Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.94619205G>A | CA487625170 | SERPINA3 | c.654G>A (p.Glu218=) c.-1G>A (n.-1G>A) c.1617G>A n.58-3136G>A c.644-3136G>A (n.644-3136G>A) | |
14 | g.94619205G>C | CA7329856 | SERPINA3 | c.654G>C (p.Glu218Asp) c.-1G>C (n.-1G>C) c.1617G>C n.58-3136G>C c.644-3136G>C (n.644-3136G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.94619205G= | CA2156074031 | SERPINA3 | c.654G= (p.Glu218=) c.-1G= (n.-1G=) c.1617G= n.58-3136G= c.644-3136G= (n.644-3136G=) | |
14 | g.94619205G>T | CA390855367 | SERPINA3 | c.654G>T (p.Glu218Asp) c.-1G>T (n.-1G>T) c.1617G>T n.58-3136G>T c.644-3136G>T (n.644-3136G>T) | |
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) |