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 |
|---|---|---|---|---|---|
| 6 | g.6248335C>A | CA362740292 | F13A1 | c.775G>T (p.Val259Phe) c.937G>T (p.Val313Phe) | |
| 6 | g.6248335C= | CA1608002827 | F13A1 | c.775G= (p.Val259=) c.937G= (p.Val313=) | |
| 6 | g.6248335C>G | CA3624557 | F13A1 | c.775G>C (p.Val259Leu) c.937G>C (p.Val313Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6248335C>T | CA362740293 | F13A1 | c.775G>A (p.Val259Ile) c.937G>A (p.Val313Ile) | |
| 6 | g.6248335_6248336delinsCT | CA1608002828 | F13A1 | c.774_775delinsAG (p.Lys258=) c.936_937delinsAG (p.Lys312=) | |
| 6 | g.6248336T>A | CA362740295 | F13A1 | c.774A>T (p.Lys258Asn) c.936A>T (p.Lys312Asn) | |
| 6 | g.6248336T>C | CA448645919 | F13A1 | c.774A>G (p.Lys258=) c.936A>G (p.Lys312=) | |
| 6 | g.6248336T>G | CA362740294 | F13A1 | c.774A>C (p.Lys258Asn) c.936A>C (p.Lys312Asn) | |
| 6 | g.6248338del | CA3624556 | F13A1 | c.774del (p.Val259SerfsTer9) c.936del (p.Val313SerfsTer9) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6248337T>A | CA362740296 | F13A1 | c.773A>T (p.Lys258Ile) c.935A>T (p.Lys312Ile) | |
| 6 | g.6248337T>C | CA3624558 | F13A1 | c.773A>G (p.Lys258Arg) c.935A>G (p.Lys312Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6248337T>G | CA362740297 | F13A1 | c.773A>C (p.Lys258Thr) c.935A>C (p.Lys312Thr) | |
| 6 | g.6248337T= | CA1608002829 | F13A1 | c.773A= (p.Lys258=) c.935A= (p.Lys312=) | |
| 6 | g.6248338T>A | CA362740298 | F13A1 | c.772A>T (p.Lys258Ter) c.934A>T (p.Lys312Ter) | |
| 6 | g.6248338T>C | CA362740299 | F13A1 | c.772A>G (p.Lys258Glu) c.934A>G (p.Lys312Glu) | gnomAD v4 |
| 6 | g.6248338T>G | CA362740300 | F13A1 | c.772A>C (p.Lys258Gln) c.934A>C (p.Lys312Gln) | |
| 6 | g.6248339G>A | CA448645920 | F13A1 | c.771C>T (p.Ile257=) c.933C>T (p.Ile311=) | |
| 6 | g.6248339G>C | CA362740301 | F13A1 | c.771C>G (p.Ile257Met) c.933C>G (p.Ile311Met) | |
| 6 | g.6248339G>T | CA448645921 | F13A1 | c.771C>A (p.Ile257=) c.933C>A (p.Ile311=) | |
| 6 | g.6248340A>C | CA362740302 | F13A1 | c.770T>G (p.Ile257Ser) c.932T>G (p.Ile311Ser) | |
| 6 | g.6248340A>G | CA362740303 | F13A1 | c.770T>C (p.Ile257Thr) c.932T>C (p.Ile311Thr) | |
| 6 | g.6248340A>T | CA362740304 | F13A1 | c.770T>A (p.Ile257Asn) c.932T>A (p.Ile311Asn) | |
| 6 | g.6248341T>A | CA362740305 | F13A1 | c.769A>T (p.Ile257Phe) c.931A>T (p.Ile311Phe) | |
| 6 | g.6248341T>C | CA362740306 | F13A1 | c.769A>G (p.Ile257Val) c.931A>G (p.Ile311Val) | dbSNP gnomAD v4 |
| 6 | g.6248341T>G | CA362740307 | F13A1 | c.769A>C (p.Ile257Leu) c.931A>C (p.Ile311Leu) | |
| 6 | g.6248341T= | CA1608002830 | F13A1 | c.769A= (p.Ile257=) c.931A= (p.Ile311=) | |
| 6 | g.6248342G>A | CA448645922 | F13A1 | c.768C>T (p.Pro256=) c.930C>T (p.Pro310=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.6248342G>C | CA448645923 | F13A1 | c.768C>G (p.Pro256=) c.930C>G (p.Pro310=) | gnomAD v4 |
| 6 | g.6248342G= | CA1608002831 | F13A1 | c.768C= (p.Pro256=) c.930C= (p.Pro310=) | |
| 6 | g.6248342G>T | CA448645924 | F13A1 | c.768C>A (p.Pro256=) c.930C>A (p.Pro310=) | |
| 6 | g.6248343G>A | CA362740309 | F13A1 | c.767C>T (p.Pro256Leu) c.929C>T (p.Pro310Leu) | |
| 6 | g.6248343G>C | CA362740310 | F13A1 | c.767C>G (p.Pro256Arg) c.929C>G (p.Pro310Arg) | |
| 6 | g.6248343G>T | CA362740308 | F13A1 | c.767C>A (p.Pro256His) c.929C>A (p.Pro310His) | |
| 6 | g.6248344G>A | CA362740313 | F13A1 | c.766C>T (p.Pro256Ser) c.928C>T (p.Pro310Ser) | |
| 6 | g.6248344G>C | CA362740311 | F13A1 | c.766C>G (p.Pro256Ala) c.928C>G (p.Pro310Ala) | |
| 6 | g.6248344G>T | CA362740312 | F13A1 | c.766C>A (p.Pro256Thr) c.928C>A (p.Pro310Thr) | |
| 6 | g.6248345A= | CA1608002832 | F13A1 | c.765T= (p.Asn255=) c.927T= (p.Asn309=) | |
| 6 | g.6248345A>C | CA362740314 | F13A1 | c.765T>G (p.Asn255Lys) c.927T>G (p.Asn309Lys) | |
| 6 | g.6248345A>G | CA448645925 | F13A1 | c.765T>C (p.Asn255=) c.927T>C (p.Asn309=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.6248345A>T | CA362740315 | F13A1 | c.765T>A (p.Asn255Lys) c.927T>A (p.Asn309Lys) | |
| 6 | g.6248345dup | CA2695205978 | F13A1 | c.765dup (p.Pro256SerfsTer17) c.927dup (p.Pro310SerfsTer17) | |
| 6 | g.6248346T>A | CA362740316 | F13A1 | c.764A>T (p.Asn255Ile) c.926A>T (p.Asn309Ile) | |
| 6 | g.6248346T>C | CA362740317 | F13A1 | c.764A>G (p.Asn255Ser) c.926A>G (p.Asn309Ser) | |
| 6 | g.6248346T>G | CA362740318 | F13A1 | c.764A>C (p.Asn255Thr) c.926A>C (p.Asn309Thr) | |
| 6 | g.6248347T>A | CA362740319 | F13A1 | c.763A>T (p.Asn255Tyr) c.925A>T (p.Asn309Tyr) | |
| 6 | g.6248347T>C | CA362740320 | F13A1 | c.763A>G (p.Asn255Asp) c.925A>G (p.Asn309Asp) | |
| 6 | g.6248347T>G | CA362740321 | F13A1 | c.763A>C (p.Asn255His) c.925A>C (p.Asn309His) | gnomAD v4 |
| 6 | g.6248348C>A | CA448645926 | F13A1 | c.762G>T (p.Gly254=) c.924G>T (p.Gly308=) | |
| 6 | g.6248348C>G | CA448645927 | F13A1 | c.762G>C (p.Gly254=) c.924G>C (p.Gly308=) | |
| 6 | g.6248348C>T | CA448645928 | F13A1 | c.762G>A (p.Gly254=) c.924G>A (p.Gly308=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.6248349C>A | CA362740322 | F13A1 | c.761G>T (p.Gly254Val) c.923G>T (p.Gly308Val) | |
| 6 | g.6248349C>G | CA362740323 | F13A1 | c.761G>C (p.Gly254Ala) c.923G>C (p.Gly308Ala) | |
| 6 | g.6248349C>T | CA362740324 | F13A1 | c.761G>A (p.Gly254Glu) c.923G>A (p.Gly308Glu) | gnomAD v4 |
| 6 | g.6248350C>A | CA362740327 | F13A1 | c.760G>T (p.Gly254Trp) c.922G>T (p.Gly308Trp) | |
| 6 | g.6248350C= | CA1608002833 | F13A1 | c.760G= (p.Gly254=) c.922G= (p.Gly308=) | |
| 6 | g.6248350C>G | CA362740325 | F13A1 | c.760G>C (p.Gly254Arg) c.922G>C (p.Gly308Arg) | |
| 6 | g.6248350C>T | CA362740326 | F13A1 | c.760G>A (p.Gly254Arg) c.922G>A (p.Gly308Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.6248351T>A | CA362740328 | F13A1 | c.759A>T (p.Arg253Ser) c.921A>T (p.Arg307Ser) | |
| 6 | g.6248351T>C | CA3624559 | F13A1 | c.759A>G (p.Arg253=) c.921A>G (p.Arg307=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6248351T>G | CA362740329 | F13A1 | c.759A>C (p.Arg253Ser) c.921A>C (p.Arg307Ser) | gnomAD v4 |
| 6 | g.6248351T= | CA1608002834 | F13A1 | c.759A= (p.Arg253=) c.921A= (p.Arg307=) | |
| 6 | g.6248352C>A | CA362740330 | F13A1 | c.758G>T (p.Arg253Ile) c.920G>T (p.Arg307Ile) | gnomAD v4 |
| 6 | g.6248352C>G | CA362740331 | F13A1 | c.758G>C (p.Arg253Thr) c.920G>C (p.Arg307Thr) | |
| 6 | g.6248352C>T | CA362740332 | F13A1 | c.758G>A (p.Arg253Lys) c.920G>A (p.Arg307Lys) | COSMIC |
| 6 | g.6248353T>A | CA362740333 | F13A1 | c.757A>T (p.Arg253Ter) c.919A>T (p.Arg307Ter) | |
| 6 | g.6248353T>C | CA362740334 | F13A1 | c.757A>G (p.Arg253Gly) c.919A>G (p.Arg307Gly) | |
| 6 | g.6248353T>G | CA3624560 | F13A1 | c.757A>C (p.Arg253=) c.919A>C (p.Arg307=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6248353T= | CA1608002835 | F13A1 | c.757A= (p.Arg253=) c.919A= (p.Arg307=) | |
| 6 | g.6248354T>A | CA448645929 | F13A1 | c.756A>T (p.Gly252=) c.918A>T (p.Gly306=) | |
| 6 | g.6248354T>C | CA448645930 | F13A1 | c.756A>G (p.Gly252=) c.918A>G (p.Gly306=) | |
| 6 | g.6248354T>G | CA448645931 | F13A1 | c.756A>C (p.Gly252=) c.918A>C (p.Gly306=) | |
| 6 | g.6248355C>A | CA362740335 | F13A1 | c.755G>T (p.Gly252Val) c.917G>T (p.Gly306Val) | |
| 6 | g.6248355C>G | CA362740336 | F13A1 | c.755G>C (p.Gly252Ala) c.917G>C (p.Gly306Ala) | |
| 6 | g.6248355C>T | CA362740337 | F13A1 | c.755G>A (p.Gly252Glu) c.917G>A (p.Gly306Glu) | COSMIC |
| 6 | g.6248356C>A | CA362740340 | F13A1 | c.754G>T (p.Gly252Ter) c.916G>T (p.Gly306Ter) | |
| 6 | g.6248356C>G | CA362740339 | F13A1 | c.754G>C (p.Gly252Arg) c.916G>C (p.Gly306Arg) | |
| 6 | g.6248356C>T | CA362740338 | F13A1 | c.754G>A (p.Gly252Arg) c.916G>A (p.Gly306Arg) | |
| 6 | g.6248357A= | CA1608002836 | F13A1 | c.753T= (p.Ser251=) c.915T= (p.Ser305=) | |
| 6 | g.6248357A>C | CA448645932 | F13A1 | c.753T>G (p.Ser251=) c.915T>G (p.Ser305=) | |
| 6 | g.6248357A>G | CA3624561 | F13A1 | c.753T>C (p.Ser251=) c.915T>C (p.Ser305=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.6248357A>T | CA448645933 | F13A1 | c.753T>A (p.Ser251=) c.915T>A (p.Ser305=) | |
| 6 | g.6248361_6248362del | CA2677191826 | F13A1 | c.752_753del (p.Ser251TrpfsTer21) c.914_915del (p.Ser305TrpfsTer21) | gnomAD v4 |
| 6 | g.6248358G>A | CA362740341 | F13A1 | c.752C>T (p.Ser251Phe) c.914C>T (p.Ser305Phe) | |
| 6 | g.6248358G>C | CA362740342 | F13A1 | c.752C>G (p.Ser251Cys) c.914C>G (p.Ser305Cys) | |
| 6 | g.6248358G= | CA1608002837 | F13A1 | c.752C= (p.Ser251=) c.914C= (p.Ser305=) | |
| 6 | g.6248358G>T | CA3624562 | F13A1 | c.752C>A (p.Ser251Tyr) c.914C>A (p.Ser305Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6248359A>C | CA362740343 | F13A1 | c.751T>G (p.Ser251Ala) c.913T>G (p.Ser305Ala) | |
| 6 | g.6248359A>G | CA362740344 | F13A1 | c.751T>C (p.Ser251Pro) c.913T>C (p.Ser305Pro) | |
| 6 | g.6248359A>T | CA362740345 | F13A1 | c.751T>A (p.Ser251Thr) c.913T>A (p.Ser305Thr) | |
| 6 | g.6248360G>A | CA448645934 | F13A1 | c.750C>T (p.Leu250=) c.912C>T (p.Leu304=) | |
| 6 | g.6248360G>C | CA448645935 | F13A1 | c.750C>G (p.Leu250=) c.912C>G (p.Leu304=) | |
| 6 | g.6248360G>T | CA448645936 | F13A1 | c.750C>A (p.Leu250=) c.912C>A (p.Leu304=) | |
| 6 | g.6248361A>C | CA362740348 | F13A1 | c.749T>G (p.Leu250Arg) c.911T>G (p.Leu304Arg) | |
| 6 | g.6248361A>G | CA362740346 | F13A1 | c.749T>C (p.Leu250Pro) c.911T>C (p.Leu304Pro) | ClinVar |
| 6 | g.6248361A>T | CA362740347 | F13A1 | c.749T>A (p.Leu250His) c.911T>A (p.Leu304His) | |
| 6 | g.6248362G>A | CA362740349 | F13A1 | c.748C>T (p.Leu250Phe) c.910C>T (p.Leu304Phe) | |
| 6 | g.6248362G>C | CA362740350 | F13A1 | c.748C>G (p.Leu250Val) c.910C>G (p.Leu304Val) | gnomAD v4 |
| 6 | g.6248362G= | CA1608002838 | F13A1 | c.748C= (p.Leu250=) c.910C= (p.Leu304=) | |
| 6 | g.6248362G>T | CA362740351 | F13A1 | c.748C>A (p.Leu250Ile) c.910C>A (p.Leu304Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.6248363G>A | CA448645937 | F13A1 | c.747C>T (p.Asp249=) c.909C>T (p.Asp303=) | gnomAD v4 |
| 6 | g.6248363G>C | CA362740352 | F13A1 | c.747C>G (p.Asp249Glu) c.909C>G (p.Asp303Glu) | |
| 6 | g.6248363G>T | CA362740353 | F13A1 | c.747C>A (p.Asp249Glu) c.909C>A (p.Asp303Glu) | |
| 6 | g.6248364T>A | CA3624563 | F13A1 | c.746A>T (p.Asp249Val) c.908A>T (p.Asp303Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6248364T>C | CA362740355 | F13A1 | c.746A>G (p.Asp249Gly) c.908A>G (p.Asp303Gly) | |
| 6 | g.6248364T>G | CA362740354 | F13A1 | c.746A>C (p.Asp249Ala) c.908A>C (p.Asp303Ala) | |
| 6 | g.6248364T= | CA1608002839 | F13A1 | c.746A= (p.Asp249=) c.908A= (p.Asp303=) | |
| 6 | g.6248365C>A | CA362740356 | F13A1 | c.745G>T (p.Asp249Tyr) c.907G>T (p.Asp303Tyr) | |
| 6 | g.6248365C>G | CA362740357 | F13A1 | c.745G>C (p.Asp249His) c.907G>C (p.Asp303His) | |
| 6 | g.6248365C>T | CA362740358 | F13A1 | c.745G>A (p.Asp249Asn) c.907G>A (p.Asp303Asn) | |
| 6 | g.6248366C>A | CA362740359 | F13A1 | c.744G>T (p.Met248Ile) c.906G>T (p.Met302Ile) | |
| 6 | g.6248366C>G | CA362740360 | F13A1 | c.744G>C (p.Met248Ile) c.906G>C (p.Met302Ile) | |
| 6 | g.6248366C>T | CA362740361 | F13A1 | c.744G>A (p.Met248Ile) c.906G>A (p.Met302Ile) | |
| 6 | g.6248367A= | CA1608002840 | F13A1 | c.743T= (p.Met248=) c.905T= (p.Met302=) | |
| 6 | g.6248367A>C | CA362740362 | F13A1 | c.743T>G (p.Met248Arg) c.905T>G (p.Met302Arg) | |
| 6 | g.6248367A>G | CA3624564 | F13A1 | c.743T>C (p.Met248Thr) c.905T>C (p.Met302Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.6248367A>T | CA362740363 | F13A1 | c.743T>A (p.Met248Lys) c.905T>A (p.Met302Lys) | |
| 6 | g.6248368T>A | CA362740364 | F13A1 | c.742A>T (p.Met248Leu) c.904A>T (p.Met302Leu) | |
| 6 | g.6248368T>C | CA362740365 | F13A1 | c.742A>G (p.Met248Val) c.904A>G (p.Met302Val) | |
| 6 | g.6248368T>G | CA362740366 | F13A1 | c.742A>C (p.Met248Leu) c.904A>C (p.Met302Leu) | |
| 6 | g.6248370del | CA2695205979 | F13A1 | c.742del (p.Met248TrpfsTer20) c.904del (p.Met302TrpfsTer20) | |
| 6 | g.6248369T>A | CA3624566 | F13A1 | c.741A>T (p.Gln247His) c.903A>T (p.Gln301His) | dbSNP ExAC |
| 6 | g.6248369T>C | CA3624565 | F13A1 | c.741A>G (p.Gln247=) c.903A>G (p.Gln301=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6248369T>G | CA362740367 | F13A1 | c.741A>C (p.Gln247His) c.903A>C (p.Gln301His) | |
| 6 | g.6248369T= | CA1608002841 | F13A1 | c.741A= (p.Gln247=) c.903A= (p.Gln301=) | |
| 6 | g.6248370T>A | CA362740368 | F13A1 | c.740A>T (p.Gln247Leu) c.902A>T (p.Gln301Leu) | |
| 6 | g.6248370T>C | CA362740369 | F13A1 | c.740A>G (p.Gln247Arg) c.902A>G (p.Gln301Arg) | |
| 6 | g.6248370T>G | CA362740370 | F13A1 | c.740A>C (p.Gln247Pro) c.902A>C (p.Gln301Pro) | |
| 6 | g.6248371G>A | CA362740371 | F13A1 | c.739C>T (p.Gln247Ter) c.901C>T (p.Gln301Ter) | |
| 6 | g.6248371G>C | CA362740372 | F13A1 | c.739C>G (p.Gln247Glu) c.901C>G (p.Gln301Glu) | |
| 6 | g.6248371G>T | CA362740373 | F13A1 | c.739C>A (p.Gln247Lys) c.901C>A (p.Gln301Lys) | |
| 6 | g.6248372T>A | CA448645940 | F13A1 | c.738A>T (p.Ala246=) c.900A>T (p.Ala300=) | |
| 6 | g.6248372T>C | CA448645939 | F13A1 | c.738A>G (p.Ala246=) c.900A>G (p.Ala300=) | |
| 6 | g.6248372T>G | CA448645938 | F13A1 | c.738A>C (p.Ala246=) c.900A>C (p.Ala300=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.6248372T= | CA1608002842 | F13A1 | c.738A= (p.Ala246=) c.900A= (p.Ala300=) | |
| 6 | g.6248373G>A | CA362740376 | F13A1 | c.737C>T (p.Ala246Val) c.899C>T (p.Ala300Val) | |
| 6 | g.6248373G>C | CA362740374 | F13A1 | c.737C>G (p.Ala246Gly) c.899C>G (p.Ala300Gly) | |
| 6 | g.6248373G>T | CA362740375 | F13A1 | c.737C>A (p.Ala246Glu) c.899C>A (p.Ala300Glu) | |
| 6 | g.6248374C>A | CA362740377 | F13A1 | c.736G>T (p.Ala246Ser) c.898G>T (p.Ala300Ser) | |
| 6 | g.6248374C>G | CA362740378 | F13A1 | c.736G>C (p.Ala246Pro) c.898G>C (p.Ala300Pro) | gnomAD v4 |
| 6 | g.6248374C>T | CA362740379 | F13A1 | c.736G>A (p.Ala246Thr) c.898G>A (p.Ala300Thr) | gnomAD v4 |
| 6 | g.6248375T>A | CA362740380 | F13A1 | c.735A>T (p.Arg245Ser) c.897A>T (p.Arg299Ser) | |
| 6 | g.6248375T>C | CA448645941 | F13A1 | c.735A>G (p.Arg245=) c.897A>G (p.Arg299=) | gnomAD v4 |
| 6 | g.6248375T>G | CA362740381 | F13A1 | c.735A>C (p.Arg245Ser) c.897A>C (p.Arg299Ser) | gnomAD v4 |
| 6 | g.6248376C>A | CA362740384 | F13A1 | c.734G>T (p.Arg245Ile) c.896G>T (p.Arg299Ile) | |
| 6 | g.6248376C>G | CA362740382 | F13A1 | c.734G>C (p.Arg245Thr) c.896G>C (p.Arg299Thr) | gnomAD v4 |
| 6 | g.6248376C>T | CA362740383 | F13A1 | c.734G>A (p.Arg245Lys) c.896G>A (p.Arg299Lys) | |
| 6 | g.6248377T>A | CA362740385 | F13A1 | c.733A>T (p.Arg245Ter) c.895A>T (p.Arg299Ter) | |
| 6 | g.6248377T>C | CA3624567 | F13A1 | c.733A>G (p.Arg245Gly) c.895A>G (p.Arg299Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6248377T>G | CA448645942 | F13A1 | c.733A>C (p.Arg245=) c.895A>C (p.Arg299=) | |
| 6 | g.6248377T= | CA1608002843 | F13A1 | c.733A= (p.Arg245=) c.895A= (p.Arg299=) | |
| 6 | g.6248378G>A | CA448645943 | F13A1 | c.732C>T (p.Asp244=) c.894C>T (p.Asp298=) | dbSNP gnomAD v2 |
| 6 | g.6248378G>C | CA362740386 | F13A1 | c.732C>G (p.Asp244Glu) c.894C>G (p.Asp298Glu) | |
| 6 | g.6248378G= | CA1608002844 | F13A1 | c.732C= (p.Asp244=) c.894C= (p.Asp298=) | |
| 6 | g.6248378G>T | CA362740387 | F13A1 | c.732C>A (p.Asp244Glu) c.894C>A (p.Asp298Glu) | |
| 6 | g.6248379T>A | CA362740388 | F13A1 | c.731A>T (p.Asp244Val) c.893A>T (p.Asp298Val) | |
| 6 | g.6248379T>C | CA362740389 | F13A1 | c.731A>G (p.Asp244Gly) c.893A>G (p.Asp298Gly) | |
| 6 | g.6248379T>G | CA362740390 | F13A1 | c.731A>C (p.Asp244Ala) c.893A>C (p.Asp298Ala) | |
| 6 | g.6248380C>A | CA362740391 | F13A1 | c.730G>T (p.Asp244Tyr) c.892G>T (p.Asp298Tyr) | |
| 6 | g.6248380C>G | CA362740392 | F13A1 | c.730G>C (p.Asp244His) c.892G>C (p.Asp298His) | |
| 6 | g.6248380C>T | CA362740393 | F13A1 | c.730G>A (p.Asp244Asn) c.892G>A (p.Asp298Asn) | COSMIC |
| 6 | g.6248381C>A | CA362740394 | F13A1 | c.729G>T (p.Met243Ile) c.891G>T (p.Met297Ile) | |
| 6 | g.6248381C= | CA1608002845 | F13A1 | c.729G= (p.Met243=) c.891G= (p.Met297=) | |
| 6 | g.6248381C>G | CA362740395 | F13A1 | c.729G>C (p.Met243Ile) c.891G>C (p.Met297Ile) | |
| 6 | g.6248381C>T | CA134394028 | F13A1 | c.729G>A (p.Met243Ile) c.891G>A (p.Met297Ile) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.6248382A= | CA1608002846 | F13A1 | c.728T= (p.Met243=) c.890T= (p.Met297=) | |
| 6 | g.6248382A>C | CA362740397 | F13A1 | c.728T>G (p.Met243Arg) c.890T>G (p.Met297Arg) | |
| 6 | g.6248382A>G | CA126654 | F13A1 | c.728T>C (p.Met243Thr) c.890T>C (p.Met297Thr) | ClinVar dbSNP gnomAD v4 |
| 6 | g.6248382A>T | CA362740396 | F13A1 | c.728T>A (p.Met243Lys) c.890T>A (p.Met297Lys) | |
| 6 | g.6248383T>A | CA362740398 | F13A1 | c.727A>T (p.Met243Leu) c.889A>T (p.Met297Leu) | |
| 6 | g.6248383T>C | CA362740399 | F13A1 | c.727A>G (p.Met243Val) c.889A>G (p.Met297Val) | gnomAD v4 |
| 6 | g.6248383T>G | CA362740400 | F13A1 | c.727A>C (p.Met243Leu) c.889A>C (p.Met297Leu) | |
| 6 | g.6248384C>A | CA448645946 | F13A1 | c.726G>T (p.Val242=) c.888G>T (p.Val296=) | gnomAD v4 |
| 6 | g.6248384C= | CA1608002847 | F13A1 | c.726G= (p.Val242=) c.888G= (p.Val296=) | |
| 6 | g.6248384C>G | CA448645945 | F13A1 | c.726G>C (p.Val242=) c.888G>C (p.Val296=) | |
| 6 | g.6248384C>T | CA448645944 | F13A1 | c.726G>A (p.Val242=) c.888G>A (p.Val296=) | dbSNP |
| 6 | g.6248385A>C | CA362740401 | F13A1 | c.725T>G (p.Val242Gly) c.887T>G (p.Val296Gly) | |
| 6 | g.6248385A>G | CA362740402 | F13A1 | c.725T>C (p.Val242Ala) c.887T>C (p.Val296Ala) | |
| 6 | g.6248385A>T | CA362740403 | F13A1 | c.725T>A (p.Val242Glu) c.887T>A (p.Val296Glu) | |
| 6 | g.6248386C>A | CA362740406 | F13A1 | c.724G>T (p.Val242Leu) c.886G>T (p.Val296Leu) | |
| 6 | g.6248386C>G | CA362740404 | F13A1 | c.724G>C (p.Val242Leu) c.886G>C (p.Val296Leu) | |
| 6 | g.6248386C>T | CA362740405 | F13A1 | c.724G>A (p.Val242Met) c.886G>A (p.Val296Met) | gnomAD v4 |
| 6 | g.6248387A= | CA1608002848 | F13A1 | c.723T= (p.Tyr241=) c.885T= (p.Tyr295=) | |
| 6 | g.6248387A>C | CA362740407 | F13A1 | c.723T>G (p.Tyr241Ter) c.885T>G (p.Tyr295Ter) | ClinVar dbSNP gnomAD v2 |
| 6 | g.6248387A>G | CA448645947 | F13A1 | c.723T>C (p.Tyr241=) c.885T>C (p.Tyr295=) | dbSNP |
| 6 | g.6248387A>T | CA362740408 | F13A1 | c.723T>A (p.Tyr241Ter) c.885T>A (p.Tyr295Ter) | |
| 6 | g.6248388T>A | CA362740409 | F13A1 | c.722A>T (p.Tyr241Phe) c.884A>T (p.Tyr295Phe) | |
| 6 | g.6248388T>C | CA362740410 | F13A1 | c.722A>G (p.Tyr241Cys) c.884A>G (p.Tyr295Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.6248388T>G | CA362740411 | F13A1 | c.722A>C (p.Tyr241Ser) c.884A>C (p.Tyr295Ser) | |
| 6 | g.6248388T= | CA1608002849 | F13A1 | c.722A= (p.Tyr241=) c.884A= (p.Tyr295=) | |
| 6 | g.6248389A>C | CA362740412 | F13A1 | c.721T>G (p.Tyr241Asp) c.883T>G (p.Tyr295Asp) | |
| 6 | g.6248389A>G | CA362740414 | F13A1 | c.721T>C (p.Tyr241His) c.883T>C (p.Tyr295His) | dbSNP gnomAD v4 |
| 6 | g.6248389A>T | CA362740413 | F13A1 | c.721T>A (p.Tyr241Asn) c.883T>A (p.Tyr295Asn) | |
| 6 | g.6248390C>A | CA448645948 | F13A1 | c.720G>T (p.Leu240=) c.882G>T (p.Leu294=) | gnomAD v4 |
| 6 | g.6248390C= | CA1608002850 | F13A1 | c.720G= (p.Leu240=) c.882G= (p.Leu294=) | |
| 6 | g.6248390C>G | CA448645949 | F13A1 | c.720G>C (p.Leu240=) c.882G>C (p.Leu294=) | |
| 6 | g.6248390C>T | CA3624568 | F13A1 | c.720G>A (p.Leu240=) c.882G>A (p.Leu294=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6248391A>C | CA362740415 | F13A1 | c.719T>G (p.Leu240Arg) c.881T>G (p.Leu294Arg) | |
| 6 | g.6248391A>G | CA362740416 | F13A1 | c.719T>C (p.Leu240Pro) c.881T>C (p.Leu294Pro) | |
| 6 | g.6248391A>T | CA362740417 | F13A1 | c.719T>A (p.Leu240Gln) c.881T>A (p.Leu294Gln) | |
| 6 | g.6248392G>A | CA448645950 | F13A1 | c.718C>T (p.Leu240=) c.880C>T (p.Leu294=) | dbSNP gnomAD v4 |
| 6 | g.6248392G>C | CA362740418 | F13A1 | c.718C>G (p.Leu240Val) c.880C>G (p.Leu294Val) | |
| 6 | g.6248392G= | CA1608002851 | F13A1 | c.718C= (p.Leu240=) c.880C= (p.Leu294=) | |
| 6 | g.6248392G>T | CA362740419 | F13A1 | c.718C>A (p.Leu240Met) c.880C>A (p.Leu294Met) | |
| 6 | g.6248393G>A | CA448645951 | F13A1 | c.717C>T (p.Cys239=) c.879C>T (p.Cys293=) | |
| 6 | g.6248393G>C | CA362740420 | F13A1 | c.717C>G (p.Cys239Trp) c.879C>G (p.Cys293Trp) | |
| 6 | g.6248393G>T | CA362740421 | F13A1 | c.717C>A (p.Cys239Ter) c.879C>A (p.Cys293Ter) | COSMIC |
| 6 | g.6248394C>A | CA362740422 | F13A1 | c.716G>T (p.Cys239Phe) c.878G>T (p.Cys293Phe) | |
| 6 | g.6248394C>G | CA362740423 | F13A1 | c.716G>C (p.Cys239Ser) c.878G>C (p.Cys293Ser) | |
| 6 | g.6248394C>T | CA362740424 | F13A1 | c.716G>A (p.Cys239Tyr) c.878G>A (p.Cys293Tyr) | |
| 6 | g.6248395A>C | CA362740425 | F13A1 | c.715T>G (p.Cys239Gly) c.877T>G (p.Cys293Gly) | |
| 6 | g.6248395A>G | CA362740427 | F13A1 | c.715T>C (p.Cys239Arg) c.877T>C (p.Cys293Arg) | |
| 6 | g.6248395A>T | CA362740426 | F13A1 | c.715T>A (p.Cys239Ser) c.877T>A (p.Cys293Ser) | |
| 6 | g.6248396A>C | CA448645952 | F13A1 | c.714T>G (p.Thr238=) c.876T>G (p.Thr292=) | |
| 6 | g.6248396A>G | CA448645953 | F13A1 | c.714T>C (p.Thr238=) c.876T>C (p.Thr292=) | |
| 6 | g.6248396A>T | CA448645954 | F13A1 | c.714T>A (p.Thr238=) c.876T>A (p.Thr292=) | |
| 6 | g.6248397G>A | CA362740428 | F13A1 | c.713C>T (p.Thr238Ile) c.875C>T (p.Thr292Ile) | |
| 6 | g.6248397G>C | CA362740430 | F13A1 | c.713C>G (p.Thr238Ser) c.875C>G (p.Thr292Ser) | |
| 6 | g.6248397G>T | CA362740429 | F13A1 | c.713C>A (p.Thr238Asn) c.875C>A (p.Thr292Asn) | |
| 6 | g.6248398T>A | CA362740431 | F13A1 | c.712A>T (p.Thr238Ser) c.874A>T (p.Thr292Ser) | |
| 6 | g.6248398T>C | CA362740433 | F13A1 | c.712A>G (p.Thr238Ala) c.874A>G (p.Thr292Ala) | |
| 6 | g.6248398T>G | CA362740432 | F13A1 | c.712A>C (p.Thr238Pro) c.874A>C (p.Thr292Pro) | |
| 6 | g.6248399G>A | CA448645955 | F13A1 | c.711C>T (p.Asp237=) c.873C>T (p.Asp291=) | gnomAD v4 |
| 6 | g.6248399G>C | CA362740434 | F13A1 | c.711C>G (p.Asp237Glu) c.873C>G (p.Asp291Glu) | |
| 6 | g.6248399G>T | CA362740435 | F13A1 | c.711C>A (p.Asp237Glu) c.873C>A (p.Asp291Glu) | |
| 6 | g.6248400T>A | CA362740436 | F13A1 | c.710A>T (p.Asp237Val) c.872A>T (p.Asp291Val) | |
| 6 | g.6248400T>C | CA362740437 | F13A1 | c.710A>G (p.Asp237Gly) c.872A>G (p.Asp291Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.6248400T>G | CA362740438 | F13A1 | c.710A>C (p.Asp237Ala) c.872A>C (p.Asp291Ala) | |
| 6 | g.6248400T= | CA1608002852 | F13A1 | c.710A= (p.Asp237=) c.872A= (p.Asp291=) | |
| 6 | g.6248400_6248401delinsTC | CA1608002853 | F13A1 | c.709_710delinsGA (p.Asp237=) c.871_872delinsGA (p.Asp291=) | |
| 6 | g.6248401C>A | CA362740439 | F13A1 | c.709G>T (p.Asp237Tyr) c.871G>T (p.Asp291Tyr) | gnomAD v4 |
| 6 | g.6248401C>G | CA362740440 | F13A1 | c.709G>C (p.Asp237His) c.871G>C (p.Asp291His) | |
| 6 | g.6248401C>T | CA362740441 | F13A1 | c.709G>A (p.Asp237Asn) c.871G>A (p.Asp291Asn) | |
| 6 | g.6248402del | CA1608002854 | F13A1 | c.709del (p.Asp237ThrfsTer6) c.871del (p.Asp291ThrfsTer6) | dbSNP gnomAD v4 |
| 6 | g.6248402C>A | CA448645956 | F13A1 | c.708G>T (p.Leu236=) c.870G>T (p.Leu290=) | |
| 6 | g.6248402C>G | CA448645958 | F13A1 | c.708G>C (p.Leu236=) c.870G>C (p.Leu290=) | |
| 6 | g.6248402C>T | CA448645957 | F13A1 | c.708G>A (p.Leu236=) c.870G>A (p.Leu290=) | gnomAD v4 |
| 6 | g.6248403A>C | CA362740442 | F13A1 | c.707T>G (p.Leu236Arg) c.869T>G (p.Leu290Arg) | ClinVar |
| 6 | g.6248403A>G | CA362740443 | F13A1 | c.707T>C (p.Leu236Pro) c.869T>C (p.Leu290Pro) | |
| 6 | g.6248403A>T | CA362740444 | F13A1 | c.707T>A (p.Leu236Gln) c.869T>A (p.Leu290Gln) | |
| 6 | g.6248404G>A | CA448645959 | F13A1 | c.706C>T (p.Leu236=) c.868C>T (p.Leu290=) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.6248404G>C | CA362740445 | F13A1 | c.706C>G (p.Leu236Val) c.868C>G (p.Leu290Val) | |
| 6 | g.6248404G= | CA1608002855 | F13A1 | c.706C= (p.Leu236=) c.868C= (p.Leu290=) | |
| 6 | g.6248404G>T | CA362740446 | F13A1 | c.706C>A (p.Leu236Met) c.868C>A (p.Leu290Met) | |
| 6 | g.6248405G>A | CA448645960 | F13A1 | c.705C>T (p.Ile235=) c.867C>T (p.Ile289=) | |
| 6 | g.6248405G>C | CA362740447 | F13A1 | c.705C>G (p.Ile235Met) c.867C>G (p.Ile289Met) | |
| 6 | g.6248405G>T | CA448645961 | F13A1 | c.705C>A (p.Ile235=) c.867C>A (p.Ile289=) | gnomAD v4 |
| 6 | g.6248406A= | CA1608002856 | F13A1 | c.704T= (p.Ile235=) c.866T= (p.Ile289=) | |
| 6 | g.6248406A>C | CA362740448 | F13A1 | c.704T>G (p.Ile235Ser) c.866T>G (p.Ile289Ser) | |
| 6 | g.6248406A>G | CA362740449 | F13A1 | c.704T>C (p.Ile235Thr) c.866T>C (p.Ile289Thr) | dbSNP |
| 6 | g.6248406A>T | CA3624569 | F13A1 | c.704T>A (p.Ile235Asn) c.866T>A (p.Ile289Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.6248407T>A | CA362740450 | F13A1 | c.703A>T (p.Ile235Phe) c.865A>T (p.Ile289Phe) | |
| 6 | g.6248407T>C | CA362740451 | F13A1 | c.703A>G (p.Ile235Val) c.865A>G (p.Ile289Val) | gnomAD v4 |
| 6 | g.6248407T>G | CA362740452 | F13A1 | c.703A>C (p.Ile235Leu) c.865A>C (p.Ile289Leu) | |
| 6 | g.6248408G>A | CA448645962 | F13A1 | c.702C>T (p.Gly234=) c.864C>T (p.Gly288=) | |
| 6 | g.6248408G>C | CA448645964 | F13A1 | c.702C>G (p.Gly234=) c.864C>G (p.Gly288=) | |
| 6 | g.6248408G= | CA1608002857 | F13A1 | c.702C= (p.Gly234=) c.864C= (p.Gly288=) | |
| 6 | g.6248408G>T | CA448645963 | F13A1 | c.702C>A (p.Gly234=) c.864C>A (p.Gly288=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6248409C>A | CA362740453 | F13A1 | c.701G>T (p.Gly234Val) c.863G>T (p.Gly288Val) | |
| 6 | g.6248409C= | CA1608002858 | F13A1 | c.701G= (p.Gly234=) c.863G= (p.Gly288=) | |
| 6 | g.6248409C>G | CA362740454 | F13A1 | c.701G>C (p.Gly234Ala) c.863G>C (p.Gly288Ala) | |
| 6 | g.6248409C>T | CA134394029 | F13A1 | c.701G>A (p.Gly234Asp) c.863G>A (p.Gly288Asp) | dbSNP gnomAD v4 |
| 6 | g.6248410C>A | CA362740455 | F13A1 | c.700G>T (p.Gly234Cys) c.862G>T (p.Gly288Cys) | |
| 6 | g.6248410C>G | CA362740456 | F13A1 | c.700G>C (p.Gly234Arg) c.862G>C (p.Gly288Arg) | |
| 6 | g.6248410C>T | CA362740457 | F13A1 | c.700G>A (p.Gly234Ser) c.862G>A (p.Gly288Ser) | gnomAD v4 |
| 6 | g.6248411A>C | CA362740458 | F13A1 | c.699T>G (p.Asp233Glu) c.861T>G (p.Asp287Glu) | |
| 6 | g.6248411A>G | CA448645965 | F13A1 | c.699T>C (p.Asp233=) c.861T>C (p.Asp287=) | |
| 6 | g.6248411A>T | CA362740459 | F13A1 | c.699T>A (p.Asp233Glu) c.861T>A (p.Asp287Glu) | |
| 6 | g.6248412T>A | CA362740460 | F13A1 | c.698A>T (p.Asp233Val) c.860A>T (p.Asp287Val) | |
| 6 | g.6248412T>C | CA362740461 | F13A1 | c.698A>G (p.Asp233Gly) c.860A>G (p.Asp287Gly) | gnomAD v4 |
| 6 | g.6248412T>G | CA362740462 | F13A1 | c.698A>C (p.Asp233Ala) c.860A>C (p.Asp287Ala) | |
| 6 | g.6248413C>A | CA362740463 | F13A1 | c.697G>T (p.Asp233Tyr) c.859G>T (p.Asp287Tyr) | |
| 6 | g.6248413C>G | CA362740464 | F13A1 | c.697G>C (p.Asp233His) c.859G>C (p.Asp287His) | |
| 6 | g.6248413C>T | CA362740465 | F13A1 | c.697G>A (p.Asp233Asn) c.859G>A (p.Asp287Asn) | |
| 6 | g.6248414T>A | CA362740466 | F13A1 | c.696A>T (p.Glu232Asp) c.858A>T (p.Glu286Asp) | gnomAD v4 |
| 6 | g.6248414T>C | CA448645966 | F13A1 | c.696A>G (p.Glu232=) c.858A>G (p.Glu286=) | |
| 6 | g.6248414T>G | CA362740467 | F13A1 | c.696A>C (p.Glu232Asp) c.858A>C (p.Glu286Asp) | |
| 6 | g.6248415T>A | CA362740468 | F13A1 | c.695A>T (p.Glu232Val) c.857A>T (p.Glu286Val) | |
| 6 | g.6248415T>C | CA362740469 | F13A1 | c.695A>G (p.Glu232Gly) c.857A>G (p.Glu286Gly) | gnomAD v4 |
| 6 | g.6248415T>G | CA362740470 | F13A1 | c.695A>C (p.Glu232Ala) c.857A>C (p.Glu286Ala) | |
| 6 | g.6248416C>A | CA362740471 | F13A1 | c.694G>T (p.Glu232Ter) c.856G>T (p.Glu286Ter) | |
| 6 | g.6248416C>G | CA362740472 | F13A1 | c.694G>C (p.Glu232Gln) c.856G>C (p.Glu286Gln) | |
| 6 | g.6248416C>T | CA362740473 | F13A1 | c.694G>A (p.Glu232Lys) c.856G>A (p.Glu286Lys) | |
| 6 | g.6248417A>C | CA362740474 | F13A1 | c.693T>G (p.Phe231Leu) c.855T>G (p.Phe285Leu) | |
| 6 | g.6248417A>G | CA448645967 | F13A1 | c.693T>C (p.Phe231=) c.855T>C (p.Phe285=) | |
| 6 | g.6248417A>T | CA362740475 | F13A1 | c.693T>A (p.Phe231Leu) c.855T>A (p.Phe285Leu) | |
| 6 | g.6248418A>C | CA362740476 | F13A1 | c.692T>G (p.Phe231Cys) c.854T>G (p.Phe285Cys) | |
| 6 | g.6248418A>G | CA362740477 | F13A1 | c.692T>C (p.Phe231Ser) c.854T>C (p.Phe285Ser) | |
| 6 | g.6248418A>T | CA362740478 | F13A1 | c.692T>A (p.Phe231Tyr) c.854T>A (p.Phe285Tyr) | |
| 6 | g.6248419A>C | CA362740479 | F13A1 | c.691T>G (p.Phe231Val) c.853T>G (p.Phe285Val) | |
| 6 | g.6248419A>G | CA362740480 | F13A1 | c.691T>C (p.Phe231Leu) c.853T>C (p.Phe285Leu) | |
| 6 | g.6248419A>T | CA362740481 | F13A1 | c.691T>A (p.Phe231Ile) c.853T>A (p.Phe285Ile) | ClinVar |
| 6 | g.6248420C>A | CA362740482 | F13A1 | c.691-1G>T (n.691-1G>T) c.853-1G>T (n.853-1G>T) | |
| 6 | g.6248420C= | CA1608002859 | F13A1 | c.691-1G= (n.691-1G=) c.853-1G= (n.853-1G=) | |
| 6 | g.6248420C>G | CA362740483 | F13A1 | c.691-1G>C (n.691-1G>C) c.853-1G>C (n.853-1G>C) | gnomAD v4 |
| 6 | g.6248420C>T | CA3624570 | F13A1 | c.691-1G>A (n.691-1G>A) c.853-1G>A (n.853-1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6248421T>A | CA362740484 | F13A1 | c.691-2A>T (n.691-2A>T) c.853-2A>T (n.853-2A>T) | |
| 6 | g.6248421T>C | CA362740485 | F13A1 | c.691-2A>G (n.691-2A>G) c.853-2A>G (n.853-2A>G) | gnomAD v4 |
| 6 | g.6248421T>G | CA362740486 | F13A1 | c.691-2A>C (n.691-2A>C) c.853-2A>C (n.853-2A>C) | |
| 6 | g.6248422A>G | CA2578524926 | F13A1 | c.691-3T>C (n.691-3T>C) c.853-3T>C (n.853-3T>C) | dbSNP |
| 6 | g.6248424T>C | CA1608002861 | F13A1 | c.691-5A>G (n.691-5A>G) c.853-5A>G (n.853-5A>G) | dbSNP gnomAD v4 |
| 6 | g.6248424T= | CA1608002860 | F13A1 | c.691-5A= (n.691-5A=) c.853-5A= (n.853-5A=) | |
| 6 | g.6248425T>C | CA3624571 | F13A1 | c.691-6A>G (n.691-6A>G) c.853-6A>G (n.853-6A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.6248425T= | CA1608002862 | F13A1 | c.691-6A= (n.691-6A=) c.853-6A= (n.853-6A=) | |
| 6 | g.6248427G>A | CA2677191827 | F13A1 | c.691-8C>T (n.691-8C>T) c.853-8C>T (n.853-8C>T) | gnomAD v4 |
| 6 | g.6248427G>C | CA2677191828 | F13A1 | c.691-8C>G (n.691-8C>G) c.853-8C>G (n.853-8C>G) | gnomAD v4 |
| 6 | g.6248431A>T | CA2677191829 | F13A1 | c.691-12T>A (n.691-12T>A) c.853-12T>A (n.853-12T>A) | gnomAD v4 |
| 6 | g.6248432A>G | CA2677191830 | F13A1 | c.691-13T>C (n.691-13T>C) c.853-13T>C (n.853-13T>C) | gnomAD v4 |
| 6 | g.6248433G>A | CA565293297 | F13A1 | c.691-14C>T (n.691-14C>T) c.853-14C>T (n.853-14C>T) | dbSNP gnomAD v2 |
| 6 | g.6248433G>C | CA1608002864 | F13A1 | c.691-14C>G (n.691-14C>G) c.853-14C>G (n.853-14C>G) | dbSNP gnomAD v4 |
| 6 | g.6248433G= | CA1608002863 | F13A1 | c.691-14C= (n.691-14C=) c.853-14C= (n.853-14C=) | |
| 6 | g.6248433G>T | CA134394030 | F13A1 | c.691-14C>A (n.691-14C>A) c.853-14C>A (n.853-14C>A) | dbSNP gnomAD v4 |
| 6 | g.6248434A= | CA1608002865 | F13A1 | c.691-15T= (n.691-15T=) c.853-15T= (n.853-15T=) | |
| 6 | g.6248434A>G | CA2578524927 | F13A1 | c.691-15T>C (n.691-15T>C) c.853-15T>C (n.853-15T>C) | |
| 6 | g.6248434A>T | CA3624572 | F13A1 | c.691-15T>A (n.691-15T>A) c.853-15T>A (n.853-15T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |