X | g.154956994A>C | CA414911683 | F8 | c.1715T>G (p.Ile572Ser) c.*1591T>G (n.*1591T>G) c.1610T>G (p.Ile537Ser) | |
| X | g.154956994A>G | CA414911684 | F8 | c.1715T>C (p.Ile572Thr) c.*1591T>C (n.*1591T>C) c.1610T>C (p.Ile537Thr) | |
| X | g.154956994A>T | CA414911685 | F8 | c.1715T>A (p.Ile572Asn) c.*1591T>A (n.*1591T>A) c.1610T>A (p.Ile537Asn) | |
| X | g.154956995T>A | CA414911686 | F8 | c.1714A>T (p.Ile572Phe) c.*1590A>T (n.*1590A>T) c.1609A>T (p.Ile537Phe) | |
| X | g.154956995T>C | CA414911688 | F8 | c.1714A>G (p.Ile572Val) c.*1590A>G (n.*1590A>G) c.1609A>G (p.Ile537Val) | |
| X | g.154956995T>G | CA414911687 | F8 | c.1714A>C (p.Ile572Leu) c.*1590A>C (n.*1590A>C) c.1609A>C (p.Ile537Leu) | |
| X | g.154956995_154956998delinsTGAG | CA2466845316 | F8 | c.1711_1714delinsCTCA (p.Leu571=) c.*1587_*1590delinsCTCA (n.*1587_*1590delinsCTCA) c.1606_1609delinsCTCA (p.Leu536=) | |
| X | g.154956996G>A | CA519358348 | F8 | c.1713C>T (p.Leu571=) c.*1589C>T (n.*1589C>T) c.1608C>T (p.Leu536=) | gnomAD v4 |
| X | g.154956996G>C | CA519358343 | F8 | c.1713C>G (p.Leu571=) c.*1589C>G (n.*1589C>G) c.1608C>G (p.Leu536=) | |
| X | g.154956996G>T | CA519358344 | F8 | c.1713C>A (p.Leu571=) c.*1589C>A (n.*1589C>A) c.1608C>A (p.Leu536=) | |
| X | g.154956999_154957001del | CA2466845317 | F8 | c.1711_1713del (p.Leu571del) c.*1587_*1589del (n.*1587_*1589del) c.1606_1608del (p.Leu536del) | dbSNP |
| X | g.154956997A>C | CA414911689 | F8 | c.1712T>G (p.Leu571Arg) c.*1588T>G (n.*1588T>G) c.1607T>G (p.Leu536Arg) | ClinVar |
| X | g.154956997A>G | CA414911690 | F8 | c.1712T>C (p.Leu571Pro) c.*1588T>C (n.*1588T>C) c.1607T>C (p.Leu536Pro) | |
| X | g.154956997A>T | CA414911691 | F8 | c.1712T>A (p.Leu571His) c.*1588T>A (n.*1588T>A) c.1607T>A (p.Leu536His) | |
| X | g.154956998G>A | CA414911692 | F8 | c.1711C>T (p.Leu571Phe) c.*1587C>T (n.*1587C>T) c.1606C>T (p.Leu536Phe) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154956998G>C | CA414911693 | F8 | c.1711C>G (p.Leu571Val) c.*1587C>G (n.*1587C>G) c.1606C>G (p.Leu536Val) | |
| X | g.154956998G= | CA2466845318 | F8 | c.1711C= (p.Leu571=) c.*1587C= (n.*1587C=) c.1606C= (p.Leu536=) | |
| X | g.154956998G>T | CA414911694 | F8 | c.1711C>A (p.Leu571Ile) c.*1587C>A (n.*1587C>A) c.1606C>A (p.Leu536Ile) | |
| X | g.154956999G>A | CA519358358 | F8 | c.1710C>T (p.Leu570=) c.*1586C>T (n.*1586C>T) c.1605C>T (p.Leu535=) | |
| X | g.154956999G>C | CA519358359 | F8 | c.1710C>G (p.Leu570=) c.*1586C>G (n.*1586C>G) c.1605C>G (p.Leu535=) | |
| X | g.154956999G>T | CA519358360 | F8 | c.1710C>A (p.Leu570=) c.*1586C>A (n.*1586C>A) c.1605C>A (p.Leu535=) | |
| X | g.154957000A>C | CA414911695 | F8 | c.1709T>G (p.Leu570Arg) c.*1585T>G (n.*1585T>G) c.1604T>G (p.Leu535Arg) | |
| X | g.154957000A>G | CA414911696 | F8 | c.1709T>C (p.Leu570Pro) c.*1585T>C (n.*1585T>C) c.1604T>C (p.Leu535Pro) | |
| X | g.154957000A>T | CA414911697 | F8 | c.1709T>A (p.Leu570His) c.*1585T>A (n.*1585T>A) c.1604T>A (p.Leu535His) | |
| X | g.154957001G>A | CA414911700 | F8 | c.1708C>T (p.Leu570Phe) c.*1584C>T (n.*1584C>T) c.1603C>T (p.Leu535Phe) | |
| X | g.154957001G>C | CA414911699 | F8 | c.1708C>G (p.Leu570Val) c.*1584C>G (n.*1584C>G) c.1603C>G (p.Leu535Val) | |
| X | g.154957001G>T | CA414911698 | F8 | c.1708C>A (p.Leu570Ile) c.*1584C>A (n.*1584C>A) c.1603C>A (p.Leu535Ile) | |
| X | g.154957002A>C | CA519358365 | F8 | c.1707T>G (p.Pro569=) c.*1583T>G (n.*1583T>G) c.1602T>G (p.Pro534=) | |
| X | g.154957002A>G | CA519358368 | F8 | c.1707T>C (p.Pro569=) c.*1583T>C (n.*1583T>C) c.1602T>C (p.Pro534=) | |
| X | g.154957002A>T | CA519358366 | F8 | c.1707T>A (p.Pro569=) c.*1583T>A (n.*1583T>A) c.1602T>A (p.Pro534=) | |
| X | g.154957003G>A | CA414911702 | F8 | c.1706C>T (p.Pro569Leu) c.*1582C>T (n.*1582C>T) c.1601C>T (p.Pro534Leu) | |
| X | g.154957003G>C | CA414911701 | F8 | c.1706C>G (p.Pro569Arg) c.*1582C>G (n.*1582C>G) c.1601C>G (p.Pro534Arg) | |
| X | g.154957003G>T | CA414911703 | F8 | c.1706C>A (p.Pro569His) c.*1582C>A (n.*1582C>A) c.1601C>A (p.Pro534His) | |
| X | g.154957004G>A | CA414911704 | F8 | c.1705C>T (p.Pro569Ser) c.*1581C>T (n.*1581C>T) c.1600C>T (p.Pro534Ser) | gnomAD v4 |
| X | g.154957004G>C | CA414911705 | F8 | c.1705C>G (p.Pro569Ala) c.*1581C>G (n.*1581C>G) c.1600C>G (p.Pro534Ala) | |
| X | g.154957004G>T | CA414911706 | F8 | c.1705C>A (p.Pro569Thr) c.*1581C>A (n.*1581C>A) c.1600C>A (p.Pro534Thr) | |
| X | g.154957005G>A | CA10568418 | F8 | c.1704C>T (p.Gly568=) c.*1580C>T (n.*1580C>T) c.1599C>T (p.Gly533=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154957005G>C | CA519358390 | F8 | c.1704C>G (p.Gly568=) c.*1580C>G (n.*1580C>G) c.1599C>G (p.Gly533=) | |
| X | g.154957005G= | CA2466845319 | F8 | c.1704C= (p.Gly568=) c.*1580C= (n.*1580C=) c.1599C= (p.Gly533=) | |
| X | g.154957005G>T | CA519358392 | F8 | c.1704C>A (p.Gly568=) c.*1580C>A (n.*1580C>A) c.1599C>A (p.Gly533=) | dbSNP COSMIC COSMIC |
| X | g.154957006C>A | CA414911707 | F8 | c.1703G>T (p.Gly568Val) c.*1579G>T (n.*1579G>T) c.1598G>T (p.Gly533Val) | |
| X | g.154957006C= | CA2466845320 | F8 | c.1703G= (p.Gly568=) c.*1579G= (n.*1579G=) c.1598G= (p.Gly533=) | |
| X | g.154957006C>G | CA414911708 | F8 | c.1703G>C (p.Gly568Ala) c.*1579G>C (n.*1579G>C) c.1598G>C (p.Gly533Ala) | |
| X | g.154957006C>T | CA414911709 | F8 | c.1703G>A (p.Gly568Asp) c.*1579G>A (n.*1579G>A) c.1598G>A (p.Gly533Asp) | dbSNP |
| X | g.154957007del | CA2695237254 | F8 | c.1703del (p.Gly568AlafsTer11) c.*1579del (n.*1579del) c.1598del (p.Gly533AlafsTer11) | |
| X | g.154957007C>A | CA414911710 | F8 | c.1702G>T (p.Gly568Cys) c.*1578G>T (n.*1578G>T) c.1597G>T (p.Gly533Cys) | |
| X | g.154957007C>G | CA414911711 | F8 | c.1702G>C (p.Gly568Arg) c.*1578G>C (n.*1578G>C) c.1597G>C (p.Gly533Arg) | |
| X | g.154957007C>T | CA414911712 | F8 | c.1702G>A (p.Gly568Ser) c.*1578G>A (n.*1578G>A) c.1597G>A (p.Gly533Ser) | |
| X | g.154957008A>C | CA414911713 | F8 | c.1701T>G (p.Ile567Met) c.*1577T>G (n.*1577T>G) c.1596T>G (p.Ile532Met) | |
| X | g.154957008A>G | CA519358404 | F8 | c.1701T>C (p.Ile567=) c.*1577T>C (n.*1577T>C) c.1596T>C (p.Ile532=) | gnomAD v4 |
| X | g.154957008A>T | CA519358402 | F8 | c.1701T>A (p.Ile567=) c.*1577T>A (n.*1577T>A) c.1596T>A (p.Ile532=) | |
| X | g.154957009del | CA915940891 | F8 | c.1701del (p.Ile567MetfsTer12) c.*1577del (n.*1577del) c.1596del (p.Ile532MetfsTer12) | ClinVar |
| X | g.154957009A= | CA2466845321 | F8 | c.1700T= (p.Ile567=) c.*1576T= (n.*1576T=) c.1595T= (p.Ile532=) | |
| X | g.154957009A>C | CA414911715 | F8 | c.1700T>G (p.Ile567Ser) c.*1576T>G (n.*1576T>G) c.1595T>G (p.Ile532Ser) | |
| X | g.154957009A>G | CA10568419 | F8 | c.1700T>C (p.Ile567Thr) c.*1576T>C (n.*1576T>C) c.1595T>C (p.Ile532Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154957009A>T | CA414911714 | F8 | c.1700T>A (p.Ile567Asn) c.*1576T>A (n.*1576T>A) c.1595T>A (p.Ile532Asn) | |
| X | g.154957010T>A | CA414911716 | F8 | c.1699A>T (p.Ile567Phe) c.*1575A>T (n.*1575A>T) c.1594A>T (p.Ile532Phe) | |
| X | g.154957010T>C | CA414911717 | F8 | c.1699A>G (p.Ile567Val) c.*1575A>G (n.*1575A>G) c.1594A>G (p.Ile532Val) | |
| X | g.154957010T>G | CA414911718 | F8 | c.1699A>C (p.Ile567Leu) c.*1575A>C (n.*1575A>C) c.1594A>C (p.Ile532Leu) | |
| X | g.154957011G>A | CA10568420 | F8 | c.1698C>T (p.Leu566=) c.*1574C>T (n.*1574C>T) c.1593C>T (p.Leu531=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154957011G>C | CA519358414 | F8 | c.1698C>G (p.Leu566=) c.*1574C>G (n.*1574C>G) c.1593C>G (p.Leu531=) | |
| X | g.154957011G= | CA2466845322 | F8 | c.1698C= (p.Leu566=) c.*1574C= (n.*1574C=) c.1593C= (p.Leu531=) | |
| X | g.154957011G>T | CA10568421 | F8 | c.1698C>A (p.Leu566=) c.*1574C>A (n.*1574C>A) c.1593C>A (p.Leu531=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154957012A= | CA2466845323 | F8 | c.1697T= (p.Leu566=) c.*1573T= (n.*1573T=) c.1592T= (p.Leu531=) | |
| X | g.154957012A>C | CA414911719 | F8 | c.1697T>G (p.Leu566Arg) c.*1573T>G (n.*1573T>G) c.1592T>G (p.Leu531Arg) | dbSNP |
| X | g.154957012A>G | CA414911720 | F8 | c.1697T>C (p.Leu566Pro) c.*1573T>C (n.*1573T>C) c.1592T>C (p.Leu531Pro) | |
| X | g.154957012A>T | CA414911721 | F8 | c.1697T>A (p.Leu566His) c.*1573T>A (n.*1573T>A) c.1592T>A (p.Leu531His) | |
| X | g.154957013G>A | CA414911722 | F8 | c.1696C>T (p.Leu566Phe) c.*1572C>T (n.*1572C>T) c.1591C>T (p.Leu531Phe) | ClinVar dbSNP |
| X | g.154957013G>C | CA414911724 | F8 | c.1696C>G (p.Leu566Val) c.*1572C>G (n.*1572C>G) c.1591C>G (p.Leu531Val) | |
| X | g.154957013G>T | CA414911725 | F8 | c.1696C>A (p.Leu566Ile) c.*1572C>A (n.*1572C>A) c.1591C>A (p.Leu531Ile) | |
| X | g.154957014T>A | CA519358422 | F8 | c.1695A>T (p.Gly565=) c.*1571A>T (n.*1571A>T) c.1590A>T (p.Gly530=) | |
| X | g.154957014T>C | CA519358424 | F8 | c.1695A>G (p.Gly565=) c.*1571A>G (n.*1571A>G) c.1590A>G (p.Gly530=) | |
| X | g.154957014T>G | CA519358426 | F8 | c.1695A>C (p.Gly565=) c.*1571A>C (n.*1571A>C) c.1590A>C (p.Gly530=) |