Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.33438744_33438813del | CA2652477972 | SNTA1 | c.496+37_496+106del (n.496+37_496+106del) n.729+37_729+106del c.169+37_169+106del (n.169+37_169+106del) | gnomAD v4 |
20 | g.33438785G>A | CA2514230442 | SNTA1 | c.496+56C>T (n.496+56C>T) n.729+56C>T c.169+56C>T (n.169+56C>T) | |
20 | g.33438785G>C | CA2652478017 | SNTA1 | c.496+56C>G (n.496+56C>G) n.729+56C>G c.169+56C>G (n.169+56C>G) | gnomAD v4 |
20 | g.33438787A= | CA2360753039 | SNTA1 | c.496+54T= (n.496+54T=) n.729+54T= c.169+54T= (n.169+54T=) | |
20 | g.33438787A>C | CA2360753040 | SNTA1 | c.496+54T>G (n.496+54T>G) n.729+54T>G c.169+54T>G (n.169+54T>G) | dbSNP gnomAD v4 |
20 | g.33438788G>T | CA2577372651 | SNTA1 | c.496+53C>A (n.496+53C>A) n.729+53C>A c.169+53C>A (n.169+53C>A) | gnomAD v4 |
20 | g.33438791G>T | CA2577372652 | SNTA1 | c.496+50C>A (n.496+50C>A) n.729+50C>A c.169+50C>A (n.169+50C>A) | gnomAD v4 |
20 | g.33438792T>A | CA2652478018 | SNTA1 | c.496+49A>T (n.496+49A>T) n.729+49A>T c.169+49A>T (n.169+49A>T) | gnomAD v4 |
20 | g.33438793G>T | CA2652478019 | SNTA1 | c.496+48C>A (n.496+48C>A) n.729+48C>A c.169+48C>A (n.169+48C>A) | gnomAD v4 |
20 | g.33438794G>T | CA2652478020 | SNTA1 | c.496+47C>A (n.496+47C>A) n.729+47C>A c.169+47C>A (n.169+47C>A) | gnomAD v4 |
20 | g.33438797C>T | CA2652478021 | SNTA1 | c.496+44G>A (n.496+44G>A) n.729+44G>A c.169+44G>A (n.169+44G>A) | gnomAD v4 |
20 | g.33438798A= | CA2360753041 | SNTA1 | c.496+43T= (n.496+43T=) n.729+43T= c.169+43T= (n.169+43T=) | |
20 | g.33438798A>C | CA2360753042 | SNTA1 | c.496+43T>G (n.496+43T>G) n.729+43T>G c.169+43T>G (n.169+43T>G) | dbSNP |
20 | g.33438799C>T | CA2577372653 | SNTA1 | c.496+42G>A (n.496+42G>A) n.729+42G>A c.169+42G>A (n.169+42G>A) | gnomAD v4 |
20 | g.33438800C= | CA2360753043 | SNTA1 | c.496+41G= (n.496+41G=) n.729+41G= c.169+41G= (n.169+41G=) | |
20 | g.33438800C>G | CA9817216 | SNTA1 | c.496+41G>C (n.496+41G>C) n.729+41G>C c.169+41G>C (n.169+41G>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
20 | g.33438801T>G | CA2577372654 | SNTA1 | c.496+40A>C (n.496+40A>C) n.729+40A>C c.169+40A>C (n.169+40A>C) | |
20 | g.33438802C>A | CA2652478023 | SNTA1 | c.496+39G>T (n.496+39G>T) n.729+39G>T c.169+39G>T (n.169+39G>T) | gnomAD v4 |
20 | g.33438802C>T | CA2652478022 | SNTA1 | c.496+39G>A (n.496+39G>A) n.729+39G>A c.169+39G>A (n.169+39G>A) | gnomAD v4 |
20 | g.33438803C= | CA2360753044 | SNTA1 | c.496+38G= (n.496+38G=) n.729+38G= c.169+38G= (n.169+38G=) | |
20 | g.33438803C>T | CA9817217 | SNTA1 | c.496+38G>A (n.496+38G>A) n.729+38G>A c.169+38G>A (n.169+38G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.33438805C>T | CA2652478024 | SNTA1 | c.496+36G>A (n.496+36G>A) n.729+36G>A c.169+36G>A (n.169+36G>A) | gnomAD v4 |
20 | g.33438806C>T | CA2652478025 | SNTA1 | c.496+35G>A (n.496+35G>A) n.729+35G>A c.169+35G>A (n.169+35G>A) | gnomAD v4 |
20 | g.33438807C= | CA2360753045 | SNTA1 | c.496+34G= (n.496+34G=) n.729+34G= c.169+34G= (n.169+34G=) | |
20 | g.33438807C>T | CA743727023 | SNTA1 | c.496+34G>A (n.496+34G>A) n.729+34G>A c.169+34G>A (n.169+34G>A) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.33438808A>T | CA2652478026 | SNTA1 | c.496+33T>A (n.496+33T>A) n.729+33T>A c.169+33T>A (n.169+33T>A) | gnomAD v4 |
20 | g.33438809G>A | CA2652478027 | SNTA1 | c.496+32C>T (n.496+32C>T) n.729+32C>T c.169+32C>T (n.169+32C>T) | gnomAD v4 |
20 | g.33438809G>T | CA2652478028 | SNTA1 | c.496+32C>A (n.496+32C>A) n.729+32C>A c.169+32C>A (n.169+32C>A) | gnomAD v4 |
20 | g.33438810C>A | CA635719739 | SNTA1 | c.496+31G>T (n.496+31G>T) n.729+31G>T c.169+31G>T (n.169+31G>T) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.33438810C= | CA2360753046 | SNTA1 | c.496+31G= (n.496+31G=) n.729+31G= c.169+31G= (n.169+31G=) | |
20 | g.33438810C>T | CA2652478029 | SNTA1 | c.496+31G>A (n.496+31G>A) n.729+31G>A c.169+31G>A (n.169+31G>A) | gnomAD v4 |
20 | g.33438811C>A | CA2360753048 | SNTA1 | c.496+30G>T (n.496+30G>T) n.729+30G>T c.169+30G>T (n.169+30G>T) | dbSNP gnomAD v4 |
20 | g.33438811C= | CA2360753047 | SNTA1 | c.496+30G= (n.496+30G=) n.729+30G= c.169+30G= (n.169+30G=) | |
20 | g.33438812C>T | CA2652478030 | SNTA1 | c.496+29G>A (n.496+29G>A) n.729+29G>A c.169+29G>A (n.169+29G>A) | gnomAD v4 |
20 | g.33438813C>G | CA2652478031 | SNTA1 | c.496+28G>C (n.496+28G>C) n.729+28G>C c.169+28G>C (n.169+28G>C) | gnomAD v4 |
20 | g.33438814T>C | CA2652478032 | SNTA1 | c.496+27A>G (n.496+27A>G) n.729+27A>G c.169+27A>G (n.169+27A>G) | gnomAD v4 |
20 | g.33438816T>C | CA2652478033 | SNTA1 | c.496+25A>G (n.496+25A>G) n.729+25A>G c.169+25A>G (n.169+25A>G) | gnomAD v4 |
20 | g.33438819A>G | CA2577372655 | SNTA1 | c.496+22T>C (n.496+22T>C) n.729+22T>C c.169+22T>C (n.169+22T>C) | |
20 | g.33438820C= | CA2360753049 | SNTA1 | c.496+21G= (n.496+21G=) n.729+21G= c.169+21G= (n.169+21G=) | |
20 | g.33438820C>T | CA313275579 | SNTA1 | c.496+21G>A (n.496+21G>A) n.729+21G>A c.169+21G>A (n.169+21G>A) | dbSNP gnomAD v4 |
20 | g.33438821C>A | CA635719740 | SNTA1 | c.496+20G>T (n.496+20G>T) n.729+20G>T c.169+20G>T (n.169+20G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33438821C= | CA2360753050 | SNTA1 | c.496+20G= (n.496+20G=) n.729+20G= c.169+20G= (n.169+20G=) | |
20 | g.33438821C>G | CA2577372656 | SNTA1 | c.496+20G>C (n.496+20G>C) n.729+20G>C c.169+20G>C (n.169+20G>C) | |
20 | g.33438822C>G | CA2816180426 | SNTA1 | c.496+19G>C (n.496+19G>C) n.729+19G>C c.169+19G>C (n.169+19G>C) | |
20 | g.33438823T>G | CA2652478034 | SNTA1 | c.496+18A>C (n.496+18A>C) n.729+18A>C c.169+18A>C (n.169+18A>C) | gnomAD v4 |
20 | g.33438824G>A | CA9817218 | SNTA1 | c.496+17C>T (n.496+17C>T) n.729+17C>T c.169+17C>T (n.169+17C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33438824G= | CA2360753051 | SNTA1 | c.496+17C= (n.496+17C=) n.729+17C= c.169+17C= (n.169+17C=) | |
20 | g.33438824G>T | CA2577372657 | SNTA1 | c.496+17C>A (n.496+17C>A) n.729+17C>A c.169+17C>A (n.169+17C>A) | |
20 | g.33438825G>A | CA2652478035 | SNTA1 | c.496+16C>T (n.496+16C>T) n.729+16C>T c.169+16C>T (n.169+16C>T) | gnomAD v4 |
20 | g.33438825G>T | CA2652478036 | SNTA1 | c.496+16C>A (n.496+16C>A) n.729+16C>A c.169+16C>A (n.169+16C>A) | gnomAD v4 |
20 | g.33438826A>G | CA2652478037 | SNTA1 | c.496+15T>C (n.496+15T>C) n.729+15T>C c.169+15T>C (n.169+15T>C) | gnomAD v4 |
20 | g.33438828C>A | CA743727044 | SNTA1 | c.496+13G>T (n.496+13G>T) n.729+13G>T c.169+13G>T (n.169+13G>T) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.33438828C= | CA2360753052 | SNTA1 | c.496+13G= (n.496+13G=) n.729+13G= c.169+13G= (n.169+13G=) | |
20 | g.33438828C>T | CA9817219 | SNTA1 | c.496+13G>A (n.496+13G>A) n.729+13G>A c.169+13G>A (n.169+13G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
20 | g.33438829G>A | CA9817220 | SNTA1 | c.496+12C>T (n.496+12C>T) n.729+12C>T c.169+12C>T (n.169+12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33438829G= | CA2360753053 | SNTA1 | c.496+12C= (n.496+12C=) n.729+12C= c.169+12C= (n.169+12C=) | |
20 | g.33438834T>C | CA2360753055 | SNTA1 | c.496+7A>G (n.496+7A>G) n.729+7A>G c.169+7A>G (n.169+7A>G) | ClinVar dbSNP |
20 | g.33438834T= | CA2360753054 | SNTA1 | c.496+7A= (n.496+7A=) n.729+7A= c.169+7A= (n.169+7A=) | |
20 | g.33438835G>A | CA2577372658 | SNTA1 | c.496+6C>T (n.496+6C>T) n.729+6C>T c.169+6C>T (n.169+6C>T) | gnomAD v4 |
20 | g.33438836C>A | CA2652478038 | SNTA1 | c.496+5G>T (n.496+5G>T) n.729+5G>T c.169+5G>T (n.169+5G>T) | gnomAD v4 |
20 | g.33438838T>C | CA9817221 | SNTA1 | c.496+3A>G (n.496+3A>G) n.729+3A>G c.169+3A>G (n.169+3A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.33438838T= | CA2360753056 | SNTA1 | c.496+3A= (n.496+3A=) n.729+3A= c.169+3A= (n.169+3A=) | |
20 | g.33438839A= | CA2360753057 | SNTA1 | c.496+2T= (n.496+2T=) n.729+2T= c.169+2T= (n.169+2T=) | |
20 | g.33438839A>C | CA408633283 | SNTA1 | c.496+2T>G (n.496+2T>G) n.729+2T>G c.169+2T>G (n.169+2T>G) | dbSNP |
20 | g.33438839A>G | CA408633284 | SNTA1 | c.496+2T>C (n.496+2T>C) n.729+2T>C c.169+2T>C (n.169+2T>C) | |
20 | g.33438839A>T | CA408633285 | SNTA1 | c.496+2T>A (n.496+2T>A) n.729+2T>A c.169+2T>A (n.169+2T>A) | |
20 | g.33438840C>A | CA408633286 | SNTA1 | c.496+1G>T (n.496+1G>T) n.729+1G>T c.169+1G>T (n.169+1G>T) | |
20 | g.33438840C>G | CA408633287 | SNTA1 | c.496+1G>C (n.496+1G>C) n.729+1G>C c.169+1G>C (n.169+1G>C) | |
20 | g.33438840C>T | CA408633288 | SNTA1 | c.496+1G>A (n.496+1G>A) n.729+1G>A c.169+1G>A (n.169+1G>A) | |
20 | g.33438841C>A | CA9817222 | SNTA1 | c.496G>T (p.Val166Phe) n.729G>T c.169G>T (p.Val57Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.33438841C= | CA2360753058 | SNTA1 | c.496G= (p.Val166=) n.729G= c.169G= (p.Val57=) | |
20 | g.33438841C>G | CA408633289 | SNTA1 | c.496G>C (p.Val166Leu) n.729G>C c.169G>C (p.Val57Leu) | |
20 | g.33438841C>T | CA408633290 | SNTA1 | c.496G>A (p.Val166Ile) n.729G>A c.169G>A (p.Val57Ile) | |
20 | g.33438842C>A | CA408633291 | SNTA1 | c.495G>T (p.Glu165Asp) n.728G>T c.168G>T (p.Glu56Asp) | |
20 | g.33438842C>G | CA408633292 | SNTA1 | c.495G>C (p.Glu165Asp) n.728G>C c.168G>C (p.Glu56Asp) | |
20 | g.33438842C>T | CA510252140 | SNTA1 | c.495G>A (p.Glu165=) n.728G>A c.168G>A (p.Glu56=) | gnomAD v4 |
20 | g.33438843T>A | CA408633295 | SNTA1 | c.494A>T (p.Glu165Val) n.727A>T c.167A>T (p.Glu56Val) | |
20 | g.33438843T>C | CA408633294 | SNTA1 | c.494A>G (p.Glu165Gly) n.727A>G c.167A>G (p.Glu56Gly) | |
20 | g.33438843T>G | CA408633293 | SNTA1 | c.494A>C (p.Glu165Ala) n.727A>C c.167A>C (p.Glu56Ala) | |
20 | g.33438844C>A | CA408633296 | SNTA1 | c.493G>T (p.Glu165Ter) n.726G>T c.166G>T (p.Glu56Ter) | |
20 | g.33438844C>G | CA408633297 | SNTA1 | c.493G>C (p.Glu165Gln) n.726G>C c.166G>C (p.Glu56Gln) | |
20 | g.33438844C>T | CA408633298 | SNTA1 | c.493G>A (p.Glu165Lys) n.726G>A c.166G>A (p.Glu56Lys) | |
20 | g.33438847_33438945del | CA2652478039 | SNTA1 | c.395_493del (p.Gly132_Leu164del) n.628_726del c.68_166del (p.Gly23_Leu55del) | gnomAD v4 |
20 | g.33438845C>A | CA510252144 | SNTA1 | c.492G>T (p.Leu164=) n.725G>T c.165G>T (p.Leu55=) | |
20 | g.33438845C= | CA2360753059 | SNTA1 | c.492G= (p.Leu164=) n.725G= c.165G= (p.Leu55=) | |
20 | g.33438845C>G | CA510252146 | SNTA1 | c.492G>C (p.Leu164=) n.725G>C c.165G>C (p.Leu55=) | |
20 | g.33438845C>T | CA313275601 | SNTA1 | c.492G>A (p.Leu164=) n.725G>A c.165G>A (p.Leu55=) | dbSNP gnomAD v4 |
20 | g.33438846A>C | CA408633299 | SNTA1 | c.491T>G (p.Leu164Arg) n.724T>G c.164T>G (p.Leu55Arg) | |
20 | g.33438846A>G | CA408633300 | SNTA1 | c.491T>C (p.Leu164Pro) n.724T>C c.164T>C (p.Leu55Pro) | |
20 | g.33438846A>T | CA408633301 | SNTA1 | c.491T>A (p.Leu164Gln) n.724T>A c.164T>A (p.Leu55Gln) | |
20 | g.33438847G>A | CA510252147 | SNTA1 | c.490C>T (p.Leu164=) n.723C>T c.163C>T (p.Leu55=) | |
20 | g.33438847G>C | CA408633302 | SNTA1 | c.490C>G (p.Leu164Val) n.723C>G c.163C>G (p.Leu55Val) | |
20 | g.33438847G>T | CA408633303 | SNTA1 | c.490C>A (p.Leu164Met) n.723C>A c.163C>A (p.Leu55Met) | |
20 | g.33438848C>A | CA510252148 | SNTA1 | c.489G>T (p.Val163=) n.722G>T c.162G>T (p.Val54=) | |
20 | g.33438848C>G | CA510252149 | SNTA1 | c.489G>C (p.Val163=) n.722G>C c.162G>C (p.Val54=) | |
20 | g.33438848C>T | CA510252150 | SNTA1 | c.489G>A (p.Val163=) n.722G>A c.162G>A (p.Val54=) | gnomAD v4 |
20 | g.33438849A>C | CA408633304 | SNTA1 | c.488T>G (p.Val163Gly) n.721T>G c.161T>G (p.Val54Gly) | |
20 | g.33438849A>G | CA408633305 | SNTA1 | c.488T>C (p.Val163Ala) n.721T>C c.161T>C (p.Val54Ala) | |
20 | g.33438849A>T | CA408633306 | SNTA1 | c.488T>A (p.Val163Glu) n.721T>A c.161T>A (p.Val54Glu) | |
20 | g.33438850C>A | CA408633308 | SNTA1 | c.487G>T (p.Val163Leu) n.720G>T c.160G>T (p.Val54Leu) | |
20 | g.33438850C>G | CA408633309 | SNTA1 | c.487G>C (p.Val163Leu) n.720G>C c.160G>C (p.Val54Leu) | |
20 | g.33438850C>T | CA408633307 | SNTA1 | c.487G>A (p.Val163Met) n.720G>A c.160G>A (p.Val54Met) | |
20 | g.33438851C>A | CA510252152 | SNTA1 | c.486G>T (p.Val162=) n.719G>T c.159G>T (p.Val53=) | |
20 | g.33438851C>G | CA510252153 | SNTA1 | c.486G>C (p.Val162=) n.719G>C c.159G>C (p.Val53=) | |
20 | g.33438851C>T | CA510252154 | SNTA1 | c.486G>A (p.Val162=) n.719G>A c.159G>A (p.Val53=) | |
20 | g.33438852A= | CA2360753060 | SNTA1 | c.485T= (p.Val162=) n.718T= c.158T= (p.Val53=) | |
20 | g.33438852A>C | CA408633310 | SNTA1 | c.485T>G (p.Val162Gly) n.718T>G c.158T>G (p.Val53Gly) | dbSNP |
20 | g.33438852A>G | CA408633311 | SNTA1 | c.485T>C (p.Val162Ala) n.718T>C c.158T>C (p.Val53Ala) | |
20 | g.33438852A>T | CA408633312 | SNTA1 | c.485T>A (p.Val162Glu) n.718T>A c.158T>A (p.Val53Glu) | |
20 | g.33438853C>A | CA408633313 | SNTA1 | c.484G>T (p.Val162Leu) n.717G>T c.157G>T (p.Val53Leu) | gnomAD v4 |
20 | g.33438853C= | CA2360753061 | SNTA1 | c.484G= (p.Val162=) n.717G= c.157G= (p.Val53=) | |
20 | g.33438853C>G | CA408633314 | SNTA1 | c.484G>C (p.Val162Leu) n.717G>C c.157G>C (p.Val53Leu) | |
20 | g.33438853C>T | CA408633315 | SNTA1 | c.484G>A (p.Val162Met) n.717G>A c.157G>A (p.Val53Met) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.33438854C>A | CA408633316 | SNTA1 | c.483G>T (p.Glu161Asp) n.716G>T c.156G>T (p.Glu52Asp) | gnomAD v4 |
20 | g.33438854C>G | CA408633317 | SNTA1 | c.483G>C (p.Glu161Asp) n.716G>C c.156G>C (p.Glu52Asp) | |
20 | g.33438854C>T | CA510252156 | SNTA1 | c.483G>A (p.Glu161=) n.716G>A c.156G>A (p.Glu52=) | gnomAD v4 |
20 | g.33438855T>A | CA408633318 | SNTA1 | c.482A>T (p.Glu161Val) n.715A>T c.155A>T (p.Glu52Val) | |
20 | g.33438855T>C | CA408633319 | SNTA1 | c.482A>G (p.Glu161Gly) n.715A>G c.155A>G (p.Glu52Gly) | |
20 | g.33438855T>G | CA408633320 | SNTA1 | c.482A>C (p.Glu161Ala) n.715A>C c.155A>C (p.Glu52Ala) | |
20 | g.33438856C>A | CA408633321 | SNTA1 | c.481G>T (p.Glu161Ter) n.714G>T c.154G>T (p.Glu52Ter) | |
20 | g.33438856C>G | CA408633322 | SNTA1 | c.481G>C (p.Glu161Gln) n.714G>C c.154G>C (p.Glu52Gln) | |
20 | g.33438856C>T | CA408633323 | SNTA1 | c.481G>A (p.Glu161Lys) n.714G>A c.154G>A (p.Glu52Lys) | |
20 | g.33438857C>A | CA408633324 | SNTA1 | c.480G>T (p.Lys160Asn) n.713G>T c.153G>T (p.Lys51Asn) | |
20 | g.33438857C= | CA2360753062 | SNTA1 | c.480G= (p.Lys160=) n.713G= c.153G= (p.Lys51=) | |
20 | g.33438857C>G | CA408633325 | SNTA1 | c.480G>C (p.Lys160Asn) n.713G>C c.153G>C (p.Lys51Asn) | |
20 | g.33438857C>T | CA510252160 | SNTA1 | c.480G>A (p.Lys160=) n.713G>A c.153G>A (p.Lys51=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.33438858T>A | CA408633326 | SNTA1 | c.479A>T (p.Lys160Met) n.712A>T c.152A>T (p.Lys51Met) | |
20 | g.33438858T>C | CA408633327 | SNTA1 | c.479A>G (p.Lys160Arg) n.712A>G c.152A>G (p.Lys51Arg) | |
20 | g.33438858T>G | CA408633328 | SNTA1 | c.479A>C (p.Lys160Thr) n.712A>C c.152A>C (p.Lys51Thr) | |
20 | g.33438859T>A | CA408633329 | SNTA1 | c.478A>T (p.Lys160Ter) n.711A>T c.151A>T (p.Lys51Ter) | |
20 | g.33438859T>C | CA313275606 | SNTA1 | c.478A>G (p.Lys160Glu) n.711A>G c.151A>G (p.Lys51Glu) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.33438859T>G | CA408633330 | SNTA1 | c.478A>C (p.Lys160Gln) n.711A>C c.151A>C (p.Lys51Gln) | |
20 | g.33438859T= | CA2360753063 | SNTA1 | c.478A= (p.Lys160=) n.711A= c.151A= (p.Lys51=) | |
20 | g.33438860G>A | CA510252163 | SNTA1 | c.477C>T (p.Gly159=) n.710C>T c.150C>T (p.Gly50=) | |
20 | g.33438860G>C | CA510252164 | SNTA1 | c.477C>G (p.Gly159=) n.710C>G c.150C>G (p.Gly50=) | |
20 | g.33438860G= | CA2360753064 | SNTA1 | c.477C= (p.Gly159=) n.710C= c.150C= (p.Gly50=) | |
20 | g.33438860G>T | CA510252165 | SNTA1 | c.477C>A (p.Gly159=) n.710C>A c.150C>A (p.Gly50=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.33438861C>A | CA408633331 | SNTA1 | c.476G>T (p.Gly159Val) n.709G>T c.149G>T (p.Gly50Val) | dbSNP gnomAD v2 |
20 | g.33438861C= | CA2360753065 | SNTA1 | c.476G= (p.Gly159=) n.709G= c.149G= (p.Gly50=) | |
20 | g.33438861C>G | CA408633332 | SNTA1 | c.476G>C (p.Gly159Ala) n.709G>C c.149G>C (p.Gly50Ala) | gnomAD v4 |
20 | g.33438861C>T | CA408633333 | SNTA1 | c.476G>A (p.Gly159Asp) n.709G>A c.149G>A (p.Gly50Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.33438862C>A | CA408633334 | SNTA1 | c.475G>T (p.Gly159Cys) n.708G>T c.148G>T (p.Gly50Cys) | |
20 | g.33438862C>G | CA408633335 | SNTA1 | c.475G>C (p.Gly159Arg) n.708G>C c.148G>C (p.Gly50Arg) | |
20 | g.33438862C>T | CA408633336 | SNTA1 | c.475G>A (p.Gly159Ser) n.708G>A c.148G>A (p.Gly50Ser) | |
20 | g.33438863T>A | CA510252168 | SNTA1 | c.474A>T (p.Thr158=) n.707A>T c.147A>T (p.Thr49=) | |
20 | g.33438863T>C | CA510252169 | SNTA1 | c.474A>G (p.Thr158=) n.707A>G c.147A>G (p.Thr49=) | |
20 | g.33438863T>G | CA510252170 | SNTA1 | c.474A>C (p.Thr158=) n.707A>C c.147A>C (p.Thr49=) | gnomAD v4 |
20 | g.33438864G>A | CA313275610 | SNTA1 | c.473C>T (p.Thr158Ile) n.706C>T c.146C>T (p.Thr49Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33438864G>C | CA408633338 | SNTA1 | c.473C>G (p.Thr158Arg) n.706C>G c.146C>G (p.Thr49Arg) | |
20 | g.33438864G= | CA2360753066 | SNTA1 | c.473C= (p.Thr158=) n.706C= c.146C= (p.Thr49=) | |
20 | g.33438864G>T | CA408633337 | SNTA1 | c.473C>A (p.Thr158Lys) n.706C>A c.146C>A (p.Thr49Lys) | |
20 | g.33438865T>A | CA408633339 | SNTA1 | c.472A>T (p.Thr158Ser) n.705A>T c.145A>T (p.Thr49Ser) | |
20 | g.33438865T>C | CA408633341 | SNTA1 | c.472A>G (p.Thr158Ala) n.705A>G c.145A>G (p.Thr49Ala) | |
20 | g.33438865T>G | CA408633340 | SNTA1 | c.472A>C (p.Thr158Pro) n.705A>C c.145A>C (p.Thr49Pro) | |
20 | g.33438866C>A | CA408633342 | SNTA1 | c.471G>T (p.Lys157Asn) n.704G>T c.144G>T (p.Lys48Asn) | |
20 | g.33438866C>G | CA408633343 | SNTA1 | c.471G>C (p.Lys157Asn) n.704G>C c.144G>C (p.Lys48Asn) | |
20 | g.33438866C>T | CA510252172 | SNTA1 | c.471G>A (p.Lys157=) n.704G>A c.144G>A (p.Lys48=) | |
20 | g.33438867T>A | CA9817223 | SNTA1 | c.470A>T (p.Lys157Met) n.703A>T c.143A>T (p.Lys48Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.33438867T>C | CA408633344 | SNTA1 | c.470A>G (p.Lys157Arg) n.703A>G c.143A>G (p.Lys48Arg) | |
20 | g.33438867T>G | CA408633345 | SNTA1 | c.470A>C (p.Lys157Thr) n.703A>C c.143A>C (p.Lys48Thr) | |
20 | g.33438867T= | CA2360753067 | SNTA1 | c.470A= (p.Lys157=) n.703A= c.143A= (p.Lys48=) | |
20 | g.33438868T>A | CA408633346 | SNTA1 | c.469A>T (p.Lys157Ter) n.702A>T c.142A>T (p.Lys48Ter) | |
20 | g.33438868T>C | CA408633347 | SNTA1 | c.469A>G (p.Lys157Glu) n.702A>G c.142A>G (p.Lys48Glu) | dbSNP gnomAD v4 |
20 | g.33438868T>G | CA408633348 | SNTA1 | c.469A>C (p.Lys157Gln) n.702A>C c.142A>C (p.Lys48Gln) | |
20 | g.33438868T= | CA2360753068 | SNTA1 | c.469A= (p.Lys157=) n.702A= c.142A= (p.Lys48=) | |
20 | g.33438869C>A | CA408633349 | SNTA1 | c.468G>T (p.Lys156Asn) n.701G>T c.141G>T (p.Lys47Asn) | |
20 | g.33438869C>G | CA408633350 | SNTA1 | c.468G>C (p.Lys156Asn) n.701G>C c.141G>C (p.Lys47Asn) | |
20 | g.33438869C>T | CA510252175 | SNTA1 | c.468G>A (p.Lys156=) n.701G>A c.141G>A (p.Lys47=) | |
20 | g.33438870T>A | CA408633351 | SNTA1 | c.467A>T (p.Lys156Met) n.700A>T c.140A>T (p.Lys47Met) | |
20 | g.33438870T>C | CA9817224 | SNTA1 | c.467A>G (p.Lys156Arg) n.700A>G c.140A>G (p.Lys47Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33438870T>G | CA408633352 | SNTA1 | c.467A>C (p.Lys156Thr) n.700A>C c.140A>C (p.Lys47Thr) | |
20 | g.33438870T= | CA2360753069 | SNTA1 | c.467A= (p.Lys156=) n.700A= c.140A= (p.Lys47=) | |
20 | g.33438871T>A | CA408633355 | SNTA1 | c.466A>T (p.Lys156Ter) n.699A>T c.139A>T (p.Lys47Ter) | |
20 | g.33438871T>C | CA408633353 | SNTA1 | c.466A>G (p.Lys156Glu) n.699A>G c.139A>G (p.Lys47Glu) | |
20 | g.33438871T>G | CA408633354 | SNTA1 | c.466A>C (p.Lys156Gln) n.699A>C c.139A>C (p.Lys47Gln) | |
20 | g.33438872G>A | CA510252178 | SNTA1 | c.465C>T (p.Leu155=) n.698C>T c.138C>T (p.Leu46=) | |
20 | g.33438872G>C | CA510252179 | SNTA1 | c.465C>G (p.Leu155=) n.698C>G c.138C>G (p.Leu46=) | |
20 | g.33438872G>T | CA510252180 | SNTA1 | c.465C>A (p.Leu155=) n.698C>A c.138C>A (p.Leu46=) | |
20 | g.33438873A>C | CA408633356 | SNTA1 | c.464T>G (p.Leu155Arg) n.697T>G c.137T>G (p.Leu46Arg) | |
20 | g.33438873A>G | CA408633357 | SNTA1 | c.464T>C (p.Leu155Pro) n.697T>C c.137T>C (p.Leu46Pro) | |
20 | g.33438873A>T | CA408633358 | SNTA1 | c.464T>A (p.Leu155His) n.697T>A c.137T>A (p.Leu46His) | gnomAD v4 COSMIC |
20 | g.33438874G>A | CA408633359 | SNTA1 | c.463C>T (p.Leu155Phe) n.696C>T c.136C>T (p.Leu46Phe) | |
20 | g.33438874G>C | CA408633360 | SNTA1 | c.463C>G (p.Leu155Val) n.696C>G c.136C>G (p.Leu46Val) | |
20 | g.33438874G>T | CA408633361 | SNTA1 | c.463C>A (p.Leu155Ile) n.696C>A c.136C>A (p.Leu46Ile) | |
20 | g.33438875G>A | CA510252184 | SNTA1 | c.462C>T (p.Val154=) n.695C>T c.135C>T (p.Val45=) | |
20 | g.33438875G>C | CA510252185 | SNTA1 | c.462C>G (p.Val154=) n.695C>G c.135C>G (p.Val45=) | |
20 | g.33438875G>T | CA510252183 | SNTA1 | c.462C>A (p.Val154=) n.695C>A c.135C>A (p.Val45=) | |
20 | g.33438876A= | CA2360753070 | SNTA1 | c.461T= (p.Val154=) n.694T= c.134T= (p.Val45=) | |
20 | g.33438876A>C | CA408633362 | SNTA1 | c.461T>G (p.Val154Gly) n.694T>G c.134T>G (p.Val45Gly) | dbSNP |
20 | g.33438876A>G | CA408633363 | SNTA1 | c.461T>C (p.Val154Ala) n.694T>C c.134T>C (p.Val45Ala) | |
20 | g.33438876A>T | CA408633364 | SNTA1 | c.461T>A (p.Val154Asp) n.694T>A c.134T>A (p.Val45Asp) | |
20 | g.33438877C>A | CA408633365 | SNTA1 | c.460G>T (p.Val154Phe) n.693G>T c.133G>T (p.Val45Phe) | gnomAD v4 |
20 | g.33438877C= | CA2360753071 | SNTA1 | c.460G= (p.Val154=) n.693G= c.133G= (p.Val45=) | |
20 | g.33438877C>G | CA408633366 | SNTA1 | c.460G>C (p.Val154Leu) n.693G>C c.133G>C (p.Val45Leu) | |
20 | g.33438877C>T | CA236846 | SNTA1 | c.460G>A (p.Val154Ile) n.693G>A c.133G>A (p.Val45Ile) | ClinVar dbSNP gnomAD v4 |
20 | g.33438878C>A | CA408633367 | SNTA1 | c.459G>T (p.Gln153His) n.692G>T c.132G>T (p.Gln44His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.33438878C= | CA2360753072 | SNTA1 | c.459G= (p.Gln153=) n.692G= c.132G= (p.Gln44=) | |
20 | g.33438878C>G | CA408633368 | SNTA1 | c.459G>C (p.Gln153His) n.692G>C c.132G>C (p.Gln44His) | |
20 | g.33438878C>T | CA510252187 | SNTA1 | c.459G>A (p.Gln153=) n.692G>A c.132G>A (p.Gln44=) | dbSNP |
20 | g.33438879T>A | CA408633369 | SNTA1 | c.458A>T (p.Gln153Leu) n.691A>T c.131A>T (p.Gln44Leu) | |
20 | g.33438879T>C | CA408633370 | SNTA1 | c.458A>G (p.Gln153Arg) n.691A>G c.131A>G (p.Gln44Arg) | |
20 | g.33438879T>G | CA408633371 | SNTA1 | c.458A>C (p.Gln153Pro) n.691A>C c.131A>C (p.Gln44Pro) | dbSNP |
20 | g.33438879T= | CA2360753073 | SNTA1 | c.458A= (p.Gln153=) n.691A= c.131A= (p.Gln44=) | |
20 | g.33438880G>A | CA408633372 | SNTA1 | c.457C>T (p.Gln153Ter) n.690C>T c.130C>T (p.Gln44Ter) | |
20 | g.33438880G>C | CA408633373 | SNTA1 | c.457C>G (p.Gln153Glu) n.690C>G c.130C>G (p.Gln44Glu) | |
20 | g.33438880G>T | CA408633374 | SNTA1 | c.457C>A (p.Gln153Lys) n.690C>A c.130C>A (p.Gln44Lys) | |
20 | g.33438881C>A | CA510252188 | SNTA1 | c.456G>T (p.Val152=) n.689G>T c.129G>T (p.Val43=) | |
20 | g.33438881C= | CA2360753074 | SNTA1 | c.456G= (p.Val152=) n.689G= c.129G= (p.Val43=) | |
20 | g.33438881C>G | CA510252190 | SNTA1 | c.456G>C (p.Val152=) n.689G>C c.129G>C (p.Val43=) | |
20 | g.33438881C>T | CA510252189 | SNTA1 | c.456G>A (p.Val152=) n.689G>A c.129G>A (p.Val43=) | ClinVar dbSNP gnomAD v4 |
20 | g.33438882A= | CA2360753075 | SNTA1 | c.455T= (p.Val152=) n.688T= c.128T= (p.Val43=) | |
20 | g.33438882A>C | CA408633377 | SNTA1 | c.455T>G (p.Val152Gly) n.688T>G c.128T>G (p.Val43Gly) | dbSNP |
20 | g.33438882A>G | CA408633376 | SNTA1 | c.455T>C (p.Val152Ala) n.688T>C c.128T>C (p.Val43Ala) | |
20 | g.33438882A>T | CA408633375 | SNTA1 | c.455T>A (p.Val152Glu) n.688T>A c.128T>A (p.Val43Glu) | |
20 | g.33438883C>A | CA408633378 | SNTA1 | c.454G>T (p.Val152Leu) n.687G>T c.127G>T (p.Val43Leu) | |
20 | g.33438883C>G | CA408633379 | SNTA1 | c.454G>C (p.Val152Leu) n.687G>C c.127G>C (p.Val43Leu) | |
20 | g.33438883C>T | CA408633380 | SNTA1 | c.454G>A (p.Val152Met) n.687G>A c.127G>A (p.Val43Met) | ClinVar |
20 | g.33438884C>A | CA510252191 | SNTA1 | c.453G>T (p.Ala151=) n.686G>T c.126G>T (p.Ala42=) | |
20 | g.33438884C= | CA2360753076 | SNTA1 | c.453G= (p.Ala151=) n.686G= c.126G= (p.Ala42=) | |
20 | g.33438884C>G | CA510252192 | SNTA1 | c.453G>C (p.Ala151=) n.686G>C c.126G>C (p.Ala42=) | |
20 | g.33438884C>T | CA313275623 | SNTA1 | c.453G>A (p.Ala151=) n.686G>A c.126G>A (p.Ala42=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33438885G>A | CA354880 | SNTA1 | c.452C>T (p.Ala151Val) n.685C>T c.125C>T (p.Ala42Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.33438885G>C | CA408633381 | SNTA1 | c.452C>G (p.Ala151Gly) n.685C>G c.125C>G (p.Ala42Gly) | |
20 | g.33438885G= | CA2360753077 | SNTA1 | c.452C= (p.Ala151=) n.685C= c.125C= (p.Ala42=) | |
20 | g.33438885G>T | CA408633382 | SNTA1 | c.452C>A (p.Ala151Glu) n.685C>A c.125C>A (p.Ala42Glu) |