UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48437767_48437768delinsGT | CA2580089640 | FBN1 | c.6313_6313+1delinsAC c.1312_1312+1delinsAC c.*2076_*2076+1delinsAC c.1620_1620+1delinsAC n.433_434delinsAC | ClinVar |
| 15 | g.48437768C>A | CA392336885 | FBN1 | c.6313G>T (p.Glu2105Ter) c.1312G>T (p.Glu438Ter) c.*2076G>T (n.*2076G>T) c.1620G>T n.433G>T | ClinVar dbSNP |
| 15 | g.48437768C= | CA2175503649 | FBN1 | c.6313G= (p.Glu2105=) c.1312G= (p.Glu438=) c.*2076G= (n.*2076G=) c.1620G= n.433G= | |
| 15 | g.48437768C>G | CA016334 | FBN1 | c.6313G>C (p.Glu2105Gln) c.1312G>C (p.Glu438Gln) c.*2076G>C (n.*2076G>C) c.1620G>C n.433G>C | ClinVar dbSNP |
| 15 | g.48437768C>T | CA392336886 | FBN1 | c.6313G>A (p.Glu2105Lys) c.1312G>A (p.Glu438Lys) c.*2076G>A (n.*2076G>A) c.1620G>A n.433G>A | ClinVar dbSNP |
| 15 | g.48437769A>C | CA392336888 | FBN1 | c.6312T>G (p.Asp2104Glu) c.1311T>G (p.Asp437Glu) c.*2075T>G (n.*2075T>G) c.1619T>G n.432T>G | |
| 15 | g.48437769A>G | CA490019567 | FBN1 | c.6312T>C (p.Asp2104=) c.1311T>C (p.Asp437=) c.*2075T>C (n.*2075T>C) c.1619T>C n.432T>C | |
| 15 | g.48437769A>T | CA392336887 | FBN1 | c.6312T>A (p.Asp2104Glu) c.1311T>A (p.Asp437Glu) c.*2075T>A (n.*2075T>A) c.1619T>A n.432T>A | |
| 15 | g.48437770T>A | CA392336889 | FBN1 | c.6311A>T (p.Asp2104Val) c.1310A>T (p.Asp437Val) c.*2074A>T (n.*2074A>T) c.1618A>T n.431A>T | |
| 15 | g.48437770T>C | CA392336891 | FBN1 | c.6311A>G (p.Asp2104Gly) c.1310A>G (p.Asp437Gly) c.*2074A>G (n.*2074A>G) c.1618A>G n.431A>G | |
| 15 | g.48437770T>G | CA392336890 | FBN1 | c.6311A>C (p.Asp2104Ala) c.1310A>C (p.Asp437Ala) c.*2074A>C (n.*2074A>C) c.1618A>C n.431A>C | |
| 15 | g.48437770_48437771insGATGTAAGTAAGA | CA2539716397 | FBN1 | c.6310_6311insTCTTACTTACATC (p.Asp2104ValfsTer6) c.1309_1310insTCTTACTTACATC (p.Asp437ValfsTer6) c.*2073_*2074insTCTTACTTACATC (n.*2073_*2074insTCTTACTTACATC) c.1617_1618insTCTTACTTACATC n.430_431insTCTTACTTACATC | |
| 15 | g.48437771C>A | CA269526851 | FBN1 | c.6310G>T (p.Asp2104Tyr) c.1309G>T (p.Asp437Tyr) c.*2073G>T (n.*2073G>T) c.1617G>T n.430G>T | dbSNP |
| 15 | g.48437771C= | CA2175503655 | FBN1 | c.6310G= (p.Asp2104=) c.1309G= (p.Asp437=) c.*2073G= (n.*2073G=) c.1617G= n.430G= | |
| 15 | g.48437771C>G | CA392336892 | FBN1 | c.6310G>C (p.Asp2104His) c.1309G>C (p.Asp437His) c.*2073G>C (n.*2073G>C) c.1617G>C n.430G>C | |
| 15 | g.48437771C>T | CA392336893 | FBN1 | c.6310G>A (p.Asp2104Asn) c.1309G>A (p.Asp437Asn) c.*2073G>A (n.*2073G>A) c.1617G>A n.430G>A | |
| 15 | g.48437771_48437772insTGT | CA2562630300 | FBN1 | c.6309_6310insACA (p.Pro2103_Asp2104insThr) c.1308_1309insACA (p.Pro436_Asp437insThr) c.*2072_*2073insACA (n.*2072_*2073insACA) c.1616_1617insACA n.429_430insACA | |
| 15 | g.48437772A>C | CA490019581 | FBN1 | c.6309T>G (p.Pro2103=) c.1308T>G (p.Pro436=) c.*2072T>G (n.*2072T>G) c.1616T>G n.429T>G | |
| 15 | g.48437772A>G | CA490019583 | FBN1 | c.6309T>C (p.Pro2103=) c.1308T>C (p.Pro436=) c.*2072T>C (n.*2072T>C) c.1616T>C n.429T>C | |
| 15 | g.48437772A>T | CA490019586 | FBN1 | c.6309T>A (p.Pro2103=) c.1308T>A (p.Pro436=) c.*2072T>A (n.*2072T>A) c.1616T>A n.429T>A | |
| 15 | g.48437772dup | CA2573150936 | FBN1 | c.6309dup (p.Asp2104Ter) c.1308dup (p.Asp437Ter) c.*2072dup (n.*2072dup) c.1616dup n.429dup | ClinVar dbSNP |
| 15 | g.48437773G>A | CA392336894 | FBN1 | c.6308C>T (p.Pro2103Leu) c.1307C>T (p.Pro436Leu) c.*2071C>T (n.*2071C>T) c.1615C>T n.428C>T | ClinVar gnomAD v4 |
| 15 | g.48437773G>C | CA392336895 | FBN1 | c.6308C>G (p.Pro2103Arg) c.1307C>G (p.Pro436Arg) c.*2071C>G (n.*2071C>G) c.1615C>G n.428C>G | |
| 15 | g.48437773G>T | CA392336896 | FBN1 | c.6308C>A (p.Pro2103His) c.1307C>A (p.Pro436His) c.*2071C>A (n.*2071C>A) c.1615C>A n.428C>A | ClinVar gnomAD v4 |
| 15 | g.48437774G>A | CA392336897 | FBN1 | c.6307C>T (p.Pro2103Ser) c.1306C>T (p.Pro436Ser) c.*2070C>T (n.*2070C>T) c.1614C>T n.427C>T | |
| 15 | g.48437774G>C | CA392336898 | FBN1 | c.6307C>G (p.Pro2103Ala) c.1306C>G (p.Pro436Ala) c.*2070C>G (n.*2070C>G) c.1614C>G n.427C>G | ClinVar dbSNP |
| 15 | g.48437774G>T | CA392336899 | FBN1 | c.6307C>A (p.Pro2103Thr) c.1306C>A (p.Pro436Thr) c.*2070C>A (n.*2070C>A) c.1614C>A n.427C>A | |
| 15 | g.48437775T>A | CA392336900 | FBN1 | c.6306A>T (p.Glu2102Asp) c.1305A>T (p.Glu435Asp) c.*2069A>T (n.*2069A>T) c.1613A>T n.426A>T | |
| 15 | g.48437775T>C | CA490019599 | FBN1 | c.6306A>G (p.Glu2102=) c.1305A>G (p.Glu435=) c.*2069A>G (n.*2069A>G) c.1613A>G n.426A>G | |
| 15 | g.48437775T>G | CA392336901 | FBN1 | c.6306A>C (p.Glu2102Asp) c.1305A>C (p.Glu435Asp) c.*2069A>C (n.*2069A>C) c.1613A>C n.426A>C | |
| 15 | g.48437776T>A | CA392336904 | FBN1 | c.6305A>T (p.Glu2102Val) c.1304A>T (p.Glu435Val) c.*2068A>T (n.*2068A>T) c.1612A>T n.425A>T | |
| 15 | g.48437776T>C | CA392336903 | FBN1 | c.6305A>G (p.Glu2102Gly) c.1304A>G (p.Glu435Gly) c.*2068A>G (n.*2068A>G) c.1612A>G n.425A>G | |
| 15 | g.48437776T>G | CA392336902 | FBN1 | c.6305A>C (p.Glu2102Ala) c.1304A>C (p.Glu435Ala) c.*2068A>C (n.*2068A>C) c.1612A>C n.425A>C | gnomAD v4 |
| 15 | g.48437777C>A | CA392336905 | FBN1 | c.6304G>T (p.Glu2102Ter) c.1303G>T (p.Glu435Ter) c.*2067G>T (n.*2067G>T) c.1611G>T n.424G>T | |
| 15 | g.48437777C>G | CA392336906 | FBN1 | c.6304G>C (p.Glu2102Gln) c.1303G>C (p.Glu435Gln) c.*2067G>C (n.*2067G>C) c.1611G>C n.424G>C | |
| 15 | g.48437777C>T | CA392336907 | FBN1 | c.6304G>A (p.Glu2102Lys) c.1303G>A (p.Glu435Lys) c.*2067G>A (n.*2067G>A) c.1611G>A n.424G>A | |
| 15 | g.48437778C>A | CA490019612 | FBN1 | c.6303G>T (p.Thr2101=) c.1302G>T (p.Thr434=) c.*2066G>T (n.*2066G>T) c.1610G>T n.423G>T | |
| 15 | g.48437778C= | CA2175503657 | FBN1 | c.6303G= (p.Thr2101=) c.1302G= (p.Thr434=) c.*2066G= (n.*2066G=) c.1610G= n.423G= | |
| 15 | g.48437778C>G | CA490019615 | FBN1 | c.6303G>C (p.Thr2101=) c.1302G>C (p.Thr434=) c.*2066G>C (n.*2066G>C) c.1610G>C n.423G>C | |
| 15 | g.48437778C>T | CA490019616 | FBN1 | c.6303G>A (p.Thr2101=) c.1302G>A (p.Thr434=) c.*2066G>A (n.*2066G>A) c.1610G>A n.423G>A | ClinVar dbSNP gnomAD v4 |
| 15 | g.48437779G>A | CA056505 | FBN1 | c.6302C>T (p.Thr2101Met) c.1301C>T (p.Thr434Met) c.*2065C>T (n.*2065C>T) c.1609C>T n.422C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.48437779G>C | CA392336908 | FBN1 | c.6302C>G (p.Thr2101Arg) c.1301C>G (p.Thr434Arg) c.*2065C>G (n.*2065C>G) c.1609C>G n.422C>G | |
| 15 | g.48437779G= | CA2175503664 | FBN1 | c.6302C= (p.Thr2101=) c.1301C= (p.Thr434=) c.*2065C= (n.*2065C=) c.1609C= n.422C= | |
| 15 | g.48437779G>T | CA392336909 | FBN1 | c.6302C>A (p.Thr2101Lys) c.1301C>A (p.Thr434Lys) c.*2065C>A (n.*2065C>A) c.1609C>A n.422C>A | |
| 15 | g.48437780T>A | CA392336910 | FBN1 | c.6301A>T (p.Thr2101Ser) c.1300A>T (p.Thr434Ser) c.*2064A>T (n.*2064A>T) c.1608A>T n.421A>T | |
| 15 | g.48437780T>C | CA392336911 | FBN1 | c.6301A>G (p.Thr2101Ala) c.1300A>G (p.Thr434Ala) c.*2064A>G (n.*2064A>G) c.1608A>G n.421A>G | dbSNP |
| 15 | g.48437780T>G | CA392336912 | FBN1 | c.6301A>C (p.Thr2101Pro) c.1300A>C (p.Thr434Pro) c.*2064A>C (n.*2064A>C) c.1608A>C n.421A>C | |
| 15 | g.48437780T= | CA2175503674 | FBN1 | c.6301A= (p.Thr2101=) c.1300A= (p.Thr434=) c.*2064A= (n.*2064A=) c.1608A= n.421A= | |
| 15 | g.48437781G>A | CA490019629 | FBN1 | c.6300C>T (p.Pro2100=) c.1299C>T (p.Pro433=) c.*2063C>T (n.*2063C>T) c.1607C>T n.420C>T | |
| 15 | g.48437781G>C | CA490019631 | FBN1 | c.6300C>G (p.Pro2100=) c.1299C>G (p.Pro433=) c.*2063C>G (n.*2063C>G) c.1607C>G n.420C>G |