Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94619206A= | CA2156074032 | SERPINA3 | c.655A= (p.Met219=) c.1A= (p.Met1=) c.1618A= n.58-3135A= c.644-3135A= (n.644-3135A=) | |
14 | g.94619206A>C | CA390855369 | SERPINA3 | c.655A>C (p.Met219Leu) c.1A>C (p.Met1Leu) c.1618A>C n.58-3135A>C c.644-3135A>C (n.644-3135A>C) | |
14 | g.94619206A>G | CA390855371 | SERPINA3 | c.655A>G (p.Met219Val) c.1A>G (p.Met1Val) c.1618A>G n.58-3135A>G c.644-3135A>G (n.644-3135A>G) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619206A>T | CA390855372 | SERPINA3 | c.655A>T (p.Met219Leu) c.1A>T (p.Met1Leu) c.1618A>T n.58-3135A>T c.644-3135A>T (n.644-3135A>T) | |
14 | g.94619207T>A | CA390855375 | SERPINA3 | c.656T>A (p.Met219Lys) c.2T>A (p.Met1Lys) c.1619T>A n.58-3134T>A c.644-3134T>A (n.644-3134T>A) | |
14 | g.94619207T>C | CA390855377 | SERPINA3 | c.656T>C (p.Met219Thr) c.2T>C (p.Met1Thr) c.1619T>C n.58-3134T>C c.644-3134T>C (n.644-3134T>C) | |
14 | g.94619207T>G | CA390855379 | SERPINA3 | c.656T>G (p.Met219Arg) c.2T>G (p.Met1Arg) c.1619T>G n.58-3134T>G c.644-3134T>G (n.644-3134T>G) | |
14 | g.94619208G>A | CA265884733 | SERPINA3 | c.657G>A (p.Met219Ile) c.3G>A (p.Met1Ile) c.1620G>A n.58-3133G>A c.644-3133G>A (n.644-3133G>A) | dbSNP gnomAD v4 |
14 | g.94619208G>C | CA390855384 | SERPINA3 | c.657G>C (p.Met219Ile) c.3G>C (p.Met1Ile) c.1620G>C n.58-3133G>C c.644-3133G>C (n.644-3133G>C) | |
14 | g.94619208G= | CA2156074033 | SERPINA3 | c.657G= (p.Met219=) c.3G= (p.Met1=) c.1620G= n.58-3133G= c.644-3133G= (n.644-3133G=) | |
14 | g.94619208G>T | CA390855382 | SERPINA3 | c.657G>T (p.Met219Ile) c.3G>T (p.Met1Ile) c.1620G>T n.58-3133G>T c.644-3133G>T (n.644-3133G>T) | gnomAD v4 |
14 | g.94619209C>A | CA390855388 | SERPINA3 | c.658C>A (p.Pro220Thr) c.4C>A (p.Pro2Thr) c.1621C>A n.58-3132C>A c.644-3132C>A (n.644-3132C>A) | gnomAD v4 |
14 | g.94619209C>G | CA390855392 | SERPINA3 | c.658C>G (p.Pro220Ala) c.4C>G (p.Pro2Ala) c.1621C>G n.58-3132C>G c.644-3132C>G (n.644-3132C>G) | |
14 | g.94619209C>T | CA390855389 | SERPINA3 | c.658C>T (p.Pro220Ser) c.4C>T (p.Pro2Ser) c.1621C>T n.58-3132C>T c.644-3132C>T (n.644-3132C>T) | |
14 | g.94619209_94619216delinsCCCTTTGA | CA2156074034 | SERPINA3 | c.658_665delinsCCCTTTGA (p.Pro220=) c.4_11delinsCCCTTTGA (p.Pro2=) c.1621_1628delinsCCCTTTGA n.58-3132_58-3125delinsCCCTTTGA c.644-3132_644-3125delinsCCCTTTGA (n.644-3132_644-3125delinsCCCTTTGA) | |
14 | g.94619210C>A | CA390855396 | SERPINA3 | c.659C>A (p.Pro220His) c.5C>A (p.Pro2His) c.1622C>A n.58-3131C>A c.644-3131C>A (n.644-3131C>A) | gnomAD v4 |
14 | g.94619210C= | CA2156074035 | SERPINA3 | c.659C= (p.Pro220=) c.5C= (p.Pro2=) c.1622C= n.58-3131C= c.644-3131C= (n.644-3131C=) | |
14 | g.94619210C>G | CA390855398 | SERPINA3 | c.659C>G (p.Pro220Arg) c.5C>G (p.Pro2Arg) c.1622C>G n.58-3131C>G c.644-3131C>G (n.644-3131C>G) | |
14 | g.94619210C>T | CA7329857 | SERPINA3 | c.659C>T (p.Pro220Leu) c.5C>T (p.Pro2Leu) c.1622C>T n.58-3131C>T c.644-3131C>T (n.644-3131C>T) | dbSNP ExAC gnomAD v2 |
14 | g.94619212_94619218del | CA265884736 | SERPINA3 | c.661_667del (p.Phe221ProfsTer11) c.7_13del (p.Phe3ProfsTer11) c.1624_1630del n.58-3129_58-3123del c.644-3129_644-3123del (n.644-3129_644-3123del) | dbSNP |
14 | g.94619211C>A | CA487625171 | SERPINA3 | c.660C>A (p.Pro220=) c.6C>A (p.Pro2=) c.1623C>A n.58-3130C>A c.644-3130C>A (n.644-3130C>A) | |
14 | g.94619211C= | CA2156074036 | SERPINA3 | c.660C= (p.Pro220=) c.6C= (p.Pro2=) c.1623C= n.58-3130C= c.644-3130C= (n.644-3130C=) | |
14 | g.94619211C>G | CA487625172 | SERPINA3 | c.660C>G (p.Pro220=) c.6C>G (p.Pro2=) c.1623C>G n.58-3130C>G c.644-3130C>G (n.644-3130C>G) | dbSNP gnomAD v4 |
14 | g.94619211C>T | CA265884748 | SERPINA3 | c.660C>T (p.Pro220=) c.6C>T (p.Pro2=) c.1623C>T n.58-3130C>T c.644-3130C>T (n.644-3130C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619211_94619212insCCCAAGA | CA7329858 | SERPINA3 | c.660_661insCCCAAGA (p.Phe221ProfsTer4) c.6_7insCCCAAGA (p.Phe3ProfsTer4) c.1623_1624insCCCAAGA n.58-3130_58-3129insCCCAAGA c.644-3130_644-3129insCCCAAGA (n.644-3130_644-3129insCCCAAGA) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619211_94619212insCCCAAGATACTCATCA | CA487625173 | SERPINA3 | c.660_661insCCCAAGATACTCATCA (p.Phe221ProfsTer7) c.6_7insCCCAAGATACTCATCA (p.Phe3ProfsTer7) c.1623_1624insCCCAAGATACTCATCA n.58-3130_58-3129insCCCAAGATACTCATCA c.644-3130_644-3129insCCCAAGATACTCATCA (n.644-3130_644-3129insCCCAAGATACTCATCA) | dbSNP |
14 | g.94619212T>A | CA390855404 | SERPINA3 | c.661T>A (p.Phe221Ile) c.7T>A (p.Phe3Ile) c.1624T>A n.58-3129T>A c.644-3129T>A (n.644-3129T>A) | dbSNP |
14 | g.94619212T>C | CA390855406 | SERPINA3 | c.661T>C (p.Phe221Leu) c.7T>C (p.Phe3Leu) c.1624T>C n.58-3129T>C c.644-3129T>C (n.644-3129T>C) | |
14 | g.94619212T>G | CA390855408 | SERPINA3 | c.661T>G (p.Phe221Val) c.7T>G (p.Phe3Val) c.1624T>G n.58-3129T>G c.644-3129T>G (n.644-3129T>G) | dbSNP |
14 | g.94619212T= | CA2156074037 | SERPINA3 | c.661T= (p.Phe221=) c.7T= (p.Phe3=) c.1624T= n.58-3129T= c.644-3129T= (n.644-3129T=) | |
14 | g.94619212_94619213insAC | CA7329859 | SERPINA3 | c.661_662insAC (p.Phe221TyrfsTer14) c.7_8insAC (p.Phe3TyrfsTer14) c.1624_1625insAC n.58-3129_58-3128insAC c.644-3129_644-3128insAC (n.644-3129_644-3128insAC) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619213T>A | CA390855417 | SERPINA3 | c.662T>A (p.Phe221Tyr) c.8T>A (p.Phe3Tyr) c.1625T>A n.58-3128T>A c.644-3128T>A (n.644-3128T>A) | dbSNP |
14 | g.94619213T>C | CA390855414 | SERPINA3 | c.662T>C (p.Phe221Ser) c.8T>C (p.Phe3Ser) c.1625T>C n.58-3128T>C c.644-3128T>C (n.644-3128T>C) | |
14 | g.94619213T>G | CA390855412 | SERPINA3 | c.662T>G (p.Phe221Cys) c.8T>G (p.Phe3Cys) c.1625T>G n.58-3128T>G c.644-3128T>G (n.644-3128T>G) | dbSNP gnomAD v4 |
14 | g.94619213T= | CA2156074038 | SERPINA3 | c.662T= (p.Phe221=) c.8T= (p.Phe3=) c.1625T= n.58-3128T= c.644-3128T= (n.644-3128T=) | |
14 | g.94619213_94619214insCATCAGA | CA7329860 | SERPINA3 | c.662_663insCATCAGA (p.Asp222IlefsTer3) c.8_9insCATCAGA (p.Asp4IlefsTer3) c.1625_1626insCATCAGA n.58-3128_58-3127insCATCAGA c.644-3128_644-3127insCATCAGA (n.644-3128_644-3127insCATCAGA) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619214T>A | CA390855420 | SERPINA3 | c.663T>A (p.Phe221Leu) c.9T>A (p.Phe3Leu) c.1626T>A n.58-3127T>A c.644-3127T>A (n.644-3127T>A) | |
14 | g.94619214T>C | CA487625174 | SERPINA3 | c.663T>C (p.Phe221=) c.9T>C (p.Phe3=) c.1626T>C n.58-3127T>C c.644-3127T>C (n.644-3127T>C) | |
14 | g.94619214T>G | CA390855422 | SERPINA3 | c.663T>G (p.Phe221Leu) c.9T>G (p.Phe3Leu) c.1626T>G n.58-3127T>G c.644-3127T>G (n.644-3127T>G) | gnomAD v4 |
14 | g.94619215G>A | CA390855425 | SERPINA3 | c.664G>A (p.Asp222Asn) c.10G>A (p.Asp4Asn) c.1627G>A n.58-3126G>A c.644-3126G>A (n.644-3126G>A) | |
14 | g.94619215G>C | CA390855427 | SERPINA3 | c.664G>C (p.Asp222His) c.10G>C (p.Asp4His) c.1627G>C n.58-3126G>C c.644-3126G>C (n.644-3126G>C) | |
14 | g.94619215G>T | CA390855429 | SERPINA3 | c.664G>T (p.Asp222Tyr) c.10G>T (p.Asp4Tyr) c.1627G>T n.58-3126G>T c.644-3126G>T (n.644-3126G>T) | |
14 | g.94619216A= | CA2156074039 | SERPINA3 | c.665A= (p.Asp222=) c.11A= (p.Asp4=) c.1628A= n.58-3125A= c.644-3125A= (n.644-3125A=) | |
14 | g.94619216A>C | CA390855432 | SERPINA3 | c.665A>C (p.Asp222Ala) c.11A>C (p.Asp4Ala) c.1628A>C n.58-3125A>C c.644-3125A>C (n.644-3125A>C) | |
14 | g.94619216A>G | CA390855433 | SERPINA3 | c.665A>G (p.Asp222Gly) c.11A>G (p.Asp4Gly) c.1628A>G n.58-3125A>G c.644-3125A>G (n.644-3125A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619216A>T | CA390855435 | SERPINA3 | c.665A>T (p.Asp222Val) c.11A>T (p.Asp4Val) c.1628A>T n.58-3125A>T c.644-3125A>T (n.644-3125A>T) | |
14 | g.94619217C>A | CA7329861 | SERPINA3 | c.666C>A (p.Asp222Glu) c.12C>A (p.Asp4Glu) c.1629C>A n.58-3124C>A c.644-3124C>A (n.644-3124C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619217C= | CA2156074040 | SERPINA3 | c.666C= (p.Asp222=) c.12C= (p.Asp4=) c.1629C= n.58-3124C= c.644-3124C= (n.644-3124C=) | |
14 | g.94619217C>G | CA390855439 | SERPINA3 | c.666C>G (p.Asp222Glu) c.12C>G (p.Asp4Glu) c.1629C>G n.58-3124C>G c.644-3124C>G (n.644-3124C>G) | |
14 | g.94619217C>T | CA487625175 | SERPINA3 | c.666C>T (p.Asp222=) c.12C>T (p.Asp4=) c.1629C>T n.58-3124C>T c.644-3124C>T (n.644-3124C>T) | gnomAD v4 |
14 | g.94619220_94619221dup | CA2802669929 | SERPINA3 | c.669_670dup (p.Gln224ProfsTer11) c.15_16dup (p.Gln6ProfsTer11) c.1632_1633dup n.58-3121_58-3120dup c.644-3121_644-3120dup (n.644-3121_644-3120dup) | |
14 | g.94619221del | CA645581951 | SERPINA3 | c.670del (p.Gln224LysfsTer10) c.16del (p.Gln6LysfsTer10) c.1633del n.58-3120del c.644-3120del (n.644-3120del) | COSMIC COSMIC |
14 | g.94619218C>A | CA390855443 | SERPINA3 | c.667C>A (p.Pro223Thr) c.13C>A (p.Pro5Thr) c.1630C>A n.58-3123C>A c.644-3123C>A (n.644-3123C>A) | gnomAD v4 |
14 | g.94619218C= | CA2156074041 | SERPINA3 | c.667C= (p.Pro223=) c.13C= (p.Pro5=) c.1630C= n.58-3123C= c.644-3123C= (n.644-3123C=) | |
14 | g.94619218C>G | CA390855450 | SERPINA3 | c.667C>G (p.Pro223Ala) c.13C>G (p.Pro5Ala) c.1630C>G n.58-3123C>G c.644-3123C>G (n.644-3123C>G) | |
14 | g.94619218C>T | CA265884809 | SERPINA3 | c.667C>T (p.Pro223Ser) c.13C>T (p.Pro5Ser) c.1630C>T n.58-3123C>T c.644-3123C>T (n.644-3123C>T) | dbSNP gnomAD v4 |
14 | g.94619219C>A | CA390855453 | SERPINA3 | c.668C>A (p.Pro223His) c.14C>A (p.Pro5His) c.1631C>A n.58-3122C>A c.644-3122C>A (n.644-3122C>A) | gnomAD v4 |
14 | g.94619219C= | CA2156074042 | SERPINA3 | c.668C= (p.Pro223=) c.14C= (p.Pro5=) c.1631C= n.58-3122C= c.644-3122C= (n.644-3122C=) | |
14 | g.94619219C>G | CA390855456 | SERPINA3 | c.668C>G (p.Pro223Arg) c.14C>G (p.Pro5Arg) c.1631C>G n.58-3122C>G c.644-3122C>G (n.644-3122C>G) | gnomAD v4 |
14 | g.94619219C>T | CA7329862 | SERPINA3 | c.668C>T (p.Pro223Leu) c.14C>T (p.Pro5Leu) c.1631C>T n.58-3122C>T c.644-3122C>T (n.644-3122C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619220C>A | CA487625176 | SERPINA3 | c.669C>A (p.Pro223=) c.15C>A (p.Pro5=) c.1632C>A n.58-3121C>A c.644-3121C>A (n.644-3121C>A) | |
14 | g.94619220C>G | CA487625177 | SERPINA3 | c.669C>G (p.Pro223=) c.15C>G (p.Pro5=) c.1632C>G n.58-3121C>G c.644-3121C>G (n.644-3121C>G) | |
14 | g.94619220C>T | CA487625178 | SERPINA3 | c.669C>T (p.Pro223=) c.15C>T (p.Pro5=) c.1632C>T n.58-3121C>T c.644-3121C>T (n.644-3121C>T) | gnomAD v4 |
14 | g.94619221C>A | CA390855460 | SERPINA3 | c.670C>A (p.Gln224Lys) c.16C>A (p.Gln6Lys) c.1633C>A n.58-3120C>A c.644-3120C>A (n.644-3120C>A) | gnomAD v4 |
14 | g.94619221C>G | CA390855462 | SERPINA3 | c.670C>G (p.Gln224Glu) c.16C>G (p.Gln6Glu) c.1633C>G n.58-3120C>G c.644-3120C>G (n.644-3120C>G) | |
14 | g.94619221C>T | CA390855463 | SERPINA3 | c.670C>T (p.Gln224Ter) c.16C>T (p.Gln6Ter) c.1633C>T n.58-3120C>T c.644-3120C>T (n.644-3120C>T) | |
14 | g.94619222A>C | CA390855469 | SERPINA3 | c.671A>C (p.Gln224Pro) c.17A>C (p.Gln6Pro) c.1634A>C n.58-3119A>C c.644-3119A>C (n.644-3119A>C) | |
14 | g.94619222A>G | CA390855466 | SERPINA3 | c.671A>G (p.Gln224Arg) c.17A>G (p.Gln6Arg) c.1634A>G n.58-3119A>G c.644-3119A>G (n.644-3119A>G) | |
14 | g.94619222A>T | CA390855468 | SERPINA3 | c.671A>T (p.Gln224Leu) c.17A>T (p.Gln6Leu) c.1634A>T n.58-3119A>T c.644-3119A>T (n.644-3119A>T) | |
14 | g.94619223A>C | CA390855472 | SERPINA3 | c.672A>C (p.Gln224His) c.18A>C (p.Gln6His) c.1635A>C n.58-3118A>C c.644-3118A>C (n.644-3118A>C) | |
14 | g.94619223A>G | CA487625179 | SERPINA3 | c.672A>G (p.Gln224=) c.18A>G (p.Gln6=) c.1635A>G n.58-3118A>G c.644-3118A>G (n.644-3118A>G) | |
14 | g.94619223A>T | CA390855474 | SERPINA3 | c.672A>T (p.Gln224His) c.18A>T (p.Gln6His) c.1635A>T n.58-3118A>T c.644-3118A>T (n.644-3118A>T) | |
14 | g.94619224G>A | CA390855476 | SERPINA3 | c.673G>A (p.Asp225Asn) c.19G>A (p.Asp7Asn) c.1636G>A n.58-3117G>A c.644-3117G>A (n.644-3117G>A) | |
14 | g.94619224G>C | CA7329863 | SERPINA3 | c.673G>C (p.Asp225His) c.19G>C (p.Asp7His) c.1636G>C n.58-3117G>C c.644-3117G>C (n.644-3117G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619224G= | CA2156074043 | SERPINA3 | c.673G= (p.Asp225=) c.19G= (p.Asp7=) c.1636G= n.58-3117G= c.644-3117G= (n.644-3117G=) | |
14 | g.94619224G>T | CA390855479 | SERPINA3 | c.673G>T (p.Asp225Tyr) c.19G>T (p.Asp7Tyr) c.1636G>T n.58-3117G>T c.644-3117G>T (n.644-3117G>T) | |
14 | g.94619225A>C | CA390855482 | SERPINA3 | c.674A>C (p.Asp225Ala) c.20A>C (p.Asp7Ala) c.1637A>C n.58-3116A>C c.644-3116A>C (n.644-3116A>C) | |
14 | g.94619225A>G | CA390855486 | SERPINA3 | c.674A>G (p.Asp225Gly) c.20A>G (p.Asp7Gly) c.1637A>G n.58-3116A>G c.644-3116A>G (n.644-3116A>G) | |
14 | g.94619225A>T | CA390855483 | SERPINA3 | c.674A>T (p.Asp225Val) c.20A>T (p.Asp7Val) c.1637A>T n.58-3116A>T c.644-3116A>T (n.644-3116A>T) | |
14 | g.94619226T>A | CA390855488 | SERPINA3 | c.675T>A (p.Asp225Glu) c.21T>A (p.Asp7Glu) c.1638T>A n.58-3115T>A c.644-3115T>A (n.644-3115T>A) | |
14 | g.94619226T>C | CA265884862 | SERPINA3 | c.675T>C (p.Asp225=) c.21T>C (p.Asp7=) c.1638T>C n.58-3115T>C c.644-3115T>C (n.644-3115T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619226T>G | CA390855490 | SERPINA3 | c.675T>G (p.Asp225Glu) c.21T>G (p.Asp7Glu) c.1638T>G n.58-3115T>G c.644-3115T>G (n.644-3115T>G) | |
14 | g.94619226T= | CA2156074044 | SERPINA3 | c.675T= (p.Asp225=) c.21T= (p.Asp7=) c.1638T= n.58-3115T= c.644-3115T= (n.644-3115T=) | |
14 | g.94619227A>C | CA390855493 | SERPINA3 | c.676A>C (p.Thr226Pro) c.22A>C (p.Thr8Pro) c.1639A>C n.58-3114A>C c.644-3114A>C (n.644-3114A>C) | |
14 | g.94619227A>G | CA390855494 | SERPINA3 | c.676A>G (p.Thr226Ala) c.22A>G (p.Thr8Ala) c.1639A>G n.58-3114A>G c.644-3114A>G (n.644-3114A>G) | |
14 | g.94619227A>T | CA390855496 | SERPINA3 | c.676A>T (p.Thr226Ser) c.22A>T (p.Thr8Ser) c.1639A>T n.58-3114A>T c.644-3114A>T (n.644-3114A>T) | |
14 | g.94619228C>A | CA390855498 | SERPINA3 | c.677C>A (p.Thr226Asn) c.23C>A (p.Thr8Asn) c.1640C>A n.58-3113C>A c.644-3113C>A (n.644-3113C>A) | |
14 | g.94619228C= | CA2156074045 | SERPINA3 | c.677C= (p.Thr226=) c.23C= (p.Thr8=) c.1640C= n.58-3113C= c.644-3113C= (n.644-3113C=) | |
14 | g.94619228C>G | CA390855499 | SERPINA3 | c.677C>G (p.Thr226Ser) c.23C>G (p.Thr8Ser) c.1640C>G n.58-3113C>G c.644-3113C>G (n.644-3113C>G) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619228C>T | CA390855501 | SERPINA3 | c.677C>T (p.Thr226Ile) c.23C>T (p.Thr8Ile) c.1640C>T n.58-3113C>T c.644-3113C>T (n.644-3113C>T) | gnomAD v4 |
14 | g.94619229T>A | CA487625180 | SERPINA3 | c.678T>A (p.Thr226=) c.24T>A (p.Thr8=) c.1641T>A n.58-3112T>A c.644-3112T>A (n.644-3112T>A) | |
14 | g.94619229T>C | CA265884867 | SERPINA3 | c.678T>C (p.Thr226=) c.24T>C (p.Thr8=) c.1641T>C n.58-3112T>C c.644-3112T>C (n.644-3112T>C) | dbSNP |
14 | g.94619229T>G | CA487625181 | SERPINA3 | c.678T>G (p.Thr226=) c.24T>G (p.Thr8=) c.1641T>G n.58-3112T>G c.644-3112T>G (n.644-3112T>G) | |
14 | g.94619229T= | CA2156074046 | SERPINA3 | c.678T= (p.Thr226=) c.24T= (p.Thr8=) c.1641T= n.58-3112T= c.644-3112T= (n.644-3112T=) | |
14 | g.94619230C>A | CA390855504 | SERPINA3 | c.679C>A (p.His227Asn) c.25C>A (p.His9Asn) c.1642C>A n.58-3111C>A c.644-3111C>A (n.644-3111C>A) | |
14 | g.94619230C= | CA2156074047 | SERPINA3 | c.679C= (p.His227=) c.25C= (p.His9=) c.1642C= n.58-3111C= c.644-3111C= (n.644-3111C=) | |
14 | g.94619230C>G | CA390855505 | SERPINA3 | c.679C>G (p.His227Asp) c.25C>G (p.His9Asp) c.1642C>G n.58-3111C>G c.644-3111C>G (n.644-3111C>G) | |
14 | g.94619230C>T | CA7329864 | SERPINA3 | c.679C>T (p.His227Tyr) c.25C>T (p.His9Tyr) c.1642C>T n.58-3111C>T c.644-3111C>T (n.644-3111C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619231A>C | CA390855512 | SERPINA3 | c.680A>C (p.His227Pro) c.26A>C (p.His9Pro) c.1643A>C n.58-3110A>C c.644-3110A>C (n.644-3110A>C) | |
14 | g.94619231A>G | CA390855510 | SERPINA3 | c.680A>G (p.His227Arg) c.26A>G (p.His9Arg) c.1643A>G n.58-3110A>G c.644-3110A>G (n.644-3110A>G) | |
14 | g.94619231A>T | CA390855508 | SERPINA3 | c.680A>T (p.His227Leu) c.26A>T (p.His9Leu) c.1643A>T n.58-3110A>T c.644-3110A>T (n.644-3110A>T) | |
14 | g.94619232T>A | CA390855514 | SERPINA3 | c.681T>A (p.His227Gln) c.27T>A (p.His9Gln) c.1644T>A n.58-3109T>A c.644-3109T>A (n.644-3109T>A) | |
14 | g.94619232T>C | CA487625182 | SERPINA3 | c.681T>C (p.His227=) c.27T>C (p.His9=) c.1644T>C n.58-3109T>C c.644-3109T>C (n.644-3109T>C) | |
14 | g.94619232T>G | CA390855516 | SERPINA3 | c.681T>G (p.His227Gln) c.27T>G (p.His9Gln) c.1644T>G n.58-3109T>G c.644-3109T>G (n.644-3109T>G) | |
14 | g.94619233C>A | CA390855518 | SERPINA3 | c.682C>A (p.Gln228Lys) c.28C>A (p.Gln10Lys) c.1645C>A n.58-3108C>A c.644-3108C>A (n.644-3108C>A) | |
14 | g.94619233C= | CA2156074048 | SERPINA3 | c.682C= (p.Gln228=) c.28C= (p.Gln10=) c.1645C= n.58-3108C= c.644-3108C= (n.644-3108C=) | |
14 | g.94619233C>G | CA390855519 | SERPINA3 | c.682C>G (p.Gln228Glu) c.28C>G (p.Gln10Glu) c.1645C>G n.58-3108C>G c.644-3108C>G (n.644-3108C>G) | |
14 | g.94619233C>T | CA390855521 | SERPINA3 | c.682C>T (p.Gln228Ter) c.28C>T (p.Gln10Ter) c.1645C>T n.58-3108C>T c.644-3108C>T (n.644-3108C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619234A= | CA2156074049 | SERPINA3 | c.683A= (p.Gln228=) c.29A= (p.Gln10=) c.1646A= n.58-3107A= c.644-3107A= (n.644-3107A=) | |
14 | g.94619234A>C | CA390855523 | SERPINA3 | c.683A>C (p.Gln228Pro) c.29A>C (p.Gln10Pro) c.1646A>C n.58-3107A>C c.644-3107A>C (n.644-3107A>C) | |
14 | g.94619234A>G | CA7329865 | SERPINA3 | c.683A>G (p.Gln228Arg) c.29A>G (p.Gln10Arg) c.1646A>G n.58-3107A>G c.644-3107A>G (n.644-3107A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619234A>T | CA390855526 | SERPINA3 | c.683A>T (p.Gln228Leu) c.29A>T (p.Gln10Leu) c.1646A>T n.58-3107A>T c.644-3107A>T (n.644-3107A>T) | |
14 | g.94619235G>A | CA487625183 | SERPINA3 | c.684G>A (p.Gln228=) c.30G>A (p.Gln10=) c.1647G>A n.58-3106G>A c.644-3106G>A (n.644-3106G>A) | |
14 | g.94619235G>C | CA7329866 | SERPINA3 | c.684G>C (p.Gln228His) c.30G>C (p.Gln10His) c.1647G>C n.58-3106G>C c.644-3106G>C (n.644-3106G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619235G= | CA2156074050 | SERPINA3 | c.684G= (p.Gln228=) c.30G= (p.Gln10=) c.1647G= n.58-3106G= c.644-3106G= (n.644-3106G=) | |
14 | g.94619235G>T | CA390855528 | SERPINA3 | c.684G>T (p.Gln228His) c.30G>T (p.Gln10His) c.1647G>T n.58-3106G>T c.644-3106G>T (n.644-3106G>T) | |
14 | g.94619236T>A | CA390855531 | SERPINA3 | c.685T>A (p.Ser229Thr) c.31T>A (p.Ser11Thr) c.1648T>A n.58-3105T>A c.644-3105T>A (n.644-3105T>A) | |
14 | g.94619236T>C | CA390855535 | SERPINA3 | c.685T>C (p.Ser229Pro) c.31T>C (p.Ser11Pro) c.1648T>C n.58-3105T>C c.644-3105T>C (n.644-3105T>C) | |
14 | g.94619236T>G | CA390855533 | SERPINA3 | c.685T>G (p.Ser229Ala) c.31T>G (p.Ser11Ala) c.1648T>G n.58-3105T>G c.644-3105T>G (n.644-3105T>G) | |
14 | g.94619237C>A | CA390855537 | SERPINA3 | c.686C>A (p.Ser229Ter) c.32C>A (p.Ser11Ter) c.1649C>A n.58-3104C>A c.644-3104C>A (n.644-3104C>A) | |
14 | g.94619237C>G | CA390855539 | SERPINA3 | c.686C>G (p.Ser229Ter) c.32C>G (p.Ser11Ter) c.1649C>G n.58-3104C>G c.644-3104C>G (n.644-3104C>G) | |
14 | g.94619237C>T | CA390855541 | SERPINA3 | c.686C>T (p.Ser229Leu) c.32C>T (p.Ser11Leu) c.1649C>T n.58-3104C>T c.644-3104C>T (n.644-3104C>T) | |
14 | g.94619238A= | CA2156074051 | SERPINA3 | c.687A= (p.Ser229=) c.33A= (p.Ser11=) c.1650A= n.58-3103A= c.644-3103A= (n.644-3103A=) | |
14 | g.94619238A>C | CA487625184 | SERPINA3 | c.687A>C (p.Ser229=) c.33A>C (p.Ser11=) c.1650A>C n.58-3103A>C c.644-3103A>C (n.644-3103A>C) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619238A>G | CA487625185 | SERPINA3 | c.687A>G (p.Ser229=) c.33A>G (p.Ser11=) c.1650A>G n.58-3103A>G c.644-3103A>G (n.644-3103A>G) | |
14 | g.94619238A>T | CA487625186 | SERPINA3 | c.687A>T (p.Ser229=) c.33A>T (p.Ser11=) c.1650A>T n.58-3103A>T c.644-3103A>T (n.644-3103A>T) | |
14 | g.94619239A>C | CA487625187 | SERPINA3 | c.688A>C (p.Arg230=) c.34A>C (p.Arg12=) c.1651A>C n.58-3102A>C c.644-3102A>C (n.644-3102A>C) | |
14 | g.94619239A>G | CA390855543 | SERPINA3 | c.688A>G (p.Arg230Gly) c.34A>G (p.Arg12Gly) c.1651A>G n.58-3102A>G c.644-3102A>G (n.644-3102A>G) | |
14 | g.94619239A>T | CA390855545 | SERPINA3 | c.688A>T (p.Arg230Trp) c.34A>T (p.Arg12Trp) c.1651A>T n.58-3102A>T c.644-3102A>T (n.644-3102A>T) | |
14 | g.94619240G>A | CA390855547 | SERPINA3 | c.689G>A (p.Arg230Lys) c.35G>A (p.Arg12Lys) c.1652G>A n.58-3101G>A c.644-3101G>A (n.644-3101G>A) | COSMIC COSMIC |
14 | g.94619240G>C | CA390855551 | SERPINA3 | c.689G>C (p.Arg230Thr) c.35G>C (p.Arg12Thr) c.1652G>C n.58-3101G>C c.644-3101G>C (n.644-3101G>C) | |
14 | g.94619240G>T | CA390855549 | SERPINA3 | c.689G>T (p.Arg230Met) c.35G>T (p.Arg12Met) c.1652G>T n.58-3101G>T c.644-3101G>T (n.644-3101G>T) | |
14 | g.94619241G>A | CA487625188 | SERPINA3 | c.690G>A (p.Arg230=) c.36G>A (p.Arg12=) c.1653G>A n.58-3100G>A c.644-3100G>A (n.644-3100G>A) | |
14 | g.94619241G>C | CA390855553 | SERPINA3 | c.690G>C (p.Arg230Ser) c.36G>C (p.Arg12Ser) c.1653G>C n.58-3100G>C c.644-3100G>C (n.644-3100G>C) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619241G= | CA2156074053 | SERPINA3 | c.690G= (p.Arg230=) c.36G= (p.Arg12=) c.1653G= n.58-3100G= c.644-3100G= (n.644-3100G=) | |
14 | g.94619241G>T | CA390855555 | SERPINA3 | c.690G>T (p.Arg230Ser) c.36G>T (p.Arg12Ser) c.1653G>T n.58-3100G>T c.644-3100G>T (n.644-3100G>T) | dbSNP gnomAD v4 |
14 | g.94619241_94619242delinsGT | CA2156074052 | SERPINA3 | c.690_691delinsGT (p.Arg230=) c.36_37delinsGT (p.Arg12=) c.1653_1654delinsGT n.58-3100_58-3099delinsGT c.644-3100_644-3099delinsGT (n.644-3100_644-3099delinsGT) | |
14 | g.94619242T>A | CA390855557 | SERPINA3 | c.691T>A (p.Phe231Ile) c.37T>A (p.Phe13Ile) c.1654T>A n.58-3099T>A c.644-3099T>A (n.644-3099T>A) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94619242T>C | CA390855559 | SERPINA3 | c.691T>C (p.Phe231Leu) c.37T>C (p.Phe13Leu) c.1654T>C n.58-3099T>C c.644-3099T>C (n.644-3099T>C) | gnomAD v4 |
14 | g.94619242T>G | CA390855560 | SERPINA3 | c.691T>G (p.Phe231Val) c.37T>G (p.Phe13Val) c.1654T>G n.58-3099T>G c.644-3099T>G (n.644-3099T>G) | |
14 | g.94619242T= | CA2156074055 | SERPINA3 | c.691T= (p.Phe231=) c.37T= (p.Phe13=) c.1654T= n.58-3099T= c.644-3099T= (n.644-3099T=) | |
14 | g.94619243del | CA2156074054 | SERPINA3 | c.692del (p.Phe231SerfsTer3) c.38del (p.Phe13SerfsTer3) c.1655del n.58-3098del c.644-3098del (n.644-3098del) | dbSNP |
14 | g.94619243T>A | CA390855563 | SERPINA3 | c.692T>A (p.Phe231Tyr) c.38T>A (p.Phe13Tyr) c.1655T>A n.58-3098T>A c.644-3098T>A (n.644-3098T>A) | |
14 | g.94619243T>C | CA390855564 | SERPINA3 | c.692T>C (p.Phe231Ser) c.38T>C (p.Phe13Ser) c.1655T>C n.58-3098T>C c.644-3098T>C (n.644-3098T>C) | |
14 | g.94619243T>G | CA390855566 | SERPINA3 | c.692T>G (p.Phe231Cys) c.38T>G (p.Phe13Cys) c.1655T>G n.58-3098T>G c.644-3098T>G (n.644-3098T>G) | |
14 | g.94619244C>A | CA390855568 | SERPINA3 | c.693C>A (p.Phe231Leu) c.39C>A (p.Phe13Leu) c.1656C>A n.58-3097C>A c.644-3097C>A (n.644-3097C>A) | |
14 | g.94619244C>G | CA390855570 | SERPINA3 | c.693C>G (p.Phe231Leu) c.39C>G (p.Phe13Leu) c.1656C>G n.58-3097C>G c.644-3097C>G (n.644-3097C>G) | |
14 | g.94619244C>T | CA487625189 | SERPINA3 | c.693C>T (p.Phe231=) c.39C>T (p.Phe13=) c.1656C>T n.58-3097C>T c.644-3097C>T (n.644-3097C>T) | gnomAD v4 |
14 | g.94619245T>A | CA390855572 | SERPINA3 | c.694T>A (p.Tyr232Asn) c.40T>A (p.Tyr14Asn) c.1657T>A n.58-3096T>A c.644-3096T>A (n.644-3096T>A) | |
14 | g.94619245T>C | CA390855574 | SERPINA3 | c.694T>C (p.Tyr232His) c.40T>C (p.Tyr14His) c.1657T>C n.58-3096T>C c.644-3096T>C (n.644-3096T>C) | dbSNP |
14 | g.94619245T>G | CA390855575 | SERPINA3 | c.694T>G (p.Tyr232Asp) c.40T>G (p.Tyr14Asp) c.1657T>G n.58-3096T>G c.644-3096T>G (n.644-3096T>G) | ClinVar |
14 | g.94619245T= | CA2156074056 | SERPINA3 | c.694T= (p.Tyr232=) c.40T= (p.Tyr14=) c.1657T= n.58-3096T= c.644-3096T= (n.644-3096T=) | |
14 | g.94619246A= | CA2156074057 | SERPINA3 | c.695A= (p.Tyr232=) c.41A= (p.Tyr14=) c.1658A= n.58-3095A= c.644-3095A= (n.644-3095A=) | |
14 | g.94619246A>C | CA390855579 | SERPINA3 | c.695A>C (p.Tyr232Ser) c.41A>C (p.Tyr14Ser) c.1658A>C n.58-3095A>C c.644-3095A>C (n.644-3095A>C) | gnomAD v4 |
14 | g.94619246A>G | CA390855581 | SERPINA3 | c.695A>G (p.Tyr232Cys) c.41A>G (p.Tyr14Cys) c.1658A>G n.58-3095A>G c.644-3095A>G (n.644-3095A>G) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94619246A>T | CA390855580 | SERPINA3 | c.695A>T (p.Tyr232Phe) c.41A>T (p.Tyr14Phe) c.1658A>T n.58-3095A>T c.644-3095A>T (n.644-3095A>T) | |
14 | g.94619247C>A | CA390855582 | SERPINA3 | c.696C>A (p.Tyr232Ter) c.42C>A (p.Tyr14Ter) c.1659C>A n.58-3094C>A c.644-3094C>A (n.644-3094C>A) | |
14 | g.94619247C>G | CA390855583 | SERPINA3 | c.696C>G (p.Tyr232Ter) c.42C>G (p.Tyr14Ter) c.1659C>G n.58-3094C>G c.644-3094C>G (n.644-3094C>G) | |
14 | g.94619247C>T | CA487625190 | SERPINA3 | c.696C>T (p.Tyr232=) c.42C>T (p.Tyr14=) c.1659C>T n.58-3094C>T c.644-3094C>T (n.644-3094C>T) | gnomAD v4 |
14 | g.94619248T>A | CA390855585 | SERPINA3 | c.697T>A (p.Leu233Met) c.43T>A (p.Leu15Met) c.1660T>A n.58-3093T>A c.644-3093T>A (n.644-3093T>A) | |
14 | g.94619248T>C | CA487625191 | SERPINA3 | c.697T>C (p.Leu233=) c.43T>C (p.Leu15=) c.1660T>C n.58-3093T>C c.644-3093T>C (n.644-3093T>C) | gnomAD v4 |
14 | g.94619248T>G | CA390855586 | SERPINA3 | c.697T>G (p.Leu233Val) c.43T>G (p.Leu15Val) c.1660T>G n.58-3093T>G c.644-3093T>G (n.644-3093T>G) | |
14 | g.94619249T>A | CA390855588 | SERPINA3 | c.698T>A (p.Leu233Ter) c.44T>A (p.Leu15Ter) c.1661T>A n.58-3092T>A c.644-3092T>A (n.644-3092T>A) | |
14 | g.94619249T>C | CA390855589 | SERPINA3 | c.698T>C (p.Leu233Ser) c.44T>C (p.Leu15Ser) c.1661T>C n.58-3092T>C c.644-3092T>C (n.644-3092T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619249T>G | CA390855592 | SERPINA3 | c.698T>G (p.Leu233Trp) c.44T>G (p.Leu15Trp) c.1661T>G n.58-3092T>G c.644-3092T>G (n.644-3092T>G) | gnomAD v4 |
14 | g.94619249T= | CA2156074058 | SERPINA3 | c.698T= (p.Leu233=) c.44T= (p.Leu15=) c.1661T= n.58-3092T= c.644-3092T= (n.644-3092T=) | |
14 | g.94619250G>A | CA487625192 | SERPINA3 | c.699G>A (p.Leu233=) c.45G>A (p.Leu15=) c.1662G>A n.58-3091G>A c.644-3091G>A (n.644-3091G>A) | |
14 | g.94619250G>C | CA7329867 | SERPINA3 | c.699G>C (p.Leu233Phe) c.45G>C (p.Leu15Phe) c.1662G>C n.58-3091G>C c.644-3091G>C (n.644-3091G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619250G= | CA2156074059 | SERPINA3 | c.699G= (p.Leu233=) c.45G= (p.Leu15=) c.1662G= n.58-3091G= c.644-3091G= (n.644-3091G=) | |
14 | g.94619250G>T | CA390855595 | SERPINA3 | c.699G>T (p.Leu233Phe) c.45G>T (p.Leu15Phe) c.1662G>T n.58-3091G>T c.644-3091G>T (n.644-3091G>T) | |
14 | g.94619251A= | CA2156074060 | SERPINA3 | c.700A= (p.Ser234=) c.46A= (p.Ser16=) c.1663A= n.58-3090A= c.644-3090A= (n.644-3090A=) | |
14 | g.94619251A>C | CA7329868 | SERPINA3 | c.700A>C (p.Ser234Arg) c.46A>C (p.Ser16Arg) c.1663A>C n.58-3090A>C c.644-3090A>C (n.644-3090A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619251A>G | CA390855598 | SERPINA3 | c.700A>G (p.Ser234Gly) c.46A>G (p.Ser16Gly) c.1663A>G n.58-3090A>G c.644-3090A>G (n.644-3090A>G) | |
14 | g.94619251A>T | CA390855599 | SERPINA3 | c.700A>T (p.Ser234Cys) c.46A>T (p.Ser16Cys) c.1663A>T n.58-3090A>T c.644-3090A>T (n.644-3090A>T) | |
14 | g.94619252G>A | CA390855604 | SERPINA3 | c.701G>A (p.Ser234Asn) c.47G>A (p.Ser16Asn) c.1664G>A n.58-3089G>A c.644-3089G>A (n.644-3089G>A) | gnomAD v4 |
14 | g.94619252G>C | CA390855605 | SERPINA3 | c.701G>C (p.Ser234Thr) c.47G>C (p.Ser16Thr) c.1664G>C n.58-3089G>C c.644-3089G>C (n.644-3089G>C) | |
14 | g.94619252G>T | CA390855602 | SERPINA3 | c.701G>T (p.Ser234Ile) c.47G>T (p.Ser16Ile) c.1664G>T n.58-3089G>T c.644-3089G>T (n.644-3089G>T) | |
14 | g.94619253C>A | CA390855607 | SERPINA3 | c.702C>A (p.Ser234Arg) c.48C>A (p.Ser16Arg) c.1665C>A n.58-3088C>A c.644-3088C>A (n.644-3088C>A) | gnomAD v4 |
14 | g.94619253C>G | CA390855609 | SERPINA3 | c.702C>G (p.Ser234Arg) c.48C>G (p.Ser16Arg) c.1665C>G n.58-3088C>G c.644-3088C>G (n.644-3088C>G) | |
14 | g.94619253C>T | CA487625193 | SERPINA3 | c.702C>T (p.Ser234=) c.48C>T (p.Ser16=) c.1665C>T n.58-3088C>T c.644-3088C>T (n.644-3088C>T) | |
14 | g.94619254A= | CA2156074061 | SERPINA3 | c.703A= (p.Lys235=) c.49A= (p.Lys17=) c.1666A= n.58-3087A= c.644-3087A= (n.644-3087A=) | |
14 | g.94619254A>C | CA390855611 | SERPINA3 | c.703A>C (p.Lys235Gln) c.49A>C (p.Lys17Gln) c.1666A>C n.58-3087A>C c.644-3087A>C (n.644-3087A>C) | |
14 | g.94619254A>G | CA390855613 | SERPINA3 | c.703A>G (p.Lys235Glu) c.49A>G (p.Lys17Glu) c.1666A>G n.58-3087A>G c.644-3087A>G (n.644-3087A>G) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94619254A>T | CA390855615 | SERPINA3 | c.703A>T (p.Lys235Ter) c.49A>T (p.Lys17Ter) c.1666A>T n.58-3087A>T c.644-3087A>T (n.644-3087A>T) | |
14 | g.94619255A>C | CA390855621 | SERPINA3 | c.704A>C (p.Lys235Thr) c.50A>C (p.Lys17Thr) c.1667A>C n.58-3086A>C c.644-3086A>C (n.644-3086A>C) | |
14 | g.94619255A>G | CA390855617 | SERPINA3 | c.704A>G (p.Lys235Arg) c.50A>G (p.Lys17Arg) c.1667A>G n.58-3086A>G c.644-3086A>G (n.644-3086A>G) | |
14 | g.94619255A>T | CA390855619 | SERPINA3 | c.704A>T (p.Lys235Met) c.50A>T (p.Lys17Met) c.1667A>T n.58-3086A>T c.644-3086A>T (n.644-3086A>T) | |
14 | g.94619256G>A | CA487625194 | SERPINA3 | c.705G>A (p.Lys235=) c.51G>A (p.Lys17=) c.1668G>A n.58-3085G>A c.644-3085G>A (n.644-3085G>A) | |
14 | g.94619256G>C | CA390855623 | SERPINA3 | c.705G>C (p.Lys235Asn) c.51G>C (p.Lys17Asn) c.1668G>C n.58-3085G>C c.644-3085G>C (n.644-3085G>C) | COSMIC COSMIC |
14 | g.94619256G>T | CA390855625 | SERPINA3 | c.705G>T (p.Lys235Asn) c.51G>T (p.Lys17Asn) c.1668G>T n.58-3085G>T c.644-3085G>T (n.644-3085G>T) | |
14 | g.94619257A>C | CA390855627 | SERPINA3 | c.706A>C (p.Lys236Gln) c.52A>C (p.Lys18Gln) c.1669A>C n.58-3084A>C c.644-3084A>C (n.644-3084A>C) | |
14 | g.94619257A>G | CA390855629 | SERPINA3 | c.706A>G (p.Lys236Glu) c.52A>G (p.Lys18Glu) c.1669A>G n.58-3084A>G c.644-3084A>G (n.644-3084A>G) | |
14 | g.94619257A>T | CA390855631 | SERPINA3 | c.706A>T (p.Lys236Ter) c.52A>T (p.Lys18Ter) c.1669A>T n.58-3084A>T c.644-3084A>T (n.644-3084A>T) | |
14 | g.94619258A>C | CA390855636 | SERPINA3 | c.707A>C (p.Lys236Thr) c.53A>C (p.Lys18Thr) c.1670A>C n.58-3083A>C c.644-3083A>C (n.644-3083A>C) | |
14 | g.94619258A>G | CA390855632 | SERPINA3 | c.707A>G (p.Lys236Arg) c.53A>G (p.Lys18Arg) c.1670A>G n.58-3083A>G c.644-3083A>G (n.644-3083A>G) | |
14 | g.94619258A>T | CA390855634 | SERPINA3 | c.707A>T (p.Lys236Ile) c.53A>T (p.Lys18Ile) c.1670A>T n.58-3083A>T c.644-3083A>T (n.644-3083A>T) | |
14 | g.94619259A>C | CA390855638 | SERPINA3 | c.708A>C (p.Lys236Asn) c.54A>C (p.Lys18Asn) c.1671A>C n.58-3082A>C c.644-3082A>C (n.644-3082A>C) | |
14 | g.94619259A>G | CA487625195 | SERPINA3 | c.708A>G (p.Lys236=) c.54A>G (p.Lys18=) c.1671A>G n.58-3082A>G c.644-3082A>G (n.644-3082A>G) | |
14 | g.94619259A>T | CA390855640 | SERPINA3 | c.708A>T (p.Lys236Asn) c.54A>T (p.Lys18Asn) c.1671A>T n.58-3082A>T c.644-3082A>T (n.644-3082A>T) | |
14 | g.94619260A= | CA2156074062 | SERPINA3 | c.709A= (p.Lys237=) c.55A= (p.Lys19=) c.1672A= n.58-3081A= c.644-3081A= (n.644-3081A=) | |
14 | g.94619260A>C | CA390855642 | SERPINA3 | c.709A>C (p.Lys237Gln) c.55A>C (p.Lys19Gln) c.1672A>C n.58-3081A>C c.644-3081A>C (n.644-3081A>C) | |
14 | g.94619260A>G | CA265884881 | SERPINA3 | c.709A>G (p.Lys237Glu) c.55A>G (p.Lys19Glu) c.1672A>G n.58-3081A>G c.644-3081A>G (n.644-3081A>G) | dbSNP |
14 | g.94619260A>T | CA390855645 | SERPINA3 | c.709A>T (p.Lys237Ter) c.55A>T (p.Lys19Ter) c.1672A>T n.58-3081A>T c.644-3081A>T (n.644-3081A>T) | |
14 | g.94619261A= | CA2156074063 | SERPINA3 | c.710A= (p.Lys237=) c.56A= (p.Lys19=) c.1673A= n.58-3080A= c.644-3080A= (n.644-3080A=) | |
14 | g.94619261A>C | CA390855647 | SERPINA3 | c.710A>C (p.Lys237Thr) c.56A>C (p.Lys19Thr) c.1673A>C n.58-3080A>C c.644-3080A>C (n.644-3080A>C) | |
14 | g.94619261A>G | CA7329869 | SERPINA3 | c.710A>G (p.Lys237Arg) c.56A>G (p.Lys19Arg) c.1673A>G n.58-3080A>G c.644-3080A>G (n.644-3080A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619261A>T | CA390855651 | SERPINA3 | c.710A>T (p.Lys237Met) c.56A>T (p.Lys19Met) c.1673A>T n.58-3080A>T c.644-3080A>T (n.644-3080A>T) | |
14 | g.94619262G>A | CA487625196 | SERPINA3 | c.711G>A (p.Lys237=) c.57G>A (p.Lys19=) c.1674G>A n.58-3079G>A c.644-3079G>A (n.644-3079G>A) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619262G>C | CA390855653 | SERPINA3 | c.711G>C (p.Lys237Asn) c.57G>C (p.Lys19Asn) c.1674G>C n.58-3079G>C c.644-3079G>C (n.644-3079G>C) | |
14 | g.94619262G= | CA2156074064 | SERPINA3 | c.711G= (p.Lys237=) c.57G= (p.Lys19=) c.1674G= n.58-3079G= c.644-3079G= (n.644-3079G=) | |
14 | g.94619262G>T | CA390855655 | SERPINA3 | c.711G>T (p.Lys237Asn) c.57G>T (p.Lys19Asn) c.1674G>T n.58-3079G>T c.644-3079G>T (n.644-3079G>T) | |
14 | g.94619263T>A | CA390855658 | SERPINA3 | c.712T>A (p.Trp238Arg) c.58T>A (p.Trp20Arg) c.1675T>A n.58-3078T>A c.644-3078T>A (n.644-3078T>A) | |
14 | g.94619263T>C | CA390855659 | SERPINA3 | c.712T>C (p.Trp238Arg) c.58T>C (p.Trp20Arg) c.1675T>C n.58-3078T>C c.644-3078T>C (n.644-3078T>C) | |
14 | g.94619263T>G | CA390855661 | SERPINA3 | c.712T>G (p.Trp238Gly) c.58T>G (p.Trp20Gly) c.1675T>G n.58-3078T>G c.644-3078T>G (n.644-3078T>G) | gnomAD v4 |
14 | g.94619264G>A | CA7329870 | SERPINA3 | c.713G>A (p.Trp238Ter) c.59G>A (p.Trp20Ter) c.1676G>A n.58-3077G>A c.644-3077G>A (n.644-3077G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619264G>C | CA390855664 | SERPINA3 | c.713G>C (p.Trp238Ser) c.59G>C (p.Trp20Ser) c.1676G>C n.58-3077G>C c.644-3077G>C (n.644-3077G>C) | |
14 | g.94619264G= | CA2156074065 | SERPINA3 | c.713G= (p.Trp238=) c.59G= (p.Trp20=) c.1676G= n.58-3077G= c.644-3077G= (n.644-3077G=) | |
14 | g.94619264G>T | CA390855666 | SERPINA3 | c.713G>T (p.Trp238Leu) c.59G>T (p.Trp20Leu) c.1676G>T n.58-3077G>T c.644-3077G>T (n.644-3077G>T) | |
14 | g.94619265G>A | CA390855668 | SERPINA3 | c.714G>A (p.Trp238Ter) c.60G>A (p.Trp20Ter) c.1677G>A n.58-3076G>A c.644-3076G>A (n.644-3076G>A) | gnomAD v4 |
14 | g.94619265G>C | CA390855672 | SERPINA3 | c.714G>C (p.Trp238Cys) c.60G>C (p.Trp20Cys) c.1677G>C n.58-3076G>C c.644-3076G>C (n.644-3076G>C) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619265G= | CA2156074066 | SERPINA3 | c.714G= (p.Trp238=) c.60G= (p.Trp20=) c.1677G= n.58-3076G= c.644-3076G= (n.644-3076G=) | |
14 | g.94619265G>T | CA390855670 | SERPINA3 | c.714G>T (p.Trp238Cys) c.60G>T (p.Trp20Cys) c.1677G>T n.58-3076G>T c.644-3076G>T (n.644-3076G>T) | COSMIC COSMIC |
14 | g.94619266G>A | CA390855674 | SERPINA3 | c.715G>A (p.Val239Ile) c.61G>A (p.Val21Ile) c.1678G>A n.58-3075G>A c.644-3075G>A (n.644-3075G>A) | gnomAD v4 |
14 | g.94619266G>C | CA390855676 | SERPINA3 | c.715G>C (p.Val239Leu) c.61G>C (p.Val21Leu) c.1678G>C n.58-3075G>C c.644-3075G>C (n.644-3075G>C) | |
14 | g.94619266G>T | CA390855678 | SERPINA3 | c.715G>T (p.Val239Leu) c.61G>T (p.Val21Leu) c.1678G>T n.58-3075G>T c.644-3075G>T (n.644-3075G>T) | |
14 | g.94619267T>A | CA390855680 | SERPINA3 | c.716T>A (p.Val239Glu) c.62T>A (p.Val21Glu) c.1679T>A n.58-3074T>A c.644-3074T>A (n.644-3074T>A) | |
14 | g.94619267T>C | CA7329871 | SERPINA3 | c.716T>C (p.Val239Ala) c.62T>C (p.Val21Ala) c.1679T>C n.58-3074T>C c.644-3074T>C (n.644-3074T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619267T>G | CA390855682 | SERPINA3 | c.716T>G (p.Val239Gly) c.62T>G (p.Val21Gly) c.1679T>G n.58-3074T>G c.644-3074T>G (n.644-3074T>G) | |
14 | g.94619267T= | CA2156074067 | SERPINA3 | c.716T= (p.Val239=) c.62T= (p.Val21=) c.1679T= n.58-3074T= c.644-3074T= (n.644-3074T=) | |
14 | g.94619268A>C | CA487625197 | SERPINA3 | c.717A>C (p.Val239=) c.63A>C (p.Val21=) c.1680A>C n.58-3073A>C c.644-3073A>C (n.644-3073A>C) | |
14 | g.94619268A>G | CA487625198 | SERPINA3 | c.717A>G (p.Val239=) c.63A>G (p.Val21=) c.1680A>G n.58-3073A>G c.644-3073A>G (n.644-3073A>G) | gnomAD v4 |
14 | g.94619268A>T | CA487625199 | SERPINA3 | c.717A>T (p.Val239=) c.63A>T (p.Val21=) c.1680A>T n.58-3073A>T c.644-3073A>T (n.644-3073A>T) | |
14 | g.94619269A>C | CA390855684 | SERPINA3 | c.718A>C (p.Met240Leu) c.64A>C (p.Met22Leu) c.1681A>C n.58-3072A>C c.644-3072A>C (n.644-3072A>C) | |
14 | g.94619269A>G | CA390855686 | SERPINA3 | c.718A>G (p.Met240Val) c.64A>G (p.Met22Val) c.1681A>G n.58-3072A>G c.644-3072A>G (n.644-3072A>G) | COSMIC |
14 | g.94619269A>T | CA390855688 | SERPINA3 | c.718A>T (p.Met240Leu) c.64A>T (p.Met22Leu) c.1681A>T n.58-3072A>T c.644-3072A>T (n.644-3072A>T) | |
14 | g.94619270T>A | CA390855690 | SERPINA3 | c.719T>A (p.Met240Lys) c.65T>A (p.Met22Lys) c.1682T>A n.58-3071T>A c.644-3071T>A (n.644-3071T>A) | |
14 | g.94619270T>C | CA265884896 | SERPINA3 | c.719T>C (p.Met240Thr) c.65T>C (p.Met22Thr) c.1682T>C n.58-3071T>C c.644-3071T>C (n.644-3071T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619270T>G | CA390855692 | SERPINA3 | c.719T>G (p.Met240Arg) c.65T>G (p.Met22Arg) c.1682T>G n.58-3071T>G c.644-3071T>G (n.644-3071T>G) | |
14 | g.94619270T= | CA2156074068 | SERPINA3 | c.719T= (p.Met240=) c.65T= (p.Met22=) c.1682T= n.58-3071T= c.644-3071T= (n.644-3071T=) | |
14 | g.94619271G>A | CA390855695 | SERPINA3 | c.720G>A (p.Met240Ile) c.66G>A (p.Met22Ile) c.1683G>A n.58-3070G>A c.644-3070G>A (n.644-3070G>A) | COSMIC COSMIC |
14 | g.94619271G>C | CA390855697 | SERPINA3 | c.720G>C (p.Met240Ile) c.66G>C (p.Met22Ile) c.1683G>C n.58-3070G>C c.644-3070G>C (n.644-3070G>C) | |
14 | g.94619271G= | CA2156074069 | SERPINA3 | c.720G= (p.Met240=) c.66G= (p.Met22=) c.1683G= n.58-3070G= c.644-3070G= (n.644-3070G=) | |
14 | g.94619271G>T | CA7329872 | SERPINA3 | c.720G>T (p.Met240Ile) c.66G>T (p.Met22Ile) c.1683G>T n.58-3070G>T c.644-3070G>T (n.644-3070G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619272G>A | CA390855699 | SERPINA3 | c.721G>A (p.Val241Met) c.67G>A (p.Val23Met) c.1684G>A n.58-3069G>A c.644-3069G>A (n.644-3069G>A) | gnomAD v4 |
14 | g.94619272G>C | CA390855701 | SERPINA3 | c.721G>C (p.Val241Leu) c.67G>C (p.Val23Leu) c.1684G>C n.58-3069G>C c.644-3069G>C (n.644-3069G>C) | |
14 | g.94619272G>T | CA390855702 | SERPINA3 | c.721G>T (p.Val241Leu) c.67G>T (p.Val23Leu) c.1684G>T n.58-3069G>T c.644-3069G>T (n.644-3069G>T) | |
14 | g.94619273T>A | CA390855704 | SERPINA3 | c.722T>A (p.Val241Glu) c.68T>A (p.Val23Glu) c.1685T>A n.58-3068T>A c.644-3068T>A (n.644-3068T>A) | |
14 | g.94619273T>C | CA390855705 | SERPINA3 | c.722T>C (p.Val241Ala) c.68T>C (p.Val23Ala) c.1685T>C n.58-3068T>C c.644-3068T>C (n.644-3068T>C) | gnomAD v4 |
14 | g.94619273T>G | CA390855707 | SERPINA3 | c.722T>G (p.Val241Gly) c.68T>G (p.Val23Gly) c.1685T>G n.58-3068T>G c.644-3068T>G (n.644-3068T>G) | |
14 | g.94619274G>A | CA487625201 | SERPINA3 | c.723G>A (p.Val241=) c.69G>A (p.Val23=) c.1686G>A n.58-3067G>A c.644-3067G>A (n.644-3067G>A) | gnomAD v4 COSMIC COSMIC |
14 | g.94619274G>C | CA487625202 | SERPINA3 | c.723G>C (p.Val241=) c.69G>C (p.Val23=) c.1686G>C n.58-3067G>C c.644-3067G>C (n.644-3067G>C) | |
14 | g.94619274G= | CA2156074070 | SERPINA3 | c.723G= (p.Val241=) c.69G= (p.Val23=) c.1686G= n.58-3067G= c.644-3067G= (n.644-3067G=) | |
14 | g.94619274G>T | CA487625203 | SERPINA3 | c.723G>T (p.Val241=) c.69G>T (p.Val23=) c.1686G>T n.58-3067G>T c.644-3067G>T (n.644-3067G>T) | dbSNP gnomAD v4 |
14 | g.94619275C>A | CA265884897 | SERPINA3 | c.724C>A (p.Pro242Thr) c.70C>A (p.Pro24Thr) c.1687C>A n.58-3066C>A c.644-3066C>A (n.644-3066C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619275C= | CA2156074071 | SERPINA3 | c.724C= (p.Pro242=) c.70C= (p.Pro24=) c.1687C= n.58-3066C= c.644-3066C= (n.644-3066C=) | |
14 | g.94619275C>G | CA390855710 | SERPINA3 | c.724C>G (p.Pro242Ala) c.70C>G (p.Pro24Ala) c.1687C>G n.58-3066C>G c.644-3066C>G (n.644-3066C>G) | |
14 | g.94619275C>T | CA7329873 | SERPINA3 | c.724C>T (p.Pro242Ser) c.70C>T (p.Pro24Ser) c.1687C>T n.58-3066C>T c.644-3066C>T (n.644-3066C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619276C>A | CA390855713 | SERPINA3 | c.725C>A (p.Pro242His) c.71C>A (p.Pro24His) c.1688C>A n.58-3065C>A c.644-3065C>A (n.644-3065C>A) | |
14 | g.94619276C= | CA2156074072 | SERPINA3 | c.725C= (p.Pro242=) c.71C= (p.Pro24=) c.1688C= n.58-3065C= c.644-3065C= (n.644-3065C=) | |
14 | g.94619276C>G | CA390855715 | SERPINA3 | c.725C>G (p.Pro242Arg) c.71C>G (p.Pro24Arg) c.1688C>G n.58-3065C>G c.644-3065C>G (n.644-3065C>G) | |
14 | g.94619276C>T | CA390855717 | SERPINA3 | c.725C>T (p.Pro242Leu) c.71C>T (p.Pro24Leu) c.1688C>T n.58-3065C>T c.644-3065C>T (n.644-3065C>T) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619277C>A | CA487625205 | SERPINA3 | c.726C>A (p.Pro242=) c.72C>A (p.Pro24=) c.1689C>A n.58-3064C>A c.644-3064C>A (n.644-3064C>A) | |
14 | g.94619277C= | CA2156074073 | SERPINA3 | c.726C= (p.Pro242=) c.72C= (p.Pro24=) c.1689C= n.58-3064C= c.644-3064C= (n.644-3064C=) | |
14 | g.94619277C>G | CA487625206 | SERPINA3 | c.726C>G (p.Pro242=) c.72C>G (p.Pro24=) c.1689C>G n.58-3064C>G c.644-3064C>G (n.644-3064C>G) | |
14 | g.94619277C>T | CA7329874 | SERPINA3 | c.726C>T (p.Pro242=) c.72C>T (p.Pro24=) c.1689C>T n.58-3064C>T c.644-3064C>T (n.644-3064C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94619278A= | CA2156074074 | SERPINA3 | c.727A= (p.Met243=) c.73A= (p.Met25=) c.1690A= n.58-3063A= c.644-3063A= (n.644-3063A=) | |
14 | g.94619278A>C | CA390855724 | SERPINA3 | c.727A>C (p.Met243Leu) c.73A>C (p.Met25Leu) c.1690A>C n.58-3063A>C c.644-3063A>C (n.644-3063A>C) | |
14 | g.94619278A>G | CA7329875 | SERPINA3 | c.727A>G (p.Met243Val) c.73A>G (p.Met25Val) c.1690A>G n.58-3063A>G c.644-3063A>G (n.644-3063A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94619278A>T | CA390855722 | SERPINA3 | c.727A>T (p.Met243Leu) c.73A>T (p.Met25Leu) c.1690A>T n.58-3063A>T c.644-3063A>T (n.644-3063A>T) | |
14 | g.94619279T>A | CA390855726 | SERPINA3 | c.728T>A (p.Met243Lys) c.74T>A (p.Met25Lys) c.1691T>A n.58-3062T>A c.644-3062T>A (n.644-3062T>A) | |
14 | g.94619279T>C | CA390855727 | SERPINA3 | c.728T>C (p.Met243Thr) c.74T>C (p.Met25Thr) c.1691T>C n.58-3062T>C c.644-3062T>C (n.644-3062T>C) | COSMIC COSMIC |
14 | g.94619279T>G | CA390855729 | SERPINA3 | c.728T>G (p.Met243Arg) c.74T>G (p.Met25Arg) c.1691T>G n.58-3062T>G c.644-3062T>G (n.644-3062T>G) | |
14 | g.94619280G>A | CA390855731 | SERPINA3 | c.729G>A (p.Met243Ile) c.75G>A (p.Met25Ile) c.1692G>A n.58-3061G>A c.644-3061G>A (n.644-3061G>A) | dbSNP |
14 | g.94619280G>C | CA390855733 | SERPINA3 | c.729G>C (p.Met243Ile) c.75G>C (p.Met25Ile) c.1692G>C n.58-3061G>C c.644-3061G>C (n.644-3061G>C) | |
14 | g.94619280G= | CA2156074075 | SERPINA3 | c.729G= (p.Met243=) c.75G= (p.Met25=) c.1692G= n.58-3061G= c.644-3061G= (n.644-3061G=) | |
14 | g.94619280G>T | CA390855734 | SERPINA3 | c.729G>T (p.Met243Ile) c.75G>T (p.Met25Ile) c.1692G>T n.58-3061G>T c.644-3061G>T (n.644-3061G>T) | |
14 | g.94619281A>C | CA390855736 | SERPINA3 | c.730A>C (p.Met244Leu) c.76A>C (p.Met26Leu) c.1693A>C n.58-3060A>C c.644-3060A>C (n.644-3060A>C) | |
14 | g.94619281A>G | CA390855737 | SERPINA3 | c.730A>G (p.Met244Val) c.76A>G (p.Met26Val) c.1693A>G n.58-3060A>G c.644-3060A>G (n.644-3060A>G) | |
14 | g.94619281A>T | CA390855739 | SERPINA3 | c.730A>T (p.Met244Leu) c.76A>T (p.Met26Leu) c.1693A>T n.58-3060A>T c.644-3060A>T (n.644-3060A>T) | |
14 | g.94619282T>A | CA390855740 | SERPINA3 | c.731T>A (p.Met244Lys) c.77T>A (p.Met26Lys) c.1694T>A n.58-3059T>A c.644-3059T>A (n.644-3059T>A) | |
14 | g.94619282T>C | CA7329876 | SERPINA3 | c.731T>C (p.Met244Thr) c.77T>C (p.Met26Thr) c.1694T>C n.58-3059T>C c.644-3059T>C (n.644-3059T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94619282T>G | CA390855743 | SERPINA3 | c.731T>G (p.Met244Arg) c.77T>G (p.Met26Arg) c.1694T>G n.58-3059T>G c.644-3059T>G (n.644-3059T>G) | dbSNP gnomAD v4 |
14 | g.94619282T= | CA2156074076 | SERPINA3 | c.731T= (p.Met244=) c.77T= (p.Met26=) c.1694T= n.58-3059T= c.644-3059T= (n.644-3059T=) | |
14 | g.94619283G>A | CA390855745 | SERPINA3 | c.732G>A (p.Met244Ile) c.78G>A (p.Met26Ile) c.1695G>A n.58-3058G>A c.644-3058G>A (n.644-3058G>A) | gnomAD v4 |
14 | g.94619283G>C | CA390855749 | SERPINA3 | c.732G>C (p.Met244Ile) c.78G>C (p.Met26Ile) c.1695G>C n.58-3058G>C c.644-3058G>C (n.644-3058G>C) | |
14 | g.94619283G>T | CA390855747 | SERPINA3 | c.732G>T (p.Met244Ile) c.78G>T (p.Met26Ile) c.1695G>T n.58-3058G>T c.644-3058G>T (n.644-3058G>T) | |
14 | g.94619284A= | CA2156074077 | SERPINA3 | c.733A= (p.Ser245=) c.79A= (p.Ser27=) c.1696A= n.58-3057A= c.644-3057A= (n.644-3057A=) | |
14 | g.94619284A>C | CA390855752 | SERPINA3 | c.733A>C (p.Ser245Arg) c.79A>C (p.Ser27Arg) c.1696A>C n.58-3057A>C c.644-3057A>C (n.644-3057A>C) | |
14 | g.94619284A>G | CA390855756 | SERPINA3 | c.733A>G (p.Ser245Gly) c.79A>G (p.Ser27Gly) c.1696A>G n.58-3057A>G c.644-3057A>G (n.644-3057A>G) | dbSNP gnomAD v2 |
14 | g.94619284A>T | CA390855753 | SERPINA3 | c.733A>T (p.Ser245Cys) c.79A>T (p.Ser27Cys) c.1696A>T n.58-3057A>T c.644-3057A>T (n.644-3057A>T) | |
14 | g.94619285G>A | CA390855758 | SERPINA3 | c.734G>A (p.Ser245Asn) c.80G>A (p.Ser27Asn) c.1697G>A n.58-3056G>A c.644-3056G>A (n.644-3056G>A) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619285G>C | CA390855762 | SERPINA3 | c.734G>C (p.Ser245Thr) c.80G>C (p.Ser27Thr) c.1697G>C n.58-3056G>C c.644-3056G>C (n.644-3056G>C) | |
14 | g.94619285G= | CA2156074078 | SERPINA3 | c.734G= (p.Ser245=) c.80G= (p.Ser27=) c.1697G= n.58-3056G= c.644-3056G= (n.644-3056G=) | |
14 | g.94619285G>T | CA390855760 | SERPINA3 | c.734G>T (p.Ser245Ile) c.80G>T (p.Ser27Ile) c.1697G>T n.58-3056G>T c.644-3056G>T (n.644-3056G>T) | |
14 | g.94619286T>A | CA390855764 | SERPINA3 | c.735T>A (p.Ser245Arg) c.81T>A (p.Ser27Arg) c.1698T>A n.58-3055T>A c.644-3055T>A (n.644-3055T>A) | gnomAD v4 |
14 | g.94619286T>C | CA487625207 | SERPINA3 | c.735T>C (p.Ser245=) c.81T>C (p.Ser27=) c.1698T>C n.58-3055T>C c.644-3055T>C (n.644-3055T>C) | |
14 | g.94619286T>G | CA390855766 | SERPINA3 | c.735T>G (p.Ser245Arg) c.81T>G (p.Ser27Arg) c.1698T>G n.58-3055T>G c.644-3055T>G (n.644-3055T>G) | |
14 | g.94619287T>A | CA390855768 | SERPINA3 | c.736T>A (p.Leu246Met) c.82T>A (p.Leu28Met) c.1699T>A n.58-3054T>A c.644-3054T>A (n.644-3054T>A) | |
14 | g.94619287T>C | CA487625208 | SERPINA3 | c.736T>C (p.Leu246=) c.82T>C (p.Leu28=) c.1699T>C n.58-3054T>C c.644-3054T>C (n.644-3054T>C) | |
14 | g.94619287T>G | CA390855770 | SERPINA3 | c.736T>G (p.Leu246Val) c.82T>G (p.Leu28Val) c.1699T>G n.58-3054T>G c.644-3054T>G (n.644-3054T>G) | |
14 | g.94619288T>A | CA390855772 | SERPINA3 | c.737T>A (p.Leu246Ter) c.83T>A (p.Leu28Ter) c.1700T>A n.58-3053T>A c.644-3053T>A (n.644-3053T>A) | |
14 | g.94619288T>C | CA390855773 | SERPINA3 | c.737T>C (p.Leu246Ser) c.83T>C (p.Leu28Ser) c.1700T>C n.58-3053T>C c.644-3053T>C (n.644-3053T>C) | dbSNP gnomAD v3 gnomAD v4 |
14 | g.94619288T>G | CA390855775 | SERPINA3 | c.737T>G (p.Leu246Trp) c.83T>G (p.Leu28Trp) c.1700T>G n.58-3053T>G c.644-3053T>G (n.644-3053T>G) | |
14 | g.94619288T= | CA2156074079 | SERPINA3 | c.737T= (p.Leu246=) c.83T= (p.Leu28=) c.1700T= n.58-3053T= c.644-3053T= (n.644-3053T=) | |
14 | g.94619289G>A | CA487625209 | SERPINA3 | c.738G>A (p.Leu246=) c.84G>A (p.Leu28=) c.1701G>A n.58-3052G>A c.644-3052G>A (n.644-3052G>A) | gnomAD v4 |
14 | g.94619289G>C | CA390855777 | SERPINA3 | c.738G>C (p.Leu246Phe) c.84G>C (p.Leu28Phe) c.1701G>C n.58-3052G>C c.644-3052G>C (n.644-3052G>C) | |
14 | g.94619289G>T | CA390855778 | SERPINA3 | c.738G>T (p.Leu246Phe) c.84G>T (p.Leu28Phe) c.1701G>T n.58-3052G>T c.644-3052G>T (n.644-3052G>T) | gnomAD v4 |
14 | g.94619290C>A | CA390855781 | SERPINA3 | c.739C>A (p.His247Asn) c.85C>A (p.His29Asn) c.1702C>A n.58-3051C>A c.644-3051C>A (n.644-3051C>A) | |
14 | g.94619290C>G | CA390855783 | SERPINA3 | c.739C>G (p.His247Asp) c.85C>G (p.His29Asp) c.1702C>G n.58-3051C>G c.644-3051C>G (n.644-3051C>G) | |
14 | g.94619290C>T | CA390855784 | SERPINA3 | c.739C>T (p.His247Tyr) c.85C>T (p.His29Tyr) c.1702C>T n.58-3051C>T c.644-3051C>T (n.644-3051C>T) | |
14 | g.94619291A>C | CA390855789 | SERPINA3 | c.740A>C (p.His247Pro) c.86A>C (p.His29Pro) c.1703A>C n.58-3050A>C c.644-3050A>C (n.644-3050A>C) | |
14 | g.94619291A>G | CA390855786 | SERPINA3 | c.740A>G (p.His247Arg) c.86A>G (p.His29Arg) c.1703A>G n.58-3050A>G c.644-3050A>G (n.644-3050A>G) | |
14 | g.94619291A>T | CA390855787 | SERPINA3 | c.740A>T (p.His247Leu) c.86A>T (p.His29Leu) c.1703A>T n.58-3050A>T c.644-3050A>T (n.644-3050A>T) | |
14 | g.94619292T>A | CA390855791 | SERPINA3 | c.741T>A (p.His247Gln) c.87T>A (p.His29Gln) c.1704T>A n.58-3049T>A c.644-3049T>A (n.644-3049T>A) | gnomAD v4 |
14 | g.94619292T>C | CA487625212 | SERPINA3 | c.741T>C (p.His247=) c.87T>C (p.His29=) c.1704T>C n.58-3049T>C c.644-3049T>C (n.644-3049T>C) | |
14 | g.94619292T>G | CA390855793 | SERPINA3 | c.741T>G (p.His247Gln) c.87T>G (p.His29Gln) c.1704T>G n.58-3049T>G c.644-3049T>G (n.644-3049T>G) | |
14 | g.94619293C>A | CA390855796 | SERPINA3 | c.742C>A (p.His248Asn) c.88C>A (p.His30Asn) c.1705C>A n.58-3048C>A c.644-3048C>A (n.644-3048C>A) | |
14 | g.94619293C= | CA2156074080 | SERPINA3 | c.742C= (p.His248=) c.88C= (p.His30=) c.1705C= n.58-3048C= c.644-3048C= (n.644-3048C=) | |
14 | g.94619293C>G | CA390855798 | SERPINA3 | c.742C>G (p.His248Asp) c.88C>G (p.His30Asp) c.1705C>G n.58-3048C>G c.644-3048C>G (n.644-3048C>G) | |
14 | g.94619293C>T | CA7329877 | SERPINA3 | c.742C>T (p.His248Tyr) c.88C>T (p.His30Tyr) c.1705C>T n.58-3048C>T c.644-3048C>T (n.644-3048C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619294A>C | CA390855802 | SERPINA3 | c.743A>C (p.His248Pro) c.89A>C (p.His30Pro) c.1706A>C n.58-3047A>C c.644-3047A>C (n.644-3047A>C) | |
14 | g.94619294A>G | CA390855804 | SERPINA3 | c.743A>G (p.His248Arg) c.89A>G (p.His30Arg) c.1706A>G n.58-3047A>G c.644-3047A>G (n.644-3047A>G) | |
14 | g.94619294A>T | CA390855807 | SERPINA3 | c.743A>T (p.His248Leu) c.89A>T (p.His30Leu) c.1706A>T n.58-3047A>T c.644-3047A>T (n.644-3047A>T) | |
14 | g.94619295C>A | CA390855809 | SERPINA3 | c.744C>A (p.His248Gln) c.90C>A (p.His30Gln) c.1707C>A n.58-3046C>A c.644-3046C>A (n.644-3046C>A) | |
14 | g.94619295C= | CA2156074081 | SERPINA3 | c.744C= (p.His248=) c.90C= (p.His30=) c.1707C= n.58-3046C= c.644-3046C= (n.644-3046C=) | |
14 | g.94619295C>G | CA390855811 | SERPINA3 | c.744C>G (p.His248Gln) c.90C>G (p.His30Gln) c.1707C>G n.58-3046C>G c.644-3046C>G (n.644-3046C>G) | |
14 | g.94619295C>T | CA7329878 | SERPINA3 | c.744C>T (p.His248=) c.90C>T (p.His30=) c.1707C>T n.58-3046C>T c.644-3046C>T (n.644-3046C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619296C>A | CA390855815 | SERPINA3 | c.745C>A (p.Leu249Met) c.91C>A (p.Leu31Met) c.1708C>A n.58-3045C>A c.644-3045C>A (n.644-3045C>A) | |
14 | g.94619296C>G | CA390855817 | SERPINA3 | c.745C>G (p.Leu249Val) c.91C>G (p.Leu31Val) c.1708C>G n.58-3045C>G c.644-3045C>G (n.644-3045C>G) | |
14 | g.94619296C>T | CA487625213 | SERPINA3 | c.745C>T (p.Leu249=) c.91C>T (p.Leu31=) c.1708C>T n.58-3045C>T c.644-3045C>T (n.644-3045C>T) | |
14 | g.94619297T>A | CA390855820 | SERPINA3 | c.746T>A (p.Leu249Gln) c.92T>A (p.Leu31Gln) c.1709T>A n.58-3044T>A c.644-3044T>A (n.644-3044T>A) | |
14 | g.94619297T>C | CA390855821 | SERPINA3 | c.746T>C (p.Leu249Pro) c.92T>C (p.Leu31Pro) c.1709T>C n.58-3044T>C c.644-3044T>C (n.644-3044T>C) | |
14 | g.94619297T>G | CA390855823 | SERPINA3 | c.746T>G (p.Leu249Arg) c.92T>G (p.Leu31Arg) c.1709T>G n.58-3044T>G c.644-3044T>G (n.644-3044T>G) | gnomAD v4 |
14 | g.94619298G>A | CA487625216 | SERPINA3 | c.747G>A (p.Leu249=) c.93G>A (p.Leu31=) c.1710G>A n.58-3043G>A c.644-3043G>A (n.644-3043G>A) | |
14 | g.94619298G>C | CA487625215 | SERPINA3 | c.747G>C (p.Leu249=) c.93G>C (p.Leu31=) c.1710G>C n.58-3043G>C c.644-3043G>C (n.644-3043G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619298G= | CA2156074082 | SERPINA3 | c.747G= (p.Leu249=) c.93G= (p.Leu31=) c.1710G= n.58-3043G= c.644-3043G= (n.644-3043G=) | |
14 | g.94619298G>T | CA487625214 | SERPINA3 | c.747G>T (p.Leu249=) c.93G>T (p.Leu31=) c.1710G>T n.58-3043G>T c.644-3043G>T (n.644-3043G>T) | |
14 | g.94619299A>C | CA390855825 | SERPINA3 | c.748A>C (p.Thr250Pro) c.94A>C (p.Thr32Pro) c.1711A>C n.58-3042A>C c.644-3042A>C (n.644-3042A>C) | |
14 | g.94619299A>G | CA390855827 | SERPINA3 | c.748A>G (p.Thr250Ala) c.94A>G (p.Thr32Ala) c.1711A>G n.58-3042A>G c.644-3042A>G (n.644-3042A>G) | |
14 | g.94619299A>T | CA390855829 | SERPINA3 | c.748A>T (p.Thr250Ser) c.94A>T (p.Thr32Ser) c.1711A>T n.58-3042A>T c.644-3042A>T (n.644-3042A>T) | |
14 | g.94619300C>A | CA390855832 | SERPINA3 | c.749C>A (p.Thr250Asn) c.95C>A (p.Thr32Asn) c.1712C>A n.58-3041C>A c.644-3041C>A (n.644-3041C>A) | |
14 | g.94619300C= | CA2156074083 | SERPINA3 | c.749C= (p.Thr250=) c.95C= (p.Thr32=) c.1712C= n.58-3041C= c.644-3041C= (n.644-3041C=) | |
14 | g.94619300C>G | CA390855834 | SERPINA3 | c.749C>G (p.Thr250Ser) c.95C>G (p.Thr32Ser) c.1712C>G n.58-3041C>G c.644-3041C>G (n.644-3041C>G) | |
14 | g.94619300C>T | CA390855836 | SERPINA3 | c.749C>T (p.Thr250Ile) c.95C>T (p.Thr32Ile) c.1712C>T n.58-3041C>T c.644-3041C>T (n.644-3041C>T) | dbSNP gnomAD v2 |
14 | g.94619301T>A | CA487625217 | SERPINA3 | c.750T>A (p.Thr250=) c.96T>A (p.Thr32=) c.1713T>A n.58-3040T>A c.644-3040T>A (n.644-3040T>A) | |
14 | g.94619301T>C | CA487625218 | SERPINA3 | c.750T>C (p.Thr250=) c.96T>C (p.Thr32=) c.1713T>C n.58-3040T>C c.644-3040T>C (n.644-3040T>C) | |
14 | g.94619301T>G | CA487625219 | SERPINA3 | c.750T>G (p.Thr250=) c.96T>G (p.Thr32=) c.1713T>G n.58-3040T>G c.644-3040T>G (n.644-3040T>G) | |
14 | g.94619302A= | CA2156074084 | SERPINA3 | c.751A= (p.Ile251=) c.97A= (p.Ile33=) c.1714A= n.58-3039A= c.644-3039A= (n.644-3039A=) | |
14 | g.94619302A>C | CA390855837 | SERPINA3 | c.751A>C (p.Ile251Leu) c.97A>C (p.Ile33Leu) c.1714A>C n.58-3039A>C c.644-3039A>C (n.644-3039A>C) | |
14 | g.94619302A>G | CA390855838 | SERPINA3 | c.751A>G (p.Ile251Val) c.97A>G (p.Ile33Val) c.1714A>G n.58-3039A>G c.644-3039A>G (n.644-3039A>G) | dbSNP gnomAD v2 gnomAD v4 |
14 | g.94619302A>T | CA390855839 | SERPINA3 | c.751A>T (p.Ile251Leu) c.97A>T (p.Ile33Leu) c.1714A>T n.58-3039A>T c.644-3039A>T (n.644-3039A>T) | |
14 | g.94619303T>A | CA390855842 | SERPINA3 | c.752T>A (p.Ile251Lys) c.98T>A (p.Ile33Lys) c.1715T>A n.58-3038T>A c.644-3038T>A (n.644-3038T>A) | |
14 | g.94619303T>C | CA390855841 | SERPINA3 | c.752T>C (p.Ile251Thr) c.98T>C (p.Ile33Thr) c.1715T>C n.58-3038T>C c.644-3038T>C (n.644-3038T>C) | dbSNP gnomAD v4 COSMIC |
14 | g.94619303T>G | CA390855840 | SERPINA3 | c.752T>G (p.Ile251Arg) c.98T>G (p.Ile33Arg) c.1715T>G n.58-3038T>G c.644-3038T>G (n.644-3038T>G) | |
14 | g.94619303T= | CA2156074085 | SERPINA3 | c.752T= (p.Ile251=) c.98T= (p.Ile33=) c.1715T= n.58-3038T= c.644-3038T= (n.644-3038T=) | |
14 | g.94619304A>C | CA487625220 | SERPINA3 | c.753A>C (p.Ile251=) c.99A>C (p.Ile33=) c.1716A>C n.58-3037A>C c.644-3037A>C (n.644-3037A>C) | |
14 | g.94619304A>G | CA390855843 | SERPINA3 | c.753A>G (p.Ile251Met) c.99A>G (p.Ile33Met) c.1716A>G n.58-3037A>G c.644-3037A>G (n.644-3037A>G) | |
14 | g.94619304A>T | CA487625221 | SERPINA3 | c.753A>T (p.Ile251=) c.99A>T (p.Ile33=) c.1716A>T n.58-3037A>T c.644-3037A>T (n.644-3037A>T) | |
14 | g.94619305C>A | CA390855844 | SERPINA3 | c.754C>A (p.Pro252Thr) c.100C>A (p.Pro34Thr) c.1717C>A n.58-3036C>A c.644-3036C>A (n.644-3036C>A) | gnomAD v4 |
14 | g.94619305C= | CA2156074086 | SERPINA3 | c.754C= (p.Pro252=) c.100C= (p.Pro34=) c.1717C= n.58-3036C= c.644-3036C= (n.644-3036C=) | |
14 | g.94619305C>G | CA127757 | SERPINA3 | c.754C>G (p.Pro252Ala) c.100C>G (p.Pro34Ala) c.1717C>G n.58-3036C>G c.644-3036C>G (n.644-3036C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.94619305C>T | CA7329879 | SERPINA3 | c.754C>T (p.Pro252Ser) c.100C>T (p.Pro34Ser) c.1717C>T n.58-3036C>T c.644-3036C>T (n.644-3036C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94619306C>A | CA390855845 | SERPINA3 | c.755C>A (p.Pro252His) c.101C>A (p.Pro34His) c.1718C>A n.58-3035C>A c.644-3035C>A (n.644-3035C>A) | |
14 | g.94619306C>G | CA390855846 | SERPINA3 | c.755C>G (p.Pro252Arg) c.101C>G (p.Pro34Arg) c.1718C>G n.58-3035C>G c.644-3035C>G (n.644-3035C>G) | |
14 | g.94619306C>T | CA390855847 | SERPINA3 | c.755C>T (p.Pro252Leu) c.101C>T (p.Pro34Leu) c.1718C>T n.58-3035C>T c.644-3035C>T (n.644-3035C>T) | gnomAD v4 |