| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154860490A>C | CA414903460 | F8 | c.6842T>G (p.Ile2281Ser) c.575T>G (p.Ile192Ser) c.437T>G (p.Ile146Ser) c.6737T>G (p.Ile2246Ser) | |
| X | g.154860490A>G | CA414903462 | F8 | c.6842T>C (p.Ile2281Thr) c.575T>C (p.Ile192Thr) c.437T>C (p.Ile146Thr) c.6737T>C (p.Ile2246Thr) | |
| X | g.154860490A>T | CA414903468 | F8 | c.6842T>A (p.Ile2281Asn) c.575T>A (p.Ile192Asn) c.437T>A (p.Ile146Asn) c.6737T>A (p.Ile2246Asn) | |
| X | g.154860491T>A | CA414903479 | F8 | c.6841A>T (p.Ile2281Phe) c.574A>T (p.Ile192Phe) c.436A>T (p.Ile146Phe) c.6736A>T (p.Ile2246Phe) | |
| X | g.154860491T>C | CA414903482 | F8 | c.6841A>G (p.Ile2281Val) c.574A>G (p.Ile192Val) c.436A>G (p.Ile146Val) c.6736A>G (p.Ile2246Val) | |
| X | g.154860491T>G | CA414903488 | F8 | c.6841A>C (p.Ile2281Leu) c.574A>C (p.Ile192Leu) c.436A>C (p.Ile146Leu) c.6736A>C (p.Ile2246Leu) | |
| X | g.154860492G>A | CA519356116 | F8 | c.6840C>T (p.Leu2280=) c.573C>T (p.Leu191=) c.435C>T (p.Leu145=) c.6735C>T (p.Leu2245=) | |
| X | g.154860492G>C | CA519356118 | F8 | c.6840C>G (p.Leu2280=) c.573C>G (p.Leu191=) c.435C>G (p.Leu145=) c.6735C>G (p.Leu2245=) | |
| X | g.154860492G>T | CA519356119 | F8 | c.6840C>A (p.Leu2280=) c.573C>A (p.Leu191=) c.435C>A (p.Leu145=) c.6735C>A (p.Leu2245=) | |
| X | g.154860493A>C | CA414903491 | F8 | c.6839T>G (p.Leu2280Arg) c.572T>G (p.Leu191Arg) c.434T>G (p.Leu145Arg) c.6734T>G (p.Leu2245Arg) | |
| X | g.154860493A>G | CA414903492 | F8 | c.6839T>C (p.Leu2280Pro) c.572T>C (p.Leu191Pro) c.434T>C (p.Leu145Pro) c.6734T>C (p.Leu2245Pro) | |
| X | g.154860493A>T | CA414903493 | F8 | c.6839T>A (p.Leu2280His) c.572T>A (p.Leu191His) c.434T>A (p.Leu145His) c.6734T>A (p.Leu2245His) | |
| X | g.154860494G>A | CA414903496 | F8 | c.6838C>T (p.Leu2280Phe) c.571C>T (p.Leu191Phe) c.433C>T (p.Leu145Phe) c.6733C>T (p.Leu2245Phe) | dbSNP |
| X | g.154860494G>C | CA414903499 | F8 | c.6838C>G (p.Leu2280Val) c.571C>G (p.Leu191Val) c.433C>G (p.Leu145Val) c.6733C>G (p.Leu2245Val) | |
| X | g.154860494G>T | CA414903502 | F8 | c.6838C>A (p.Leu2280Ile) c.571C>A (p.Leu191Ile) c.433C>A (p.Leu145Ile) c.6733C>A (p.Leu2245Ile) | |
| X | g.154860495G>A | CA519356123 | F8 | c.6837C>T (p.Phe2279=) c.570C>T (p.Phe190=) c.432C>T (p.Phe144=) c.6732C>T (p.Phe2244=) | |
| X | g.154860495G>C | CA414903506 | F8 | c.6837C>G (p.Phe2279Leu) c.570C>G (p.Phe190Leu) c.432C>G (p.Phe144Leu) c.6732C>G (p.Phe2244Leu) | |
| X | g.154860495G= | CA2466814992 | F8 | c.6837C= (p.Phe2279=) c.570C= (p.Phe190=) c.432C= (p.Phe144=) c.6732C= (p.Phe2244=) | |
| X | g.154860495G>T | CA414903509 | F8 | c.6837C>A (p.Phe2279Leu) c.570C>A (p.Phe190Leu) c.432C>A (p.Phe144Leu) c.6732C>A (p.Phe2244Leu) | dbSNP |
| X | g.154860496A>C | CA414903520 | F8 | c.6836T>G (p.Phe2279Cys) c.569T>G (p.Phe190Cys) c.431T>G (p.Phe144Cys) c.6731T>G (p.Phe2244Cys) | |
| X | g.154860496A>G | CA414903521 | F8 | c.6836T>C (p.Phe2279Ser) c.569T>C (p.Phe190Ser) c.431T>C (p.Phe144Ser) c.6731T>C (p.Phe2244Ser) | |
| X | g.154860496A>T | CA414903522 | F8 | c.6836T>A (p.Phe2279Tyr) c.569T>A (p.Phe190Tyr) c.431T>A (p.Phe144Tyr) c.6731T>A (p.Phe2244Tyr) | |
| X | g.154860497A= | CA2466814993 | F8 | c.6835T= (p.Phe2279=) c.568T= (p.Phe190=) c.430T= (p.Phe144=) c.6730T= (p.Phe2244=) | |
| X | g.154860497A>C | CA414903524 | F8 | c.6835T>G (p.Phe2279Val) c.568T>G (p.Phe190Val) c.430T>G (p.Phe144Val) c.6730T>G (p.Phe2244Val) | |
| X | g.154860497A>G | CA414903528 | F8 | c.6835T>C (p.Phe2279Leu) c.568T>C (p.Phe190Leu) c.430T>C (p.Phe144Leu) c.6730T>C (p.Phe2244Leu) | |
| X | g.154860497A>T | CA10567754 | F8 | c.6835T>A (p.Phe2279Ile) c.568T>A (p.Phe190Ile) c.430T>A (p.Phe144Ile) c.6730T>A (p.Phe2244Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154860498C>A | CA414903540 | F8 | c.6834G>T (p.Glu2278Asp) c.567G>T (p.Glu189Asp) c.429G>T (p.Glu143Asp) c.6729G>T (p.Glu2243Asp) | ClinVar dbSNP |
| X | g.154860498C= | CA2466814994 | F8 | c.6834G= (p.Glu2278=) c.567G= (p.Glu189=) c.429G= (p.Glu143=) c.6729G= (p.Glu2243=) | |
| X | g.154860498C>G | CA414903543 | F8 | c.6834G>C (p.Glu2278Asp) c.567G>C (p.Glu189Asp) c.429G>C (p.Glu143Asp) c.6729G>C (p.Glu2243Asp) | |
| X | g.154860498C>T | CA519356126 | F8 | c.6834G>A (p.Glu2278=) c.567G>A (p.Glu189=) c.429G>A (p.Glu143=) c.6729G>A (p.Glu2243=) | dbSNP gnomAD v4 |
| X | g.154860499T>A | CA414903551 | F8 | c.6833A>T (p.Glu2278Val) c.566A>T (p.Glu189Val) c.428A>T (p.Glu143Val) c.6728A>T (p.Glu2243Val) | COSMIC COSMIC |
| X | g.154860499T>C | CA414903570 | F8 | c.6833A>G (p.Glu2278Gly) c.566A>G (p.Glu189Gly) c.428A>G (p.Glu143Gly) c.6728A>G (p.Glu2243Gly) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154860499T>G | CA414903575 | F8 | c.6833A>C (p.Glu2278Ala) c.566A>C (p.Glu189Ala) c.428A>C (p.Glu143Ala) c.6728A>C (p.Glu2243Ala) | COSMIC COSMIC |
| X | g.154860499T= | CA2466814995 | F8 | c.6833A= (p.Glu2278=) c.566A= (p.Glu189=) c.428A= (p.Glu143=) c.6728A= (p.Glu2243=) | |
| X | g.154860500C>A | CA414903610 | F8 | c.6832G>T (p.Glu2278Ter) c.565G>T (p.Glu189Ter) c.427G>T (p.Glu143Ter) c.6727G>T (p.Glu2243Ter) | |
| X | g.154860500C= | CA2466814996 | F8 | c.6832G= (p.Glu2278=) c.565G= (p.Glu189=) c.427G= (p.Glu143=) c.6727G= (p.Glu2243=) | |
| X | g.154860500C>G | CA337325917 | F8 | c.6832G>C (p.Glu2278Gln) c.565G>C (p.Glu189Gln) c.427G>C (p.Glu143Gln) c.6727G>C (p.Glu2243Gln) | dbSNP gnomAD v4 |
| X | g.154860500C>T | CA414903581 | F8 | c.6832G>A (p.Glu2278Lys) c.565G>A (p.Glu189Lys) c.427G>A (p.Glu143Lys) c.6727G>A (p.Glu2243Lys) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154860501C>A | CA414903612 | F8 | c.6831G>T (p.Lys2277Asn) c.564G>T (p.Lys188Asn) c.426G>T (p.Lys142Asn) c.6726G>T (p.Lys2242Asn) | |
| X | g.154860501C>G | CA414903613 | F8 | c.6831G>C (p.Lys2277Asn) c.564G>C (p.Lys188Asn) c.426G>C (p.Lys142Asn) c.6726G>C (p.Lys2242Asn) | |
| X | g.154860501C>T | CA519356135 | F8 | c.6831G>A (p.Lys2277=) c.564G>A (p.Lys188=) c.426G>A (p.Lys142=) c.6726G>A (p.Lys2242=) | |
| X | g.154860502T>A | CA414903619 | F8 | c.6830A>T (p.Lys2277Met) c.563A>T (p.Lys188Met) c.425A>T (p.Lys142Met) c.6725A>T (p.Lys2242Met) | |
| X | g.154860502T>C | CA414903626 | F8 | c.6830A>G (p.Lys2277Arg) c.563A>G (p.Lys188Arg) c.425A>G (p.Lys142Arg) c.6725A>G (p.Lys2242Arg) | |
| X | g.154860502T>G | CA414903632 | F8 | c.6830A>C (p.Lys2277Thr) c.563A>C (p.Lys188Thr) c.425A>C (p.Lys142Thr) c.6725A>C (p.Lys2242Thr) | gnomAD v4 |
| X | g.154860503T>A | CA414903635 | F8 | c.6829A>T (p.Lys2277Ter) c.562A>T (p.Lys188Ter) c.424A>T (p.Lys142Ter) c.6724A>T (p.Lys2242Ter) | |
| X | g.154860503T>C | CA414903638 | F8 | c.6829A>G (p.Lys2277Glu) c.562A>G (p.Lys188Glu) c.424A>G (p.Lys142Glu) c.6724A>G (p.Lys2242Glu) | |
| X | g.154860503T>G | CA414903646 | F8 | c.6829A>C (p.Lys2277Gln) c.562A>C (p.Lys188Gln) c.424A>C (p.Lys142Gln) c.6724A>C (p.Lys2242Gln) | |
| X | g.154860503T= | CA2466814997 | F8 | c.6829A= (p.Lys2277=) c.562A= (p.Lys188=) c.424A= (p.Lys142=) c.6724A= (p.Lys2242=) | |
| X | g.154860504C>A | CA519356140 | F8 | c.6828G>T (p.Val2276=) c.561G>T (p.Val187=) c.423G>T (p.Val141=) c.6723G>T (p.Val2241=) | |
| X | g.154860504C>G | CA519356141 | F8 | c.6828G>C (p.Val2276=) c.561G>C (p.Val187=) c.423G>C (p.Val141=) c.6723G>C (p.Val2241=) | |
| X | g.154860504C>T | CA519356142 | F8 | c.6828G>A (p.Val2276=) c.561G>A (p.Val187=) c.423G>A (p.Val141=) c.6723G>A (p.Val2241=) | gnomAD v4 COSMIC COSMIC |
| X | g.154860504dup | CA873368334 | F8 | c.6828dup (p.Lys2277GlufsTer?) c.561dup (p.Lys188GlufsTer?) c.423dup (p.Lys142GlufsTer?) c.6723dup (p.Lys2242GlufsTer?) | dbSNP |
| X | g.154860505A>C | CA414903654 | F8 | c.6827T>G (p.Val2276Gly) c.560T>G (p.Val187Gly) c.422T>G (p.Val141Gly) c.6722T>G (p.Val2241Gly) | |
| X | g.154860505A>G | CA414903663 | F8 | c.6827T>C (p.Val2276Ala) c.560T>C (p.Val187Ala) c.422T>C (p.Val141Ala) c.6722T>C (p.Val2241Ala) | |
| X | g.154860505A>T | CA414903677 | F8 | c.6827T>A (p.Val2276Glu) c.560T>A (p.Val187Glu) c.422T>A (p.Val141Glu) c.6722T>A (p.Val2241Glu) | |
| X | g.154860506C>A | CA414903698 | F8 | c.6826G>T (p.Val2276Leu) c.559G>T (p.Val187Leu) c.421G>T (p.Val141Leu) c.6721G>T (p.Val2241Leu) | |
| X | g.154860506C= | CA2466814998 | F8 | c.6826G= (p.Val2276=) c.559G= (p.Val187=) c.421G= (p.Val141=) c.6721G= (p.Val2241=) | |
| X | g.154860506C>G | CA414903690 | F8 | c.6826G>C (p.Val2276Leu) c.559G>C (p.Val187Leu) c.421G>C (p.Val141Leu) c.6721G>C (p.Val2241Leu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154860506C>T | CA414903683 | F8 | c.6826G>A (p.Val2276Met) c.559G>A (p.Val187Met) c.421G>A (p.Val141Met) c.6721G>A (p.Val2241Met) | gnomAD v4 |
| X | g.154860507del | CA2695237129 | F8 | c.6825del (p.Tyr2275Ter) c.558del (p.Tyr186Ter) c.420del (p.Tyr140Ter) c.6720del (p.Tyr2240Ter) | |
| X | g.154860507A>C | CA414903722 | F8 | c.6825T>G (p.Tyr2275Ter) c.558T>G (p.Tyr186Ter) c.420T>G (p.Tyr140Ter) c.6720T>G (p.Tyr2240Ter) | |
| X | g.154860507A>G | CA519356148 | F8 | c.6825T>C (p.Tyr2275=) c.558T>C (p.Tyr186=) c.420T>C (p.Tyr140=) c.6720T>C (p.Tyr2240=) | gnomAD v4 |
| X | g.154860507A>T | CA414903745 | F8 | c.6825T>A (p.Tyr2275Ter) c.558T>A (p.Tyr186Ter) c.420T>A (p.Tyr140Ter) c.6720T>A (p.Tyr2240Ter) | ClinVar |
| X | g.154860508T>A | CA414903750 | F8 | c.6824A>T (p.Tyr2275Phe) c.557A>T (p.Tyr186Phe) c.419A>T (p.Tyr140Phe) c.6719A>T (p.Tyr2240Phe) | |
| X | g.154860508T>C | CA414903754 | F8 | c.6824A>G (p.Tyr2275Cys) c.557A>G (p.Tyr186Cys) c.419A>G (p.Tyr140Cys) c.6719A>G (p.Tyr2240Cys) | |
| X | g.154860508T>G | CA414903752 | F8 | c.6824A>C (p.Tyr2275Ser) c.557A>C (p.Tyr186Ser) c.419A>C (p.Tyr140Ser) c.6719A>C (p.Tyr2240Ser) | |
| X | g.154860509A= | CA2466814999 | F8 | c.6823T= (p.Tyr2275=) c.556T= (p.Tyr186=) c.418T= (p.Tyr140=) c.6718T= (p.Tyr2240=) | |
| X | g.154860509A>C | CA414903759 | F8 | c.6823T>G (p.Tyr2275Asp) c.556T>G (p.Tyr186Asp) c.418T>G (p.Tyr140Asp) c.6718T>G (p.Tyr2240Asp) | |
| X | g.154860509A>G | CA414903766 | F8 | c.6823T>C (p.Tyr2275His) c.556T>C (p.Tyr186His) c.418T>C (p.Tyr140His) c.6718T>C (p.Tyr2240His) | dbSNP gnomAD v4 |
| X | g.154860509A>T | CA414903772 | F8 | c.6823T>A (p.Tyr2275Asn) c.556T>A (p.Tyr186Asn) c.418T>A (p.Tyr140Asn) c.6718T>A (p.Tyr2240Asn) | dbSNP |
| X | g.154860509_154860510insACATAAAAAGGTTGATATATGACCAAATTTT | CA2560679545 | F8 | c.6822_6823insAAAATTTGGTCATATATCAACCTTTTTATGT (p.Tyr2275LysfsTer?) c.555_556insAAAATTTGGTCATATATCAACCTTTTTATGT (p.Tyr186LysfsTer?) c.417_418insAAAATTTGGTCATATATCAACCTTTTTATGT (p.Tyr140LysfsTer?) c.6717_6718insAAAATTTGGTCATATATCAACCTTTTTATGT (p.Tyr2240LysfsTer?) | |
| X | g.154860510C>A | CA414903775 | F8 | c.6822G>T (p.Met2274Ile) c.555G>T (p.Met185Ile) c.417G>T (p.Met139Ile) c.6717G>T (p.Met2239Ile) | |
| X | g.154860510C>G | CA414903803 | F8 | c.6822G>C (p.Met2274Ile) c.555G>C (p.Met185Ile) c.417G>C (p.Met139Ile) c.6717G>C (p.Met2239Ile) | |
| X | g.154860510C>T | CA414903809 | F8 | c.6822G>A (p.Met2274Ile) c.555G>A (p.Met185Ile) c.417G>A (p.Met139Ile) c.6717G>A (p.Met2239Ile) | |
| X | g.154860511A>C | CA414903815 | F8 | c.6821T>G (p.Met2274Arg) c.554T>G (p.Met185Arg) c.416T>G (p.Met139Arg) c.6716T>G (p.Met2239Arg) | |
| X | g.154860511A>G | CA414903819 | F8 | c.6821T>C (p.Met2274Thr) c.554T>C (p.Met185Thr) c.416T>C (p.Met139Thr) c.6716T>C (p.Met2239Thr) | ClinVar |
| X | g.154860511A>T | CA414903826 | F8 | c.6821T>A (p.Met2274Lys) c.554T>A (p.Met185Lys) c.416T>A (p.Met139Lys) c.6716T>A (p.Met2239Lys) | |
| X | g.154860512T>A | CA414903831 | F8 | c.6820A>T (p.Met2274Leu) c.553A>T (p.Met185Leu) c.415A>T (p.Met139Leu) c.6715A>T (p.Met2239Leu) | |
| X | g.154860512T>C | CA414903832 | F8 | c.6820A>G (p.Met2274Val) c.553A>G (p.Met185Val) c.415A>G (p.Met139Val) c.6715A>G (p.Met2239Val) | dbSNP |
| X | g.154860512T>G | CA414903834 | F8 | c.6820A>C (p.Met2274Leu) c.553A>C (p.Met185Leu) c.415A>C (p.Met139Leu) c.6715A>C (p.Met2239Leu) | |
| X | g.154860512T= | CA2466815000 | F8 | c.6820A= (p.Met2274=) c.553A= (p.Met185=) c.415A= (p.Met139=) c.6715A= (p.Met2239=) | |
| X | g.154860513G>A | CA519356165 | F8 | c.6819C>T (p.Ser2273=) c.552C>T (p.Ser184=) c.414C>T (p.Ser138=) c.6714C>T (p.Ser2238=) | |
| X | g.154860513G>C | CA414903838 | F8 | c.6819C>G (p.Ser2273Arg) c.552C>G (p.Ser184Arg) c.414C>G (p.Ser138Arg) c.6714C>G (p.Ser2238Arg) | |
| X | g.154860513G>T | CA414903841 | F8 | c.6819C>A (p.Ser2273Arg) c.552C>A (p.Ser184Arg) c.414C>A (p.Ser138Arg) c.6714C>A (p.Ser2238Arg) | |
| X | g.154860514C>A | CA414903845 | F8 | c.6818G>T (p.Ser2273Ile) c.551G>T (p.Ser184Ile) c.413G>T (p.Ser138Ile) c.6713G>T (p.Ser2238Ile) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154860514C= | CA2466815001 | F8 | c.6818G= (p.Ser2273=) c.551G= (p.Ser184=) c.413G= (p.Ser138=) c.6713G= (p.Ser2238=) | |
| X | g.154860514C>G | CA414903846 | F8 | c.6818G>C (p.Ser2273Thr) c.551G>C (p.Ser184Thr) c.413G>C (p.Ser138Thr) c.6713G>C (p.Ser2238Thr) | |
| X | g.154860514C>T | CA10567755 | F8 | c.6818G>A (p.Ser2273Asn) c.551G>A (p.Ser184Asn) c.413G>A (p.Ser138Asn) c.6713G>A (p.Ser2238Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154860515T>A | CA414903864 | F8 | c.6817A>T (p.Ser2273Cys) c.550A>T (p.Ser184Cys) c.412A>T (p.Ser138Cys) c.6712A>T (p.Ser2238Cys) | |
| X | g.154860515T>C | CA414903869 | F8 | c.6817A>G (p.Ser2273Gly) c.550A>G (p.Ser184Gly) c.412A>G (p.Ser138Gly) c.6712A>G (p.Ser2238Gly) | dbSNP gnomAD v4 |
| X | g.154860515T>G | CA414903875 | F8 | c.6817A>C (p.Ser2273Arg) c.550A>C (p.Ser184Arg) c.412A>C (p.Ser138Arg) c.6712A>C (p.Ser2238Arg) | |
| X | g.154860515T= | CA2466815002 | F8 | c.6817A= (p.Ser2273=) c.550A= (p.Ser184=) c.412A= (p.Ser138=) c.6712A= (p.Ser2238=) | |
| X | g.154860516G>A | CA519356170 | F8 | c.6816C>T (p.Thr2272=) c.549C>T (p.Thr183=) c.411C>T (p.Thr137=) c.6711C>T (p.Thr2237=) | |
| X | g.154860516G>C | CA519356171 | F8 | c.6816C>G (p.Thr2272=) c.549C>G (p.Thr183=) c.411C>G (p.Thr137=) c.6711C>G (p.Thr2237=) | |
| X | g.154860516G>T | CA519356172 | F8 | c.6816C>A (p.Thr2272=) c.549C>A (p.Thr183=) c.411C>A (p.Thr137=) c.6711C>A (p.Thr2237=) | |
| X | g.154860517del | CA519356173 | F8 | c.6816del (p.Ser2273AlafsTer4) c.549del (p.Ser184AlafsTer4) c.411del (p.Ser138AlafsTer4) c.6711del (p.Ser2238AlafsTer4) | COSMIC COSMIC |
| X | g.154860517G>A | CA414903883 | F8 | c.6815C>T (p.Thr2272Ile) c.548C>T (p.Thr183Ile) c.410C>T (p.Thr137Ile) c.6710C>T (p.Thr2237Ile) | |
| X | g.154860517G>C | CA414903892 | F8 | c.6815C>G (p.Thr2272Ser) c.548C>G (p.Thr183Ser) c.410C>G (p.Thr137Ser) c.6710C>G (p.Thr2237Ser) | |
| X | g.154860517G>T | CA414903903 | F8 | c.6815C>A (p.Thr2272Asn) c.548C>A (p.Thr183Asn) c.410C>A (p.Thr137Asn) c.6710C>A (p.Thr2237Asn) | |
| X | g.154860518T>A | CA414903916 | F8 | c.6814A>T (p.Thr2272Ser) c.547A>T (p.Thr183Ser) c.409A>T (p.Thr137Ser) c.6709A>T (p.Thr2237Ser) | |
| X | g.154860518T>C | CA10567756 | F8 | c.6814A>G (p.Thr2272Ala) c.547A>G (p.Thr183Ala) c.409A>G (p.Thr137Ala) c.6709A>G (p.Thr2237Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154860518T>G | CA414903910 | F8 | c.6814A>C (p.Thr2272Pro) c.547A>C (p.Thr183Pro) c.409A>C (p.Thr137Pro) c.6709A>C (p.Thr2237Pro) | |
| X | g.154860518T= | CA2466815003 | F8 | c.6814A= (p.Thr2272=) c.547A= (p.Thr183=) c.409A= (p.Thr137=) c.6709A= (p.Thr2237=) | |
| X | g.154860519A>C | CA519356186 | F8 | c.6813T>G (p.Leu2271=) c.546T>G (p.Leu182=) c.408T>G (p.Leu136=) c.6708T>G (p.Leu2236=) | |
| X | g.154860519A>G | CA519356187 | F8 | c.6813T>C (p.Leu2271=) c.546T>C (p.Leu182=) c.408T>C (p.Leu136=) c.6708T>C (p.Leu2236=) | |
| X | g.154860519A>T | CA519356188 | F8 | c.6813T>A (p.Leu2271=) c.546T>A (p.Leu182=) c.408T>A (p.Leu136=) c.6708T>A (p.Leu2236=) | |
| X | g.154860520A= | CA2466815004 | F8 | c.6812T= (p.Leu2271=) c.545T= (p.Leu182=) c.407T= (p.Leu136=) c.6707T= (p.Leu2236=) | |
| X | g.154860520A>C | CA414903922 | F8 | c.6812T>G (p.Leu2271Arg) c.545T>G (p.Leu182Arg) c.407T>G (p.Leu136Arg) c.6707T>G (p.Leu2236Arg) | |
| X | g.154860520A>G | CA414903929 | F8 | c.6812T>C (p.Leu2271Pro) c.545T>C (p.Leu182Pro) c.407T>C (p.Leu136Pro) c.6707T>C (p.Leu2236Pro) | ClinVar dbSNP |
| X | g.154860520A>T | CA414903934 | F8 | c.6812T>A (p.Leu2271His) c.545T>A (p.Leu182His) c.407T>A (p.Leu136His) c.6707T>A (p.Leu2236His) | |
| X | g.154860521G>A | CA414903935 | F8 | c.6811C>T (p.Leu2271Phe) c.544C>T (p.Leu182Phe) c.406C>T (p.Leu136Phe) c.6706C>T (p.Leu2236Phe) | |
| X | g.154860521G>C | CA414903937 | F8 | c.6811C>G (p.Leu2271Val) c.544C>G (p.Leu182Val) c.406C>G (p.Leu136Val) c.6706C>G (p.Leu2236Val) | |
| X | g.154860521G>T | CA414903939 | F8 | c.6811C>A (p.Leu2271Ile) c.544C>A (p.Leu182Ile) c.406C>A (p.Leu136Ile) c.6706C>A (p.Leu2236Ile) | |
| X | g.154860522C>A | CA519356195 | F8 | c.6810G>T (p.Leu2270=) c.543G>T (p.Leu181=) c.405G>T (p.Leu135=) c.6705G>T (p.Leu2235=) | |
| X | g.154860522C>G | CA519356193 | F8 | c.6810G>C (p.Leu2270=) c.543G>C (p.Leu181=) c.405G>C (p.Leu135=) c.6705G>C (p.Leu2235=) | |
| X | g.154860522C>T | CA519356194 | F8 | c.6810G>A (p.Leu2270=) c.543G>A (p.Leu181=) c.405G>A (p.Leu135=) c.6705G>A (p.Leu2235=) | |
| X | g.154860523A>C | CA414903945 | F8 | c.6809T>G (p.Leu2270Arg) c.542T>G (p.Leu181Arg) c.404T>G (p.Leu135Arg) c.6704T>G (p.Leu2235Arg) | |
| X | g.154860523A>G | CA414903954 | F8 | c.6809T>C (p.Leu2270Pro) c.542T>C (p.Leu181Pro) c.404T>C (p.Leu135Pro) c.6704T>C (p.Leu2235Pro) | |
| X | g.154860523A>T | CA414903971 | F8 | c.6809T>A (p.Leu2270Gln) c.542T>A (p.Leu181Gln) c.404T>A (p.Leu135Gln) c.6704T>A (p.Leu2235Gln) | |
| X | g.154860526_154860527del | CA2695237130 | F8 | c.6808_6809del (p.Leu2270AlafsTer?) c.541_542del (p.Leu181AlafsTer?) c.403_404del (p.Leu135AlafsTer?) c.6703_6704del (p.Leu2235AlafsTer?) | |
| X | g.154860524G>A | CA519356198 | F8 | c.6808C>T (p.Leu2270=) c.541C>T (p.Leu181=) c.403C>T (p.Leu135=) c.6703C>T (p.Leu2235=) | |
| X | g.154860524G>C | CA414903983 | F8 | c.6808C>G (p.Leu2270Val) c.541C>G (p.Leu181Val) c.403C>G (p.Leu135Val) c.6703C>G (p.Leu2235Val) | |
| X | g.154860524G>T | CA414903997 | F8 | c.6808C>A (p.Leu2270Met) c.541C>A (p.Leu181Met) c.403C>A (p.Leu135Met) c.6703C>A (p.Leu2235Met) | |
| X | g.154860525A>C | CA519356200 | F8 | c.6807T>G (p.Ser2269=) c.540T>G (p.Ser180=) c.402T>G (p.Ser134=) c.6702T>G (p.Ser2234=) | |
| X | g.154860525A>G | CA519356201 | F8 | c.6807T>C (p.Ser2269=) c.540T>C (p.Ser180=) c.402T>C (p.Ser134=) c.6702T>C (p.Ser2234=) | |
| X | g.154860525A>T | CA519356202 | F8 | c.6807T>A (p.Ser2269=) c.540T>A (p.Ser180=) c.402T>A (p.Ser134=) c.6702T>A (p.Ser2234=) | |
| X | g.154860526G>A | CA414904004 | F8 | c.6806C>T (p.Ser2269Phe) c.539C>T (p.Ser180Phe) c.401C>T (p.Ser134Phe) c.6701C>T (p.Ser2234Phe) | |
| X | g.154860526G>C | CA414904000 | F8 | c.6806C>G (p.Ser2269Cys) c.539C>G (p.Ser180Cys) c.401C>G (p.Ser134Cys) c.6701C>G (p.Ser2234Cys) | |
| X | g.154860526G= | CA2466815005 | F8 | c.6806C= (p.Ser2269=) c.539C= (p.Ser180=) c.401C= (p.Ser134=) c.6701C= (p.Ser2234=) | |
| X | g.154860526G>T | CA414904002 | F8 | c.6806C>A (p.Ser2269Tyr) c.539C>A (p.Ser180Tyr) c.401C>A (p.Ser134Tyr) c.6701C>A (p.Ser2234Tyr) | dbSNP gnomAD v4 |
| X | g.154860527A= | CA2466815006 | F8 | c.6805T= (p.Ser2269=) c.538T= (p.Ser180=) c.400T= (p.Ser134=) c.6700T= (p.Ser2234=) | |
| X | g.154860527A>C | CA414904009 | F8 | c.6805T>G (p.Ser2269Ala) c.538T>G (p.Ser180Ala) c.400T>G (p.Ser134Ala) c.6700T>G (p.Ser2234Ala) | |
| X | g.154860527A>G | CA414904014 | F8 | c.6805T>C (p.Ser2269Pro) c.538T>C (p.Ser180Pro) c.400T>C (p.Ser134Pro) c.6700T>C (p.Ser2234Pro) | dbSNP gnomAD v4 |
| X | g.154860527A>T | CA414904030 | F8 | c.6805T>A (p.Ser2269Thr) c.538T>A (p.Ser180Thr) c.400T>A (p.Ser134Thr) c.6700T>A (p.Ser2234Thr) | |
| X | g.154860528T>A | CA414904035 | F8 | c.6804A>T (p.Lys2268Asn) c.537A>T (p.Lys179Asn) c.399A>T (p.Lys133Asn) c.6699A>T (p.Lys2233Asn) | |
| X | g.154860528T>C | CA519356206 | F8 | c.6804A>G (p.Lys2268=) c.537A>G (p.Lys179=) c.399A>G (p.Lys133=) c.6699A>G (p.Lys2233=) | |
| X | g.154860528T>G | CA414904047 | F8 | c.6804A>C (p.Lys2268Asn) c.537A>C (p.Lys179Asn) c.399A>C (p.Lys133Asn) c.6699A>C (p.Lys2233Asn) | |
| X | g.154860531del | CA2695237131 | F8 | c.6804del (p.Lys2268AsnfsTer9) c.537del (p.Lys179AsnfsTer9) c.399del (p.Lys133AsnfsTer9) c.6699del (p.Lys2233AsnfsTer9) | |
| X | g.154860529T>A | CA414904055 | F8 | c.6803A>T (p.Lys2268Ile) c.536A>T (p.Lys179Ile) c.398A>T (p.Lys133Ile) c.6698A>T (p.Lys2233Ile) | |
| X | g.154860529T>C | CA414904060 | F8 | c.6803A>G (p.Lys2268Arg) c.536A>G (p.Lys179Arg) c.398A>G (p.Lys133Arg) c.6698A>G (p.Lys2233Arg) | |
| X | g.154860529T>G | CA414904065 | F8 | c.6803A>C (p.Lys2268Thr) c.536A>C (p.Lys179Thr) c.398A>C (p.Lys133Thr) c.6698A>C (p.Lys2233Thr) | |
| X | g.154860529T= | CA2466815007 | F8 | c.6803A= (p.Lys2268=) c.536A= (p.Lys179=) c.398A= (p.Lys133=) c.6698A= (p.Lys2233=) | |
| X | g.154860529_154860530insA | CA2466815009 | F8 | c.6802_6803insT (p.Lys2268IlefsTer?) c.535_536insT (p.Lys179IlefsTer?) c.397_398insT (p.Lys133IlefsTer?) c.6697_6698insT (p.Lys2233IlefsTer?) | dbSNP |
| X | g.154860530T>A | CA414904076 | F8 | c.6802A>T (p.Lys2268Ter) c.535A>T (p.Lys179Ter) c.397A>T (p.Lys133Ter) c.6697A>T (p.Lys2233Ter) | |
| X | g.154860530T>C | CA414904083 | F8 | c.6802A>G (p.Lys2268Glu) c.535A>G (p.Lys179Glu) c.397A>G (p.Lys133Glu) c.6697A>G (p.Lys2233Glu) | |
| X | g.154860530T>G | CA414904093 | F8 | c.6802A>C (p.Lys2268Gln) c.535A>C (p.Lys179Gln) c.397A>C (p.Lys133Gln) c.6697A>C (p.Lys2233Gln) | dbSNP |
| X | g.154860530T= | CA2466815008 | F8 | c.6802A= (p.Lys2268=) c.535A= (p.Lys179=) c.397A= (p.Lys133=) c.6697A= (p.Lys2233=) | |
| X | g.154860530delinsAG | CA2695237132 | F8 | c.6802delinsCT (p.Lys2268LeufsTer?) c.535delinsCT (p.Lys179LeufsTer?) c.397delinsCT (p.Lys133LeufsTer?) c.6697delinsCT (p.Lys2233LeufsTer?) | |
| X | g.154860531T>A | CA519356210 | F8 | c.6801A>T (p.Val2267=) c.534A>T (p.Val178=) c.396A>T (p.Val132=) c.6696A>T (p.Val2232=) | |
| X | g.154860531T>C | CA519356211 | F8 | c.6801A>G (p.Val2267=) c.534A>G (p.Val178=) c.396A>G (p.Val132=) c.6696A>G (p.Val2232=) | gnomAD v4 |
| X | g.154860531T>G | CA519356212 | F8 | c.6801A>C (p.Val2267=) c.534A>C (p.Val178=) c.396A>C (p.Val132=) c.6696A>C (p.Val2232=) | |
| X | g.154860532A>C | CA414904099 | F8 | c.6800T>G (p.Val2267Gly) c.533T>G (p.Val178Gly) c.395T>G (p.Val132Gly) c.6695T>G (p.Val2232Gly) | |
| X | g.154860532A>G | CA414904105 | F8 | c.6800T>C (p.Val2267Ala) c.533T>C (p.Val178Ala) c.395T>C (p.Val132Ala) c.6695T>C (p.Val2232Ala) | |
| X | g.154860532A>T | CA414904096 | F8 | c.6800T>A (p.Val2267Glu) c.533T>A (p.Val178Glu) c.395T>A (p.Val132Glu) c.6695T>A (p.Val2232Glu) | |
| X | g.154860532dup | CA2695237133 | F8 | c.6800dup (p.Ser2269IlefsTer?) c.533dup (p.Ser180IlefsTer?) c.395dup (p.Ser134IlefsTer?) c.6695dup (p.Ser2234IlefsTer?) | |
| X | g.154860533C>A | CA414904115 | F8 | c.6799G>T (p.Val2267Leu) c.532G>T (p.Val178Leu) c.394G>T (p.Val132Leu) c.6694G>T (p.Val2232Leu) | |
| X | g.154860533C>G | CA414904106 | F8 | c.6799G>C (p.Val2267Leu) c.532G>C (p.Val178Leu) c.394G>C (p.Val132Leu) c.6694G>C (p.Val2232Leu) | |
| X | g.154860533C>T | CA414904112 | F8 | c.6799G>A (p.Val2267Ile) c.532G>A (p.Val178Ile) c.394G>A (p.Val132Ile) c.6694G>A (p.Val2232Ile) | |
| X | g.154860534T>A | CA519356215 | F8 | c.6798A>T (p.Gly2266=) c.531A>T (p.Gly177=) c.393A>T (p.Gly131=) c.6693A>T (p.Gly2231=) | |
| X | g.154860534T>C | CA519356216 | F8 | c.6798A>G (p.Gly2266=) c.531A>G (p.Gly177=) c.393A>G (p.Gly131=) c.6693A>G (p.Gly2231=) | |
| X | g.154860534T>G | CA519356217 | F8 | c.6798A>C (p.Gly2266=) c.531A>C (p.Gly177=) c.393A>C (p.Gly131=) c.6693A>C (p.Gly2231=) | |
| X | g.154860535C>A | CA414904124 | F8 | c.6797G>T (p.Gly2266Val) c.530G>T (p.Gly177Val) c.392G>T (p.Gly131Val) c.6692G>T (p.Gly2231Val) | |
| X | g.154860535C>G | CA414904130 | F8 | c.6797G>C (p.Gly2266Ala) c.530G>C (p.Gly177Ala) c.392G>C (p.Gly131Ala) c.6692G>C (p.Gly2231Ala) | |
| X | g.154860535C>T | CA414904136 | F8 | c.6797G>A (p.Gly2266Glu) c.530G>A (p.Gly177Glu) c.392G>A (p.Gly131Glu) c.6692G>A (p.Gly2231Glu) | |
| X | g.154860537del | CA2695237134 | F8 | c.6797del (p.Gly2266GlufsTer2) c.530del (p.Gly177GlufsTer2) c.392del (p.Gly131GlufsTer2) c.6692del (p.Gly2231GlufsTer2) | |
| X | g.154860536C>A | CA414904148 | F8 | c.6796G>T (p.Gly2266Ter) c.529G>T (p.Gly177Ter) c.391G>T (p.Gly131Ter) c.6691G>T (p.Gly2231Ter) | |
| X | g.154860536C= | CA2466815011 | F8 | c.6796G= (p.Gly2266=) c.529G= (p.Gly177=) c.391G= (p.Gly131=) c.6691G= (p.Gly2231=) | |
| X | g.154860536C>G | CA414904151 | F8 | c.6796G>C (p.Gly2266Arg) c.529G>C (p.Gly177Arg) c.391G>C (p.Gly131Arg) c.6691G>C (p.Gly2231Arg) | |
| X | g.154860536C>T | CA414904156 | F8 | c.6796G>A (p.Gly2266Arg) c.529G>A (p.Gly177Arg) c.391G>A (p.Gly131Arg) c.6691G>A (p.Gly2231Arg) | dbSNP |
| X | g.154860536_154860538delinsCCT | CA2466815010 | F8 | c.6794_6796delinsAGG (p.Gln2265=) c.527_529delinsAGG (p.Gln176=) c.389_391delinsAGG (p.Gln130=) c.6689_6691delinsAGG (p.Gln2230=) | |
| X | g.154860537C>A | CA414904162 | F8 | c.6795G>T (p.Gln2265His) c.528G>T (p.Gln176His) c.390G>T (p.Gln130His) c.6690G>T (p.Gln2230His) | dbSNP |
| X | g.154860537C= | CA2466815012 | F8 | c.6795G= (p.Gln2265=) c.528G= (p.Gln176=) c.390G= (p.Gln130=) c.6690G= (p.Gln2230=) | |
| X | g.154860537C>G | CA414904164 | F8 | c.6795G>C (p.Gln2265His) c.528G>C (p.Gln176His) c.390G>C (p.Gln130His) c.6690G>C (p.Gln2230His) | |
| X | g.154860537C>T | CA519356223 | F8 | c.6795G>A (p.Gln2265=) c.528G>A (p.Gln176=) c.390G>A (p.Gln130=) c.6690G>A (p.Gln2230=) | |
| X | g.154860537_154860538del | CA255220 | F8 | c.6794_6795del (p.Gln2265ArgfsTer?) c.527_528del (p.Gln176ArgfsTer?) c.389_390del (p.Gln130ArgfsTer?) c.6689_6690del (p.Gln2230ArgfsTer?) | ClinVar dbSNP |
| X | g.154860538del | CA2695237135 | F8 | c.6794del (p.Gln2265ArgfsTer3) c.527del (p.Gln176ArgfsTer3) c.389del (p.Gln130ArgfsTer3) c.6689del (p.Gln2230ArgfsTer3) | |
| X | g.154860538T>A | CA414904181 | F8 | c.6794A>T (p.Gln2265Leu) c.527A>T (p.Gln176Leu) c.389A>T (p.Gln130Leu) c.6689A>T (p.Gln2230Leu) | |
| X | g.154860538T>C | CA255219 | F8 | c.6794A>G (p.Gln2265Arg) c.527A>G (p.Gln176Arg) c.389A>G (p.Gln130Arg) c.6689A>G (p.Gln2230Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.154860538T>G | CA414904180 | F8 | c.6794A>C (p.Gln2265Pro) c.527A>C (p.Gln176Pro) c.389A>C (p.Gln130Pro) c.6689A>C (p.Gln2230Pro) | |
| X | g.154860538T= | CA2466815013 | F8 | c.6794A= (p.Gln2265=) c.527A= (p.Gln176=) c.389A= (p.Gln130=) c.6689A= (p.Gln2230=) | |
| X | g.154860539G>A | CA414904188 | F8 | c.6793C>T (p.Gln2265Ter) c.526C>T (p.Gln176Ter) c.388C>T (p.Gln130Ter) c.6688C>T (p.Gln2230Ter) | |
| X | g.154860539G>C | CA414904195 | F8 | c.6793C>G (p.Gln2265Glu) c.526C>G (p.Gln176Glu) c.388C>G (p.Gln130Glu) c.6688C>G (p.Gln2230Glu) | COSMIC COSMIC |
| X | g.154860539G>T | CA414904200 | F8 | c.6793C>A (p.Gln2265Lys) c.526C>A (p.Gln176Lys) c.388C>A (p.Gln130Lys) c.6688C>A (p.Gln2230Lys) | |
| X | g.154860540A>C | CA519356230 | F8 | c.6792T>G (p.Thr2264=) c.525T>G (p.Thr175=) c.387T>G (p.Thr129=) c.6687T>G (p.Thr2229=) | |
| X | g.154860540A>G | CA519356227 | F8 | c.6792T>C (p.Thr2264=) c.525T>C (p.Thr175=) c.387T>C (p.Thr129=) c.6687T>C (p.Thr2229=) | gnomAD v4 |
| X | g.154860540A>T | CA519356228 | F8 | c.6792T>A (p.Thr2264=) c.525T>A (p.Thr175=) c.387T>A (p.Thr129=) c.6687T>A (p.Thr2229=) | |
| X | g.154860541G>A | CA414904204 | F8 | c.6791C>T (p.Thr2264Ile) c.524C>T (p.Thr175Ile) c.386C>T (p.Thr129Ile) c.6686C>T (p.Thr2229Ile) | dbSNP |
| X | g.154860541G>C | CA414904206 | F8 | c.6791C>G (p.Thr2264Ser) c.524C>G (p.Thr175Ser) c.386C>G (p.Thr129Ser) c.6686C>G (p.Thr2229Ser) | |
| X | g.154860541G= | CA2466815014 | F8 | c.6791C= (p.Thr2264=) c.524C= (p.Thr175=) c.386C= (p.Thr129=) c.6686C= (p.Thr2229=) | |
| X | g.154860541G>T | CA414904208 | F8 | c.6791C>A (p.Thr2264Asn) c.524C>A (p.Thr175Asn) c.386C>A (p.Thr129Asn) c.6686C>A (p.Thr2229Asn) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154860542T>A | CA414904231 | F8 | c.6790A>T (p.Thr2264Ser) c.523A>T (p.Thr175Ser) c.385A>T (p.Thr129Ser) c.6685A>T (p.Thr2229Ser) | |
| X | g.154860542T>C | CA414904250 | F8 | c.6790A>G (p.Thr2264Ala) c.523A>G (p.Thr175Ala) c.385A>G (p.Thr129Ala) c.6685A>G (p.Thr2229Ala) | |
| X | g.154860542T>G | CA414904257 | F8 | c.6790A>C (p.Thr2264Pro) c.523A>C (p.Thr175Pro) c.385A>C (p.Thr129Pro) c.6685A>C (p.Thr2229Pro) | |
| X | g.154860544_154860547dup | CA2695167719 | F8 | c.6787_6790dup (p.Thr2264AsnfsTer?) c.520_523dup (p.Thr175AsnfsTer?) c.382_385dup (p.Thr129AsnfsTer?) c.6682_6685dup (p.Thr2229AsnfsTer?) | gnomAD v4 |
| X | g.154860543A>C | CA519356232 | F8 | c.6789T>G (p.Thr2263=) c.522T>G (p.Thr174=) c.384T>G (p.Thr128=) c.6684T>G (p.Thr2228=) | |
| X | g.154860543A>G | CA519356235 | F8 | c.6789T>C (p.Thr2263=) c.522T>C (p.Thr174=) c.384T>C (p.Thr128=) c.6684T>C (p.Thr2228=) | gnomAD v4 |
| X | g.154860543A>T | CA519356234 | F8 | c.6789T>A (p.Thr2263=) c.522T>A (p.Thr174=) c.384T>A (p.Thr128=) c.6684T>A (p.Thr2228=) | |
| X | g.154860544G>A | CA414904263 | F8 | c.6788C>T (p.Thr2263Ile) c.521C>T (p.Thr174Ile) c.383C>T (p.Thr128Ile) c.6683C>T (p.Thr2228Ile) | |
| X | g.154860544G>C | CA414904268 | F8 | c.6788C>G (p.Thr2263Ser) c.521C>G (p.Thr174Ser) c.383C>G (p.Thr128Ser) c.6683C>G (p.Thr2228Ser) | |
| X | g.154860544G>T | CA414904275 | F8 | c.6788C>A (p.Thr2263Asn) c.521C>A (p.Thr174Asn) c.383C>A (p.Thr128Asn) c.6683C>A (p.Thr2228Asn) | |
| X | g.154860544_154860546dup | CA2695237137 | F8 | c.6786_6788dup (p.Thr2263_Thr2264insThr) c.519_521dup (p.Thr174_Thr175insThr) c.381_383dup (p.Thr128_Thr129insThr) c.6681_6683dup (p.Thr2228_Thr2229insThr) | |
| X | g.154860546_154860554del | CA2695237136 | F8 | c.6780_6788del (p.Gly2261_Thr2263del) c.513_521del (p.Gly172_Thr174del) c.375_383del (p.Gly126_Thr128del) c.6675_6683del (p.Gly2226_Thr2228del) | |
| X | g.154860545T>A | CA414904286 | F8 | c.6787A>T (p.Thr2263Ser) c.520A>T (p.Thr174Ser) c.382A>T (p.Thr128Ser) c.6682A>T (p.Thr2228Ser) | |
| X | g.154860545T>C | CA414904282 | F8 | c.6787A>G (p.Thr2263Ala) c.520A>G (p.Thr174Ala) c.382A>G (p.Thr128Ala) c.6682A>G (p.Thr2228Ala) | |
| X | g.154860545T>G | CA414904280 | F8 | c.6787A>C (p.Thr2263Pro) c.520A>C (p.Thr174Pro) c.382A>C (p.Thr128Pro) c.6682A>C (p.Thr2228Pro) | |
| X | g.154860546T>A | CA519356237 | F8 | c.6786A>T (p.Val2262=) c.519A>T (p.Val173=) c.381A>T (p.Val127=) c.6681A>T (p.Val2227=) | |
| X | g.154860546T>C | CA519356238 | F8 | c.6786A>G (p.Val2262=) c.519A>G (p.Val173=) c.381A>G (p.Val127=) c.6681A>G (p.Val2227=) | dbSNP |
| X | g.154860546T>G | CA519356240 | F8 | c.6786A>C (p.Val2262=) c.519A>C (p.Val173=) c.381A>C (p.Val127=) c.6681A>C (p.Val2227=) | |
| X | g.154860546T= | CA2466815015 | F8 | c.6786A= (p.Val2262=) c.519A= (p.Val173=) c.381A= (p.Val127=) c.6681A= (p.Val2227=) | |
| X | g.154860547A>C | CA414904291 | F8 | c.6785T>G (p.Val2262Gly) c.518T>G (p.Val173Gly) c.380T>G (p.Val127Gly) c.6680T>G (p.Val2227Gly) | |
| X | g.154860547A>G | CA414904293 | F8 | c.6785T>C (p.Val2262Ala) c.518T>C (p.Val173Ala) c.380T>C (p.Val127Ala) c.6680T>C (p.Val2227Ala) | |
| X | g.154860547A>T | CA414904295 | F8 | c.6785T>A (p.Val2262Glu) c.518T>A (p.Val173Glu) c.380T>A (p.Val127Glu) c.6680T>A (p.Val2227Glu) | |
| X | g.154860548C>A | CA414904305 | F8 | c.6784G>T (p.Val2262Leu) c.517G>T (p.Val173Leu) c.379G>T (p.Val127Leu) c.6679G>T (p.Val2227Leu) | |
| X | g.154860548C>G | CA414904329 | F8 | c.6784G>C (p.Val2262Leu) c.517G>C (p.Val173Leu) c.379G>C (p.Val127Leu) c.6679G>C (p.Val2227Leu) | |
| X | g.154860548C>T | CA414904337 | F8 | c.6784G>A (p.Val2262Ile) c.517G>A (p.Val173Ile) c.379G>A (p.Val127Ile) c.6679G>A (p.Val2227Ile) | |
| X | g.154860549T>A | CA519356241 | F8 | c.6783A>T (p.Gly2261=) c.516A>T (p.Gly172=) c.378A>T (p.Gly126=) c.6678A>T (p.Gly2226=) | |
| X | g.154860549T>C | CA519356242 | F8 | c.6783A>G (p.Gly2261=) c.516A>G (p.Gly172=) c.378A>G (p.Gly126=) c.6678A>G (p.Gly2226=) | |
| X | g.154860549T>G | CA519356244 | F8 | c.6783A>C (p.Gly2261=) c.516A>C (p.Gly172=) c.378A>C (p.Gly126=) c.6678A>C (p.Gly2226=) | |
| X | g.154860550C>A | CA414904343 | F8 | c.6782G>T (p.Gly2261Val) c.515G>T (p.Gly172Val) c.377G>T (p.Gly126Val) c.6677G>T (p.Gly2226Val) | |
| X | g.154860550C>G | CA414904358 | F8 | c.6782G>C (p.Gly2261Ala) c.515G>C (p.Gly172Ala) c.377G>C (p.Gly126Ala) c.6677G>C (p.Gly2226Ala) | |
| X | g.154860550C>T | CA414904362 | F8 | c.6782G>A (p.Gly2261Glu) c.515G>A (p.Gly172Glu) c.377G>A (p.Gly126Glu) c.6677G>A (p.Gly2226Glu) | |
| X | g.154860551C>A | CA414904371 | F8 | c.6781G>T (p.Gly2261Ter) c.514G>T (p.Gly172Ter) c.376G>T (p.Gly126Ter) c.6676G>T (p.Gly2226Ter) | |
| X | g.154860551C>G | CA414904373 | F8 | c.6781G>C (p.Gly2261Arg) c.514G>C (p.Gly172Arg) c.376G>C (p.Gly126Arg) c.6676G>C (p.Gly2226Arg) | |
| X | g.154860551C>T | CA414904375 | F8 | c.6781G>A (p.Gly2261Arg) c.514G>A (p.Gly172Arg) c.376G>A (p.Gly126Arg) c.6676G>A (p.Gly2226Arg) | |
| X | g.154860552T>A | CA519356245 | F8 | c.6780A>T (p.Thr2260=) c.513A>T (p.Thr171=) c.375A>T (p.Thr125=) c.6675A>T (p.Thr2225=) | |
| X | g.154860552T>C | CA519356247 | F8 | c.6780A>G (p.Thr2260=) c.513A>G (p.Thr171=) c.375A>G (p.Thr125=) c.6675A>G (p.Thr2225=) | |
| X | g.154860552T>G | CA519356248 | F8 | c.6780A>C (p.Thr2260=) c.513A>C (p.Thr171=) c.375A>C (p.Thr125=) c.6675A>C (p.Thr2225=) | |
| X | g.154860553G>A | CA414904382 | F8 | c.6779C>T (p.Thr2260Ile) c.512C>T (p.Thr171Ile) c.374C>T (p.Thr125Ile) c.6674C>T (p.Thr2225Ile) | gnomAD v4 |
| X | g.154860553G>C | CA414904378 | F8 | c.6779C>G (p.Thr2260Arg) c.512C>G (p.Thr171Arg) c.374C>G (p.Thr125Arg) c.6674C>G (p.Thr2225Arg) | |
| X | g.154860553G>T | CA414904380 | F8 | c.6779C>A (p.Thr2260Lys) c.512C>A (p.Thr171Lys) c.374C>A (p.Thr125Lys) c.6674C>A (p.Thr2225Lys) | |
| X | g.154860554T>A | CA414904385 | F8 | c.6778A>T (p.Thr2260Ser) c.511A>T (p.Thr171Ser) c.373A>T (p.Thr125Ser) c.6673A>T (p.Thr2225Ser) | |
| X | g.154860554T>C | CA414904387 | F8 | c.6778A>G (p.Thr2260Ala) c.511A>G (p.Thr171Ala) c.373A>G (p.Thr125Ala) c.6673A>G (p.Thr2225Ala) | |
| X | g.154860554T>G | CA414904388 | F8 | c.6778A>C (p.Thr2260Pro) c.511A>C (p.Thr171Pro) c.373A>C (p.Thr125Pro) c.6673A>C (p.Thr2225Pro) | |
| X | g.154860555G>A | CA519356249 | F8 | c.6777C>T (p.Val2259=) c.510C>T (p.Val170=) c.372C>T (p.Val124=) c.6672C>T (p.Val2224=) | |
| X | g.154860555G>C | CA519356251 | F8 | c.6777C>G (p.Val2259=) c.510C>G (p.Val170=) c.372C>G (p.Val124=) c.6672C>G (p.Val2224=) | |
| X | g.154860555G>T | CA519356252 | F8 | c.6777C>A (p.Val2259=) c.510C>A (p.Val170=) c.372C>A (p.Val124=) c.6672C>A (p.Val2224=) | |
| X | g.154860556A= | CA2466815016 | F8 | c.6776T= (p.Val2259=) c.509T= (p.Val170=) c.371T= (p.Val124=) c.6671T= (p.Val2224=) | |
| X | g.154860556A>C | CA414904391 | F8 | c.6776T>G (p.Val2259Gly) c.509T>G (p.Val170Gly) c.371T>G (p.Val124Gly) c.6671T>G (p.Val2224Gly) | |
| X | g.154860556A>G | CA414904397 | F8 | c.6776T>C (p.Val2259Ala) c.509T>C (p.Val170Ala) c.371T>C (p.Val124Ala) c.6671T>C (p.Val2224Ala) | |
| X | g.154860556A>T | CA414904400 | F8 | c.6776T>A (p.Val2259Asp) c.509T>A (p.Val170Asp) c.371T>A (p.Val124Asp) c.6671T>A (p.Val2224Asp) | ClinVar dbSNP |
| X | g.154860557C>A | CA414904404 | F8 | c.6775G>T (p.Val2259Phe) c.508G>T (p.Val170Phe) c.370G>T (p.Val124Phe) c.6670G>T (p.Val2224Phe) | dbSNP |
| X | g.154860557C= | CA2466815017 | F8 | c.6775G= (p.Val2259=) c.508G= (p.Val170=) c.370G= (p.Val124=) c.6670G= (p.Val2224=) | |
| X | g.154860557C>G | CA414904410 | F8 | c.6775G>C (p.Val2259Leu) c.508G>C (p.Val170Leu) c.370G>C (p.Val124Leu) c.6670G>C (p.Val2224Leu) | gnomAD v4 |
| X | g.154860557C>T | CA414904414 | F8 | c.6775G>A (p.Val2259Ile) c.508G>A (p.Val170Ile) c.370G>A (p.Val124Ile) c.6670G>A (p.Val2224Ile) | |
| X | g.154860558T>A | CA414904420 | F8 | c.6774A>T (p.Lys2258Asn) c.507A>T (p.Lys169Asn) c.369A>T (p.Lys123Asn) c.6669A>T (p.Lys2223Asn) | |
| X | g.154860558T>C | CA519356254 | F8 | c.6774A>G (p.Lys2258=) c.507A>G (p.Lys169=) c.369A>G (p.Lys123=) c.6669A>G (p.Lys2223=) | |
| X | g.154860558T>G | CA414904423 | F8 | c.6774A>C (p.Lys2258Asn) c.507A>C (p.Lys169Asn) c.369A>C (p.Lys123Asn) c.6669A>C (p.Lys2223Asn) | dbSNP |
| X | g.154860558T= | CA2466815018 | F8 | c.6774A= (p.Lys2258=) c.507A= (p.Lys169=) c.369A= (p.Lys123=) c.6669A= (p.Lys2223=) | |
| X | g.154860559T>A | CA414904431 | F8 | c.6773A>T (p.Lys2258Ile) c.506A>T (p.Lys169Ile) c.368A>T (p.Lys123Ile) c.6668A>T (p.Lys2223Ile) | |
| X | g.154860559T>C | CA414904427 | F8 | c.6773A>G (p.Lys2258Arg) c.506A>G (p.Lys169Arg) c.368A>G (p.Lys123Arg) c.6668A>G (p.Lys2223Arg) | |
| X | g.154860559T>G | CA414904426 | F8 | c.6773A>C (p.Lys2258Thr) c.506A>C (p.Lys169Thr) c.368A>C (p.Lys123Thr) c.6668A>C (p.Lys2223Thr) | |
| X | g.154860560T>A | CA414904435 | F8 | c.6772A>T (p.Lys2258Ter) c.505A>T (p.Lys169Ter) c.367A>T (p.Lys123Ter) c.6667A>T (p.Lys2223Ter) | dbSNP |
| X | g.154860560T>C | CA414904444 | F8 | c.6772A>G (p.Lys2258Glu) c.505A>G (p.Lys169Glu) c.367A>G (p.Lys123Glu) c.6667A>G (p.Lys2223Glu) | dbSNP |
| X | g.154860560T>G | CA414904441 | F8 | c.6772A>C (p.Lys2258Gln) c.505A>C (p.Lys169Gln) c.367A>C (p.Lys123Gln) c.6667A>C (p.Lys2223Gln) | |
| X | g.154860560T= | CA2466815019 | F8 | c.6772A= (p.Lys2258=) c.505A= (p.Lys169=) c.367A= (p.Lys123=) c.6667A= (p.Lys2223=) | |
| X | g.154860561C>A | CA414904453 | F8 | c.6771G>T (p.Met2257Ile) c.504G>T (p.Met168Ile) c.366G>T (p.Met122Ile) c.6666G>T (p.Met2222Ile) | |
| X | g.154860561C>G | CA414904468 | F8 | c.6771G>C (p.Met2257Ile) c.504G>C (p.Met168Ile) c.366G>C (p.Met122Ile) c.6666G>C (p.Met2222Ile) | |
| X | g.154860561C>T | CA414904467 | F8 | c.6771G>A (p.Met2257Ile) c.504G>A (p.Met168Ile) c.366G>A (p.Met122Ile) c.6666G>A (p.Met2222Ile) | gnomAD v4 |
| X | g.154860562A>C | CA414904469 | F8 | c.6770T>G (p.Met2257Arg) c.503T>G (p.Met168Arg) c.365T>G (p.Met122Arg) c.6665T>G (p.Met2222Arg) | |
| X | g.154860562A>G | CA414904475 | F8 | c.6770T>C (p.Met2257Thr) c.503T>C (p.Met168Thr) c.365T>C (p.Met122Thr) c.6665T>C (p.Met2222Thr) | |
| X | g.154860562A>T | CA414904471 | F8 | c.6770T>A (p.Met2257Lys) c.503T>A (p.Met168Lys) c.365T>A (p.Met122Lys) c.6665T>A (p.Met2222Lys) | |
| X | g.154860563T>A | CA414904482 | F8 | c.6769A>T (p.Met2257Leu) c.502A>T (p.Met168Leu) c.364A>T (p.Met122Leu) c.6664A>T (p.Met2222Leu) | |
| X | g.154860563T>C | CA343869 | F8 | c.6769A>G (p.Met2257Val) c.502A>G (p.Met168Val) c.364A>G (p.Met122Val) c.6664A>G (p.Met2222Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.154860563T>G | CA414904508 | F8 | c.6769A>C (p.Met2257Leu) c.502A>C (p.Met168Leu) c.364A>C (p.Met122Leu) c.6664A>C (p.Met2222Leu) | |
| X | g.154860563T= | CA2466815020 | F8 | c.6769A= (p.Met2257=) c.502A= (p.Met168=) c.364A= (p.Met122=) c.6664A= (p.Met2222=) | |
| X | g.154860564T>A | CA519356257 | F8 | c.6768A>T (p.Thr2256=) c.501A>T (p.Thr167=) c.363A>T (p.Thr121=) c.6663A>T (p.Thr2221=) | |
| X | g.154860564T>C | CA519356258 | F8 | c.6768A>G (p.Thr2256=) c.501A>G (p.Thr167=) c.363A>G (p.Thr121=) c.6663A>G (p.Thr2221=) | |
| X | g.154860564T>G | CA519356260 | F8 | c.6768A>C (p.Thr2256=) c.501A>C (p.Thr167=) c.363A>C (p.Thr121=) c.6663A>C (p.Thr2221=) | |
| X | g.154860565G>A | CA414904527 | F8 | c.6767C>T (p.Thr2256Ile) c.500C>T (p.Thr167Ile) c.362C>T (p.Thr121Ile) c.6662C>T (p.Thr2221Ile) | |
| X | g.154860565G>C | CA414904534 | F8 | c.6767C>G (p.Thr2256Arg) c.500C>G (p.Thr167Arg) c.362C>G (p.Thr121Arg) c.6662C>G (p.Thr2221Arg) | |
| X | g.154860565G>T | CA414904536 | F8 | c.6767C>A (p.Thr2256Lys) c.500C>A (p.Thr167Lys) c.362C>A (p.Thr121Lys) c.6662C>A (p.Thr2221Lys) | |
| X | g.154860566T>A | CA10567757 | F8 | c.6766A>T (p.Thr2256Ser) c.499A>T (p.Thr167Ser) c.361A>T (p.Thr121Ser) c.6661A>T (p.Thr2221Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154860566T>C | CA337325989 | F8 | c.6766A>G (p.Thr2256Ala) c.499A>G (p.Thr167Ala) c.361A>G (p.Thr121Ala) c.6661A>G (p.Thr2221Ala) | dbSNP |
| X | g.154860566T>G | CA414904541 | F8 | c.6766A>C (p.Thr2256Pro) c.499A>C (p.Thr167Pro) c.361A>C (p.Thr121Pro) c.6661A>C (p.Thr2221Pro) | |
| X | g.154860566T= | CA2466815021 | F8 | c.6766A= (p.Thr2256=) c.499A= (p.Thr167=) c.361A= (p.Thr121=) c.6661A= (p.Thr2221=) | |
| X | g.154860567C>A | CA414904544 | F8 | c.6765G>T (p.Lys2255Asn) c.498G>T (p.Lys166Asn) c.360G>T (p.Lys120Asn) c.6660G>T (p.Lys2220Asn) | |
| X | g.154860567C>G | CA414904547 | F8 | c.6765G>C (p.Lys2255Asn) c.498G>C (p.Lys166Asn) c.360G>C (p.Lys120Asn) c.6660G>C (p.Lys2220Asn) | |
| X | g.154860567C>T | CA519356262 | F8 | c.6765G>A (p.Lys2255=) c.498G>A (p.Lys166=) c.360G>A (p.Lys120=) c.6660G>A (p.Lys2220=) | |
| X | g.154860568T>A | CA414904564 | F8 | c.6764A>T (p.Lys2255Met) c.497A>T (p.Lys166Met) c.359A>T (p.Lys120Met) c.6659A>T (p.Lys2220Met) | |
| X | g.154860568T>C | CA414904554 | F8 | c.6764A>G (p.Lys2255Arg) c.497A>G (p.Lys166Arg) c.359A>G (p.Lys120Arg) c.6659A>G (p.Lys2220Arg) | |
| X | g.154860568T>G | CA414904556 | F8 | c.6764A>C (p.Lys2255Thr) c.497A>C (p.Lys166Thr) c.359A>C (p.Lys120Thr) c.6659A>C (p.Lys2220Thr) | |
| X | g.154860569T>A | CA414904572 | F8 | c.6763A>T (p.Lys2255Ter) c.496A>T (p.Lys166Ter) c.358A>T (p.Lys120Ter) c.6658A>T (p.Lys2220Ter) | |
| X | g.154860569T>C | CA414904576 | F8 | c.6763A>G (p.Lys2255Glu) c.496A>G (p.Lys166Glu) c.358A>G (p.Lys120Glu) c.6658A>G (p.Lys2220Glu) | |
| X | g.154860569T>G | CA414904586 | F8 | c.6763A>C (p.Lys2255Gln) c.496A>C (p.Lys166Gln) c.358A>C (p.Lys120Gln) c.6658A>C (p.Lys2220Gln) | |
| X | g.154860570C>A | CA414904596 | F8 | c.6762G>T (p.Gln2254His) c.495G>T (p.Gln165His) c.357G>T (p.Gln119His) c.6657G>T (p.Gln2219His) | |
| X | g.154860570C>G | CA414904600 | F8 | c.6762G>C (p.Gln2254His) c.495G>C (p.Gln165His) c.357G>C (p.Gln119His) c.6657G>C (p.Gln2219His) | |
| X | g.154860570C>T | CA519356265 | F8 | c.6762G>A (p.Gln2254=) c.495G>A (p.Gln165=) c.357G>A (p.Gln119=) c.6657G>A (p.Gln2219=) | gnomAD v4 |
| X | g.154860571T>A | CA414904605 | F8 | c.6761A>T (p.Gln2254Leu) c.494A>T (p.Gln165Leu) c.356A>T (p.Gln119Leu) c.6656A>T (p.Gln2219Leu) | |
| X | g.154860571T>C | CA414904606 | F8 | c.6761A>G (p.Gln2254Arg) c.494A>G (p.Gln165Arg) c.356A>G (p.Gln119Arg) c.6656A>G (p.Gln2219Arg) | |
| X | g.154860571T>G | CA414904609 | F8 | c.6761A>C (p.Gln2254Pro) c.494A>C (p.Gln165Pro) c.356A>C (p.Gln119Pro) c.6656A>C (p.Gln2219Pro) | |
| X | g.154860572G>A | CA414904613 | F8 | c.6760C>T (p.Gln2254Ter) c.493C>T (p.Gln165Ter) c.355C>T (p.Gln119Ter) c.6655C>T (p.Gln2219Ter) | |
| X | g.154860572G>C | CA414904619 | F8 | c.6760C>G (p.Gln2254Glu) c.493C>G (p.Gln165Glu) c.355C>G (p.Gln119Glu) c.6655C>G (p.Gln2219Glu) | |
| X | g.154860572G>T | CA414904625 | F8 | c.6760C>A (p.Gln2254Lys) c.493C>A (p.Gln165Lys) c.355C>A (p.Gln119Lys) c.6655C>A (p.Gln2219Lys) | |
| X | g.154860573del | CA2695237138 | F8 | c.6760del (p.Gln2254ArgfsTer4) c.493del (p.Gln165ArgfsTer4) c.355del (p.Gln119ArgfsTer4) c.6655del (p.Gln2219ArgfsTer4) | |
| X | g.154860573G>A | CA519356266 | F8 | c.6759C>T (p.Phe2253=) c.492C>T (p.Phe164=) c.354C>T (p.Phe118=) c.6654C>T (p.Phe2218=) | dbSNP |
| X | g.154860573G>C | CA414904628 | F8 | c.6759C>G (p.Phe2253Leu) c.492C>G (p.Phe164Leu) c.354C>G (p.Phe118Leu) c.6654C>G (p.Phe2218Leu) | |
| X | g.154860573G= | CA2466815022 | F8 | c.6759C= (p.Phe2253=) c.492C= (p.Phe164=) c.354C= (p.Phe118=) c.6654C= (p.Phe2218=) | |
| X | g.154860573G>T | CA414904630 | F8 | c.6759C>A (p.Phe2253Leu) c.492C>A (p.Phe164Leu) c.354C>A (p.Phe118Leu) c.6654C>A (p.Phe2218Leu) | |
| X | g.154860574A>C | CA414904636 | F8 | c.6758T>G (p.Phe2253Cys) c.491T>G (p.Phe164Cys) c.353T>G (p.Phe118Cys) c.6653T>G (p.Phe2218Cys) | |
| X | g.154860574A>G | CA414904642 | F8 | c.6758T>C (p.Phe2253Ser) c.491T>C (p.Phe164Ser) c.353T>C (p.Phe118Ser) c.6653T>C (p.Phe2218Ser) | |
| X | g.154860574A>T | CA414904646 | F8 | c.6758T>A (p.Phe2253Tyr) c.491T>A (p.Phe164Tyr) c.353T>A (p.Phe118Tyr) c.6653T>A (p.Phe2218Tyr) | |
| X | g.154860575A>C | CA414904652 | F8 | c.6757T>G (p.Phe2253Val) c.490T>G (p.Phe164Val) c.352T>G (p.Phe118Val) c.6652T>G (p.Phe2218Val) | |
| X | g.154860575A>G | CA414904654 | F8 | c.6757T>C (p.Phe2253Leu) c.490T>C (p.Phe164Leu) c.352T>C (p.Phe118Leu) c.6652T>C (p.Phe2218Leu) | |
| X | g.154860575A>T | CA414904658 | F8 | c.6757T>A (p.Phe2253Ile) c.490T>A (p.Phe164Ile) c.352T>A (p.Phe118Ile) c.6652T>A (p.Phe2218Ile) | |
| X | g.154860576G>A | CA519356267 | F8 | c.6756C>T (p.Asp2252=) c.489C>T (p.Asp163=) c.351C>T (p.Asp117=) c.6651C>T (p.Asp2217=) | |
| X | g.154860576G>C | CA414904662 | F8 | c.6756C>G (p.Asp2252Glu) c.489C>G (p.Asp163Glu) c.351C>G (p.Asp117Glu) c.6651C>G (p.Asp2217Glu) | |
| X | g.154860576G>T | CA414904663 | F8 | c.6756C>A (p.Asp2252Glu) c.489C>A (p.Asp163Glu) c.351C>A (p.Asp117Glu) c.6651C>A (p.Asp2217Glu) | |
| X | g.154860577T>A | CA414904667 | F8 | c.6755A>T (p.Asp2252Val) c.488A>T (p.Asp163Val) c.350A>T (p.Asp117Val) c.6650A>T (p.Asp2217Val) | |
| X | g.154860577T>C | CA414904670 | F8 | c.6755A>G (p.Asp2252Gly) c.488A>G (p.Asp163Gly) c.350A>G (p.Asp117Gly) c.6650A>G (p.Asp2217Gly) | |
| X | g.154860577T>G | CA414904672 | F8 | c.6755A>C (p.Asp2252Ala) c.488A>C (p.Asp163Ala) c.350A>C (p.Asp117Ala) c.6650A>C (p.Asp2217Ala) | |
| X | g.154860578C>A | CA414904680 | F8 | c.6754G>T (p.Asp2252Tyr) c.487G>T (p.Asp163Tyr) c.349G>T (p.Asp117Tyr) c.6649G>T (p.Asp2217Tyr) | |
| X | g.154860578C= | CA2466815023 | F8 | c.6754G= (p.Asp2252=) c.487G= (p.Asp163=) c.349G= (p.Asp117=) c.6649G= (p.Asp2217=) | |
| X | g.154860578C>G | CA414904678 | F8 | c.6754G>C (p.Asp2252His) c.487G>C (p.Asp163His) c.349G>C (p.Asp117His) c.6649G>C (p.Asp2217His) | ClinVar dbSNP |
| X | g.154860578C>T | CA414904675 | F8 | c.6754G>A (p.Asp2252Asn) c.487G>A (p.Asp163Asn) c.349G>A (p.Asp117Asn) c.6649G>A (p.Asp2217Asn) | |
| X | g.154860579C>A | CA519356268 | F8 | c.6753G>T (p.Val2251=) c.486G>T (p.Val162=) c.348G>T (p.Val116=) c.6648G>T (p.Val2216=) | |
| X | g.154860579C>G | CA519356269 | F8 | c.6753G>C (p.Val2251=) c.486G>C (p.Val162=) c.348G>C (p.Val116=) c.6648G>C (p.Val2216=) | |
| X | g.154860579C>T | CA519356270 | F8 | c.6753G>A (p.Val2251=) c.486G>A (p.Val162=) c.348G>A (p.Val116=) c.6648G>A (p.Val2216=) | |
| X | g.154860580A= | CA2466815024 | F8 | c.6752T= (p.Val2251=) c.485T= (p.Val162=) c.347T= (p.Val116=) c.6647T= (p.Val2216=) | |
| X | g.154860580A>C | CA414904683 | F8 | c.6752T>G (p.Val2251Gly) c.485T>G (p.Val162Gly) c.347T>G (p.Val116Gly) c.6647T>G (p.Val2216Gly) | |
| X | g.154860580A>G | CA10567758 | F8 | c.6752T>C (p.Val2251Ala) c.485T>C (p.Val162Ala) c.347T>C (p.Val116Ala) c.6647T>C (p.Val2216Ala) | dbSNP ExAC |
| X | g.154860580A>T | CA414904689 | F8 | c.6752T>A (p.Val2251Glu) c.485T>A (p.Val162Glu) c.347T>A (p.Val116Glu) c.6647T>A (p.Val2216Glu) | dbSNP |
| X | g.154860581C>A | CA414904693 | F8 | c.6751G>T (p.Val2251Leu) c.484G>T (p.Val162Leu) c.346G>T (p.Val116Leu) c.6646G>T (p.Val2216Leu) | |
| X | g.154860581C= | CA2466815025 | F8 | c.6751G= (p.Val2251=) c.484G= (p.Val162=) c.346G= (p.Val116=) c.6646G= (p.Val2216=) | |
| X | g.154860581C>G | CA414904701 | F8 | c.6751G>C (p.Val2251Leu) c.484G>C (p.Val162Leu) c.346G>C (p.Val116Leu) c.6646G>C (p.Val2216Leu) | |
| X | g.154860581C>T | CA414904704 | F8 | c.6751G>A (p.Val2251Met) c.484G>A (p.Val162Met) c.346G>A (p.Val116Met) c.6646G>A (p.Val2216Met) | ClinVar dbSNP |
| X | g.154860582T>A | CA414904709 | F8 | c.6750A>T (p.Gln2250His) c.483A>T (p.Gln161His) c.345A>T (p.Gln115His) c.6645A>T (p.Gln2215His) | |
| X | g.154860582T>C | CA519356271 | F8 | c.6750A>G (p.Gln2250=) c.483A>G (p.Gln161=) c.345A>G (p.Gln115=) c.6645A>G (p.Gln2215=) | gnomAD v4 |
| X | g.154860582T>G | CA414904711 | F8 | c.6750A>C (p.Gln2250His) c.483A>C (p.Gln161His) c.345A>C (p.Gln115His) c.6645A>C (p.Gln2215His) | |
| X | g.154860583T>A | CA414904715 | F8 | c.6749A>T (p.Gln2250Leu) c.482A>T (p.Gln161Leu) c.344A>T (p.Gln115Leu) c.6644A>T (p.Gln2215Leu) | |
| X | g.154860583T>C | CA414904718 | F8 | c.6749A>G (p.Gln2250Arg) c.482A>G (p.Gln161Arg) c.344A>G (p.Gln115Arg) c.6644A>G (p.Gln2215Arg) | |
| X | g.154860583T>G | CA414904721 | F8 | c.6749A>C (p.Gln2250Pro) c.482A>C (p.Gln161Pro) c.344A>C (p.Gln115Pro) c.6644A>C (p.Gln2215Pro) | |
| X | g.154860584G>A | CA414904723 | F8 | c.6748C>T (p.Gln2250Ter) c.481C>T (p.Gln161Ter) c.343C>T (p.Gln115Ter) c.6643C>T (p.Gln2215Ter) | |
| X | g.154860584G>C | CA10567759 | F8 | c.6748C>G (p.Gln2250Glu) c.481C>G (p.Gln161Glu) c.343C>G (p.Gln115Glu) c.6643C>G (p.Gln2215Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154860584G= | CA2466815026 | F8 | c.6748C= (p.Gln2250=) c.481C= (p.Gln161=) c.343C= (p.Gln115=) c.6643C= (p.Gln2215=) | |
| X | g.154860584G>T | CA414904726 | F8 | c.6748C>A (p.Gln2250Lys) c.481C>A (p.Gln161Lys) c.343C>A (p.Gln115Lys) c.6643C>A (p.Gln2215Lys) | |
| X | g.154860585del | CA2739290593 | F8 | c.6747del (p.Gln2250LysfsTer8) c.480del (p.Gln161LysfsTer8) c.342del (p.Gln115LysfsTer8) c.6642del (p.Gln2215LysfsTer8) | |
| X | g.154860585C>A | CA519356274 | F8 | c.6747G>T (p.Leu2249=) c.480G>T (p.Leu160=) c.342G>T (p.Leu114=) c.6642G>T (p.Leu2214=) | |
| X | g.154860585C= | CA2466815027 | F8 | c.6747G= (p.Leu2249=) c.480G= (p.Leu160=) c.342G= (p.Leu114=) c.6642G= (p.Leu2214=) | |
| X | g.154860585C>G | CA519356273 | F8 | c.6747G>C (p.Leu2249=) c.480G>C (p.Leu160=) c.342G>C (p.Leu114=) c.6642G>C (p.Leu2214=) | |
| X | g.154860585C>T | CA519356272 | F8 | c.6747G>A (p.Leu2249=) c.480G>A (p.Leu160=) c.342G>A (p.Leu114=) c.6642G>A (p.Leu2214=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154860586A>C | CA414904730 | F8 | c.6746T>G (p.Leu2249Arg) c.479T>G (p.Leu160Arg) c.341T>G (p.Leu114Arg) c.6641T>G (p.Leu2214Arg) | |
| X | g.154860586A>G | CA414904733 | F8 | c.6746T>C (p.Leu2249Pro) c.479T>C (p.Leu160Pro) c.341T>C (p.Leu114Pro) c.6641T>C (p.Leu2214Pro) | |
| X | g.154860586A>T | CA414904731 | F8 | c.6746T>A (p.Leu2249Gln) c.479T>A (p.Leu160Gln) c.341T>A (p.Leu114Gln) c.6641T>A (p.Leu2214Gln) | |
| X | g.154860586dup | CA2695237139 | F8 | c.6746dup (p.Gln2250AlafsTer?) c.479dup (p.Gln161AlafsTer?) c.341dup (p.Gln115AlafsTer?) c.6641dup (p.Gln2215AlafsTer?) | |
| X | g.154860587G>A | CA519356275 | F8 | c.6745C>T (p.Leu2249=) c.478C>T (p.Leu160=) c.340C>T (p.Leu114=) c.6640C>T (p.Leu2214=) | |
| X | g.154860587G>C | CA414904735 | F8 | c.6745C>G (p.Leu2249Val) c.478C>G (p.Leu160Val) c.340C>G (p.Leu114Val) c.6640C>G (p.Leu2214Val) | |
| X | g.154860587G>T | CA414904737 | F8 | c.6745C>A (p.Leu2249Met) c.478C>A (p.Leu160Met) c.340C>A (p.Leu114Met) c.6640C>A (p.Leu2214Met) | |
| X | g.154860588C>A | CA255218 | F8 | c.6744G>T (p.Trp2248Cys) c.477G>T (p.Trp159Cys) c.339G>T (p.Trp113Cys) c.6639G>T (p.Trp2213Cys) | ClinVar dbSNP gnomAD v4 |
| X | g.154860588C= | CA2466815028 | F8 | c.6744G= (p.Trp2248=) c.477G= (p.Trp159=) c.339G= (p.Trp113=) c.6639G= (p.Trp2213=) | |
| X | g.154860588C>G | CA414904744 | F8 | c.6744G>C (p.Trp2248Cys) c.477G>C (p.Trp159Cys) c.339G>C (p.Trp113Cys) c.6639G>C (p.Trp2213Cys) | |
| X | g.154860588C>T | CA414904746 | F8 | c.6744G>A (p.Trp2248Ter) c.477G>A (p.Trp159Ter) c.339G>A (p.Trp113Ter) c.6639G>A (p.Trp2213Ter) | |
| X | g.154860589C>A | CA414904747 | F8 | c.6743G>T (p.Trp2248Leu) c.476G>T (p.Trp159Leu) c.338G>T (p.Trp113Leu) c.6638G>T (p.Trp2213Leu) | COSMIC COSMIC |
| X | g.154860589C= | CA2466815029 | F8 | c.6743G= (p.Trp2248=) c.476G= (p.Trp159=) c.338G= (p.Trp113=) c.6638G= (p.Trp2213=) | |
| X | g.154860589C>G | CA414904748 | F8 | c.6743G>C (p.Trp2248Ser) c.476G>C (p.Trp159Ser) c.338G>C (p.Trp113Ser) c.6638G>C (p.Trp2213Ser) | |
| X | g.154860589C>T | CA414904750 | F8 | c.6743G>A (p.Trp2248Ter) c.476G>A (p.Trp159Ter) c.338G>A (p.Trp113Ter) c.6638G>A (p.Trp2213Ter) | dbSNP |
| X | g.154860590A= | CA2466815030 | F8 | c.6742T= (p.Trp2248=) c.475T= (p.Trp159=) c.337T= (p.Trp113=) c.6637T= (p.Trp2213=) | |
| X | g.154860590A>C | CA414904768 | F8 | c.6742T>G (p.Trp2248Gly) c.475T>G (p.Trp159Gly) c.337T>G (p.Trp113Gly) c.6637T>G (p.Trp2213Gly) | ClinVar |
| X | g.154860590A>G | CA414904765 | F8 | c.6742T>C (p.Trp2248Arg) c.475T>C (p.Trp159Arg) c.337T>C (p.Trp113Arg) c.6637T>C (p.Trp2213Arg) | |
| X | g.154860590A>T | CA414904758 | F8 | c.6742T>A (p.Trp2248Arg) c.475T>A (p.Trp159Arg) c.337T>A (p.Trp113Arg) c.6637T>A (p.Trp2213Arg) | dbSNP |
| X | g.154860590dup | CA873368512 | F8 | c.6742dup (p.Trp2248LeufsTer?) c.475dup (p.Trp159LeufsTer?) c.337dup (p.Trp113LeufsTer?) c.6637dup (p.Trp2213LeufsTer?) | dbSNP |