| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.153954642G>A | CA10557137 | HCFC1 | c.3757C>T (p.Arg1253Cys) c.3559C>T (p.Arg1187Cys) c.2848C>T (p.Arg950Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954642G>C | CA415119547 | HCFC1 | c.3757C>G (p.Arg1253Gly) c.3559C>G (p.Arg1187Gly) c.2848C>G (p.Arg950Gly) | |
| X | g.153954642G= | CA2466540216 | HCFC1 | c.3757C= (p.Arg1253=) c.3559C= (p.Arg1187=) c.2848C= (p.Arg950=) | |
| X | g.153954642G>T | CA415119549 | HCFC1 | c.3757C>A (p.Arg1253Ser) c.3559C>A (p.Arg1187Ser) c.2848C>A (p.Arg950Ser) | |
| X | g.153954643G>A | CA519702342 | HCFC1 | c.3756C>T (p.Pro1252=) c.3558C>T (p.Pro1186=) c.2847C>T (p.Pro949=) | |
| X | g.153954643G>C | CA519702341 | HCFC1 | c.3756C>G (p.Pro1252=) c.3558C>G (p.Pro1186=) c.2847C>G (p.Pro949=) | gnomAD v4 |
| X | g.153954643G>T | CA519702340 | HCFC1 | c.3756C>A (p.Pro1252=) c.3558C>A (p.Pro1186=) c.2847C>A (p.Pro949=) | ClinVar gnomAD v4 |
| X | g.153954644G>A | CA415119551 | HCFC1 | c.3755C>T (p.Pro1252Leu) c.3557C>T (p.Pro1186Leu) c.2846C>T (p.Pro949Leu) | |
| X | g.153954644G>C | CA415119553 | HCFC1 | c.3755C>G (p.Pro1252Arg) c.3557C>G (p.Pro1186Arg) c.2846C>G (p.Pro949Arg) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.153954644G= | CA2466540217 | HCFC1 | c.3755C= (p.Pro1252=) c.3557C= (p.Pro1186=) c.2846C= (p.Pro949=) | |
| X | g.153954644G>T | CA415119556 | HCFC1 | c.3755C>A (p.Pro1252His) c.3557C>A (p.Pro1186His) c.2846C>A (p.Pro949His) | |
| X | g.153954645G>A | CA10557138 | HCFC1 | c.3754C>T (p.Pro1252Ser) c.3556C>T (p.Pro1186Ser) c.2845C>T (p.Pro949Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954645G>C | CA415119562 | HCFC1 | c.3754C>G (p.Pro1252Ala) c.3556C>G (p.Pro1186Ala) c.2845C>G (p.Pro949Ala) | |
| X | g.153954645G= | CA2466540218 | HCFC1 | c.3754C= (p.Pro1252=) c.3556C= (p.Pro1186=) c.2845C= (p.Pro949=) | |
| X | g.153954645G>T | CA415119561 | HCFC1 | c.3754C>A (p.Pro1252Thr) c.3556C>A (p.Pro1186Thr) c.2845C>A (p.Pro949Thr) | |
| X | g.153954646C>A | CA415119564 | HCFC1 | c.3753G>T (p.Glu1251Asp) c.3555G>T (p.Glu1185Asp) c.2844G>T (p.Glu948Asp) | |
| X | g.153954646C>G | CA415119566 | HCFC1 | c.3753G>C (p.Glu1251Asp) c.3555G>C (p.Glu1185Asp) c.2844G>C (p.Glu948Asp) | |
| X | g.153954646C>T | CA519702349 | HCFC1 | c.3753G>A (p.Glu1251=) c.3555G>A (p.Glu1185=) c.2844G>A (p.Glu948=) | |
| X | g.153954647T>A | CA415119569 | HCFC1 | c.3752A>T (p.Glu1251Val) c.3554A>T (p.Glu1185Val) c.2843A>T (p.Glu948Val) | |
| X | g.153954647T>C | CA415119571 | HCFC1 | c.3752A>G (p.Glu1251Gly) c.3554A>G (p.Glu1185Gly) c.2843A>G (p.Glu948Gly) | ClinVar |
| X | g.153954647T>G | CA415119572 | HCFC1 | c.3752A>C (p.Glu1251Ala) c.3554A>C (p.Glu1185Ala) c.2843A>C (p.Glu948Ala) | |
| X | g.153954648C>A | CA415119575 | HCFC1 | c.3751G>T (p.Glu1251Ter) c.3553G>T (p.Glu1185Ter) c.2842G>T (p.Glu948Ter) | |
| X | g.153954648C>G | CA415119577 | HCFC1 | c.3751G>C (p.Glu1251Gln) c.3553G>C (p.Glu1185Gln) c.2842G>C (p.Glu948Gln) | |
| X | g.153954648C>T | CA415119579 | HCFC1 | c.3751G>A (p.Glu1251Lys) c.3553G>A (p.Glu1185Lys) c.2842G>A (p.Glu948Lys) | |
| X | g.153954651del | CA2579735262 | HCFC1 | c.3751del (p.Glu1251SerfsTer20) c.3553del (p.Glu1185SerfsTer20) c.2842del (p.Glu948SerfsTer20) | |
| X | g.153954649C>A | CA519702354 | HCFC1 | c.3750G>T (p.Gly1250=) c.3552G>T (p.Gly1184=) c.2841G>T (p.Gly947=) | |
| X | g.153954649C>G | CA519702357 | HCFC1 | c.3750G>C (p.Gly1250=) c.3552G>C (p.Gly1184=) c.2841G>C (p.Gly947=) | |
| X | g.153954649C>T | CA519702359 | HCFC1 | c.3750G>A (p.Gly1250=) c.3552G>A (p.Gly1184=) c.2841G>A (p.Gly947=) | |
| X | g.153954650C>A | CA415119581 | HCFC1 | c.3749G>T (p.Gly1250Val) c.3551G>T (p.Gly1184Val) c.2840G>T (p.Gly947Val) | gnomAD v4 |
| X | g.153954650C= | CA2466540219 | HCFC1 | c.3749G= (p.Gly1250=) c.3551G= (p.Gly1184=) c.2840G= (p.Gly947=) | |
| X | g.153954650C>G | CA415119582 | HCFC1 | c.3749G>C (p.Gly1250Ala) c.3551G>C (p.Gly1184Ala) c.2840G>C (p.Gly947Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153954650C>T | CA415119584 | HCFC1 | c.3749G>A (p.Gly1250Glu) c.3551G>A (p.Gly1184Glu) c.2840G>A (p.Gly947Glu) | |
| X | g.153954651C>A | CA415119591 | HCFC1 | c.3748G>T (p.Gly1250Trp) c.3550G>T (p.Gly1184Trp) c.2839G>T (p.Gly947Trp) | |
| X | g.153954651C= | CA2466540220 | HCFC1 | c.3748G= (p.Gly1250=) c.3550G= (p.Gly1184=) c.2839G= (p.Gly947=) | |
| X | g.153954651C>G | CA415119589 | HCFC1 | c.3748G>C (p.Gly1250Arg) c.3550G>C (p.Gly1184Arg) c.2839G>C (p.Gly947Arg) | |
| X | g.153954651C>T | CA337252709 | HCFC1 | c.3748G>A (p.Gly1250Arg) c.3550G>A (p.Gly1184Arg) c.2839G>A (p.Gly947Arg) | dbSNP |
| X | g.153954652A>C | CA519702366 | HCFC1 | c.3747T>G (p.Ala1249=) c.3549T>G (p.Ala1183=) c.2838T>G (p.Ala946=) | |
| X | g.153954652A>G | CA519702368 | HCFC1 | c.3747T>C (p.Ala1249=) c.3549T>C (p.Ala1183=) c.2838T>C (p.Ala946=) | |
| X | g.153954652A>T | CA519702369 | HCFC1 | c.3747T>A (p.Ala1249=) c.3549T>A (p.Ala1183=) c.2838T>A (p.Ala946=) | |
| X | g.153954653G>A | CA415119594 | HCFC1 | c.3746C>T (p.Ala1249Val) c.3548C>T (p.Ala1183Val) c.2837C>T (p.Ala946Val) | |
| X | g.153954653G>C | CA415119597 | HCFC1 | c.3746C>G (p.Ala1249Gly) c.3548C>G (p.Ala1183Gly) c.2837C>G (p.Ala946Gly) | |
| X | g.153954653G>T | CA415119599 | HCFC1 | c.3746C>A (p.Ala1249Asp) c.3548C>A (p.Ala1183Asp) c.2837C>A (p.Ala946Asp) | |
| X | g.153954654C>A | CA415119601 | HCFC1 | c.3745G>T (p.Ala1249Ser) c.3547G>T (p.Ala1183Ser) c.2836G>T (p.Ala946Ser) | |
| X | g.153954654C>G | CA415119604 | HCFC1 | c.3745G>C (p.Ala1249Pro) c.3547G>C (p.Ala1183Pro) c.2836G>C (p.Ala946Pro) | |
| X | g.153954654C>T | CA415119607 | HCFC1 | c.3745G>A (p.Ala1249Thr) c.3547G>A (p.Ala1183Thr) c.2836G>A (p.Ala946Thr) | gnomAD v4 |
| X | g.153954655A>C | CA519702378 | HCFC1 | c.3744T>G (p.Gly1248=) c.3546T>G (p.Gly1182=) c.2835T>G (p.Gly945=) | |
| X | g.153954655A>G | CA519702380 | HCFC1 | c.3744T>C (p.Gly1248=) c.3546T>C (p.Gly1182=) c.2835T>C (p.Gly945=) | |
| X | g.153954655A>T | CA519702381 | HCFC1 | c.3744T>A (p.Gly1248=) c.3546T>A (p.Gly1182=) c.2835T>A (p.Gly945=) | ClinVar |
| X | g.153954656C>A | CA415119608 | HCFC1 | c.3743G>T (p.Gly1248Val) c.3545G>T (p.Gly1182Val) c.2834G>T (p.Gly945Val) | |
| X | g.153954656C= | CA2466540221 | HCFC1 | c.3743G= (p.Gly1248=) c.3545G= (p.Gly1182=) c.2834G= (p.Gly945=) |