Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.128632172A>CCA375097542SPTAN1c.6844A>C (p.Ile2282Leu)
c.6871A>C (p.Ile2291Leu)
c.6895A>C (p.Ile2299Leu)
c.6334A>C (p.Ile2112Leu)
c.4413A>C
c.2750A>C
c.6808A>C (p.Ile2270Leu)
n.532A>C
c.6733A>C (p.Ile2245Leu)
c.6793A>C (p.Ile2265Leu)
n.762A>C
n.565A>C
c.6748A>C (p.Ile2250Leu)
c.6907A>C (p.Ile2303Leu)
c.6892A>C (p.Ile2298Leu)
c.6847A>C (p.Ile2283Leu)
c.6829A>C (p.Ile2277Leu)
c.6826A>C (p.Ile2276Leu)
c.6811A>C (p.Ile2271Leu)
c.6784A>C (p.Ile2262Leu)
c.6769A>C (p.Ile2257Leu)
c.6790A>C (p.Ile2264Leu)
c.6766A>C (p.Ile2256Leu)
9g.128632172A>GCA375097543SPTAN1c.6844A>G (p.Ile2282Val)
c.6871A>G (p.Ile2291Val)
c.6895A>G (p.Ile2299Val)
c.6334A>G (p.Ile2112Val)
c.4413A>G
c.2750A>G
c.6808A>G (p.Ile2270Val)
n.532A>G
c.6733A>G (p.Ile2245Val)
c.6793A>G (p.Ile2265Val)
n.762A>G
n.565A>G
c.6748A>G (p.Ile2250Val)
c.6907A>G (p.Ile2303Val)
c.6892A>G (p.Ile2298Val)
c.6847A>G (p.Ile2283Val)
c.6829A>G (p.Ile2277Val)
c.6826A>G (p.Ile2276Val)
c.6811A>G (p.Ile2271Val)
c.6784A>G (p.Ile2262Val)
c.6769A>G (p.Ile2257Val)
c.6790A>G (p.Ile2264Val)
c.6766A>G (p.Ile2256Val)
9g.128632172A>TCA375097547SPTAN1c.6844A>T (p.Ile2282Phe)
c.6871A>T (p.Ile2291Phe)
c.6895A>T (p.Ile2299Phe)
c.6334A>T (p.Ile2112Phe)
c.4413A>T
c.2750A>T
c.6808A>T (p.Ile2270Phe)
n.532A>T
c.6733A>T (p.Ile2245Phe)
c.6793A>T (p.Ile2265Phe)
n.762A>T
n.565A>T
c.6748A>T (p.Ile2250Phe)
c.6907A>T (p.Ile2303Phe)
c.6892A>T (p.Ile2298Phe)
c.6847A>T (p.Ile2283Phe)
c.6829A>T (p.Ile2277Phe)
c.6826A>T (p.Ile2276Phe)
c.6811A>T (p.Ile2271Phe)
c.6784A>T (p.Ile2262Phe)
c.6769A>T (p.Ile2257Phe)
c.6790A>T (p.Ile2264Phe)
c.6766A>T (p.Ile2256Phe)
9g.128632173T>ACA375097548SPTAN1c.6845T>A (p.Ile2282Asn)
c.6872T>A (p.Ile2291Asn)
c.6896T>A (p.Ile2299Asn)
c.6335T>A (p.Ile2112Asn)
c.4414T>A
c.2751T>A
c.6809T>A (p.Ile2270Asn)
n.533T>A
c.6734T>A (p.Ile2245Asn)
c.6794T>A (p.Ile2265Asn)
n.763T>A
n.566T>A
c.6749T>A (p.Ile2250Asn)
c.6908T>A (p.Ile2303Asn)
c.6893T>A (p.Ile2298Asn)
c.6848T>A (p.Ile2283Asn)
c.6830T>A (p.Ile2277Asn)
c.6827T>A (p.Ile2276Asn)
c.6812T>A (p.Ile2271Asn)
c.6785T>A (p.Ile2262Asn)
c.6770T>A (p.Ile2257Asn)
c.6791T>A (p.Ile2264Asn)
c.6767T>A (p.Ile2256Asn)
9g.128632173T>CCA375097549SPTAN1c.6845T>C (p.Ile2282Thr)
c.6872T>C (p.Ile2291Thr)
c.6896T>C (p.Ile2299Thr)
c.6335T>C (p.Ile2112Thr)
c.4414T>C
c.2751T>C
c.6809T>C (p.Ile2270Thr)
n.533T>C
c.6734T>C (p.Ile2245Thr)
c.6794T>C (p.Ile2265Thr)
n.763T>C
n.566T>C
c.6749T>C (p.Ile2250Thr)
c.6908T>C (p.Ile2303Thr)
c.6893T>C (p.Ile2298Thr)
c.6848T>C (p.Ile2283Thr)
c.6830T>C (p.Ile2277Thr)
c.6827T>C (p.Ile2276Thr)
c.6812T>C (p.Ile2271Thr)
c.6785T>C (p.Ile2262Thr)
c.6770T>C (p.Ile2257Thr)
c.6791T>C (p.Ile2264Thr)
c.6767T>C (p.Ile2256Thr)
9g.128632173T>GCA375097550SPTAN1c.6845T>G (p.Ile2282Ser)
c.6872T>G (p.Ile2291Ser)
c.6896T>G (p.Ile2299Ser)
c.6335T>G (p.Ile2112Ser)
c.4414T>G
c.2751T>G
c.6809T>G (p.Ile2270Ser)
n.533T>G
c.6734T>G (p.Ile2245Ser)
c.6794T>G (p.Ile2265Ser)
n.763T>G
n.566T>G
c.6749T>G (p.Ile2250Ser)
c.6908T>G (p.Ile2303Ser)
c.6893T>G (p.Ile2298Ser)
c.6848T>G (p.Ile2283Ser)
c.6830T>G (p.Ile2277Ser)
c.6827T>G (p.Ile2276Ser)
c.6812T>G (p.Ile2271Ser)
c.6785T>G (p.Ile2262Ser)
c.6770T>G (p.Ile2257Ser)
c.6791T>G (p.Ile2264Ser)
c.6767T>G (p.Ile2256Ser)
9g.128632174C>ACA467304801SPTAN1c.6846C>A (p.Ile2282=)
c.6873C>A (p.Ile2291=)
c.6897C>A (p.Ile2299=)
c.6336C>A (p.Ile2112=)
c.4415C>A
c.2752C>A
c.6810C>A (p.Ile2270=)
n.534C>A
c.6735C>A (p.Ile2245=)
c.6795C>A (p.Ile2265=)
n.764C>A
n.567C>A
c.6750C>A (p.Ile2250=)
c.6909C>A (p.Ile2303=)
c.6894C>A (p.Ile2298=)
c.6849C>A (p.Ile2283=)
c.6831C>A (p.Ile2277=)
c.6828C>A (p.Ile2276=)
c.6813C>A (p.Ile2271=)
c.6786C>A (p.Ile2262=)
c.6771C>A (p.Ile2257=)
c.6792C>A (p.Ile2264=)
c.6768C>A (p.Ile2256=)
 gnomAD v4
9g.128632174C=CA1880371233SPTAN1c.6846C= (p.Ile2282=)
c.6873C= (p.Ile2291=)
c.6897C= (p.Ile2299=)
c.6336C= (p.Ile2112=)
c.4415C=
c.2752C=
c.6810C= (p.Ile2270=)
n.534C=
c.6735C= (p.Ile2245=)
c.6795C= (p.Ile2265=)
n.764C=
n.567C=
c.6750C= (p.Ile2250=)
c.6909C= (p.Ile2303=)
c.6894C= (p.Ile2298=)
c.6849C= (p.Ile2283=)
c.6831C= (p.Ile2277=)
c.6828C= (p.Ile2276=)
c.6813C= (p.Ile2271=)
c.6786C= (p.Ile2262=)
c.6771C= (p.Ile2257=)
c.6792C= (p.Ile2264=)
c.6768C= (p.Ile2256=)
9g.128632174C>GCA375097553SPTAN1c.6846C>G (p.Ile2282Met)
c.6873C>G (p.Ile2291Met)
c.6897C>G (p.Ile2299Met)
c.6336C>G (p.Ile2112Met)
c.4415C>G
c.2752C>G
c.6810C>G (p.Ile2270Met)
n.534C>G
c.6735C>G (p.Ile2245Met)
c.6795C>G (p.Ile2265Met)
n.764C>G
n.567C>G
c.6750C>G (p.Ile2250Met)
c.6909C>G (p.Ile2303Met)
c.6894C>G (p.Ile2298Met)
c.6849C>G (p.Ile2283Met)
c.6831C>G (p.Ile2277Met)
c.6828C>G (p.Ile2276Met)
c.6813C>G (p.Ile2271Met)
c.6786C>G (p.Ile2262Met)
c.6771C>G (p.Ile2257Met)
c.6792C>G (p.Ile2264Met)
c.6768C>G (p.Ile2256Met)
9g.128632174C>TCA5265917SPTAN1c.6846C>T (p.Ile2282=)
c.6873C>T (p.Ile2291=)
c.6897C>T (p.Ile2299=)
c.6336C>T (p.Ile2112=)
c.4415C>T
c.2752C>T
c.6810C>T (p.Ile2270=)
n.534C>T
c.6735C>T (p.Ile2245=)
c.6795C>T (p.Ile2265=)
n.764C>T
n.567C>T
c.6750C>T (p.Ile2250=)
c.6909C>T (p.Ile2303=)
c.6894C>T (p.Ile2298=)
c.6849C>T (p.Ile2283=)
c.6831C>T (p.Ile2277=)
c.6828C>T (p.Ile2276=)
c.6813C>T (p.Ile2271=)
c.6786C>T (p.Ile2262=)
c.6771C>T (p.Ile2257=)
c.6792C>T (p.Ile2264=)
c.6768C>T (p.Ile2256=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128632175G>ACA375097568SPTAN1c.6847G>A (p.Glu2283Lys)
c.6874G>A (p.Glu2292Lys)
c.6898G>A (p.Glu2300Lys)
c.6337G>A (p.Glu2113Lys)
c.4416G>A
c.2753G>A
c.6811G>A (p.Glu2271Lys)
n.535G>A
c.6736G>A (p.Glu2246Lys)
c.6796G>A (p.Glu2266Lys)
n.765G>A
n.568G>A
c.6751G>A (p.Glu2251Lys)
c.6910G>A (p.Glu2304Lys)
c.6895G>A (p.Glu2299Lys)
c.6850G>A (p.Glu2284Lys)
c.6832G>A (p.Glu2278Lys)
c.6829G>A (p.Glu2277Lys)
c.6814G>A (p.Glu2272Lys)
c.6787G>A (p.Glu2263Lys)
c.6772G>A (p.Glu2258Lys)
c.6793G>A (p.Glu2265Lys)
c.6769G>A (p.Glu2257Lys)
 ClinVar dbSNP
9g.128632175G>CCA375097584SPTAN1c.6847G>C (p.Glu2283Gln)
c.6874G>C (p.Glu2292Gln)
c.6898G>C (p.Glu2300Gln)
c.6337G>C (p.Glu2113Gln)
c.4416G>C
c.2753G>C
c.6811G>C (p.Glu2271Gln)
n.535G>C
c.6736G>C (p.Glu2246Gln)
c.6796G>C (p.Glu2266Gln)
n.765G>C
n.568G>C
c.6751G>C (p.Glu2251Gln)
c.6910G>C (p.Glu2304Gln)
c.6895G>C (p.Glu2299Gln)
c.6850G>C (p.Glu2284Gln)
c.6832G>C (p.Glu2278Gln)
c.6829G>C (p.Glu2277Gln)
c.6814G>C (p.Glu2272Gln)
c.6787G>C (p.Glu2263Gln)
c.6772G>C (p.Glu2258Gln)
c.6793G>C (p.Glu2265Gln)
c.6769G>C (p.Glu2257Gln)
9g.128632175G=CA1880371234SPTAN1c.6847G= (p.Glu2283=)
c.6874G= (p.Glu2292=)
c.6898G= (p.Glu2300=)
c.6337G= (p.Glu2113=)
c.4416G=
c.2753G=
c.6811G= (p.Glu2271=)
n.535G=
c.6736G= (p.Glu2246=)
c.6796G= (p.Glu2266=)
n.765G=
n.568G=
c.6751G= (p.Glu2251=)
c.6910G= (p.Glu2304=)
c.6895G= (p.Glu2299=)
c.6850G= (p.Glu2284=)
c.6832G= (p.Glu2278=)
c.6829G= (p.Glu2277=)
c.6814G= (p.Glu2272=)
c.6787G= (p.Glu2263=)
c.6772G= (p.Glu2258=)
c.6793G= (p.Glu2265=)
c.6769G= (p.Glu2257=)
9g.128632175G>TCA375097595SPTAN1c.6847G>T (p.Glu2283Ter)
c.6874G>T (p.Glu2292Ter)
c.6898G>T (p.Glu2300Ter)
c.6337G>T (p.Glu2113Ter)
c.4416G>T
c.2753G>T
c.6811G>T (p.Glu2271Ter)
n.535G>T
c.6736G>T (p.Glu2246Ter)
c.6796G>T (p.Glu2266Ter)
n.765G>T
n.568G>T
c.6751G>T (p.Glu2251Ter)
c.6910G>T (p.Glu2304Ter)
c.6895G>T (p.Glu2299Ter)
c.6850G>T (p.Glu2284Ter)
c.6832G>T (p.Glu2278Ter)
c.6829G>T (p.Glu2277Ter)
c.6814G>T (p.Glu2272Ter)
c.6787G>T (p.Glu2263Ter)
c.6772G>T (p.Glu2258Ter)
c.6793G>T (p.Glu2265Ter)
c.6769G>T (p.Glu2257Ter)
9g.128632176A>CCA375097611SPTAN1c.6848A>C (p.Glu2283Ala)
c.6875A>C (p.Glu2292Ala)
c.6899A>C (p.Glu2300Ala)
c.6338A>C (p.Glu2113Ala)
c.4417A>C
c.2754A>C
c.6812A>C (p.Glu2271Ala)
n.536A>C
c.6737A>C (p.Glu2246Ala)
c.6797A>C (p.Glu2266Ala)
n.766A>C
n.569A>C
c.6752A>C (p.Glu2251Ala)
c.6911A>C (p.Glu2304Ala)
c.6896A>C (p.Glu2299Ala)
c.6851A>C (p.Glu2284Ala)
c.6833A>C (p.Glu2278Ala)
c.6830A>C (p.Glu2277Ala)
c.6815A>C (p.Glu2272Ala)
c.6788A>C (p.Glu2263Ala)
c.6773A>C (p.Glu2258Ala)
c.6794A>C (p.Glu2265Ala)
c.6770A>C (p.Glu2257Ala)
9g.128632176A>GCA375097610SPTAN1c.6848A>G (p.Glu2283Gly)
c.6875A>G (p.Glu2292Gly)
c.6899A>G (p.Glu2300Gly)
c.6338A>G (p.Glu2113Gly)
c.4417A>G
c.2754A>G
c.6812A>G (p.Glu2271Gly)
n.536A>G
c.6737A>G (p.Glu2246Gly)
c.6797A>G (p.Glu2266Gly)
n.766A>G
n.569A>G
c.6752A>G (p.Glu2251Gly)
c.6911A>G (p.Glu2304Gly)
c.6896A>G (p.Glu2299Gly)
c.6851A>G (p.Glu2284Gly)
c.6833A>G (p.Glu2278Gly)
c.6830A>G (p.Glu2277Gly)
c.6815A>G (p.Glu2272Gly)
c.6788A>G (p.Glu2263Gly)
c.6773A>G (p.Glu2258Gly)
c.6794A>G (p.Glu2265Gly)
c.6770A>G (p.Glu2257Gly)
9g.128632176A>TCA375097601SPTAN1c.6848A>T (p.Glu2283Val)
c.6875A>T (p.Glu2292Val)
c.6899A>T (p.Glu2300Val)
c.6338A>T (p.Glu2113Val)
c.4417A>T
c.2754A>T
c.6812A>T (p.Glu2271Val)
n.536A>T
c.6737A>T (p.Glu2246Val)
c.6797A>T (p.Glu2266Val)
n.766A>T
n.569A>T
c.6752A>T (p.Glu2251Val)
c.6911A>T (p.Glu2304Val)
c.6896A>T (p.Glu2299Val)
c.6851A>T (p.Glu2284Val)
c.6833A>T (p.Glu2278Val)
c.6830A>T (p.Glu2277Val)
c.6815A>T (p.Glu2272Val)
c.6788A>T (p.Glu2263Val)
c.6773A>T (p.Glu2258Val)
c.6794A>T (p.Glu2265Val)
c.6770A>T (p.Glu2257Val)
9g.128632177G>ACA467304802SPTAN1c.6849G>A (p.Glu2283=)
c.6876G>A (p.Glu2292=)
c.6900G>A (p.Glu2300=)
c.6339G>A (p.Glu2113=)
c.4418G>A
c.2755G>A
c.6813G>A (p.Glu2271=)
n.537G>A
c.6738G>A (p.Glu2246=)
c.6798G>A (p.Glu2266=)
n.767G>A
n.570G>A
c.6753G>A (p.Glu2251=)
c.6912G>A (p.Glu2304=)
c.6897G>A (p.Glu2299=)
c.6852G>A (p.Glu2284=)
c.6834G>A (p.Glu2278=)
c.6831G>A (p.Glu2277=)
c.6816G>A (p.Glu2272=)
c.6789G>A (p.Glu2263=)
c.6774G>A (p.Glu2258=)
c.6795G>A (p.Glu2265=)
c.6771G>A (p.Glu2257=)
9g.128632177G>CCA375097612SPTAN1c.6849G>C (p.Glu2283Asp)
c.6876G>C (p.Glu2292Asp)
c.6900G>C (p.Glu2300Asp)
c.6339G>C (p.Glu2113Asp)
c.4418G>C
c.2755G>C
c.6813G>C (p.Glu2271Asp)
n.537G>C
c.6738G>C (p.Glu2246Asp)
c.6798G>C (p.Glu2266Asp)
n.767G>C
n.570G>C
c.6753G>C (p.Glu2251Asp)
c.6912G>C (p.Glu2304Asp)
c.6897G>C (p.Glu2299Asp)
c.6852G>C (p.Glu2284Asp)
c.6834G>C (p.Glu2278Asp)
c.6831G>C (p.Glu2277Asp)
c.6816G>C (p.Glu2272Asp)
c.6789G>C (p.Glu2263Asp)
c.6774G>C (p.Glu2258Asp)
c.6795G>C (p.Glu2265Asp)
c.6771G>C (p.Glu2257Asp)
 dbSNP gnomAD v2 gnomAD v4
9g.128632177G=CA1880371235SPTAN1c.6849G= (p.Glu2283=)
c.6876G= (p.Glu2292=)
c.6900G= (p.Glu2300=)
c.6339G= (p.Glu2113=)
c.4418G=
c.2755G=
c.6813G= (p.Glu2271=)
n.537G=
c.6738G= (p.Glu2246=)
c.6798G= (p.Glu2266=)
n.767G=
n.570G=
c.6753G= (p.Glu2251=)
c.6912G= (p.Glu2304=)
c.6897G= (p.Glu2299=)
c.6852G= (p.Glu2284=)
c.6834G= (p.Glu2278=)
c.6831G= (p.Glu2277=)
c.6816G= (p.Glu2272=)
c.6789G= (p.Glu2263=)
c.6774G= (p.Glu2258=)
c.6795G= (p.Glu2265=)
c.6771G= (p.Glu2257=)
9g.128632177G>TCA375097613SPTAN1c.6849G>T (p.Glu2283Asp)
c.6876G>T (p.Glu2292Asp)
c.6900G>T (p.Glu2300Asp)
c.6339G>T (p.Glu2113Asp)
c.4418G>T
c.2755G>T
c.6813G>T (p.Glu2271Asp)
n.537G>T
c.6738G>T (p.Glu2246Asp)
c.6798G>T (p.Glu2266Asp)
n.767G>T
n.570G>T
c.6753G>T (p.Glu2251Asp)
c.6912G>T (p.Glu2304Asp)
c.6897G>T (p.Glu2299Asp)
c.6852G>T (p.Glu2284Asp)
c.6834G>T (p.Glu2278Asp)
c.6831G>T (p.Glu2277Asp)
c.6816G>T (p.Glu2272Asp)
c.6789G>T (p.Glu2263Asp)
c.6774G>T (p.Glu2258Asp)
c.6795G>T (p.Glu2265Asp)
c.6771G>T (p.Glu2257Asp)
 gnomAD v4
9g.128632178G>ACA375097615SPTAN1c.6850G>A (p.Asp2284Asn)
c.6877G>A (p.Asp2293Asn)
c.6901G>A (p.Asp2301Asn)
c.6340G>A (p.Asp2114Asn)
c.4419G>A
c.2756G>A
c.6814G>A (p.Asp2272Asn)
n.538G>A
c.6739G>A (p.Asp2247Asn)
c.6799G>A (p.Asp2267Asn)
n.768G>A
n.571G>A
c.6754G>A (p.Asp2252Asn)
c.6913G>A (p.Asp2305Asn)
c.6898G>A (p.Asp2300Asn)
c.6853G>A (p.Asp2285Asn)
c.6835G>A (p.Asp2279Asn)
c.6832G>A (p.Asp2278Asn)
c.6817G>A (p.Asp2273Asn)
c.6790G>A (p.Asp2264Asn)
c.6775G>A (p.Asp2259Asn)
c.6796G>A (p.Asp2266Asn)
c.6772G>A (p.Asp2258Asn)
9g.128632178G>CCA375097616SPTAN1c.6850G>C (p.Asp2284His)
c.6877G>C (p.Asp2293His)
c.6901G>C (p.Asp2301His)
c.6340G>C (p.Asp2114His)
c.4419G>C
c.2756G>C
c.6814G>C (p.Asp2272His)
n.538G>C
c.6739G>C (p.Asp2247His)
c.6799G>C (p.Asp2267His)
n.768G>C
n.571G>C
c.6754G>C (p.Asp2252His)
c.6913G>C (p.Asp2305His)
c.6898G>C (p.Asp2300His)
c.6853G>C (p.Asp2285His)
c.6835G>C (p.Asp2279His)
c.6832G>C (p.Asp2278His)
c.6817G>C (p.Asp2273His)
c.6790G>C (p.Asp2264His)
c.6775G>C (p.Asp2259His)
c.6796G>C (p.Asp2266His)
c.6772G>C (p.Asp2258His)
9g.128632178G>TCA375097617SPTAN1c.6850G>T (p.Asp2284Tyr)
c.6877G>T (p.Asp2293Tyr)
c.6901G>T (p.Asp2301Tyr)
c.6340G>T (p.Asp2114Tyr)
c.4419G>T
c.2756G>T
c.6814G>T (p.Asp2272Tyr)
n.538G>T
c.6739G>T (p.Asp2247Tyr)
c.6799G>T (p.Asp2267Tyr)
n.768G>T
n.571G>T
c.6754G>T (p.Asp2252Tyr)
c.6913G>T (p.Asp2305Tyr)
c.6898G>T (p.Asp2300Tyr)
c.6853G>T (p.Asp2285Tyr)
c.6835G>T (p.Asp2279Tyr)
c.6832G>T (p.Asp2278Tyr)
c.6817G>T (p.Asp2273Tyr)
c.6790G>T (p.Asp2264Tyr)
c.6775G>T (p.Asp2259Tyr)
c.6796G>T (p.Asp2266Tyr)
c.6772G>T (p.Asp2258Tyr)
9g.128632179A>CCA375097618SPTAN1c.6851A>C (p.Asp2284Ala)
c.6878A>C (p.Asp2293Ala)
c.6902A>C (p.Asp2301Ala)
c.6341A>C (p.Asp2114Ala)
c.4420A>C
c.2757A>C
c.6815A>C (p.Asp2272Ala)
n.539A>C
c.6740A>C (p.Asp2247Ala)
c.6800A>C (p.Asp2267Ala)
n.769A>C
n.572A>C
c.6755A>C (p.Asp2252Ala)
c.6914A>C (p.Asp2305Ala)
c.6899A>C (p.Asp2300Ala)
c.6854A>C (p.Asp2285Ala)
c.6836A>C (p.Asp2279Ala)
c.6833A>C (p.Asp2278Ala)
c.6818A>C (p.Asp2273Ala)
c.6791A>C (p.Asp2264Ala)
c.6776A>C (p.Asp2259Ala)
c.6797A>C (p.Asp2266Ala)
c.6773A>C (p.Asp2258Ala)
9g.128632179A>GCA375097621SPTAN1c.6851A>G (p.Asp2284Gly)
c.6878A>G (p.Asp2293Gly)
c.6902A>G (p.Asp2301Gly)
c.6341A>G (p.Asp2114Gly)
c.4420A>G
c.2757A>G
c.6815A>G (p.Asp2272Gly)
n.539A>G
c.6740A>G (p.Asp2247Gly)
c.6800A>G (p.Asp2267Gly)
n.769A>G
n.572A>G
c.6755A>G (p.Asp2252Gly)
c.6914A>G (p.Asp2305Gly)
c.6899A>G (p.Asp2300Gly)
c.6854A>G (p.Asp2285Gly)
c.6836A>G (p.Asp2279Gly)
c.6833A>G (p.Asp2278Gly)
c.6818A>G (p.Asp2273Gly)
c.6791A>G (p.Asp2264Gly)
c.6776A>G (p.Asp2259Gly)
c.6797A>G (p.Asp2266Gly)
c.6773A>G (p.Asp2258Gly)
9g.128632179A>TCA375097623SPTAN1c.6851A>T (p.Asp2284Val)
c.6878A>T (p.Asp2293Val)
c.6902A>T (p.Asp2301Val)
c.6341A>T (p.Asp2114Val)
c.4420A>T
c.2757A>T
c.6815A>T (p.Asp2272Val)
n.539A>T
c.6740A>T (p.Asp2247Val)
c.6800A>T (p.Asp2267Val)
n.769A>T
n.572A>T
c.6755A>T (p.Asp2252Val)
c.6914A>T (p.Asp2305Val)
c.6899A>T (p.Asp2300Val)
c.6854A>T (p.Asp2285Val)
c.6836A>T (p.Asp2279Val)
c.6833A>T (p.Asp2278Val)
c.6818A>T (p.Asp2273Val)
c.6791A>T (p.Asp2264Val)
c.6776A>T (p.Asp2259Val)
c.6797A>T (p.Asp2266Val)
c.6773A>T (p.Asp2258Val)
9g.128632180C>ACA375097632SPTAN1c.6852C>A (p.Asp2284Glu)
c.6879C>A (p.Asp2293Glu)
c.6903C>A (p.Asp2301Glu)
c.6342C>A (p.Asp2114Glu)
c.4421C>A
c.2758C>A
c.6816C>A (p.Asp2272Glu)
n.540C>A
c.6741C>A (p.Asp2247Glu)
c.6801C>A (p.Asp2267Glu)
n.770C>A
n.573C>A
c.6756C>A (p.Asp2252Glu)
c.6915C>A (p.Asp2305Glu)
c.6900C>A (p.Asp2300Glu)
c.6855C>A (p.Asp2285Glu)
c.6837C>A (p.Asp2279Glu)
c.6834C>A (p.Asp2278Glu)
c.6819C>A (p.Asp2273Glu)
c.6792C>A (p.Asp2264Glu)
c.6777C>A (p.Asp2259Glu)
c.6798C>A (p.Asp2266Glu)
c.6774C>A (p.Asp2258Glu)
 ClinVar dbSNP
9g.128632180C=CA1880371236SPTAN1c.6852C= (p.Asp2284=)
c.6879C= (p.Asp2293=)
c.6903C= (p.Asp2301=)
c.6342C= (p.Asp2114=)
c.4421C=
c.2758C=
c.6816C= (p.Asp2272=)
n.540C=
c.6741C= (p.Asp2247=)
c.6801C= (p.Asp2267=)
n.770C=
n.573C=
c.6756C= (p.Asp2252=)
c.6915C= (p.Asp2305=)
c.6900C= (p.Asp2300=)
c.6855C= (p.Asp2285=)
c.6837C= (p.Asp2279=)
c.6834C= (p.Asp2278=)
c.6819C= (p.Asp2273=)
c.6792C= (p.Asp2264=)
c.6777C= (p.Asp2259=)
c.6798C= (p.Asp2266=)
c.6774C= (p.Asp2258=)
9g.128632180C>GCA375097635SPTAN1c.6852C>G (p.Asp2284Glu)
c.6879C>G (p.Asp2293Glu)
c.6903C>G (p.Asp2301Glu)
c.6342C>G (p.Asp2114Glu)
c.4421C>G
c.2758C>G
c.6816C>G (p.Asp2272Glu)
n.540C>G
c.6741C>G (p.Asp2247Glu)
c.6801C>G (p.Asp2267Glu)
n.770C>G
n.573C>G
c.6756C>G (p.Asp2252Glu)
c.6915C>G (p.Asp2305Glu)
c.6900C>G (p.Asp2300Glu)
c.6855C>G (p.Asp2285Glu)
c.6837C>G (p.Asp2279Glu)
c.6834C>G (p.Asp2278Glu)
c.6819C>G (p.Asp2273Glu)
c.6792C>G (p.Asp2264Glu)
c.6777C>G (p.Asp2259Glu)
c.6798C>G (p.Asp2266Glu)
c.6774C>G (p.Asp2258Glu)
9g.128632180C>TCA467304803SPTAN1c.6852C>T (p.Asp2284=)
c.6879C>T (p.Asp2293=)
c.6903C>T (p.Asp2301=)
c.6342C>T (p.Asp2114=)
c.4421C>T
c.2758C>T
c.6816C>T (p.Asp2272=)
n.540C>T
c.6741C>T (p.Asp2247=)
c.6801C>T (p.Asp2267=)
n.770C>T
n.573C>T
c.6756C>T (p.Asp2252=)
c.6915C>T (p.Asp2305=)
c.6900C>T (p.Asp2300=)
c.6855C>T (p.Asp2285=)
c.6837C>T (p.Asp2279=)
c.6834C>T (p.Asp2278=)
c.6819C>T (p.Asp2273=)
c.6792C>T (p.Asp2264=)
c.6777C>T (p.Asp2259=)
c.6798C>T (p.Asp2266=)
c.6774C>T (p.Asp2258=)
 gnomAD v4
9g.128632181C>ACA375097638SPTAN1c.6853C>A (p.Leu2285Met)
c.6880C>A (p.Leu2294Met)
c.6904C>A (p.Leu2302Met)
c.6343C>A (p.Leu2115Met)
c.4422C>A
c.2759C>A
c.6817C>A (p.Leu2273Met)
n.541C>A
c.6742C>A (p.Leu2248Met)
c.6802C>A (p.Leu2268Met)
n.771C>A
n.574C>A
c.6757C>A (p.Leu2253Met)
c.6916C>A (p.Leu2306Met)
c.6901C>A (p.Leu2301Met)
c.6856C>A (p.Leu2286Met)
c.6838C>A (p.Leu2280Met)
c.6835C>A (p.Leu2279Met)
c.6820C>A (p.Leu2274Met)
c.6793C>A (p.Leu2265Met)
c.6778C>A (p.Leu2260Met)
c.6799C>A (p.Leu2267Met)
c.6775C>A (p.Leu2259Met)
9g.128632181C>GCA375097639SPTAN1c.6853C>G (p.Leu2285Val)
c.6880C>G (p.Leu2294Val)
c.6904C>G (p.Leu2302Val)
c.6343C>G (p.Leu2115Val)
c.4422C>G
c.2759C>G
c.6817C>G (p.Leu2273Val)
n.541C>G
c.6742C>G (p.Leu2248Val)
c.6802C>G (p.Leu2268Val)
n.771C>G
n.574C>G
c.6757C>G (p.Leu2253Val)
c.6916C>G (p.Leu2306Val)
c.6901C>G (p.Leu2301Val)
c.6856C>G (p.Leu2286Val)
c.6838C>G (p.Leu2280Val)
c.6835C>G (p.Leu2279Val)
c.6820C>G (p.Leu2274Val)
c.6793C>G (p.Leu2265Val)
c.6778C>G (p.Leu2260Val)
c.6799C>G (p.Leu2267Val)
c.6775C>G (p.Leu2259Val)
9g.128632181C>TCA467304804SPTAN1c.6853C>T (p.Leu2285=)
c.6880C>T (p.Leu2294=)
c.6904C>T (p.Leu2302=)
c.6343C>T (p.Leu2115=)
c.4422C>T
c.2759C>T
c.6817C>T (p.Leu2273=)
n.541C>T
c.6742C>T (p.Leu2248=)
c.6802C>T (p.Leu2268=)
n.771C>T
n.574C>T
c.6757C>T (p.Leu2253=)
c.6916C>T (p.Leu2306=)
c.6901C>T (p.Leu2301=)
c.6856C>T (p.Leu2286=)
c.6838C>T (p.Leu2280=)
c.6835C>T (p.Leu2279=)
c.6820C>T (p.Leu2274=)
c.6793C>T (p.Leu2265=)
c.6778C>T (p.Leu2260=)
c.6799C>T (p.Leu2267=)
c.6775C>T (p.Leu2259=)
9g.128632182T>ACA375097646SPTAN1c.6854T>A (p.Leu2285Gln)
c.6881T>A (p.Leu2294Gln)
c.6905T>A (p.Leu2302Gln)
c.6344T>A (p.Leu2115Gln)
c.4423T>A
c.2760T>A
c.6818T>A (p.Leu2273Gln)
n.542T>A
c.6743T>A (p.Leu2248Gln)
c.6803T>A (p.Leu2268Gln)
n.772T>A
n.575T>A
c.6758T>A (p.Leu2253Gln)
c.6917T>A (p.Leu2306Gln)
c.6902T>A (p.Leu2301Gln)
c.6857T>A (p.Leu2286Gln)
c.6839T>A (p.Leu2280Gln)
c.6836T>A (p.Leu2279Gln)
c.6821T>A (p.Leu2274Gln)
c.6794T>A (p.Leu2265Gln)
c.6779T>A (p.Leu2260Gln)
c.6800T>A (p.Leu2267Gln)
c.6776T>A (p.Leu2259Gln)
9g.128632182T>CCA375097643SPTAN1c.6854T>C (p.Leu2285Pro)
c.6881T>C (p.Leu2294Pro)
c.6905T>C (p.Leu2302Pro)
c.6344T>C (p.Leu2115Pro)
c.4423T>C
c.2760T>C
c.6818T>C (p.Leu2273Pro)
n.542T>C
c.6743T>C (p.Leu2248Pro)
c.6803T>C (p.Leu2268Pro)
n.772T>C
n.575T>C
c.6758T>C (p.Leu2253Pro)
c.6917T>C (p.Leu2306Pro)
c.6902T>C (p.Leu2301Pro)
c.6857T>C (p.Leu2286Pro)
c.6839T>C (p.Leu2280Pro)
c.6836T>C (p.Leu2279Pro)
c.6821T>C (p.Leu2274Pro)
c.6794T>C (p.Leu2265Pro)
c.6779T>C (p.Leu2260Pro)
c.6800T>C (p.Leu2267Pro)
c.6776T>C (p.Leu2259Pro)
9g.128632182T>GCA375097640SPTAN1c.6854T>G (p.Leu2285Arg)
c.6881T>G (p.Leu2294Arg)
c.6905T>G (p.Leu2302Arg)
c.6344T>G (p.Leu2115Arg)
c.4423T>G
c.2760T>G
c.6818T>G (p.Leu2273Arg)
n.542T>G
c.6743T>G (p.Leu2248Arg)
c.6803T>G (p.Leu2268Arg)
n.772T>G
n.575T>G
c.6758T>G (p.Leu2253Arg)
c.6917T>G (p.Leu2306Arg)
c.6902T>G (p.Leu2301Arg)
c.6857T>G (p.Leu2286Arg)
c.6839T>G (p.Leu2280Arg)
c.6836T>G (p.Leu2279Arg)
c.6821T>G (p.Leu2274Arg)
c.6794T>G (p.Leu2265Arg)
c.6779T>G (p.Leu2260Arg)
c.6800T>G (p.Leu2267Arg)
c.6776T>G (p.Leu2259Arg)
9g.128632183G>ACA467304805SPTAN1c.6855G>A (p.Leu2285=)
c.6882G>A (p.Leu2294=)
c.6906G>A (p.Leu2302=)
c.6345G>A (p.Leu2115=)
c.4424G>A
c.2761G>A
c.6819G>A (p.Leu2273=)
n.543G>A
c.6744G>A (p.Leu2248=)
c.6804G>A (p.Leu2268=)
n.773G>A
n.576G>A
c.6759G>A (p.Leu2253=)
c.6918G>A (p.Leu2306=)
c.6903G>A (p.Leu2301=)
c.6858G>A (p.Leu2286=)
c.6840G>A (p.Leu2280=)
c.6837G>A (p.Leu2279=)
c.6822G>A (p.Leu2274=)
c.6795G>A (p.Leu2265=)
c.6780G>A (p.Leu2260=)
c.6801G>A (p.Leu2267=)
c.6777G>A (p.Leu2259=)
9g.128632183G>CCA467304806SPTAN1c.6855G>C (p.Leu2285=)
c.6882G>C (p.Leu2294=)
c.6906G>C (p.Leu2302=)
c.6345G>C (p.Leu2115=)
c.4424G>C
c.2761G>C
c.6819G>C (p.Leu2273=)
n.543G>C
c.6744G>C (p.Leu2248=)
c.6804G>C (p.Leu2268=)
n.773G>C
n.576G>C
c.6759G>C (p.Leu2253=)
c.6918G>C (p.Leu2306=)
c.6903G>C (p.Leu2301=)
c.6858G>C (p.Leu2286=)
c.6840G>C (p.Leu2280=)
c.6837G>C (p.Leu2279=)
c.6822G>C (p.Leu2274=)
c.6795G>C (p.Leu2265=)
c.6780G>C (p.Leu2260=)
c.6801G>C (p.Leu2267=)
c.6777G>C (p.Leu2259=)
9g.128632183G>TCA467304807SPTAN1c.6855G>T (p.Leu2285=)
c.6882G>T (p.Leu2294=)
c.6906G>T (p.Leu2302=)
c.6345G>T (p.Leu2115=)
c.4424G>T
c.2761G>T
c.6819G>T (p.Leu2273=)
n.543G>T
c.6744G>T (p.Leu2248=)
c.6804G>T (p.Leu2268=)
n.773G>T
n.576G>T
c.6759G>T (p.Leu2253=)
c.6918G>T (p.Leu2306=)
c.6903G>T (p.Leu2301=)
c.6858G>T (p.Leu2286=)
c.6840G>T (p.Leu2280=)
c.6837G>T (p.Leu2279=)
c.6822G>T (p.Leu2274=)
c.6795G>T (p.Leu2265=)
c.6780G>T (p.Leu2260=)
c.6801G>T (p.Leu2267=)
c.6777G>T (p.Leu2259=)
9g.128632184G>ACA375097651SPTAN1c.6856G>A (p.Gly2286Arg)
c.6883G>A (p.Gly2295Arg)
c.6907G>A (p.Gly2303Arg)
c.6346G>A (p.Gly2116Arg)
c.4425G>A
c.2762G>A
c.6820G>A (p.Gly2274Arg)
n.544G>A
c.6745G>A (p.Gly2249Arg)
c.6805G>A (p.Gly2269Arg)
n.774G>A
n.577G>A
c.6760G>A (p.Gly2254Arg)
c.6919G>A (p.Gly2307Arg)
c.6904G>A (p.Gly2302Arg)
c.6859G>A (p.Gly2287Arg)
c.6841G>A (p.Gly2281Arg)
c.6838G>A (p.Gly2280Arg)
c.6823G>A (p.Gly2275Arg)
c.6796G>A (p.Gly2266Arg)
c.6781G>A (p.Gly2261Arg)
c.6802G>A (p.Gly2268Arg)
c.6778G>A (p.Gly2260Arg)
9g.128632184G>CCA375097652SPTAN1c.6856G>C (p.Gly2286Arg)
c.6883G>C (p.Gly2295Arg)
c.6907G>C (p.Gly2303Arg)
c.6346G>C (p.Gly2116Arg)
c.4425G>C
c.2762G>C
c.6820G>C (p.Gly2274Arg)
n.544G>C
c.6745G>C (p.Gly2249Arg)
c.6805G>C (p.Gly2269Arg)
n.774G>C
n.577G>C
c.6760G>C (p.Gly2254Arg)
c.6919G>C (p.Gly2307Arg)
c.6904G>C (p.Gly2302Arg)
c.6859G>C (p.Gly2287Arg)
c.6841G>C (p.Gly2281Arg)
c.6838G>C (p.Gly2280Arg)
c.6823G>C (p.Gly2275Arg)
c.6796G>C (p.Gly2266Arg)
c.6781G>C (p.Gly2261Arg)
c.6802G>C (p.Gly2268Arg)
c.6778G>C (p.Gly2260Arg)
9g.128632184G>TCA375097654SPTAN1c.6856G>T (p.Gly2286Trp)
c.6883G>T (p.Gly2295Trp)
c.6907G>T (p.Gly2303Trp)
c.6346G>T (p.Gly2116Trp)
c.4425G>T
c.2762G>T
c.6820G>T (p.Gly2274Trp)
n.544G>T
c.6745G>T (p.Gly2249Trp)
c.6805G>T (p.Gly2269Trp)
n.774G>T
n.577G>T
c.6760G>T (p.Gly2254Trp)
c.6919G>T (p.Gly2307Trp)
c.6904G>T (p.Gly2302Trp)
c.6859G>T (p.Gly2287Trp)
c.6841G>T (p.Gly2281Trp)
c.6838G>T (p.Gly2280Trp)
c.6823G>T (p.Gly2275Trp)
c.6796G>T (p.Gly2266Trp)
c.6781G>T (p.Gly2261Trp)
c.6802G>T (p.Gly2268Trp)
c.6778G>T (p.Gly2260Trp)
9g.128632185G>ACA375097655SPTAN1c.6857G>A (p.Gly2286Glu)
c.6884G>A (p.Gly2295Glu)
c.6908G>A (p.Gly2303Glu)
c.6347G>A (p.Gly2116Glu)
c.4426G>A
c.2763G>A
c.6821G>A (p.Gly2274Glu)
n.545G>A
c.6746G>A (p.Gly2249Glu)
c.6806G>A (p.Gly2269Glu)
n.775G>A
n.578G>A
c.6761G>A (p.Gly2254Glu)
c.6920G>A (p.Gly2307Glu)
c.6905G>A (p.Gly2302Glu)
c.6860G>A (p.Gly2287Glu)
c.6842G>A (p.Gly2281Glu)
c.6839G>A (p.Gly2280Glu)
c.6824G>A (p.Gly2275Glu)
c.6797G>A (p.Gly2266Glu)
c.6782G>A (p.Gly2261Glu)
c.6803G>A (p.Gly2268Glu)
c.6779G>A (p.Gly2260Glu)
9g.128632185G>CCA375097658SPTAN1c.6857G>C (p.Gly2286Ala)
c.6884G>C (p.Gly2295Ala)
c.6908G>C (p.Gly2303Ala)
c.6347G>C (p.Gly2116Ala)
c.4426G>C
c.2763G>C
c.6821G>C (p.Gly2274Ala)
n.545G>C
c.6746G>C (p.Gly2249Ala)
c.6806G>C (p.Gly2269Ala)
n.775G>C
n.578G>C
c.6761G>C (p.Gly2254Ala)
c.6920G>C (p.Gly2307Ala)
c.6905G>C (p.Gly2302Ala)
c.6860G>C (p.Gly2287Ala)
c.6842G>C (p.Gly2281Ala)
c.6839G>C (p.Gly2280Ala)
c.6824G>C (p.Gly2275Ala)
c.6797G>C (p.Gly2266Ala)
c.6782G>C (p.Gly2261Ala)
c.6803G>C (p.Gly2268Ala)
c.6779G>C (p.Gly2260Ala)
9g.128632185G>TCA375097661SPTAN1c.6857G>T (p.Gly2286Val)
c.6884G>T (p.Gly2295Val)
c.6908G>T (p.Gly2303Val)
c.6347G>T (p.Gly2116Val)
c.4426G>T
c.2763G>T
c.6821G>T (p.Gly2274Val)
n.545G>T
c.6746G>T (p.Gly2249Val)
c.6806G>T (p.Gly2269Val)
n.775G>T
n.578G>T
c.6761G>T (p.Gly2254Val)
c.6920G>T (p.Gly2307Val)
c.6905G>T (p.Gly2302Val)
c.6860G>T (p.Gly2287Val)
c.6842G>T (p.Gly2281Val)
c.6839G>T (p.Gly2280Val)
c.6824G>T (p.Gly2275Val)
c.6797G>T (p.Gly2266Val)
c.6782G>T (p.Gly2261Val)
c.6803G>T (p.Gly2268Val)
c.6779G>T (p.Gly2260Val)
9g.128632186G>ACA467304808SPTAN1c.6858G>A (p.Gly2286=)
c.6885G>A (p.Gly2295=)
c.6909G>A (p.Gly2303=)
c.6348G>A (p.Gly2116=)
c.4427G>A
c.2764G>A
c.6822G>A (p.Gly2274=)
n.546G>A
c.6747G>A (p.Gly2249=)
c.6807G>A (p.Gly2269=)
n.776G>A
n.579G>A
c.6762G>A (p.Gly2254=)
c.6921G>A (p.Gly2307=)
c.6906G>A (p.Gly2302=)
c.6861G>A (p.Gly2287=)
c.6843G>A (p.Gly2281=)
c.6840G>A (p.Gly2280=)
c.6825G>A (p.Gly2275=)
c.6798G>A (p.Gly2266=)
c.6783G>A (p.Gly2261=)
c.6804G>A (p.Gly2268=)
c.6780G>A (p.Gly2260=)
 gnomAD v4
9g.128632186G>CCA467304809SPTAN1c.6858G>C (p.Gly2286=)
c.6885G>C (p.Gly2295=)
c.6909G>C (p.Gly2303=)
c.6348G>C (p.Gly2116=)
c.4427G>C
c.2764G>C
c.6822G>C (p.Gly2274=)
n.546G>C
c.6747G>C (p.Gly2249=)
c.6807G>C (p.Gly2269=)
n.776G>C
n.579G>C
c.6762G>C (p.Gly2254=)
c.6921G>C (p.Gly2307=)
c.6906G>C (p.Gly2302=)
c.6861G>C (p.Gly2287=)
c.6843G>C (p.Gly2281=)
c.6840G>C (p.Gly2280=)
c.6825G>C (p.Gly2275=)
c.6798G>C (p.Gly2266=)
c.6783G>C (p.Gly2261=)
c.6804G>C (p.Gly2268=)
c.6780G>C (p.Gly2260=)
9g.128632186G>TCA467304810SPTAN1c.6858G>T (p.Gly2286=)
c.6885G>T (p.Gly2295=)
c.6909G>T (p.Gly2303=)
c.6348G>T (p.Gly2116=)
c.4427G>T
c.2764G>T
c.6822G>T (p.Gly2274=)
n.546G>T
c.6747G>T (p.Gly2249=)
c.6807G>T (p.Gly2269=)
n.776G>T
n.579G>T
c.6762G>T (p.Gly2254=)
c.6921G>T (p.Gly2307=)
c.6906G>T (p.Gly2302=)
c.6861G>T (p.Gly2287=)
c.6843G>T (p.Gly2281=)
c.6840G>T (p.Gly2280=)
c.6825G>T (p.Gly2275=)
c.6798G>T (p.Gly2266=)
c.6783G>T (p.Gly2261=)
c.6804G>T (p.Gly2268=)
c.6780G>T (p.Gly2260=)
9g.128632187G>ACA375097668SPTAN1c.6859G>A (p.Ala2287Thr)
c.6886G>A (p.Ala2296Thr)
c.6910G>A (p.Ala2304Thr)
c.6349G>A (p.Ala2117Thr)
c.4428G>A
c.2765G>A
c.6823G>A (p.Ala2275Thr)
n.547G>A
c.6748G>A (p.Ala2250Thr)
c.6808G>A (p.Ala2270Thr)
n.777G>A
n.580G>A
c.6763G>A (p.Ala2255Thr)
c.6922G>A (p.Ala2308Thr)
c.6907G>A (p.Ala2303Thr)
c.6862G>A (p.Ala2288Thr)
c.6844G>A (p.Ala2282Thr)
c.6841G>A (p.Ala2281Thr)
c.6826G>A (p.Ala2276Thr)
c.6799G>A (p.Ala2267Thr)
c.6784G>A (p.Ala2262Thr)
c.6805G>A (p.Ala2269Thr)
c.6781G>A (p.Ala2261Thr)
 dbSNP gnomAD v3 gnomAD v4
9g.128632187G>CCA375097676SPTAN1c.6859G>C (p.Ala2287Pro)
c.6886G>C (p.Ala2296Pro)
c.6910G>C (p.Ala2304Pro)
c.6349G>C (p.Ala2117Pro)
c.4428G>C
c.2765G>C
c.6823G>C (p.Ala2275Pro)
n.547G>C
c.6748G>C (p.Ala2250Pro)
c.6808G>C (p.Ala2270Pro)
n.777G>C
n.580G>C
c.6763G>C (p.Ala2255Pro)
c.6922G>C (p.Ala2308Pro)
c.6907G>C (p.Ala2303Pro)
c.6862G>C (p.Ala2288Pro)
c.6844G>C (p.Ala2282Pro)
c.6841G>C (p.Ala2281Pro)
c.6826G>C (p.Ala2276Pro)
c.6799G>C (p.Ala2267Pro)
c.6784G>C (p.Ala2262Pro)
c.6805G>C (p.Ala2269Pro)
c.6781G>C (p.Ala2261Pro)
9g.128632187G=CA1880371237SPTAN1c.6859G= (p.Ala2287=)
c.6886G= (p.Ala2296=)
c.6910G= (p.Ala2304=)
c.6349G= (p.Ala2117=)
c.4428G=
c.2765G=
c.6823G= (p.Ala2275=)
n.547G=
c.6748G= (p.Ala2250=)
c.6808G= (p.Ala2270=)
n.777G=
n.580G=
c.6763G= (p.Ala2255=)
c.6922G= (p.Ala2308=)
c.6907G= (p.Ala2303=)
c.6862G= (p.Ala2288=)
c.6844G= (p.Ala2282=)
c.6841G= (p.Ala2281=)
c.6826G= (p.Ala2276=)
c.6799G= (p.Ala2267=)
c.6784G= (p.Ala2262=)
c.6805G= (p.Ala2269=)
c.6781G= (p.Ala2261=)
9g.128632187G>TCA375097678SPTAN1c.6859G>T (p.Ala2287Ser)
c.6886G>T (p.Ala2296Ser)
c.6910G>T (p.Ala2304Ser)
c.6349G>T (p.Ala2117Ser)
c.4428G>T
c.2765G>T
c.6823G>T (p.Ala2275Ser)
n.547G>T
c.6748G>T (p.Ala2250Ser)
c.6808G>T (p.Ala2270Ser)
n.777G>T
n.580G>T
c.6763G>T (p.Ala2255Ser)
c.6922G>T (p.Ala2308Ser)
c.6907G>T (p.Ala2303Ser)
c.6862G>T (p.Ala2288Ser)
c.6844G>T (p.Ala2282Ser)
c.6841G>T (p.Ala2281Ser)
c.6826G>T (p.Ala2276Ser)
c.6799G>T (p.Ala2267Ser)
c.6784G>T (p.Ala2262Ser)
c.6805G>T (p.Ala2269Ser)
c.6781G>T (p.Ala2261Ser)
9g.128632188C>ACA375097682SPTAN1c.6860C>A (p.Ala2287Asp)
c.6887C>A (p.Ala2296Asp)
c.6911C>A (p.Ala2304Asp)
c.6350C>A (p.Ala2117Asp)
c.4429C>A
c.2766C>A
c.6824C>A (p.Ala2275Asp)
n.548C>A
c.6749C>A (p.Ala2250Asp)
c.6809C>A (p.Ala2270Asp)
n.778C>A
n.581C>A
c.6764C>A (p.Ala2255Asp)
c.6923C>A (p.Ala2308Asp)
c.6908C>A (p.Ala2303Asp)
c.6863C>A (p.Ala2288Asp)
c.6845C>A (p.Ala2282Asp)
c.6842C>A (p.Ala2281Asp)
c.6827C>A (p.Ala2276Asp)
c.6800C>A (p.Ala2267Asp)
c.6785C>A (p.Ala2262Asp)
c.6806C>A (p.Ala2269Asp)
c.6782C>A (p.Ala2261Asp)
9g.128632188C>GCA375097683SPTAN1c.6860C>G (p.Ala2287Gly)
c.6887C>G (p.Ala2296Gly)
c.6911C>G (p.Ala2304Gly)
c.6350C>G (p.Ala2117Gly)
c.4429C>G
c.2766C>G
c.6824C>G (p.Ala2275Gly)
n.548C>G
c.6749C>G (p.Ala2250Gly)
c.6809C>G (p.Ala2270Gly)
n.778C>G
n.581C>G
c.6764C>G (p.Ala2255Gly)
c.6923C>G (p.Ala2308Gly)
c.6908C>G (p.Ala2303Gly)
c.6863C>G (p.Ala2288Gly)
c.6845C>G (p.Ala2282Gly)
c.6842C>G (p.Ala2281Gly)
c.6827C>G (p.Ala2276Gly)
c.6800C>G (p.Ala2267Gly)
c.6785C>G (p.Ala2262Gly)
c.6806C>G (p.Ala2269Gly)
c.6782C>G (p.Ala2261Gly)
9g.128632188C>TCA375097686SPTAN1c.6860C>T (p.Ala2287Val)
c.6887C>T (p.Ala2296Val)
c.6911C>T (p.Ala2304Val)
c.6350C>T (p.Ala2117Val)
c.4429C>T
c.2766C>T
c.6824C>T (p.Ala2275Val)
n.548C>T
c.6749C>T (p.Ala2250Val)
c.6809C>T (p.Ala2270Val)
n.778C>T
n.581C>T
c.6764C>T (p.Ala2255Val)
c.6923C>T (p.Ala2308Val)
c.6908C>T (p.Ala2303Val)
c.6863C>T (p.Ala2288Val)
c.6845C>T (p.Ala2282Val)
c.6842C>T (p.Ala2281Val)
c.6827C>T (p.Ala2276Val)
c.6800C>T (p.Ala2267Val)
c.6785C>T (p.Ala2262Val)
c.6806C>T (p.Ala2269Val)
c.6782C>T (p.Ala2261Val)
9g.128632189C>ACA467304811SPTAN1c.6861C>A (p.Ala2287=)
c.6888C>A (p.Ala2296=)
c.6912C>A (p.Ala2304=)
c.6351C>A (p.Ala2117=)
c.4430C>A
c.2767C>A
c.6825C>A (p.Ala2275=)
n.549C>A
c.6750C>A (p.Ala2250=)
c.6810C>A (p.Ala2270=)
n.779C>A
n.582C>A
c.6765C>A (p.Ala2255=)
c.6924C>A (p.Ala2308=)
c.6909C>A (p.Ala2303=)
c.6864C>A (p.Ala2288=)
c.6846C>A (p.Ala2282=)
c.6843C>A (p.Ala2281=)
c.6828C>A (p.Ala2276=)
c.6801C>A (p.Ala2267=)
c.6786C>A (p.Ala2262=)
c.6807C>A (p.Ala2269=)
c.6783C>A (p.Ala2261=)
9g.128632189C=CA1880371238SPTAN1c.6861C= (p.Ala2287=)
c.6888C= (p.Ala2296=)
c.6912C= (p.Ala2304=)
c.6351C= (p.Ala2117=)
c.4430C=
c.2767C=
c.6825C= (p.Ala2275=)
n.549C=
c.6750C= (p.Ala2250=)
c.6810C= (p.Ala2270=)
n.779C=
n.582C=
c.6765C= (p.Ala2255=)
c.6924C= (p.Ala2308=)
c.6909C= (p.Ala2303=)
c.6864C= (p.Ala2288=)
c.6846C= (p.Ala2282=)
c.6843C= (p.Ala2281=)
c.6828C= (p.Ala2276=)
c.6801C= (p.Ala2267=)
c.6786C= (p.Ala2262=)
c.6807C= (p.Ala2269=)
c.6783C= (p.Ala2261=)
9g.128632189C>GCA467304812SPTAN1c.6861C>G (p.Ala2287=)
c.6888C>G (p.Ala2296=)
c.6912C>G (p.Ala2304=)
c.6351C>G (p.Ala2117=)
c.4430C>G
c.2767C>G
c.6825C>G (p.Ala2275=)
n.549C>G
c.6750C>G (p.Ala2250=)
c.6810C>G (p.Ala2270=)
n.779C>G
n.582C>G
c.6765C>G (p.Ala2255=)
c.6924C>G (p.Ala2308=)
c.6909C>G (p.Ala2303=)
c.6864C>G (p.Ala2288=)
c.6846C>G (p.Ala2282=)
c.6843C>G (p.Ala2281=)
c.6828C>G (p.Ala2276=)
c.6801C>G (p.Ala2267=)
c.6786C>G (p.Ala2262=)
c.6807C>G (p.Ala2269=)
c.6783C>G (p.Ala2261=)
9g.128632189C>TCA5265918SPTAN1c.6861C>T (p.Ala2287=)
c.6888C>T (p.Ala2296=)
c.6912C>T (p.Ala2304=)
c.6351C>T (p.Ala2117=)
c.4430C>T
c.2767C>T
c.6825C>T (p.Ala2275=)
n.549C>T
c.6750C>T (p.Ala2250=)
c.6810C>T (p.Ala2270=)
n.779C>T
n.582C>T
c.6765C>T (p.Ala2255=)
c.6924C>T (p.Ala2308=)
c.6909C>T (p.Ala2303=)
c.6864C>T (p.Ala2288=)
c.6846C>T (p.Ala2282=)
c.6843C>T (p.Ala2281=)
c.6828C>T (p.Ala2276=)
c.6801C>T (p.Ala2267=)
c.6786C>T (p.Ala2262=)
c.6807C>T (p.Ala2269=)
c.6783C>T (p.Ala2261=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128632190G>ACA5265919SPTAN1c.6862G>A (p.Ala2288Thr)
c.6889G>A (p.Ala2297Thr)
c.6913G>A (p.Ala2305Thr)
c.6352G>A (p.Ala2118Thr)
c.4431G>A
c.2768G>A
c.6826G>A (p.Ala2276Thr)
n.550G>A
c.6751G>A (p.Ala2251Thr)
c.6811G>A (p.Ala2271Thr)
n.780G>A
n.583G>A
c.6766G>A (p.Ala2256Thr)
c.6925G>A (p.Ala2309Thr)
c.6910G>A (p.Ala2304Thr)
c.6865G>A (p.Ala2289Thr)
c.6847G>A (p.Ala2283Thr)
c.6844G>A (p.Ala2282Thr)
c.6829G>A (p.Ala2277Thr)
c.6802G>A (p.Ala2268Thr)
c.6787G>A (p.Ala2263Thr)
c.6808G>A (p.Ala2270Thr)
c.6784G>A (p.Ala2262Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128632190G>CCA375097716SPTAN1c.6862G>C (p.Ala2288Pro)
c.6889G>C (p.Ala2297Pro)
c.6913G>C (p.Ala2305Pro)
c.6352G>C (p.Ala2118Pro)
c.4431G>C
c.2768G>C
c.6826G>C (p.Ala2276Pro)
n.550G>C
c.6751G>C (p.Ala2251Pro)
c.6811G>C (p.Ala2271Pro)
n.780G>C
n.583G>C
c.6766G>C (p.Ala2256Pro)
c.6925G>C (p.Ala2309Pro)
c.6910G>C (p.Ala2304Pro)
c.6865G>C (p.Ala2289Pro)
c.6847G>C (p.Ala2283Pro)
c.6844G>C (p.Ala2282Pro)
c.6829G>C (p.Ala2277Pro)
c.6802G>C (p.Ala2268Pro)
c.6787G>C (p.Ala2263Pro)
c.6808G>C (p.Ala2270Pro)
c.6784G>C (p.Ala2262Pro)
9g.128632190G=CA1880371239SPTAN1c.6862G= (p.Ala2288=)
c.6889G= (p.Ala2297=)
c.6913G= (p.Ala2305=)
c.6352G= (p.Ala2118=)
c.4431G=
c.2768G=
c.6826G= (p.Ala2276=)
n.550G=
c.6751G= (p.Ala2251=)
c.6811G= (p.Ala2271=)
n.780G=
n.583G=
c.6766G= (p.Ala2256=)
c.6925G= (p.Ala2309=)
c.6910G= (p.Ala2304=)
c.6865G= (p.Ala2289=)
c.6847G= (p.Ala2283=)
c.6844G= (p.Ala2282=)
c.6829G= (p.Ala2277=)
c.6802G= (p.Ala2268=)
c.6787G= (p.Ala2263=)
c.6808G= (p.Ala2270=)
c.6784G= (p.Ala2262=)
9g.128632190G>TCA5265920SPTAN1c.6862G>T (p.Ala2288Ser)
c.6889G>T (p.Ala2297Ser)
c.6913G>T (p.Ala2305Ser)
c.6352G>T (p.Ala2118Ser)
c.4431G>T
c.2768G>T
c.6826G>T (p.Ala2276Ser)
n.550G>T
c.6751G>T (p.Ala2251Ser)
c.6811G>T (p.Ala2271Ser)
n.780G>T
n.583G>T
c.6766G>T (p.Ala2256Ser)
c.6925G>T (p.Ala2309Ser)
c.6910G>T (p.Ala2304Ser)
c.6865G>T (p.Ala2289Ser)
c.6847G>T (p.Ala2283Ser)
c.6844G>T (p.Ala2282Ser)
c.6829G>T (p.Ala2277Ser)
c.6802G>T (p.Ala2268Ser)
c.6787G>T (p.Ala2263Ser)
c.6808G>T (p.Ala2270Ser)
c.6784G>T (p.Ala2262Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.128632191C>ACA375097723SPTAN1c.6863C>A (p.Ala2288Asp)
c.6890C>A (p.Ala2297Asp)
c.6914C>A (p.Ala2305Asp)
c.6353C>A (p.Ala2118Asp)
c.4432C>A
c.2769C>A
c.6827C>A (p.Ala2276Asp)
n.551C>A
c.6752C>A (p.Ala2251Asp)
c.6812C>A (p.Ala2271Asp)
n.781C>A
n.584C>A
c.6767C>A (p.Ala2256Asp)
c.6926C>A (p.Ala2309Asp)
c.6911C>A (p.Ala2304Asp)
c.6866C>A (p.Ala2289Asp)
c.6848C>A (p.Ala2283Asp)
c.6845C>A (p.Ala2282Asp)
c.6830C>A (p.Ala2277Asp)
c.6803C>A (p.Ala2268Asp)
c.6788C>A (p.Ala2263Asp)
c.6809C>A (p.Ala2270Asp)
c.6785C>A (p.Ala2262Asp)
9g.128632191C>GCA375097724SPTAN1c.6863C>G (p.Ala2288Gly)
c.6890C>G (p.Ala2297Gly)
c.6914C>G (p.Ala2305Gly)
c.6353C>G (p.Ala2118Gly)
c.4432C>G
c.2769C>G
c.6827C>G (p.Ala2276Gly)
n.551C>G
c.6752C>G (p.Ala2251Gly)
c.6812C>G (p.Ala2271Gly)
n.781C>G
n.584C>G
c.6767C>G (p.Ala2256Gly)
c.6926C>G (p.Ala2309Gly)
c.6911C>G (p.Ala2304Gly)
c.6866C>G (p.Ala2289Gly)
c.6848C>G (p.Ala2283Gly)
c.6845C>G (p.Ala2282Gly)
c.6830C>G (p.Ala2277Gly)
c.6803C>G (p.Ala2268Gly)
c.6788C>G (p.Ala2263Gly)
c.6809C>G (p.Ala2270Gly)
c.6785C>G (p.Ala2262Gly)
9g.128632191C>TCA375097727SPTAN1c.6863C>T (p.Ala2288Val)
c.6890C>T (p.Ala2297Val)
c.6914C>T (p.Ala2305Val)
c.6353C>T (p.Ala2118Val)
c.4432C>T
c.2769C>T
c.6827C>T (p.Ala2276Val)
n.551C>T
c.6752C>T (p.Ala2251Val)
c.6812C>T (p.Ala2271Val)
n.781C>T
n.584C>T
c.6767C>T (p.Ala2256Val)
c.6926C>T (p.Ala2309Val)
c.6911C>T (p.Ala2304Val)
c.6866C>T (p.Ala2289Val)
c.6848C>T (p.Ala2283Val)
c.6845C>T (p.Ala2282Val)
c.6830C>T (p.Ala2277Val)
c.6803C>T (p.Ala2268Val)
c.6788C>T (p.Ala2263Val)
c.6809C>T (p.Ala2270Val)
c.6785C>T (p.Ala2262Val)
9g.128632192C>ACA467304813SPTAN1c.6864C>A (p.Ala2288=)
c.6891C>A (p.Ala2297=)
c.6915C>A (p.Ala2305=)
c.6354C>A (p.Ala2118=)
c.4433C>A
c.2770C>A
c.6828C>A (p.Ala2276=)
n.552C>A
c.6753C>A (p.Ala2251=)
c.6813C>A (p.Ala2271=)
n.782C>A
n.585C>A
c.6768C>A (p.Ala2256=)
c.6927C>A (p.Ala2309=)
c.6912C>A (p.Ala2304=)
c.6867C>A (p.Ala2289=)
c.6849C>A (p.Ala2283=)
c.6846C>A (p.Ala2282=)
c.6831C>A (p.Ala2277=)
c.6804C>A (p.Ala2268=)
c.6789C>A (p.Ala2263=)
c.6810C>A (p.Ala2270=)
c.6786C>A (p.Ala2262=)
9g.128632192C=CA1880371240SPTAN1c.6864C= (p.Ala2288=)
c.6891C= (p.Ala2297=)
c.6915C= (p.Ala2305=)
c.6354C= (p.Ala2118=)
c.4433C=
c.2770C=
c.6828C= (p.Ala2276=)
n.552C=
c.6753C= (p.Ala2251=)
c.6813C= (p.Ala2271=)
n.782C=
n.585C=
c.6768C= (p.Ala2256=)
c.6927C= (p.Ala2309=)
c.6912C= (p.Ala2304=)
c.6867C= (p.Ala2289=)
c.6849C= (p.Ala2283=)
c.6846C= (p.Ala2282=)
c.6831C= (p.Ala2277=)
c.6804C= (p.Ala2268=)
c.6789C= (p.Ala2263=)
c.6810C= (p.Ala2270=)
c.6786C= (p.Ala2262=)
9g.128632192C>GCA467304814SPTAN1c.6864C>G (p.Ala2288=)
c.6891C>G (p.Ala2297=)
c.6915C>G (p.Ala2305=)
c.6354C>G (p.Ala2118=)
c.4433C>G
c.2770C>G
c.6828C>G (p.Ala2276=)
n.552C>G
c.6753C>G (p.Ala2251=)
c.6813C>G (p.Ala2271=)
n.782C>G
n.585C>G
c.6768C>G (p.Ala2256=)
c.6927C>G (p.Ala2309=)
c.6912C>G (p.Ala2304=)
c.6867C>G (p.Ala2289=)
c.6849C>G (p.Ala2283=)
c.6846C>G (p.Ala2282=)
c.6831C>G (p.Ala2277=)
c.6804C>G (p.Ala2268=)
c.6789C>G (p.Ala2263=)
c.6810C>G (p.Ala2270=)
c.6786C>G (p.Ala2262=)
9g.128632192C>TCA467304815SPTAN1c.6864C>T (p.Ala2288=)
c.6891C>T (p.Ala2297=)
c.6915C>T (p.Ala2305=)
c.6354C>T (p.Ala2118=)
c.4433C>T
c.2770C>T
c.6828C>T (p.Ala2276=)
n.552C>T
c.6753C>T (p.Ala2251=)
c.6813C>T (p.Ala2271=)
n.782C>T
n.585C>T
c.6768C>T (p.Ala2256=)
c.6927C>T (p.Ala2309=)
c.6912C>T (p.Ala2304=)
c.6867C>T (p.Ala2289=)
c.6849C>T (p.Ala2283=)
c.6846C>T (p.Ala2282=)
c.6831C>T (p.Ala2277=)
c.6804C>T (p.Ala2268=)
c.6789C>T (p.Ala2263=)
c.6810C>T (p.Ala2270=)
c.6786C>T (p.Ala2262=)
 dbSNP gnomAD v3 gnomAD v4
9g.128632193A>CCA375097731SPTAN1c.6865A>C (p.Met2289Leu)
c.6892A>C (p.Met2298Leu)
c.6916A>C (p.Met2306Leu)
c.6355A>C (p.Met2119Leu)
c.4434A>C
c.2771A>C
c.6829A>C (p.Met2277Leu)
n.553A>C
c.6754A>C (p.Met2252Leu)
c.6814A>C (p.Met2272Leu)
n.783A>C
n.586A>C
c.6769A>C (p.Met2257Leu)
c.6928A>C (p.Met2310Leu)
c.6913A>C (p.Met2305Leu)
c.6868A>C (p.Met2290Leu)
c.6850A>C (p.Met2284Leu)
c.6847A>C (p.Met2283Leu)
c.6832A>C (p.Met2278Leu)
c.6805A>C (p.Met2269Leu)
c.6790A>C (p.Met2264Leu)
c.6811A>C (p.Met2271Leu)
c.6787A>C (p.Met2263Leu)
9g.128632193A>GCA375097734SPTAN1c.6865A>G (p.Met2289Val)
c.6892A>G (p.Met2298Val)
c.6916A>G (p.Met2306Val)
c.6355A>G (p.Met2119Val)
c.4434A>G
c.2771A>G
c.6829A>G (p.Met2277Val)
n.553A>G
c.6754A>G (p.Met2252Val)
c.6814A>G (p.Met2272Val)
n.783A>G
n.586A>G
c.6769A>G (p.Met2257Val)
c.6928A>G (p.Met2310Val)
c.6913A>G (p.Met2305Val)
c.6868A>G (p.Met2290Val)
c.6850A>G (p.Met2284Val)
c.6847A>G (p.Met2283Val)
c.6832A>G (p.Met2278Val)
c.6805A>G (p.Met2269Val)
c.6790A>G (p.Met2264Val)
c.6811A>G (p.Met2271Val)
c.6787A>G (p.Met2263Val)
9g.128632193A>TCA375097735SPTAN1c.6865A>T (p.Met2289Leu)
c.6892A>T (p.Met2298Leu)
c.6916A>T (p.Met2306Leu)
c.6355A>T (p.Met2119Leu)
c.4434A>T
c.2771A>T
c.6829A>T (p.Met2277Leu)
n.553A>T
c.6754A>T (p.Met2252Leu)
c.6814A>T (p.Met2272Leu)
n.783A>T
n.586A>T
c.6769A>T (p.Met2257Leu)
c.6928A>T (p.Met2310Leu)
c.6913A>T (p.Met2305Leu)
c.6868A>T (p.Met2290Leu)
c.6850A>T (p.Met2284Leu)
c.6847A>T (p.Met2283Leu)
c.6832A>T (p.Met2278Leu)
c.6805A>T (p.Met2269Leu)
c.6790A>T (p.Met2264Leu)
c.6811A>T (p.Met2271Leu)
c.6787A>T (p.Met2263Leu)
9g.128632194T>ACA375097736SPTAN1c.6866T>A (p.Met2289Lys)
c.6893T>A (p.Met2298Lys)
c.6917T>A (p.Met2306Lys)
c.6356T>A (p.Met2119Lys)
c.4435T>A
c.2772T>A
c.6830T>A (p.Met2277Lys)
n.554T>A
c.6755T>A (p.Met2252Lys)
c.6815T>A (p.Met2272Lys)
n.784T>A
n.587T>A
c.6770T>A (p.Met2257Lys)
c.6929T>A (p.Met2310Lys)
c.6914T>A (p.Met2305Lys)
c.6869T>A (p.Met2290Lys)
c.6851T>A (p.Met2284Lys)
c.6848T>A (p.Met2283Lys)
c.6833T>A (p.Met2278Lys)
c.6806T>A (p.Met2269Lys)
c.6791T>A (p.Met2264Lys)
c.6812T>A (p.Met2271Lys)
c.6788T>A (p.Met2263Lys)
9g.128632194T>CCA375097737SPTAN1c.6866T>C (p.Met2289Thr)
c.6893T>C (p.Met2298Thr)
c.6917T>C (p.Met2306Thr)
c.6356T>C (p.Met2119Thr)
c.4435T>C
c.2772T>C
c.6830T>C (p.Met2277Thr)
n.554T>C
c.6755T>C (p.Met2252Thr)
c.6815T>C (p.Met2272Thr)
n.784T>C
n.587T>C
c.6770T>C (p.Met2257Thr)
c.6929T>C (p.Met2310Thr)
c.6914T>C (p.Met2305Thr)
c.6869T>C (p.Met2290Thr)
c.6851T>C (p.Met2284Thr)
c.6848T>C (p.Met2283Thr)
c.6833T>C (p.Met2278Thr)
c.6806T>C (p.Met2269Thr)
c.6791T>C (p.Met2264Thr)
c.6812T>C (p.Met2271Thr)
c.6788T>C (p.Met2263Thr)
9g.128632194T>GCA375097740SPTAN1c.6866T>G (p.Met2289Arg)
c.6893T>G (p.Met2298Arg)
c.6917T>G (p.Met2306Arg)
c.6356T>G (p.Met2119Arg)
c.4435T>G
c.2772T>G
c.6830T>G (p.Met2277Arg)
n.554T>G
c.6755T>G (p.Met2252Arg)
c.6815T>G (p.Met2272Arg)
n.784T>G
n.587T>G
c.6770T>G (p.Met2257Arg)
c.6929T>G (p.Met2310Arg)
c.6914T>G (p.Met2305Arg)
c.6869T>G (p.Met2290Arg)
c.6851T>G (p.Met2284Arg)
c.6848T>G (p.Met2283Arg)
c.6833T>G (p.Met2278Arg)
c.6806T>G (p.Met2269Arg)
c.6791T>G (p.Met2264Arg)
c.6812T>G (p.Met2271Arg)
c.6788T>G (p.Met2263Arg)
9g.128632195G>ACA375097743SPTAN1c.6867G>A (p.Met2289Ile)
c.6894G>A (p.Met2298Ile)
c.6918G>A (p.Met2306Ile)
c.6357G>A (p.Met2119Ile)
c.4436G>A
c.2773G>A
c.6831G>A (p.Met2277Ile)
n.555G>A
c.6756G>A (p.Met2252Ile)
c.6816G>A (p.Met2272Ile)
n.785G>A
n.588G>A
c.6771G>A (p.Met2257Ile)
c.6930G>A (p.Met2310Ile)
c.6915G>A (p.Met2305Ile)
c.6870G>A (p.Met2290Ile)
c.6852G>A (p.Met2284Ile)
c.6849G>A (p.Met2283Ile)
c.6834G>A (p.Met2278Ile)
c.6807G>A (p.Met2269Ile)
c.6792G>A (p.Met2264Ile)
c.6813G>A (p.Met2271Ile)
c.6789G>A (p.Met2263Ile)
9g.128632195G>CCA375097747SPTAN1c.6867G>C (p.Met2289Ile)
c.6894G>C (p.Met2298Ile)
c.6918G>C (p.Met2306Ile)
c.6357G>C (p.Met2119Ile)
c.4436G>C
c.2773G>C
c.6831G>C (p.Met2277Ile)
n.555G>C
c.6756G>C (p.Met2252Ile)
c.6816G>C (p.Met2272Ile)
n.785G>C
n.588G>C
c.6771G>C (p.Met2257Ile)
c.6930G>C (p.Met2310Ile)
c.6915G>C (p.Met2305Ile)
c.6870G>C (p.Met2290Ile)
c.6852G>C (p.Met2284Ile)
c.6849G>C (p.Met2283Ile)
c.6834G>C (p.Met2278Ile)
c.6807G>C (p.Met2269Ile)
c.6792G>C (p.Met2264Ile)
c.6813G>C (p.Met2271Ile)
c.6789G>C (p.Met2263Ile)
9g.128632195G>TCA375097749SPTAN1c.6867G>T (p.Met2289Ile)
c.6894G>T (p.Met2298Ile)
c.6918G>T (p.Met2306Ile)
c.6357G>T (p.Met2119Ile)
c.4436G>T
c.2773G>T
c.6831G>T (p.Met2277Ile)
n.555G>T
c.6756G>T (p.Met2252Ile)
c.6816G>T (p.Met2272Ile)
n.785G>T
n.588G>T
c.6771G>T (p.Met2257Ile)
c.6930G>T (p.Met2310Ile)
c.6915G>T (p.Met2305Ile)
c.6870G>T (p.Met2290Ile)
c.6852G>T (p.Met2284Ile)
c.6849G>T (p.Met2283Ile)
c.6834G>T (p.Met2278Ile)
c.6807G>T (p.Met2269Ile)
c.6792G>T (p.Met2264Ile)
c.6813G>T (p.Met2271Ile)
c.6789G>T (p.Met2263Ile)
9g.128632200_128632202delCA2786021637SPTAN1c.6872_6874del (p.Glu2291del)
c.6899_6901del (p.Glu2300del)
c.6923_6925del (p.Glu2308del)
c.6362_6364del (p.Glu2121del)
c.4441_4443del
c.2778_2780del
c.6836_6838del (p.Glu2279del)
n.560_562del
c.6761_6763del (p.Glu2254del)
c.6821_6823del (p.Glu2274del)
n.790_792del
n.593_595del
c.6776_6778del (p.Glu2259del)
c.6935_6937del (p.Glu2312del)
c.6920_6922del (p.Glu2307del)
c.6875_6877del (p.Glu2292del)
c.6857_6859del (p.Glu2286del)
c.6854_6856del (p.Glu2285del)
c.6839_6841del (p.Glu2280del)
c.6812_6814del (p.Glu2271del)
c.6797_6799del (p.Glu2266del)
c.6818_6820del (p.Glu2273del)
c.6794_6796del (p.Glu2265del)
9g.128632196G>ACA375097757SPTAN1c.6868G>A (p.Glu2290Lys)
c.6895G>A (p.Glu2299Lys)
c.6919G>A (p.Glu2307Lys)
c.6358G>A (p.Glu2120Lys)
c.4437G>A
c.2774G>A
c.6832G>A (p.Glu2278Lys)
n.556G>A
c.6757G>A (p.Glu2253Lys)
c.6817G>A (p.Glu2273Lys)
n.786G>A
n.589G>A
c.6772G>A (p.Glu2258Lys)
c.6931G>A (p.Glu2311Lys)
c.6916G>A (p.Glu2306Lys)
c.6871G>A (p.Glu2291Lys)
c.6853G>A (p.Glu2285Lys)
c.6850G>A (p.Glu2284Lys)
c.6835G>A (p.Glu2279Lys)
c.6808G>A (p.Glu2270Lys)
c.6793G>A (p.Glu2265Lys)
c.6814G>A (p.Glu2272Lys)
c.6790G>A (p.Glu2264Lys)
9g.128632196G>CCA375097761SPTAN1c.6868G>C (p.Glu2290Gln)
c.6895G>C (p.Glu2299Gln)
c.6919G>C (p.Glu2307Gln)
c.6358G>C (p.Glu2120Gln)
c.4437G>C
c.2774G>C
c.6832G>C (p.Glu2278Gln)
n.556G>C
c.6757G>C (p.Glu2253Gln)
c.6817G>C (p.Glu2273Gln)
n.786G>C
n.589G>C
c.6772G>C (p.Glu2258Gln)
c.6931G>C (p.Glu2311Gln)
c.6916G>C (p.Glu2306Gln)
c.6871G>C (p.Glu2291Gln)
c.6853G>C (p.Glu2285Gln)
c.6850G>C (p.Glu2284Gln)
c.6835G>C (p.Glu2279Gln)
c.6808G>C (p.Glu2270Gln)
c.6793G>C (p.Glu2265Gln)
c.6814G>C (p.Glu2272Gln)
c.6790G>C (p.Glu2264Gln)
9g.128632196G>TCA375097753SPTAN1c.6868G>T (p.Glu2290Ter)
c.6895G>T (p.Glu2299Ter)
c.6919G>T (p.Glu2307Ter)
c.6358G>T (p.Glu2120Ter)
c.4437G>T
c.2774G>T
c.6832G>T (p.Glu2278Ter)
n.556G>T
c.6757G>T (p.Glu2253Ter)
c.6817G>T (p.Glu2273Ter)
n.786G>T
n.589G>T
c.6772G>T (p.Glu2258Ter)
c.6931G>T (p.Glu2311Ter)
c.6916G>T (p.Glu2306Ter)
c.6871G>T (p.Glu2291Ter)
c.6853G>T (p.Glu2285Ter)
c.6850G>T (p.Glu2284Ter)
c.6835G>T (p.Glu2279Ter)
c.6808G>T (p.Glu2270Ter)
c.6793G>T (p.Glu2265Ter)
c.6814G>T (p.Glu2272Ter)
c.6790G>T (p.Glu2264Ter)
9g.128632197A>CCA375097774SPTAN1c.6869A>C (p.Glu2290Ala)
c.6896A>C (p.Glu2299Ala)
c.6920A>C (p.Glu2307Ala)
c.6359A>C (p.Glu2120Ala)
c.4438A>C
c.2775A>C
c.6833A>C (p.Glu2278Ala)
n.557A>C
c.6758A>C (p.Glu2253Ala)
c.6818A>C (p.Glu2273Ala)
n.787A>C
n.590A>C
c.6773A>C (p.Glu2258Ala)
c.6932A>C (p.Glu2311Ala)
c.6917A>C (p.Glu2306Ala)
c.6872A>C (p.Glu2291Ala)
c.6854A>C (p.Glu2285Ala)
c.6851A>C (p.Glu2284Ala)
c.6836A>C (p.Glu2279Ala)
c.6809A>C (p.Glu2270Ala)
c.6794A>C (p.Glu2265Ala)
c.6815A>C (p.Glu2272Ala)
c.6791A>C (p.Glu2264Ala)
9g.128632197A>GCA375097768SPTAN1c.6869A>G (p.Glu2290Gly)
c.6896A>G (p.Glu2299Gly)
c.6920A>G (p.Glu2307Gly)
c.6359A>G (p.Glu2120Gly)
c.4438A>G
c.2775A>G
c.6833A>G (p.Glu2278Gly)
n.557A>G
c.6758A>G (p.Glu2253Gly)
c.6818A>G (p.Glu2273Gly)
n.787A>G
n.590A>G
c.6773A>G (p.Glu2258Gly)
c.6932A>G (p.Glu2311Gly)
c.6917A>G (p.Glu2306Gly)
c.6872A>G (p.Glu2291Gly)
c.6854A>G (p.Glu2285Gly)
c.6851A>G (p.Glu2284Gly)
c.6836A>G (p.Glu2279Gly)
c.6809A>G (p.Glu2270Gly)
c.6794A>G (p.Glu2265Gly)
c.6815A>G (p.Glu2272Gly)
c.6791A>G (p.Glu2264Gly)
9g.128632197A>TCA375097777SPTAN1c.6869A>T (p.Glu2290Val)
c.6896A>T (p.Glu2299Val)
c.6920A>T (p.Glu2307Val)
c.6359A>T (p.Glu2120Val)
c.4438A>T
c.2775A>T
c.6833A>T (p.Glu2278Val)
n.557A>T
c.6758A>T (p.Glu2253Val)
c.6818A>T (p.Glu2273Val)
n.787A>T
n.590A>T
c.6773A>T (p.Glu2258Val)
c.6932A>T (p.Glu2311Val)
c.6917A>T (p.Glu2306Val)
c.6872A>T (p.Glu2291Val)
c.6854A>T (p.Glu2285Val)
c.6851A>T (p.Glu2284Val)
c.6836A>T (p.Glu2279Val)
c.6809A>T (p.Glu2270Val)
c.6794A>T (p.Glu2265Val)
c.6815A>T (p.Glu2272Val)
c.6791A>T (p.Glu2264Val)
9g.128632198G>ACA467304816SPTAN1c.6870G>A (p.Glu2290=)
c.6897G>A (p.Glu2299=)
c.6921G>A (p.Glu2307=)
c.6360G>A (p.Glu2120=)
c.4439G>A
c.2776G>A
c.6834G>A (p.Glu2278=)
n.558G>A
c.6759G>A (p.Glu2253=)
c.6819G>A (p.Glu2273=)
n.788G>A
n.591G>A
c.6774G>A (p.Glu2258=)
c.6933G>A (p.Glu2311=)
c.6918G>A (p.Glu2306=)
c.6873G>A (p.Glu2291=)
c.6855G>A (p.Glu2285=)
c.6852G>A (p.Glu2284=)
c.6837G>A (p.Glu2279=)
c.6810G>A (p.Glu2270=)
c.6795G>A (p.Glu2265=)
c.6816G>A (p.Glu2272=)
c.6792G>A (p.Glu2264=)
 gnomAD v4
9g.128632198G>CCA375097783SPTAN1c.6870G>C (p.Glu2290Asp)
c.6897G>C (p.Glu2299Asp)
c.6921G>C (p.Glu2307Asp)
c.6360G>C (p.Glu2120Asp)
c.4439G>C
c.2776G>C
c.6834G>C (p.Glu2278Asp)
n.558G>C
c.6759G>C (p.Glu2253Asp)
c.6819G>C (p.Glu2273Asp)
n.788G>C
n.591G>C
c.6774G>C (p.Glu2258Asp)
c.6933G>C (p.Glu2311Asp)
c.6918G>C (p.Glu2306Asp)
c.6873G>C (p.Glu2291Asp)
c.6855G>C (p.Glu2285Asp)
c.6852G>C (p.Glu2284Asp)
c.6837G>C (p.Glu2279Asp)
c.6810G>C (p.Glu2270Asp)
c.6795G>C (p.Glu2265Asp)
c.6816G>C (p.Glu2272Asp)
c.6792G>C (p.Glu2264Asp)
9g.128632198G>TCA375097785SPTAN1c.6870G>T (p.Glu2290Asp)
c.6897G>T (p.Glu2299Asp)
c.6921G>T (p.Glu2307Asp)
c.6360G>T (p.Glu2120Asp)
c.4439G>T
c.2776G>T
c.6834G>T (p.Glu2278Asp)
n.558G>T
c.6759G>T (p.Glu2253Asp)
c.6819G>T (p.Glu2273Asp)
n.788G>T
n.591G>T
c.6774G>T (p.Glu2258Asp)
c.6933G>T (p.Glu2311Asp)
c.6918G>T (p.Glu2306Asp)
c.6873G>T (p.Glu2291Asp)
c.6855G>T (p.Glu2285Asp)
c.6852G>T (p.Glu2284Asp)
c.6837G>T (p.Glu2279Asp)
c.6810G>T (p.Glu2270Asp)
c.6795G>T (p.Glu2265Asp)
c.6816G>T (p.Glu2272Asp)
c.6792G>T (p.Glu2264Asp)
9g.128632199G>ACA375097788SPTAN1c.6871G>A (p.Glu2291Lys)
c.6898G>A (p.Glu2300Lys)
c.6922G>A (p.Glu2308Lys)
c.6361G>A (p.Glu2121Lys)
c.4440G>A
c.2777G>A
c.6835G>A (p.Glu2279Lys)
n.559G>A
c.6760G>A (p.Glu2254Lys)
c.6820G>A (p.Glu2274Lys)
n.789G>A
n.592G>A
c.6775G>A (p.Glu2259Lys)
c.6934G>A (p.Glu2312Lys)
c.6919G>A (p.Glu2307Lys)
c.6874G>A (p.Glu2292Lys)
c.6856G>A (p.Glu2286Lys)
c.6853G>A (p.Glu2285Lys)
c.6838G>A (p.Glu2280Lys)
c.6811G>A (p.Glu2271Lys)
c.6796G>A (p.Glu2266Lys)
c.6817G>A (p.Glu2273Lys)
c.6793G>A (p.Glu2265Lys)
9g.128632199G>CCA375097790SPTAN1c.6871G>C (p.Glu2291Gln)
c.6898G>C (p.Glu2300Gln)
c.6922G>C (p.Glu2308Gln)
c.6361G>C (p.Glu2121Gln)
c.4440G>C
c.2777G>C
c.6835G>C (p.Glu2279Gln)
n.559G>C
c.6760G>C (p.Glu2254Gln)
c.6820G>C (p.Glu2274Gln)
n.789G>C
n.592G>C
c.6775G>C (p.Glu2259Gln)
c.6934G>C (p.Glu2312Gln)
c.6919G>C (p.Glu2307Gln)
c.6874G>C (p.Glu2292Gln)
c.6856G>C (p.Glu2286Gln)
c.6853G>C (p.Glu2285Gln)
c.6838G>C (p.Glu2280Gln)
c.6811G>C (p.Glu2271Gln)
c.6796G>C (p.Glu2266Gln)
c.6817G>C (p.Glu2273Gln)
c.6793G>C (p.Glu2265Gln)
9g.128632199G>TCA375097793SPTAN1c.6871G>T (p.Glu2291Ter)
c.6898G>T (p.Glu2300Ter)
c.6922G>T (p.Glu2308Ter)
c.6361G>T (p.Glu2121Ter)
c.4440G>T
c.2777G>T
c.6835G>T (p.Glu2279Ter)
n.559G>T
c.6760G>T (p.Glu2254Ter)
c.6820G>T (p.Glu2274Ter)
n.789G>T
n.592G>T
c.6775G>T (p.Glu2259Ter)
c.6934G>T (p.Glu2312Ter)
c.6919G>T (p.Glu2307Ter)
c.6874G>T (p.Glu2292Ter)
c.6856G>T (p.Glu2286Ter)
c.6853G>T (p.Glu2285Ter)
c.6838G>T (p.Glu2280Ter)
c.6811G>T (p.Glu2271Ter)
c.6796G>T (p.Glu2266Ter)
c.6817G>T (p.Glu2273Ter)
c.6793G>T (p.Glu2265Ter)
9g.128632200A=CA1880371241SPTAN1c.6872A= (p.Glu2291=)
c.6899A= (p.Glu2300=)
c.6923A= (p.Glu2308=)
c.6362A= (p.Glu2121=)
c.4441A=
c.2778A=
c.6836A= (p.Glu2279=)
n.560A=
c.6761A= (p.Glu2254=)
c.6821A= (p.Glu2274=)
n.790A=
n.593A=
c.6776A= (p.Glu2259=)
c.6935A= (p.Glu2312=)
c.6920A= (p.Glu2307=)
c.6875A= (p.Glu2292=)
c.6857A= (p.Glu2286=)
c.6854A= (p.Glu2285=)
c.6839A= (p.Glu2280=)
c.6812A= (p.Glu2271=)
c.6797A= (p.Glu2266=)
c.6818A= (p.Glu2273=)
c.6794A= (p.Glu2265=)
9g.128632200A>CCA5265921SPTAN1c.6872A>C (p.Glu2291Ala)
c.6899A>C (p.Glu2300Ala)
c.6923A>C (p.Glu2308Ala)
c.6362A>C (p.Glu2121Ala)
c.4441A>C
c.2778A>C
c.6836A>C (p.Glu2279Ala)
n.560A>C
c.6761A>C (p.Glu2254Ala)
c.6821A>C (p.Glu2274Ala)
n.790A>C
n.593A>C
c.6776A>C (p.Glu2259Ala)
c.6935A>C (p.Glu2312Ala)
c.6920A>C (p.Glu2307Ala)
c.6875A>C (p.Glu2292Ala)
c.6857A>C (p.Glu2286Ala)
c.6854A>C (p.Glu2285Ala)
c.6839A>C (p.Glu2280Ala)
c.6812A>C (p.Glu2271Ala)
c.6797A>C (p.Glu2266Ala)
c.6818A>C (p.Glu2273Ala)
c.6794A>C (p.Glu2265Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.128632200A>GCA375097804SPTAN1c.6872A>G (p.Glu2291Gly)
c.6899A>G (p.Glu2300Gly)
c.6923A>G (p.Glu2308Gly)
c.6362A>G (p.Glu2121Gly)
c.4441A>G
c.2778A>G
c.6836A>G (p.Glu2279Gly)
n.560A>G
c.6761A>G (p.Glu2254Gly)
c.6821A>G (p.Glu2274Gly)
n.790A>G
n.593A>G
c.6776A>G (p.Glu2259Gly)
c.6935A>G (p.Glu2312Gly)
c.6920A>G (p.Glu2307Gly)
c.6875A>G (p.Glu2292Gly)
c.6857A>G (p.Glu2286Gly)
c.6854A>G (p.Glu2285Gly)
c.6839A>G (p.Glu2280Gly)
c.6812A>G (p.Glu2271Gly)
c.6797A>G (p.Glu2266Gly)
c.6818A>G (p.Glu2273Gly)
c.6794A>G (p.Glu2265Gly)
 gnomAD v4
9g.128632200A>TCA375097812SPTAN1c.6872A>T (p.Glu2291Val)
c.6899A>T (p.Glu2300Val)
c.6923A>T (p.Glu2308Val)
c.6362A>T (p.Glu2121Val)
c.4441A>T
c.2778A>T
c.6836A>T (p.Glu2279Val)
n.560A>T
c.6761A>T (p.Glu2254Val)
c.6821A>T (p.Glu2274Val)
n.790A>T
n.593A>T
c.6776A>T (p.Glu2259Val)
c.6935A>T (p.Glu2312Val)
c.6920A>T (p.Glu2307Val)
c.6875A>T (p.Glu2292Val)
c.6857A>T (p.Glu2286Val)
c.6854A>T (p.Glu2285Val)
c.6839A>T (p.Glu2280Val)
c.6812A>T (p.Glu2271Val)
c.6797A>T (p.Glu2266Val)
c.6818A>T (p.Glu2273Val)
c.6794A>T (p.Glu2265Val)
9g.128632201G>ACA467304817SPTAN1c.6873G>A (p.Glu2291=)
c.6900G>A (p.Glu2300=)
c.6924G>A (p.Glu2308=)
c.6363G>A (p.Glu2121=)
c.4442G>A
c.2779G>A
c.6837G>A (p.Glu2279=)
n.561G>A
c.6762G>A (p.Glu2254=)
c.6822G>A (p.Glu2274=)
n.791G>A
n.594G>A
c.6777G>A (p.Glu2259=)
c.6936G>A (p.Glu2312=)
c.6921G>A (p.Glu2307=)
c.6876G>A (p.Glu2292=)
c.6858G>A (p.Glu2286=)
c.6855G>A (p.Glu2285=)
c.6840G>A (p.Glu2280=)
c.6813G>A (p.Glu2271=)
c.6798G>A (p.Glu2266=)
c.6819G>A (p.Glu2273=)
c.6795G>A (p.Glu2265=)
 dbSNP
9g.128632201G>CCA375097819SPTAN1c.6873G>C (p.Glu2291Asp)
c.6900G>C (p.Glu2300Asp)
c.6924G>C (p.Glu2308Asp)
c.6363G>C (p.Glu2121Asp)
c.4442G>C
c.2779G>C
c.6837G>C (p.Glu2279Asp)
n.561G>C
c.6762G>C (p.Glu2254Asp)
c.6822G>C (p.Glu2274Asp)
n.791G>C
n.594G>C
c.6777G>C (p.Glu2259Asp)
c.6936G>C (p.Glu2312Asp)
c.6921G>C (p.Glu2307Asp)
c.6876G>C (p.Glu2292Asp)
c.6858G>C (p.Glu2286Asp)
c.6855G>C (p.Glu2285Asp)
c.6840G>C (p.Glu2280Asp)
c.6813G>C (p.Glu2271Asp)
c.6798G>C (p.Glu2266Asp)
c.6819G>C (p.Glu2273Asp)
c.6795G>C (p.Glu2265Asp)
9g.128632201G=CA1880371242SPTAN1c.6873G= (p.Glu2291=)
c.6900G= (p.Glu2300=)
c.6924G= (p.Glu2308=)
c.6363G= (p.Glu2121=)
c.4442G=
c.2779G=
c.6837G= (p.Glu2279=)
n.561G=
c.6762G= (p.Glu2254=)
c.6822G= (p.Glu2274=)
n.791G=
n.594G=
c.6777G= (p.Glu2259=)
c.6936G= (p.Glu2312=)
c.6921G= (p.Glu2307=)
c.6876G= (p.Glu2292=)
c.6858G= (p.Glu2286=)
c.6855G= (p.Glu2285=)
c.6840G= (p.Glu2280=)
c.6813G= (p.Glu2271=)
c.6798G= (p.Glu2266=)
c.6819G= (p.Glu2273=)
c.6795G= (p.Glu2265=)
9g.128632201G>TCA375097821SPTAN1c.6873G>T (p.Glu2291Asp)
c.6900G>T (p.Glu2300Asp)
c.6924G>T (p.Glu2308Asp)
c.6363G>T (p.Glu2121Asp)
c.4442G>T
c.2779G>T
c.6837G>T (p.Glu2279Asp)
n.561G>T
c.6762G>T (p.Glu2254Asp)
c.6822G>T (p.Glu2274Asp)
n.791G>T
n.594G>T
c.6777G>T (p.Glu2259Asp)
c.6936G>T (p.Glu2312Asp)
c.6921G>T (p.Glu2307Asp)
c.6876G>T (p.Glu2292Asp)
c.6858G>T (p.Glu2286Asp)
c.6855G>T (p.Glu2285Asp)
c.6840G>T (p.Glu2280Asp)
c.6813G>T (p.Glu2271Asp)
c.6798G>T (p.Glu2266Asp)
c.6819G>T (p.Glu2273Asp)
c.6795G>T (p.Glu2265Asp)
9g.128632202G>ACA375097828SPTAN1c.6874G>A (p.Ala2292Thr)
c.6901G>A (p.Ala2301Thr)
c.6925G>A (p.Ala2309Thr)
c.6364G>A (p.Ala2122Thr)
c.4443G>A
c.2780G>A
c.6838G>A (p.Ala2280Thr)
n.562G>A
c.6763G>A (p.Ala2255Thr)
c.6823G>A (p.Ala2275Thr)
n.792G>A
n.595G>A
c.6778G>A (p.Ala2260Thr)
c.6937G>A (p.Ala2313Thr)
c.6922G>A (p.Ala2308Thr)
c.6877G>A (p.Ala2293Thr)
c.6859G>A (p.Ala2287Thr)
c.6856G>A (p.Ala2286Thr)
c.6841G>A (p.Ala2281Thr)
c.6814G>A (p.Ala2272Thr)
c.6799G>A (p.Ala2267Thr)
c.6820G>A (p.Ala2274Thr)
c.6796G>A (p.Ala2266Thr)
9g.128632202G>CCA375097830SPTAN1c.6874G>C (p.Ala2292Pro)
c.6901G>C (p.Ala2301Pro)
c.6925G>C (p.Ala2309Pro)
c.6364G>C (p.Ala2122Pro)
c.4443G>C
c.2780G>C
c.6838G>C (p.Ala2280Pro)
n.562G>C
c.6763G>C (p.Ala2255Pro)
c.6823G>C (p.Ala2275Pro)
n.792G>C
n.595G>C
c.6778G>C (p.Ala2260Pro)
c.6937G>C (p.Ala2313Pro)
c.6922G>C (p.Ala2308Pro)
c.6877G>C (p.Ala2293Pro)
c.6859G>C (p.Ala2287Pro)
c.6856G>C (p.Ala2286Pro)
c.6841G>C (p.Ala2281Pro)
c.6814G>C (p.Ala2272Pro)
c.6799G>C (p.Ala2267Pro)
c.6820G>C (p.Ala2274Pro)
c.6796G>C (p.Ala2266Pro)
9g.128632202G>TCA375097831SPTAN1c.6874G>T (p.Ala2292Ser)
c.6901G>T (p.Ala2301Ser)
c.6925G>T (p.Ala2309Ser)
c.6364G>T (p.Ala2122Ser)
c.4443G>T
c.2780G>T
c.6838G>T (p.Ala2280Ser)
n.562G>T
c.6763G>T (p.Ala2255Ser)
c.6823G>T (p.Ala2275Ser)
n.792G>T
n.595G>T
c.6778G>T (p.Ala2260Ser)
c.6937G>T (p.Ala2313Ser)
c.6922G>T (p.Ala2308Ser)
c.6877G>T (p.Ala2293Ser)
c.6859G>T (p.Ala2287Ser)
c.6856G>T (p.Ala2286Ser)
c.6841G>T (p.Ala2281Ser)
c.6814G>T (p.Ala2272Ser)
c.6799G>T (p.Ala2267Ser)
c.6820G>T (p.Ala2274Ser)
c.6796G>T (p.Ala2266Ser)
 gnomAD v4
9g.128632203C>ACA375097834SPTAN1c.6875C>A (p.Ala2292Asp)
c.6902C>A (p.Ala2301Asp)
c.6926C>A (p.Ala2309Asp)
c.6365C>A (p.Ala2122Asp)
c.4444C>A
c.2781C>A
c.6839C>A (p.Ala2280Asp)
n.563C>A
c.6764C>A (p.Ala2255Asp)
c.6824C>A (p.Ala2275Asp)
n.793C>A
n.596C>A
c.6779C>A (p.Ala2260Asp)
c.6938C>A (p.Ala2313Asp)
c.6923C>A (p.Ala2308Asp)
c.6878C>A (p.Ala2293Asp)
c.6860C>A (p.Ala2287Asp)
c.6857C>A (p.Ala2286Asp)
c.6842C>A (p.Ala2281Asp)
c.6815C>A (p.Ala2272Asp)
c.6800C>A (p.Ala2267Asp)
c.6821C>A (p.Ala2274Asp)
c.6797C>A (p.Ala2266Asp)
9g.128632203C>GCA375097838SPTAN1c.6875C>G (p.Ala2292Gly)
c.6902C>G (p.Ala2301Gly)
c.6926C>G (p.Ala2309Gly)
c.6365C>G (p.Ala2122Gly)
c.4444C>G
c.2781C>G
c.6839C>G (p.Ala2280Gly)
n.563C>G
c.6764C>G (p.Ala2255Gly)
c.6824C>G (p.Ala2275Gly)
n.793C>G
n.596C>G
c.6779C>G (p.Ala2260Gly)
c.6938C>G (p.Ala2313Gly)
c.6923C>G (p.Ala2308Gly)
c.6878C>G (p.Ala2293Gly)
c.6860C>G (p.Ala2287Gly)
c.6857C>G (p.Ala2286Gly)
c.6842C>G (p.Ala2281Gly)
c.6815C>G (p.Ala2272Gly)
c.6800C>G (p.Ala2267Gly)
c.6821C>G (p.Ala2274Gly)
c.6797C>G (p.Ala2266Gly)
9g.128632203C>TCA375097836SPTAN1c.6875C>T (p.Ala2292Val)
c.6902C>T (p.Ala2301Val)
c.6926C>T (p.Ala2309Val)
c.6365C>T (p.Ala2122Val)
c.4444C>T
c.2781C>T
c.6839C>T (p.Ala2280Val)
n.563C>T
c.6764C>T (p.Ala2255Val)
c.6824C>T (p.Ala2275Val)
n.793C>T
n.596C>T
c.6779C>T (p.Ala2260Val)
c.6938C>T (p.Ala2313Val)
c.6923C>T (p.Ala2308Val)
c.6878C>T (p.Ala2293Val)
c.6860C>T (p.Ala2287Val)
c.6857C>T (p.Ala2286Val)
c.6842C>T (p.Ala2281Val)
c.6815C>T (p.Ala2272Val)
c.6800C>T (p.Ala2267Val)
c.6821C>T (p.Ala2274Val)
c.6797C>T (p.Ala2266Val)
 gnomAD v4
9g.128632203_128632209delinsCCCTCATCA1880371243SPTAN1c.6875_6881delinsCCCTCAT (p.Ala2292=)
c.6902_6908delinsCCCTCAT (p.Ala2301=)
c.6926_6932delinsCCCTCAT (p.Ala2309=)
c.6365_6371delinsCCCTCAT (p.Ala2122=)
c.4444_4450delinsCCCTCAT
c.2781_2787delinsCCCTCAT
c.6839_6845delinsCCCTCAT (p.Ala2280=)
n.563_569delinsCCCTCAT
c.6764_6770delinsCCCTCAT (p.Ala2255=)
c.6824_6830delinsCCCTCAT (p.Ala2275=)
n.793_799delinsCCCTCAT
n.596_602delinsCCCTCAT
c.6779_6785delinsCCCTCAT (p.Ala2260=)
c.6938_6944delinsCCCTCAT (p.Ala2313=)
c.6923_6929delinsCCCTCAT (p.Ala2308=)
c.6878_6884delinsCCCTCAT (p.Ala2293=)
c.6860_6866delinsCCCTCAT (p.Ala2287=)
c.6857_6863delinsCCCTCAT (p.Ala2286=)
c.6842_6848delinsCCCTCAT (p.Ala2281=)
c.6815_6821delinsCCCTCAT (p.Ala2272=)
c.6800_6806delinsCCCTCAT (p.Ala2267=)
c.6821_6827delinsCCCTCAT (p.Ala2274=)
c.6797_6803delinsCCCTCAT (p.Ala2266=)
9g.128632204C>ACA467304818SPTAN1c.6876C>A (p.Ala2292=)
c.6903C>A (p.Ala2301=)
c.6927C>A (p.Ala2309=)
c.6366C>A (p.Ala2122=)
c.4445C>A
c.2782C>A
c.6840C>A (p.Ala2280=)
n.564C>A
c.6765C>A (p.Ala2255=)
c.6825C>A (p.Ala2275=)
n.794C>A
n.597C>A
c.6780C>A (p.Ala2260=)
c.6939C>A (p.Ala2313=)
c.6924C>A (p.Ala2308=)
c.6879C>A (p.Ala2293=)
c.6861C>A (p.Ala2287=)
c.6858C>A (p.Ala2286=)
c.6843C>A (p.Ala2281=)
c.6816C>A (p.Ala2272=)
c.6801C>A (p.Ala2267=)
c.6822C>A (p.Ala2274=)
c.6798C>A (p.Ala2266=)
9g.128632204C=CA1880371244SPTAN1c.6876C= (p.Ala2292=)
c.6903C= (p.Ala2301=)
c.6927C= (p.Ala2309=)
c.6366C= (p.Ala2122=)
c.4445C=
c.2782C=
c.6840C= (p.Ala2280=)
n.564C=
c.6765C= (p.Ala2255=)
c.6825C= (p.Ala2275=)
n.794C=
n.597C=
c.6780C= (p.Ala2260=)
c.6939C= (p.Ala2313=)
c.6924C= (p.Ala2308=)
c.6879C= (p.Ala2293=)
c.6861C= (p.Ala2287=)
c.6858C= (p.Ala2286=)
c.6843C= (p.Ala2281=)
c.6816C= (p.Ala2272=)
c.6801C= (p.Ala2267=)
c.6822C= (p.Ala2274=)
c.6798C= (p.Ala2266=)
9g.128632204C>GCA467304819SPTAN1c.6876C>G (p.Ala2292=)
c.6903C>G (p.Ala2301=)
c.6927C>G (p.Ala2309=)
c.6366C>G (p.Ala2122=)
c.4445C>G
c.2782C>G
c.6840C>G (p.Ala2280=)
n.564C>G
c.6765C>G (p.Ala2255=)
c.6825C>G (p.Ala2275=)
n.794C>G
n.597C>G
c.6780C>G (p.Ala2260=)
c.6939C>G (p.Ala2313=)
c.6924C>G (p.Ala2308=)
c.6879C>G (p.Ala2293=)
c.6861C>G (p.Ala2287=)
c.6858C>G (p.Ala2286=)
c.6843C>G (p.Ala2281=)
c.6816C>G (p.Ala2272=)
c.6801C>G (p.Ala2267=)
c.6822C>G (p.Ala2274=)
c.6798C>G (p.Ala2266=)
9g.128632204C>TCA5265922SPTAN1c.6876C>T (p.Ala2292=)
c.6903C>T (p.Ala2301=)
c.6927C>T (p.Ala2309=)
c.6366C>T (p.Ala2122=)
c.4445C>T
c.2782C>T
c.6840C>T (p.Ala2280=)
n.564C>T
c.6765C>T (p.Ala2255=)
c.6825C>T (p.Ala2275=)
n.794C>T
n.597C>T
c.6780C>T (p.Ala2260=)
c.6939C>T (p.Ala2313=)
c.6924C>T (p.Ala2308=)
c.6879C>T (p.Ala2293=)
c.6861C>T (p.Ala2287=)
c.6858C>T (p.Ala2286=)
c.6843C>T (p.Ala2281=)
c.6816C>T (p.Ala2272=)
c.6801C>T (p.Ala2267=)
c.6822C>T (p.Ala2274=)
c.6798C>T (p.Ala2266=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.128632207_128632212delCA915947578SPTAN1c.6879_6884del (p.Ile2294_Leu2295del)
c.6906_6911del (p.Ile2303_Leu2304del)
c.6930_6935del (p.Ile2311_Leu2312del)
c.6369_6374del (p.Ile2124_Leu2125del)
c.4448_4453del
c.2785_2790del
c.6843_6848del (p.Ile2282_Leu2283del)
n.567_572del
c.6768_6773del (p.Ile2257_Leu2258del)
c.6828_6833del (p.Ile2277_Leu2278del)
n.797_802del
n.600_605del
c.6783_6788del (p.Ile2262_Leu2263del)
c.6942_6947del (p.Ile2315_Leu2316del)
c.6927_6932del (p.Ile2310_Leu2311del)
c.6882_6887del (p.Ile2295_Leu2296del)
c.6864_6869del (p.Ile2289_Leu2290del)
c.6861_6866del (p.Ile2288_Leu2289del)
c.6846_6851del (p.Ile2283_Leu2284del)
c.6819_6824del (p.Ile2274_Leu2275del)
c.6804_6809del (p.Ile2269_Leu2270del)
c.6825_6830del (p.Ile2276_Leu2277del)
c.6801_6806del (p.Ile2268_Leu2269del)
 ClinVar dbSNP
9g.128632205C>ACA375097843SPTAN1c.6877C>A (p.Leu2293Ile)
c.6904C>A (p.Leu2302Ile)
c.6928C>A (p.Leu2310Ile)
c.6367C>A (p.Leu2123Ile)
c.4446C>A
c.2783C>A
c.6841C>A (p.Leu2281Ile)
n.565C>A
c.6766C>A (p.Leu2256Ile)
c.6826C>A (p.Leu2276Ile)
n.795C>A
n.598C>A
c.6781C>A (p.Leu2261Ile)
c.6940C>A (p.Leu2314Ile)
c.6925C>A (p.Leu2309Ile)
c.6880C>A (p.Leu2294Ile)
c.6862C>A (p.Leu2288Ile)
c.6859C>A (p.Leu2287Ile)
c.6844C>A (p.Leu2282Ile)
c.6817C>A (p.Leu2273Ile)
c.6802C>A (p.Leu2268Ile)
c.6823C>A (p.Leu2275Ile)
c.6799C>A (p.Leu2267Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.128632205C=CA1880371245SPTAN1c.6877C= (p.Leu2293=)
c.6904C= (p.Leu2302=)
c.6928C= (p.Leu2310=)
c.6367C= (p.Leu2123=)
c.4446C=
c.2783C=
c.6841C= (p.Leu2281=)
n.565C=
c.6766C= (p.Leu2256=)
c.6826C= (p.Leu2276=)
n.795C=
n.598C=
c.6781C= (p.Leu2261=)
c.6940C= (p.Leu2314=)
c.6925C= (p.Leu2309=)
c.6880C= (p.Leu2294=)
c.6862C= (p.Leu2288=)
c.6859C= (p.Leu2287=)
c.6844C= (p.Leu2282=)
c.6817C= (p.Leu2273=)
c.6802C= (p.Leu2268=)
c.6823C= (p.Leu2275=)
c.6799C= (p.Leu2267=)
9g.128632205C>GCA375097861SPTAN1c.6877C>G (p.Leu2293Val)
c.6904C>G (p.Leu2302Val)
c.6928C>G (p.Leu2310Val)
c.6367C>G (p.Leu2123Val)
c.4446C>G
c.2783C>G
c.6841C>G (p.Leu2281Val)
n.565C>G
c.6766C>G (p.Leu2256Val)
c.6826C>G (p.Leu2276Val)
n.795C>G
n.598C>G
c.6781C>G (p.Leu2261Val)
c.6940C>G (p.Leu2314Val)
c.6925C>G (p.Leu2309Val)
c.6880C>G (p.Leu2294Val)
c.6862C>G (p.Leu2288Val)
c.6859C>G (p.Leu2287Val)
c.6844C>G (p.Leu2282Val)
c.6817C>G (p.Leu2273Val)
c.6802C>G (p.Leu2268Val)
c.6823C>G (p.Leu2275Val)
c.6799C>G (p.Leu2267Val)
9g.128632205C>TCA375097862SPTAN1c.6877C>T (p.Leu2293Phe)
c.6904C>T (p.Leu2302Phe)
c.6928C>T (p.Leu2310Phe)
c.6367C>T (p.Leu2123Phe)
c.4446C>T
c.2783C>T
c.6841C>T (p.Leu2281Phe)
n.565C>T
c.6766C>T (p.Leu2256Phe)
c.6826C>T (p.Leu2276Phe)
n.795C>T
n.598C>T
c.6781C>T (p.Leu2261Phe)
c.6940C>T (p.Leu2314Phe)
c.6925C>T (p.Leu2309Phe)
c.6880C>T (p.Leu2294Phe)
c.6862C>T (p.Leu2288Phe)
c.6859C>T (p.Leu2287Phe)
c.6844C>T (p.Leu2282Phe)
c.6817C>T (p.Leu2273Phe)
c.6802C>T (p.Leu2268Phe)
c.6823C>T (p.Leu2275Phe)
c.6799C>T (p.Leu2267Phe)
9g.128632206T>ACA375097869SPTAN1c.6878T>A (p.Leu2293His)
c.6905T>A (p.Leu2302His)
c.6929T>A (p.Leu2310His)
c.6368T>A (p.Leu2123His)
c.4447T>A
c.2784T>A
c.6842T>A (p.Leu2281His)
n.566T>A
c.6767T>A (p.Leu2256His)
c.6827T>A (p.Leu2276His)
n.796T>A
n.599T>A
c.6782T>A (p.Leu2261His)
c.6941T>A (p.Leu2314His)
c.6926T>A (p.Leu2309His)
c.6881T>A (p.Leu2294His)
c.6863T>A (p.Leu2288His)
c.6860T>A (p.Leu2287His)
c.6845T>A (p.Leu2282His)
c.6818T>A (p.Leu2273His)
c.6803T>A (p.Leu2268His)
c.6824T>A (p.Leu2275His)
c.6800T>A (p.Leu2267His)
9g.128632206T>CCA375097875SPTAN1c.6878T>C (p.Leu2293Pro)
c.6905T>C (p.Leu2302Pro)
c.6929T>C (p.Leu2310Pro)
c.6368T>C (p.Leu2123Pro)
c.4447T>C
c.2784T>C
c.6842T>C (p.Leu2281Pro)
n.566T>C
c.6767T>C (p.Leu2256Pro)
c.6827T>C (p.Leu2276Pro)
n.796T>C
n.599T>C
c.6782T>C (p.Leu2261Pro)
c.6941T>C (p.Leu2314Pro)
c.6926T>C (p.Leu2309Pro)
c.6881T>C (p.Leu2294Pro)
c.6863T>C (p.Leu2288Pro)
c.6860T>C (p.Leu2287Pro)
c.6845T>C (p.Leu2282Pro)
c.6818T>C (p.Leu2273Pro)
c.6803T>C (p.Leu2268Pro)
c.6824T>C (p.Leu2275Pro)
c.6800T>C (p.Leu2267Pro)
9g.128632206T>GCA375097878SPTAN1c.6878T>G (p.Leu2293Arg)
c.6905T>G (p.Leu2302Arg)
c.6929T>G (p.Leu2310Arg)
c.6368T>G (p.Leu2123Arg)
c.4447T>G
c.2784T>G
c.6842T>G (p.Leu2281Arg)
n.566T>G
c.6767T>G (p.Leu2256Arg)
c.6827T>G (p.Leu2276Arg)
n.796T>G
n.599T>G
c.6782T>G (p.Leu2261Arg)
c.6941T>G (p.Leu2314Arg)
c.6926T>G (p.Leu2309Arg)
c.6881T>G (p.Leu2294Arg)
c.6863T>G (p.Leu2288Arg)
c.6860T>G (p.Leu2287Arg)
c.6845T>G (p.Leu2282Arg)
c.6818T>G (p.Leu2273Arg)
c.6803T>G (p.Leu2268Arg)
c.6824T>G (p.Leu2275Arg)
c.6800T>G (p.Leu2267Arg)
9g.128632207C>ACA467304820SPTAN1c.6879C>A (p.Leu2293=)
c.6906C>A (p.Leu2302=)
c.6930C>A (p.Leu2310=)
c.6369C>A (p.Leu2123=)
c.4448C>A
c.2785C>A
c.6843C>A (p.Leu2281=)
n.567C>A
c.6768C>A (p.Leu2256=)
c.6828C>A (p.Leu2276=)
n.797C>A
n.600C>A
c.6783C>A (p.Leu2261=)
c.6942C>A (p.Leu2314=)
c.6927C>A (p.Leu2309=)
c.6882C>A (p.Leu2294=)
c.6864C>A (p.Leu2288=)
c.6861C>A (p.Leu2287=)
c.6846C>A (p.Leu2282=)
c.6819C>A (p.Leu2273=)
c.6804C>A (p.Leu2268=)
c.6825C>A (p.Leu2275=)
c.6801C>A (p.Leu2267=)
9g.128632207C=CA1880371246SPTAN1c.6879C= (p.Leu2293=)
c.6906C= (p.Leu2302=)
c.6930C= (p.Leu2310=)
c.6369C= (p.Leu2123=)
c.4448C=
c.2785C=
c.6843C= (p.Leu2281=)
n.567C=
c.6768C= (p.Leu2256=)
c.6828C= (p.Leu2276=)
n.797C=
n.600C=
c.6783C= (p.Leu2261=)
c.6942C= (p.Leu2314=)
c.6927C= (p.Leu2309=)
c.6882C= (p.Leu2294=)
c.6864C= (p.Leu2288=)
c.6861C= (p.Leu2287=)
c.6846C= (p.Leu2282=)
c.6819C= (p.Leu2273=)
c.6804C= (p.Leu2268=)
c.6825C= (p.Leu2275=)
c.6801C= (p.Leu2267=)
9g.128632207C>GCA467304821SPTAN1c.6879C>G (p.Leu2293=)
c.6906C>G (p.Leu2302=)
c.6930C>G (p.Leu2310=)
c.6369C>G (p.Leu2123=)
c.4448C>G
c.2785C>G
c.6843C>G (p.Leu2281=)
n.567C>G
c.6768C>G (p.Leu2256=)
c.6828C>G (p.Leu2276=)
n.797C>G
n.600C>G
c.6783C>G (p.Leu2261=)
c.6942C>G (p.Leu2314=)
c.6927C>G (p.Leu2309=)
c.6882C>G (p.Leu2294=)
c.6864C>G (p.Leu2288=)
c.6861C>G (p.Leu2287=)
c.6846C>G (p.Leu2282=)
c.6819C>G (p.Leu2273=)
c.6804C>G (p.Leu2268=)
c.6825C>G (p.Leu2275=)
c.6801C>G (p.Leu2267=)
9g.128632207C>TCA467304822SPTAN1c.6879C>T (p.Leu2293=)
c.6906C>T (p.Leu2302=)
c.6930C>T (p.Leu2310=)
c.6369C>T (p.Leu2123=)
c.4448C>T
c.2785C>T
c.6843C>T (p.Leu2281=)
n.567C>T
c.6768C>T (p.Leu2256=)
c.6828C>T (p.Leu2276=)
n.797C>T
n.600C>T
c.6783C>T (p.Leu2261=)
c.6942C>T (p.Leu2314=)
c.6927C>T (p.Leu2309=)
c.6882C>T (p.Leu2294=)
c.6864C>T (p.Leu2288=)
c.6861C>T (p.Leu2287=)
c.6846C>T (p.Leu2282=)
c.6819C>T (p.Leu2273=)
c.6804C>T (p.Leu2268=)
c.6825C>T (p.Leu2275=)
c.6801C>T (p.Leu2267=)
 dbSNP
9g.128632208A>CCA375097882SPTAN1c.6880A>C (p.Ile2294Leu)
c.6907A>C (p.Ile2303Leu)
c.6931A>C (p.Ile2311Leu)
c.6370A>C (p.Ile2124Leu)
c.4449A>C
c.2786A>C
c.6844A>C (p.Ile2282Leu)
n.568A>C
c.6769A>C (p.Ile2257Leu)
c.6829A>C (p.Ile2277Leu)
n.798A>C
n.601A>C
c.6784A>C (p.Ile2262Leu)
c.6943A>C (p.Ile2315Leu)
c.6928A>C (p.Ile2310Leu)
c.6883A>C (p.Ile2295Leu)
c.6865A>C (p.Ile2289Leu)
c.6862A>C (p.Ile2288Leu)
c.6847A>C (p.Ile2283Leu)
c.6820A>C (p.Ile2274Leu)
c.6805A>C (p.Ile2269Leu)
c.6826A>C (p.Ile2276Leu)
c.6802A>C (p.Ile2268Leu)
9g.128632208A>GCA375097885SPTAN1c.6880A>G (p.Ile2294Val)
c.6907A>G (p.Ile2303Val)
c.6931A>G (p.Ile2311Val)
c.6370A>G (p.Ile2124Val)
c.4449A>G
c.2786A>G
c.6844A>G (p.Ile2282Val)
n.568A>G
c.6769A>G (p.Ile2257Val)
c.6829A>G (p.Ile2277Val)
n.798A>G
n.601A>G
c.6784A>G (p.Ile2262Val)
c.6943A>G (p.Ile2315Val)
c.6928A>G (p.Ile2310Val)
c.6883A>G (p.Ile2295Val)
c.6865A>G (p.Ile2289Val)
c.6862A>G (p.Ile2288Val)
c.6847A>G (p.Ile2283Val)
c.6820A>G (p.Ile2274Val)
c.6805A>G (p.Ile2269Val)
c.6826A>G (p.Ile2276Val)
c.6802A>G (p.Ile2268Val)
 gnomAD v4
9g.128632208A>TCA375097893SPTAN1c.6880A>T (p.Ile2294Phe)
c.6907A>T (p.Ile2303Phe)
c.6931A>T (p.Ile2311Phe)
c.6370A>T (p.Ile2124Phe)
c.4449A>T
c.2786A>T
c.6844A>T (p.Ile2282Phe)
n.568A>T
c.6769A>T (p.Ile2257Phe)
c.6829A>T (p.Ile2277Phe)
n.798A>T
n.601A>T
c.6784A>T (p.Ile2262Phe)
c.6943A>T (p.Ile2315Phe)
c.6928A>T (p.Ile2310Phe)
c.6883A>T (p.Ile2295Phe)
c.6865A>T (p.Ile2289Phe)
c.6862A>T (p.Ile2288Phe)
c.6847A>T (p.Ile2283Phe)
c.6820A>T (p.Ile2274Phe)
c.6805A>T (p.Ile2269Phe)
c.6826A>T (p.Ile2276Phe)
c.6802A>T (p.Ile2268Phe)
9g.128632209T>ACA375097917SPTAN1c.6881T>A (p.Ile2294Asn)
c.6908T>A (p.Ile2303Asn)
c.6932T>A (p.Ile2311Asn)
c.6371T>A (p.Ile2124Asn)
c.4450T>A
c.2787T>A
c.6845T>A (p.Ile2282Asn)
n.569T>A
c.6770T>A (p.Ile2257Asn)
c.6830T>A (p.Ile2277Asn)
n.799T>A
n.602T>A
c.6785T>A (p.Ile2262Asn)
c.6944T>A (p.Ile2315Asn)
c.6929T>A (p.Ile2310Asn)
c.6884T>A (p.Ile2295Asn)
c.6866T>A (p.Ile2289Asn)
c.6863T>A (p.Ile2288Asn)
c.6848T>A (p.Ile2283Asn)
c.6821T>A (p.Ile2274Asn)
c.6806T>A (p.Ile2269Asn)
c.6827T>A (p.Ile2276Asn)
c.6803T>A (p.Ile2268Asn)
9g.128632209T>CCA375097912SPTAN1c.6881T>C (p.Ile2294Thr)
c.6908T>C (p.Ile2303Thr)
c.6932T>C (p.Ile2311Thr)
c.6371T>C (p.Ile2124Thr)
c.4450T>C
c.2787T>C
c.6845T>C (p.Ile2282Thr)
n.569T>C
c.6770T>C (p.Ile2257Thr)
c.6830T>C (p.Ile2277Thr)
n.799T>C
n.602T>C
c.6785T>C (p.Ile2262Thr)
c.6944T>C (p.Ile2315Thr)
c.6929T>C (p.Ile2310Thr)
c.6884T>C (p.Ile2295Thr)
c.6866T>C (p.Ile2289Thr)
c.6863T>C (p.Ile2288Thr)
c.6848T>C (p.Ile2283Thr)
c.6821T>C (p.Ile2274Thr)
c.6806T>C (p.Ile2269Thr)
c.6827T>C (p.Ile2276Thr)
c.6803T>C (p.Ile2268Thr)
9g.128632209T>GCA375097909SPTAN1c.6881T>G (p.Ile2294Ser)
c.6908T>G (p.Ile2303Ser)
c.6932T>G (p.Ile2311Ser)
c.6371T>G (p.Ile2124Ser)
c.4450T>G
c.2787T>G
c.6845T>G (p.Ile2282Ser)
n.569T>G
c.6770T>G (p.Ile2257Ser)
c.6830T>G (p.Ile2277Ser)
n.799T>G
n.602T>G
c.6785T>G (p.Ile2262Ser)
c.6944T>G (p.Ile2315Ser)
c.6929T>G (p.Ile2310Ser)
c.6884T>G (p.Ile2295Ser)
c.6866T>G (p.Ile2289Ser)
c.6863T>G (p.Ile2288Ser)
c.6848T>G (p.Ile2283Ser)
c.6821T>G (p.Ile2274Ser)
c.6806T>G (p.Ile2269Ser)
c.6827T>G (p.Ile2276Ser)
c.6803T>G (p.Ile2268Ser)
9g.128632210C>ACA467304824SPTAN1c.6882C>A (p.Ile2294=)
c.6909C>A (p.Ile2303=)
c.6933C>A (p.Ile2311=)
c.6372C>A (p.Ile2124=)
c.4451C>A
c.2788C>A
c.6846C>A (p.Ile2282=)
n.570C>A
c.6771C>A (p.Ile2257=)
c.6831C>A (p.Ile2277=)
n.800C>A
n.603C>A
c.6786C>A (p.Ile2262=)
c.6945C>A (p.Ile2315=)
c.6930C>A (p.Ile2310=)
c.6885C>A (p.Ile2295=)
c.6867C>A (p.Ile2289=)
c.6864C>A (p.Ile2288=)
c.6849C>A (p.Ile2283=)
c.6822C>A (p.Ile2274=)
c.6807C>A (p.Ile2269=)
c.6828C>A (p.Ile2276=)
c.6804C>A (p.Ile2268=)
9g.128632210C=CA1880371247SPTAN1c.6882C= (p.Ile2294=)
c.6909C= (p.Ile2303=)
c.6933C= (p.Ile2311=)
c.6372C= (p.Ile2124=)
c.4451C=
c.2788C=
c.6846C= (p.Ile2282=)
n.570C=
c.6771C= (p.Ile2257=)
c.6831C= (p.Ile2277=)
n.800C=
n.603C=
c.6786C= (p.Ile2262=)
c.6945C= (p.Ile2315=)
c.6930C= (p.Ile2310=)
c.6885C= (p.Ile2295=)
c.6867C= (p.Ile2289=)
c.6864C= (p.Ile2288=)
c.6849C= (p.Ile2283=)
c.6822C= (p.Ile2274=)
c.6807C= (p.Ile2269=)
c.6828C= (p.Ile2276=)
c.6804C= (p.Ile2268=)
9g.128632210C>GCA375097934SPTAN1c.6882C>G (p.Ile2294Met)
c.6909C>G (p.Ile2303Met)
c.6933C>G (p.Ile2311Met)
c.6372C>G (p.Ile2124Met)
c.4451C>G
c.2788C>G
c.6846C>G (p.Ile2282Met)
n.570C>G
c.6771C>G (p.Ile2257Met)
c.6831C>G (p.Ile2277Met)
n.800C>G
n.603C>G
c.6786C>G (p.Ile2262Met)
c.6945C>G (p.Ile2315Met)
c.6930C>G (p.Ile2310Met)
c.6885C>G (p.Ile2295Met)
c.6867C>G (p.Ile2289Met)
c.6864C>G (p.Ile2288Met)
c.6849C>G (p.Ile2283Met)
c.6822C>G (p.Ile2274Met)
c.6807C>G (p.Ile2269Met)
c.6828C>G (p.Ile2276Met)
c.6804C>G (p.Ile2268Met)
9g.128632210C>TCA467304823SPTAN1c.6882C>T (p.Ile2294=)
c.6909C>T (p.Ile2303=)
c.6933C>T (p.Ile2311=)
c.6372C>T (p.Ile2124=)
c.4451C>T
c.2788C>T
c.6846C>T (p.Ile2282=)
n.570C>T
c.6771C>T (p.Ile2257=)
c.6831C>T (p.Ile2277=)
n.800C>T
n.603C>T
c.6786C>T (p.Ile2262=)
c.6945C>T (p.Ile2315=)
c.6930C>T (p.Ile2310=)
c.6885C>T (p.Ile2295=)
c.6867C>T (p.Ile2289=)
c.6864C>T (p.Ile2288=)
c.6849C>T (p.Ile2283=)
c.6822C>T (p.Ile2274=)
c.6807C>T (p.Ile2269=)
c.6828C>T (p.Ile2276=)
c.6804C>T (p.Ile2268=)
 dbSNP gnomAD v2 gnomAD v4
9g.128632211C>ACA375097944SPTAN1c.6883C>A (p.Leu2295Met)
c.6910C>A (p.Leu2304Met)
c.6934C>A (p.Leu2312Met)
c.6373C>A (p.Leu2125Met)
c.4452C>A
c.2789C>A
c.6847C>A (p.Leu2283Met)
n.571C>A
c.6772C>A (p.Leu2258Met)
c.6832C>A (p.Leu2278Met)
n.801C>A
n.604C>A
c.6787C>A (p.Leu2263Met)
c.6946C>A (p.Leu2316Met)
c.6931C>A (p.Leu2311Met)
c.6886C>A (p.Leu2296Met)
c.6868C>A (p.Leu2290Met)
c.6865C>A (p.Leu2289Met)
c.6850C>A (p.Leu2284Met)
c.6823C>A (p.Leu2275Met)
c.6808C>A (p.Leu2270Met)
c.6829C>A (p.Leu2277Met)
c.6805C>A (p.Leu2269Met)
9g.128632211C>GCA375097950SPTAN1c.6883C>G (p.Leu2295Val)
c.6910C>G (p.Leu2304Val)
c.6934C>G (p.Leu2312Val)
c.6373C>G (p.Leu2125Val)
c.4452C>G
c.2789C>G
c.6847C>G (p.Leu2283Val)
n.571C>G
c.6772C>G (p.Leu2258Val)
c.6832C>G (p.Leu2278Val)
n.801C>G
n.604C>G
c.6787C>G (p.Leu2263Val)
c.6946C>G (p.Leu2316Val)
c.6931C>G (p.Leu2311Val)
c.6886C>G (p.Leu2296Val)
c.6868C>G (p.Leu2290Val)
c.6865C>G (p.Leu2289Val)
c.6850C>G (p.Leu2284Val)
c.6823C>G (p.Leu2275Val)
c.6808C>G (p.Leu2270Val)
c.6829C>G (p.Leu2277Val)
c.6805C>G (p.Leu2269Val)
9g.128632211C>TCA467304825SPTAN1c.6883C>T (p.Leu2295=)
c.6910C>T (p.Leu2304=)
c.6934C>T (p.Leu2312=)
c.6373C>T (p.Leu2125=)
c.4452C>T
c.2789C>T
c.6847C>T (p.Leu2283=)
n.571C>T
c.6772C>T (p.Leu2258=)
c.6832C>T (p.Leu2278=)
n.801C>T
n.604C>T
c.6787C>T (p.Leu2263=)
c.6946C>T (p.Leu2316=)
c.6931C>T (p.Leu2311=)
c.6886C>T (p.Leu2296=)
c.6868C>T (p.Leu2290=)
c.6865C>T (p.Leu2289=)
c.6850C>T (p.Leu2284=)
c.6823C>T (p.Leu2275=)
c.6808C>T (p.Leu2270=)
c.6829C>T (p.Leu2277=)
c.6805C>T (p.Leu2269=)
9g.128632212T>ACA375097955SPTAN1c.6884T>A (p.Leu2295Gln)
c.6911T>A (p.Leu2304Gln)
c.6935T>A (p.Leu2312Gln)
c.6374T>A (p.Leu2125Gln)
c.4453T>A
c.2790T>A
c.6848T>A (p.Leu2283Gln)
n.572T>A
c.6773T>A (p.Leu2258Gln)
c.6833T>A (p.Leu2278Gln)
n.802T>A
n.605T>A
c.6788T>A (p.Leu2263Gln)
c.6947T>A (p.Leu2316Gln)
c.6932T>A (p.Leu2311Gln)
c.6887T>A (p.Leu2296Gln)
c.6869T>A (p.Leu2290Gln)
c.6866T>A (p.Leu2289Gln)
c.6851T>A (p.Leu2284Gln)
c.6824T>A (p.Leu2275Gln)
c.6809T>A (p.Leu2270Gln)
c.6830T>A (p.Leu2277Gln)
c.6806T>A (p.Leu2269Gln)
9g.128632212T>CCA375097958SPTAN1c.6884T>C (p.Leu2295Pro)
c.6911T>C (p.Leu2304Pro)
c.6935T>C (p.Leu2312Pro)
c.6374T>C (p.Leu2125Pro)
c.4453T>C
c.2790T>C
c.6848T>C (p.Leu2283Pro)
n.572T>C
c.6773T>C (p.Leu2258Pro)
c.6833T>C (p.Leu2278Pro)
n.802T>C
n.605T>C
c.6788T>C (p.Leu2263Pro)
c.6947T>C (p.Leu2316Pro)
c.6932T>C (p.Leu2311Pro)
c.6887T>C (p.Leu2296Pro)
c.6869T>C (p.Leu2290Pro)
c.6866T>C (p.Leu2289Pro)
c.6851T>C (p.Leu2284Pro)
c.6824T>C (p.Leu2275Pro)
c.6809T>C (p.Leu2270Pro)
c.6830T>C (p.Leu2277Pro)
c.6806T>C (p.Leu2269Pro)
9g.128632212T>GCA375097962SPTAN1c.6884T>G (p.Leu2295Arg)
c.6911T>G (p.Leu2304Arg)
c.6935T>G (p.Leu2312Arg)
c.6374T>G (p.Leu2125Arg)
c.4453T>G
c.2790T>G
c.6848T>G (p.Leu2283Arg)
n.572T>G
c.6773T>G (p.Leu2258Arg)
c.6833T>G (p.Leu2278Arg)
n.802T>G
n.605T>G
c.6788T>G (p.Leu2263Arg)
c.6947T>G (p.Leu2316Arg)
c.6932T>G (p.Leu2311Arg)
c.6887T>G (p.Leu2296Arg)
c.6869T>G (p.Leu2290Arg)
c.6866T>G (p.Leu2289Arg)
c.6851T>G (p.Leu2284Arg)
c.6824T>G (p.Leu2275Arg)
c.6809T>G (p.Leu2270Arg)
c.6830T>G (p.Leu2277Arg)
c.6806T>G (p.Leu2269Arg)
9g.128632213G>ACA467304826SPTAN1c.6885G>A (p.Leu2295=)
c.6912G>A (p.Leu2304=)
c.6936G>A (p.Leu2312=)
c.6375G>A (p.Leu2125=)
c.4454G>A
c.2791G>A
c.6849G>A (p.Leu2283=)
n.573G>A
c.6774G>A (p.Leu2258=)
c.6834G>A (p.Leu2278=)
n.803G>A
n.606G>A
c.6789G>A (p.Leu2263=)
c.6948G>A (p.Leu2316=)
c.6933G>A (p.Leu2311=)
c.6888G>A (p.Leu2296=)
c.6870G>A (p.Leu2290=)
c.6867G>A (p.Leu2289=)
c.6852G>A (p.Leu2284=)
c.6825G>A (p.Leu2275=)
c.6810G>A (p.Leu2270=)
c.6831G>A (p.Leu2277=)
c.6807G>A (p.Leu2269=)
 gnomAD v4
9g.128632213G>CCA467304827SPTAN1c.6885G>C (p.Leu2295=)
c.6912G>C (p.Leu2304=)
c.6936G>C (p.Leu2312=)
c.6375G>C (p.Leu2125=)
c.4454G>C
c.2791G>C
c.6849G>C (p.Leu2283=)
n.573G>C
c.6774G>C (p.Leu2258=)
c.6834G>C (p.Leu2278=)
n.803G>C
n.606G>C
c.6789G>C (p.Leu2263=)
c.6948G>C (p.Leu2316=)
c.6933G>C (p.Leu2311=)
c.6888G>C (p.Leu2296=)
c.6870G>C (p.Leu2290=)
c.6867G>C (p.Leu2289=)
c.6852G>C (p.Leu2284=)
c.6825G>C (p.Leu2275=)
c.6810G>C (p.Leu2270=)
c.6831G>C (p.Leu2277=)
c.6807G>C (p.Leu2269=)
9g.128632213G>TCA467304828SPTAN1c.6885G>T (p.Leu2295=)
c.6912G>T (p.Leu2304=)
c.6936G>T (p.Leu2312=)
c.6375G>T (p.Leu2125=)
c.4454G>T
c.2791G>T
c.6849G>T (p.Leu2283=)
n.573G>T
c.6774G>T (p.Leu2258=)
c.6834G>T (p.Leu2278=)
n.803G>T
n.606G>T
c.6789G>T (p.Leu2263=)
c.6948G>T (p.Leu2316=)
c.6933G>T (p.Leu2311=)
c.6888G>T (p.Leu2296=)
c.6870G>T (p.Leu2290=)
c.6867G>T (p.Leu2289=)
c.6852G>T (p.Leu2284=)
c.6825G>T (p.Leu2275=)
c.6810G>T (p.Leu2270=)
c.6831G>T (p.Leu2277=)
c.6807G>T (p.Leu2269=)
9g.128632214G>ACA375097990SPTAN1c.6886G>A (p.Asp2296Asn)
c.6913G>A (p.Asp2305Asn)
c.6937G>A (p.Asp2313Asn)
c.6376G>A (p.Asp2126Asn)
c.4455G>A
c.2792G>A
c.6850G>A (p.Asp2284Asn)
n.574G>A
c.6775G>A (p.Asp2259Asn)
c.6835G>A (p.Asp2279Asn)
n.804G>A
n.607G>A
c.6790G>A (p.Asp2264Asn)
c.6949G>A (p.Asp2317Asn)
c.6934G>A (p.Asp2312Asn)
c.6889G>A (p.Asp2297Asn)
c.6871G>A (p.Asp2291Asn)
c.6868G>A (p.Asp2290Asn)
c.6853G>A (p.Asp2285Asn)
c.6826G>A (p.Asp2276Asn)
c.6811G>A (p.Asp2271Asn)
c.6832G>A (p.Asp2278Asn)
c.6808G>A (p.Asp2270Asn)
9g.128632214G>CCA375097973SPTAN1c.6886G>C (p.Asp2296His)
c.6913G>C (p.Asp2305His)
c.6937G>C (p.Asp2313His)
c.6376G>C (p.Asp2126His)
c.4455G>C
c.2792G>C
c.6850G>C (p.Asp2284His)
n.574G>C
c.6775G>C (p.Asp2259His)
c.6835G>C (p.Asp2279His)
n.804G>C
n.607G>C
c.6790G>C (p.Asp2264His)
c.6949G>C (p.Asp2317His)
c.6934G>C (p.Asp2312His)
c.6889G>C (p.Asp2297His)
c.6871G>C (p.Asp2291His)
c.6868G>C (p.Asp2290His)
c.6853G>C (p.Asp2285His)
c.6826G>C (p.Asp2276His)
c.6811G>C (p.Asp2271His)
c.6832G>C (p.Asp2278His)
c.6808G>C (p.Asp2270His)
9g.128632214G>TCA375097986SPTAN1c.6886G>T (p.Asp2296Tyr)
c.6913G>T (p.Asp2305Tyr)
c.6937G>T (p.Asp2313Tyr)
c.6376G>T (p.Asp2126Tyr)
c.4455G>T
c.2792G>T
c.6850G>T (p.Asp2284Tyr)
n.574G>T
c.6775G>T (p.Asp2259Tyr)
c.6835G>T (p.Asp2279Tyr)
n.804G>T
n.607G>T
c.6790G>T (p.Asp2264Tyr)
c.6949G>T (p.Asp2317Tyr)
c.6934G>T (p.Asp2312Tyr)
c.6889G>T (p.Asp2297Tyr)
c.6871G>T (p.Asp2291Tyr)
c.6868G>T (p.Asp2290Tyr)
c.6853G>T (p.Asp2285Tyr)
c.6826G>T (p.Asp2276Tyr)
c.6811G>T (p.Asp2271Tyr)
c.6832G>T (p.Asp2278Tyr)
c.6808G>T (p.Asp2270Tyr)
9g.128632214_128632216delCA913184751SPTAN1c.6886_6888del (p.Asp2296del)
c.6913_6915del (p.Asp2305del)
c.6937_6939del (p.Asp2313del)
c.6376_6378del (p.Asp2126del)
c.4455_4457del
c.2792_2794del
c.6850_6852del (p.Asp2284del)
n.574_576del
c.6775_6777del (p.Asp2259del)
c.6835_6837del (p.Asp2279del)
n.804_806del
n.607_609del
c.6790_6792del (p.Asp2264del)
c.6949_6951del (p.Asp2317del)
c.6934_6936del (p.Asp2312del)
c.6889_6891del (p.Asp2297del)
c.6871_6873del (p.Asp2291del)
c.6868_6870del (p.Asp2290del)
c.6853_6855del (p.Asp2285del)
c.6826_6828del (p.Asp2276del)
c.6811_6813del (p.Asp2271del)
c.6832_6834del (p.Asp2278del)
c.6808_6810del (p.Asp2270del)
 ClinVar dbSNP
9g.128632215A>CCA375097998SPTAN1c.6887A>C (p.Asp2296Ala)
c.6914A>C (p.Asp2305Ala)
c.6938A>C (p.Asp2313Ala)
c.6377A>C (p.Asp2126Ala)
c.4456A>C
c.2793A>C
c.6851A>C (p.Asp2284Ala)
n.575A>C
c.6776A>C (p.Asp2259Ala)
c.6836A>C (p.Asp2279Ala)
n.805A>C
n.608A>C
c.6791A>C (p.Asp2264Ala)
c.6950A>C (p.Asp2317Ala)
c.6935A>C (p.Asp2312Ala)
c.6890A>C (p.Asp2297Ala)
c.6872A>C (p.Asp2291Ala)
c.6869A>C (p.Asp2290Ala)
c.6854A>C (p.Asp2285Ala)
c.6827A>C (p.Asp2276Ala)
c.6812A>C (p.Asp2271Ala)
c.6833A>C (p.Asp2278Ala)
c.6809A>C (p.Asp2270Ala)
9g.128632215A>GCA375098000SPTAN1c.6887A>G (p.Asp2296Gly)
c.6914A>G (p.Asp2305Gly)
c.6938A>G (p.Asp2313Gly)
c.6377A>G (p.Asp2126Gly)
c.4456A>G
c.2793A>G
c.6851A>G (p.Asp2284Gly)
n.575A>G
c.6776A>G (p.Asp2259Gly)
c.6836A>G (p.Asp2279Gly)
n.805A>G
n.608A>G
c.6791A>G (p.Asp2264Gly)
c.6950A>G (p.Asp2317Gly)
c.6935A>G (p.Asp2312Gly)
c.6890A>G (p.Asp2297Gly)
c.6872A>G (p.Asp2291Gly)
c.6869A>G (p.Asp2290Gly)
c.6854A>G (p.Asp2285Gly)
c.6827A>G (p.Asp2276Gly)
c.6812A>G (p.Asp2271Gly)
c.6833A>G (p.Asp2278Gly)
c.6809A>G (p.Asp2270Gly)
9g.128632215A>TCA375098007SPTAN1c.6887A>T (p.Asp2296Val)
c.6914A>T (p.Asp2305Val)
c.6938A>T (p.Asp2313Val)
c.6377A>T (p.Asp2126Val)
c.4456A>T
c.2793A>T
c.6851A>T (p.Asp2284Val)
n.575A>T
c.6776A>T (p.Asp2259Val)
c.6836A>T (p.Asp2279Val)
n.805A>T
n.608A>T
c.6791A>T (p.Asp2264Val)
c.6950A>T (p.Asp2317Val)
c.6935A>T (p.Asp2312Val)
c.6890A>T (p.Asp2297Val)
c.6872A>T (p.Asp2291Val)
c.6869A>T (p.Asp2290Val)
c.6854A>T (p.Asp2285Val)
c.6827A>T (p.Asp2276Val)
c.6812A>T (p.Asp2271Val)
c.6833A>T (p.Asp2278Val)
c.6809A>T (p.Asp2270Val)
9g.128632219_128632221delCA2579470529SPTAN1c.6891_6893del (p.Asn2297del)
c.6918_6920del (p.Asn2306del)
c.6942_6944del (p.Asn2314del)
c.6381_6383del (p.Asn2127del)
c.4460_4462del
c.2797_2799del
c.6855_6857del (p.Asn2285del)
n.579_581del
c.6780_6782del (p.Asn2260del)
c.6840_6842del (p.Asn2280del)
n.809_811del
n.612_614del
c.6795_6797del (p.Asn2265del)
c.6954_6956del (p.Asn2318del)
c.6939_6941del (p.Asn2313del)
c.6894_6896del (p.Asn2298del)
c.6876_6878del (p.Asn2292del)
c.6873_6875del (p.Asn2291del)
c.6858_6860del (p.Asn2286del)
c.6831_6833del (p.Asn2277del)
c.6816_6818del (p.Asn2272del)
c.6837_6839del (p.Asn2279del)
c.6813_6815del (p.Asn2271del)
 ClinVar dbSNP
9g.128632216C>ACA375098017SPTAN1c.6888C>A (p.Asp2296Glu)
c.6915C>A (p.Asp2305Glu)
c.6939C>A (p.Asp2313Glu)
c.6378C>A (p.Asp2126Glu)
c.4457C>A
c.2794C>A
c.6852C>A (p.Asp2284Glu)
n.576C>A
c.6777C>A (p.Asp2259Glu)
c.6837C>A (p.Asp2279Glu)
n.806C>A
n.609C>A
c.6792C>A (p.Asp2264Glu)
c.6951C>A (p.Asp2317Glu)
c.6936C>A (p.Asp2312Glu)
c.6891C>A (p.Asp2297Glu)
c.6873C>A (p.Asp2291Glu)
c.6870C>A (p.Asp2290Glu)
c.6855C>A (p.Asp2285Glu)
c.6828C>A (p.Asp2276Glu)
c.6813C>A (p.Asp2271Glu)
c.6834C>A (p.Asp2278Glu)
c.6810C>A (p.Asp2270Glu)
9g.128632216C>GCA375098019SPTAN1c.6888C>G (p.Asp2296Glu)
c.6915C>G (p.Asp2305Glu)
c.6939C>G (p.Asp2313Glu)
c.6378C>G (p.Asp2126Glu)
c.4457C>G
c.2794C>G
c.6852C>G (p.Asp2284Glu)
n.576C>G
c.6777C>G (p.Asp2259Glu)
c.6837C>G (p.Asp2279Glu)
n.806C>G
n.609C>G
c.6792C>G (p.Asp2264Glu)
c.6951C>G (p.Asp2317Glu)
c.6936C>G (p.Asp2312Glu)
c.6891C>G (p.Asp2297Glu)
c.6873C>G (p.Asp2291Glu)
c.6870C>G (p.Asp2290Glu)
c.6855C>G (p.Asp2285Glu)
c.6828C>G (p.Asp2276Glu)
c.6813C>G (p.Asp2271Glu)
c.6834C>G (p.Asp2278Glu)
c.6810C>G (p.Asp2270Glu)
9g.128632216C>TCA467304829SPTAN1c.6888C>T (p.Asp2296=)
c.6915C>T (p.Asp2305=)
c.6939C>T (p.Asp2313=)
c.6378C>T (p.Asp2126=)
c.4457C>T
c.2794C>T
c.6852C>T (p.Asp2284=)
n.576C>T
c.6777C>T (p.Asp2259=)
c.6837C>T (p.Asp2279=)
n.806C>T
n.609C>T
c.6792C>T (p.Asp2264=)
c.6951C>T (p.Asp2317=)
c.6936C>T (p.Asp2312=)
c.6891C>T (p.Asp2297=)
c.6873C>T (p.Asp2291=)
c.6870C>T (p.Asp2290=)
c.6855C>T (p.Asp2285=)
c.6828C>T (p.Asp2276=)
c.6813C>T (p.Asp2271=)
c.6834C>T (p.Asp2278=)
c.6810C>T (p.Asp2270=)
9g.128632217A=CA1880371248SPTAN1c.6889A= (p.Asn2297=)
c.6916A= (p.Asn2306=)
c.6940A= (p.Asn2314=)
c.6379A= (p.Asn2127=)
c.4458A=
c.2795A=
c.6853A= (p.Asn2285=)
n.577A=
c.6778A= (p.Asn2260=)
c.6838A= (p.Asn2280=)
n.807A=
n.610A=
c.6793A= (p.Asn2265=)
c.6952A= (p.Asn2318=)
c.6937A= (p.Asn2313=)
c.6892A= (p.Asn2298=)
c.6874A= (p.Asn2292=)
c.6871A= (p.Asn2291=)
c.6856A= (p.Asn2286=)
c.6829A= (p.Asn2277=)
c.6814A= (p.Asn2272=)
c.6835A= (p.Asn2279=)
c.6811A= (p.Asn2271=)
9g.128632217A>CCA375098026SPTAN1c.6889A>C (p.Asn2297His)
c.6916A>C (p.Asn2306His)
c.6940A>C (p.Asn2314His)
c.6379A>C (p.Asn2127His)
c.4458A>C
c.2795A>C
c.6853A>C (p.Asn2285His)
n.577A>C
c.6778A>C (p.Asn2260His)
c.6838A>C (p.Asn2280His)
n.807A>C
n.610A>C
c.6793A>C (p.Asn2265His)
c.6952A>C (p.Asn2318His)
c.6937A>C (p.Asn2313His)
c.6892A>C (p.Asn2298His)
c.6874A>C (p.Asn2292His)
c.6871A>C (p.Asn2291His)
c.6856A>C (p.Asn2286His)
c.6829A>C (p.Asn2277His)
c.6814A>C (p.Asn2272His)
c.6835A>C (p.Asn2279His)
c.6811A>C (p.Asn2271His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.128632217A>GCA375098037SPTAN1c.6889A>G (p.Asn2297Asp)
c.6916A>G (p.Asn2306Asp)
c.6940A>G (p.Asn2314Asp)
c.6379A>G (p.Asn2127Asp)
c.4458A>G
c.2795A>G
c.6853A>G (p.Asn2285Asp)
n.577A>G
c.6778A>G (p.Asn2260Asp)
c.6838A>G (p.Asn2280Asp)
n.807A>G
n.610A>G
c.6793A>G (p.Asn2265Asp)
c.6952A>G (p.Asn2318Asp)
c.6937A>G (p.Asn2313Asp)
c.6892A>G (p.Asn2298Asp)
c.6874A>G (p.Asn2292Asp)
c.6871A>G (p.Asn2291Asp)
c.6856A>G (p.Asn2286Asp)
c.6829A>G (p.Asn2277Asp)
c.6814A>G (p.Asn2272Asp)
c.6835A>G (p.Asn2279Asp)
c.6811A>G (p.Asn2271Asp)
9g.128632217A>TCA375098033SPTAN1c.6889A>T (p.Asn2297Tyr)
c.6916A>T (p.Asn2306Tyr)
c.6940A>T (p.Asn2314Tyr)
c.6379A>T (p.Asn2127Tyr)
c.4458A>T
c.2795A>T
c.6853A>T (p.Asn2285Tyr)
n.577A>T
c.6778A>T (p.Asn2260Tyr)
c.6838A>T (p.Asn2280Tyr)
n.807A>T
n.610A>T
c.6793A>T (p.Asn2265Tyr)
c.6952A>T (p.Asn2318Tyr)
c.6937A>T (p.Asn2313Tyr)
c.6892A>T (p.Asn2298Tyr)
c.6874A>T (p.Asn2292Tyr)
c.6871A>T (p.Asn2291Tyr)
c.6856A>T (p.Asn2286Tyr)
c.6829A>T (p.Asn2277Tyr)
c.6814A>T (p.Asn2272Tyr)
c.6835A>T (p.Asn2279Tyr)
c.6811A>T (p.Asn2271Tyr)
9g.128632218A=CA1880371249SPTAN1c.6890A= (p.Asn2297=)
c.6917A= (p.Asn2306=)
c.6941A= (p.Asn2314=)
c.6380A= (p.Asn2127=)
c.4459A=
c.2796A=
c.6854A= (p.Asn2285=)
n.578A=
c.6779A= (p.Asn2260=)
c.6839A= (p.Asn2280=)
n.808A=
n.611A=
c.6794A= (p.Asn2265=)
c.6953A= (p.Asn2318=)
c.6938A= (p.Asn2313=)
c.6893A= (p.Asn2298=)
c.6875A= (p.Asn2292=)
c.6872A= (p.Asn2291=)
c.6857A= (p.Asn2286=)
c.6830A= (p.Asn2277=)
c.6815A= (p.Asn2272=)
c.6836A= (p.Asn2279=)
c.6812A= (p.Asn2271=)
9g.128632218A>CCA375098041SPTAN1c.6890A>C (p.Asn2297Thr)
c.6917A>C (p.Asn2306Thr)
c.6941A>C (p.Asn2314Thr)
c.6380A>C (p.Asn2127Thr)
c.4459A>C
c.2796A>C
c.6854A>C (p.Asn2285Thr)
n.578A>C
c.6779A>C (p.Asn2260Thr)
c.6839A>C (p.Asn2280Thr)
n.808A>C
n.611A>C
c.6794A>C (p.Asn2265Thr)
c.6953A>C (p.Asn2318Thr)
c.6938A>C (p.Asn2313Thr)
c.6893A>C (p.Asn2298Thr)
c.6875A>C (p.Asn2292Thr)
c.6872A>C (p.Asn2291Thr)
c.6857A>C (p.Asn2286Thr)
c.6830A>C (p.Asn2277Thr)
c.6815A>C (p.Asn2272Thr)
c.6836A>C (p.Asn2279Thr)
c.6812A>C (p.Asn2271Thr)
9g.128632218A>GCA375098046SPTAN1c.6890A>G (p.Asn2297Ser)
c.6917A>G (p.Asn2306Ser)
c.6941A>G (p.Asn2314Ser)
c.6380A>G (p.Asn2127Ser)
c.4459A>G
c.2796A>G
c.6854A>G (p.Asn2285Ser)
n.578A>G
c.6779A>G (p.Asn2260Ser)
c.6839A>G (p.Asn2280Ser)
n.808A>G
n.611A>G
c.6794A>G (p.Asn2265Ser)
c.6953A>G (p.Asn2318Ser)
c.6938A>G (p.Asn2313Ser)
c.6893A>G (p.Asn2298Ser)
c.6875A>G (p.Asn2292Ser)
c.6872A>G (p.Asn2291Ser)
c.6857A>G (p.Asn2286Ser)
c.6830A>G (p.Asn2277Ser)
c.6815A>G (p.Asn2272Ser)
c.6836A>G (p.Asn2279Ser)
c.6812A>G (p.Asn2271Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.128632218A>TCA375098062SPTAN1c.6890A>T (p.Asn2297Ile)
c.6917A>T (p.Asn2306Ile)
c.6941A>T (p.Asn2314Ile)
c.6380A>T (p.Asn2127Ile)
c.4459A>T
c.2796A>T
c.6854A>T (p.Asn2285Ile)
n.578A>T
c.6779A>T (p.Asn2260Ile)
c.6839A>T (p.Asn2280Ile)
n.808A>T
n.611A>T
c.6794A>T (p.Asn2265Ile)
c.6953A>T (p.Asn2318Ile)
c.6938A>T (p.Asn2313Ile)
c.6893A>T (p.Asn2298Ile)
c.6875A>T (p.Asn2292Ile)
c.6872A>T (p.Asn2291Ile)
c.6857A>T (p.Asn2286Ile)
c.6830A>T (p.Asn2277Ile)
c.6815A>T (p.Asn2272Ile)
c.6836A>T (p.Asn2279Ile)
c.6812A>T (p.Asn2271Ile)
9g.128632219C>ACA375098064SPTAN1c.6891C>A (p.Asn2297Lys)
c.6918C>A (p.Asn2306Lys)
c.6942C>A (p.Asn2314Lys)
c.6381C>A (p.Asn2127Lys)
c.4460C>A
c.2797C>A
c.6855C>A (p.Asn2285Lys)
n.579C>A
c.6780C>A (p.Asn2260Lys)
c.6840C>A (p.Asn2280Lys)
n.809C>A
n.612C>A
c.6795C>A (p.Asn2265Lys)
c.6954C>A (p.Asn2318Lys)
c.6939C>A (p.Asn2313Lys)
c.6894C>A (p.Asn2298Lys)
c.6876C>A (p.Asn2292Lys)
c.6873C>A (p.Asn2291Lys)
c.6858C>A (p.Asn2286Lys)
c.6831C>A (p.Asn2277Lys)
c.6816C>A (p.Asn2272Lys)
c.6837C>A (p.Asn2279Lys)
c.6813C>A (p.Asn2271Lys)
9g.128632219C=CA1880371250SPTAN1c.6891C= (p.Asn2297=)
c.6918C= (p.Asn2306=)
c.6942C= (p.Asn2314=)
c.6381C= (p.Asn2127=)
c.4460C=
c.2797C=
c.6855C= (p.Asn2285=)
n.579C=
c.6780C= (p.Asn2260=)
c.6840C= (p.Asn2280=)
n.809C=
n.612C=
c.6795C= (p.Asn2265=)
c.6954C= (p.Asn2318=)
c.6939C= (p.Asn2313=)
c.6894C= (p.Asn2298=)
c.6876C= (p.Asn2292=)
c.6873C= (p.Asn2291=)
c.6858C= (p.Asn2286=)
c.6831C= (p.Asn2277=)
c.6816C= (p.Asn2272=)
c.6837C= (p.Asn2279=)
c.6813C= (p.Asn2271=)
9g.128632219C>GCA5265923SPTAN1c.6891C>G (p.Asn2297Lys)
c.6918C>G (p.Asn2306Lys)
c.6942C>G (p.Asn2314Lys)
c.6381C>G (p.Asn2127Lys)
c.4460C>G
c.2797C>G
c.6855C>G (p.Asn2285Lys)
n.579C>G
c.6780C>G (p.Asn2260Lys)
c.6840C>G (p.Asn2280Lys)
n.809C>G
n.612C>G
c.6795C>G (p.Asn2265Lys)
c.6954C>G (p.Asn2318Lys)
c.6939C>G (p.Asn2313Lys)
c.6894C>G (p.Asn2298Lys)
c.6876C>G (p.Asn2292Lys)
c.6873C>G (p.Asn2291Lys)
c.6858C>G (p.Asn2286Lys)
c.6831C>G (p.Asn2277Lys)
c.6816C>G (p.Asn2272Lys)
c.6837C>G (p.Asn2279Lys)
c.6813C>G (p.Asn2271Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.128632219C>TCA467304830SPTAN1c.6891C>T (p.Asn2297=)
c.6918C>T (p.Asn2306=)
c.6942C>T (p.Asn2314=)
c.6381C>T (p.Asn2127=)
c.4460C>T
c.2797C>T
c.6855C>T (p.Asn2285=)
n.579C>T
c.6780C>T (p.Asn2260=)
c.6840C>T (p.Asn2280=)
n.809C>T
n.612C>T
c.6795C>T (p.Asn2265=)
c.6954C>T (p.Asn2318=)
c.6939C>T (p.Asn2313=)
c.6894C>T (p.Asn2298=)
c.6876C>T (p.Asn2292=)
c.6873C>T (p.Asn2291=)
c.6858C>T (p.Asn2286=)
c.6831C>T (p.Asn2277=)
c.6816C>T (p.Asn2272=)
c.6837C>T (p.Asn2279=)
c.6813C>T (p.Asn2271=)
9g.128632220A>CCA375098071SPTAN1c.6892A>C (p.Lys2298Gln)
c.6919A>C (p.Lys2307Gln)
c.6943A>C (p.Lys2315Gln)
c.6382A>C (p.Lys2128Gln)
c.4461A>C
c.2798A>C
c.6856A>C (p.Lys2286Gln)
n.580A>C
c.6781A>C (p.Lys2261Gln)
c.6841A>C (p.Lys2281Gln)
n.810A>C
n.613A>C
c.6796A>C (p.Lys2266Gln)
c.6955A>C (p.Lys2319Gln)
c.6940A>C (p.Lys2314Gln)
c.6895A>C (p.Lys2299Gln)
c.6877A>C (p.Lys2293Gln)
c.6874A>C (p.Lys2292Gln)
c.6859A>C (p.Lys2287Gln)
c.6832A>C (p.Lys2278Gln)
c.6817A>C (p.Lys2273Gln)
c.6838A>C (p.Lys2280Gln)
c.6814A>C (p.Lys2272Gln)
9g.128632220A>GCA375098076SPTAN1c.6892A>G (p.Lys2298Glu)
c.6919A>G (p.Lys2307Glu)
c.6943A>G (p.Lys2315Glu)
c.6382A>G (p.Lys2128Glu)
c.4461A>G
c.2798A>G
c.6856A>G (p.Lys2286Glu)
n.580A>G
c.6781A>G (p.Lys2261Glu)
c.6841A>G (p.Lys2281Glu)
n.810A>G
n.613A>G
c.6796A>G (p.Lys2266Glu)
c.6955A>G (p.Lys2319Glu)
c.6940A>G (p.Lys2314Glu)
c.6895A>G (p.Lys2299Glu)
c.6877A>G (p.Lys2293Glu)
c.6874A>G (p.Lys2292Glu)
c.6859A>G (p.Lys2287Glu)
c.6832A>G (p.Lys2278Glu)
c.6817A>G (p.Lys2273Glu)
c.6838A>G (p.Lys2280Glu)
c.6814A>G (p.Lys2272Glu)
 gnomAD v4
9g.128632220A>TCA375098080SPTAN1c.6892A>T (p.Lys2298Ter)
c.6919A>T (p.Lys2307Ter)
c.6943A>T (p.Lys2315Ter)
c.6382A>T (p.Lys2128Ter)
c.4461A>T
c.2798A>T
c.6856A>T (p.Lys2286Ter)
n.580A>T
c.6781A>T (p.Lys2261Ter)
c.6841A>T (p.Lys2281Ter)
n.810A>T
n.613A>T
c.6796A>T (p.Lys2266Ter)
c.6955A>T (p.Lys2319Ter)
c.6940A>T (p.Lys2314Ter)
c.6895A>T (p.Lys2299Ter)
c.6877A>T (p.Lys2293Ter)
c.6874A>T (p.Lys2292Ter)
c.6859A>T (p.Lys2287Ter)
c.6832A>T (p.Lys2278Ter)
c.6817A>T (p.Lys2273Ter)
c.6838A>T (p.Lys2280Ter)
c.6814A>T (p.Lys2272Ter)
9g.128632221A>CCA375098085SPTAN1c.6893A>C (p.Lys2298Thr)
c.6920A>C (p.Lys2307Thr)
c.6944A>C (p.Lys2315Thr)
c.6383A>C (p.Lys2128Thr)
c.4462A>C
c.2799A>C
c.6857A>C (p.Lys2286Thr)
n.581A>C
c.6782A>C (p.Lys2261Thr)
c.6842A>C (p.Lys2281Thr)
n.811A>C
n.614A>C
c.6797A>C (p.Lys2266Thr)
c.6956A>C (p.Lys2319Thr)
c.6941A>C (p.Lys2314Thr)
c.6896A>C (p.Lys2299Thr)
c.6878A>C (p.Lys2293Thr)
c.6875A>C (p.Lys2292Thr)
c.6860A>C (p.Lys2287Thr)
c.6833A>C (p.Lys2278Thr)
c.6818A>C (p.Lys2273Thr)
c.6839A>C (p.Lys2280Thr)
c.6815A>C (p.Lys2272Thr)
9g.128632221A>GCA375098086SPTAN1c.6893A>G (p.Lys2298Arg)
c.6920A>G (p.Lys2307Arg)
c.6944A>G (p.Lys2315Arg)
c.6383A>G (p.Lys2128Arg)
c.4462A>G
c.2799A>G
c.6857A>G (p.Lys2286Arg)
n.581A>G
c.6782A>G (p.Lys2261Arg)
c.6842A>G (p.Lys2281Arg)
n.811A>G
n.614A>G
c.6797A>G (p.Lys2266Arg)
c.6956A>G (p.Lys2319Arg)
c.6941A>G (p.Lys2314Arg)
c.6896A>G (p.Lys2299Arg)
c.6878A>G (p.Lys2293Arg)
c.6875A>G (p.Lys2292Arg)
c.6860A>G (p.Lys2287Arg)
c.6833A>G (p.Lys2278Arg)
c.6818A>G (p.Lys2273Arg)
c.6839A>G (p.Lys2280Arg)
c.6815A>G (p.Lys2272Arg)
 gnomAD v4
9g.128632221A>TCA375098088SPTAN1c.6893A>T (p.Lys2298Met)
c.6920A>T (p.Lys2307Met)
c.6944A>T (p.Lys2315Met)
c.6383A>T (p.Lys2128Met)
c.4462A>T
c.2799A>T
c.6857A>T (p.Lys2286Met)
n.581A>T
c.6782A>T (p.Lys2261Met)
c.6842A>T (p.Lys2281Met)
n.811A>T
n.614A>T
c.6797A>T (p.Lys2266Met)
c.6956A>T (p.Lys2319Met)
c.6941A>T (p.Lys2314Met)
c.6896A>T (p.Lys2299Met)
c.6878A>T (p.Lys2293Met)
c.6875A>T (p.Lys2292Met)
c.6860A>T (p.Lys2287Met)
c.6833A>T (p.Lys2278Met)
c.6818A>T (p.Lys2273Met)
c.6839A>T (p.Lys2280Met)
c.6815A>T (p.Lys2272Met)
9g.128632222G>ACA5265924SPTAN1c.6894G>A (p.Lys2298=)
c.6921G>A (p.Lys2307=)
c.6945G>A (p.Lys2315=)
c.6384G>A (p.Lys2128=)
c.4463G>A
c.2800G>A
c.6858G>A (p.Lys2286=)
n.582G>A
c.6783G>A (p.Lys2261=)
c.6843G>A (p.Lys2281=)
n.812G>A
n.615G>A
c.6798G>A (p.Lys2266=)
c.6957G>A (p.Lys2319=)
c.6942G>A (p.Lys2314=)
c.6897G>A (p.Lys2299=)
c.6879G>A (p.Lys2293=)
c.6876G>A (p.Lys2292=)
c.6861G>A (p.Lys2287=)
c.6834G>A (p.Lys2278=)
c.6819G>A (p.Lys2273=)
c.6840G>A (p.Lys2280=)
c.6816G>A (p.Lys2272=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128632222G>CCA375098100SPTAN1c.6894G>C (p.Lys2298Asn)
c.6921G>C (p.Lys2307Asn)
c.6945G>C (p.Lys2315Asn)
c.6384G>C (p.Lys2128Asn)
c.4463G>C
c.2800G>C
c.6858G>C (p.Lys2286Asn)
n.582G>C
c.6783G>C (p.Lys2261Asn)
c.6843G>C (p.Lys2281Asn)
n.812G>C
n.615G>C
c.6798G>C (p.Lys2266Asn)
c.6957G>C (p.Lys2319Asn)
c.6942G>C (p.Lys2314Asn)
c.6897G>C (p.Lys2299Asn)
c.6879G>C (p.Lys2293Asn)
c.6876G>C (p.Lys2292Asn)
c.6861G>C (p.Lys2287Asn)
c.6834G>C (p.Lys2278Asn)
c.6819G>C (p.Lys2273Asn)
c.6840G>C (p.Lys2280Asn)
c.6816G>C (p.Lys2272Asn)
 gnomAD v4
9g.128632222G=CA1880371251SPTAN1c.6894G= (p.Lys2298=)
c.6921G= (p.Lys2307=)
c.6945G= (p.Lys2315=)
c.6384G= (p.Lys2128=)
c.4463G=
c.2800G=
c.6858G= (p.Lys2286=)
n.582G=
c.6783G= (p.Lys2261=)
c.6843G= (p.Lys2281=)
n.812G=
n.615G=
c.6798G= (p.Lys2266=)
c.6957G= (p.Lys2319=)
c.6942G= (p.Lys2314=)
c.6897G= (p.Lys2299=)
c.6879G= (p.Lys2293=)
c.6876G= (p.Lys2292=)
c.6861G= (p.Lys2287=)
c.6834G= (p.Lys2278=)
c.6819G= (p.Lys2273=)
c.6840G= (p.Lys2280=)
c.6816G= (p.Lys2272=)
9g.128632222G>TCA375098092SPTAN1c.6894G>T (p.Lys2298Asn)
c.6921G>T (p.Lys2307Asn)
c.6945G>T (p.Lys2315Asn)
c.6384G>T (p.Lys2128Asn)
c.4463G>T
c.2800G>T
c.6858G>T (p.Lys2286Asn)
n.582G>T
c.6783G>T (p.Lys2261Asn)
c.6843G>T (p.Lys2281Asn)
n.812G>T
n.615G>T
c.6798G>T (p.Lys2266Asn)
c.6957G>T (p.Lys2319Asn)
c.6942G>T (p.Lys2314Asn)
c.6897G>T (p.Lys2299Asn)
c.6879G>T (p.Lys2293Asn)
c.6876G>T (p.Lys2292Asn)
c.6861G>T (p.Lys2287Asn)
c.6834G>T (p.Lys2278Asn)
c.6819G>T (p.Lys2273Asn)
c.6840G>T (p.Lys2280Asn)
c.6816G>T (p.Lys2272Asn)
9g.128632223T>ACA375098117SPTAN1c.6895T>A (p.Tyr2299Asn)
c.6922T>A (p.Tyr2308Asn)
c.6946T>A (p.Tyr2316Asn)
c.6385T>A (p.Tyr2129Asn)
c.4464T>A
c.2801T>A
c.6859T>A (p.Tyr2287Asn)
n.583T>A
c.6784T>A (p.Tyr2262Asn)
c.6844T>A (p.Tyr2282Asn)
n.813T>A
n.616T>A
c.6799T>A (p.Tyr2267Asn)
c.6958T>A (p.Tyr2320Asn)
c.6943T>A (p.Tyr2315Asn)
c.6898T>A (p.Tyr2300Asn)
c.6880T>A (p.Tyr2294Asn)
c.6877T>A (p.Tyr2293Asn)
c.6862T>A (p.Tyr2288Asn)
c.6835T>A (p.Tyr2279Asn)
c.6820T>A (p.Tyr2274Asn)
c.6841T>A (p.Tyr2281Asn)
c.6817T>A (p.Tyr2273Asn)
9g.128632223T>CCA375098106SPTAN1c.6895T>C (p.Tyr2299His)
c.6922T>C (p.Tyr2308His)
c.6946T>C (p.Tyr2316His)
c.6385T>C (p.Tyr2129His)
c.4464T>C
c.2801T>C
c.6859T>C (p.Tyr2287His)
n.583T>C
c.6784T>C (p.Tyr2262His)
c.6844T>C (p.Tyr2282His)
n.813T>C
n.616T>C
c.6799T>C (p.Tyr2267His)
c.6958T>C (p.Tyr2320His)
c.6943T>C (p.Tyr2315His)
c.6898T>C (p.Tyr2300His)
c.6880T>C (p.Tyr2294His)
c.6877T>C (p.Tyr2293His)
c.6862T>C (p.Tyr2288His)
c.6835T>C (p.Tyr2279His)
c.6820T>C (p.Tyr2274His)
c.6841T>C (p.Tyr2281His)
c.6817T>C (p.Tyr2273His)
 gnomAD v4
9g.128632223T>GCA375098110SPTAN1c.6895T>G (p.Tyr2299Asp)
c.6922T>G (p.Tyr2308Asp)
c.6946T>G (p.Tyr2316Asp)
c.6385T>G (p.Tyr2129Asp)
c.4464T>G
c.2801T>G
c.6859T>G (p.Tyr2287Asp)
n.583T>G
c.6784T>G (p.Tyr2262Asp)
c.6844T>G (p.Tyr2282Asp)
n.813T>G
n.616T>G
c.6799T>G (p.Tyr2267Asp)
c.6958T>G (p.Tyr2320Asp)
c.6943T>G (p.Tyr2315Asp)
c.6898T>G (p.Tyr2300Asp)
c.6880T>G (p.Tyr2294Asp)
c.6877T>G (p.Tyr2293Asp)
c.6862T>G (p.Tyr2288Asp)
c.6835T>G (p.Tyr2279Asp)
c.6820T>G (p.Tyr2274Asp)
c.6841T>G (p.Tyr2281Asp)
c.6817T>G (p.Tyr2273Asp)
9g.128632224A>CCA375098121SPTAN1c.6896A>C (p.Tyr2299Ser)
c.6923A>C (p.Tyr2308Ser)
c.6947A>C (p.Tyr2316Ser)
c.6386A>C (p.Tyr2129Ser)
c.4465A>C
c.2802A>C
c.6860A>C (p.Tyr2287Ser)
n.584A>C
c.6785A>C (p.Tyr2262Ser)
c.6845A>C (p.Tyr2282Ser)
n.814A>C
n.617A>C
c.6800A>C (p.Tyr2267Ser)
c.6959A>C (p.Tyr2320Ser)
c.6944A>C (p.Tyr2315Ser)
c.6899A>C (p.Tyr2300Ser)
c.6881A>C (p.Tyr2294Ser)
c.6878A>C (p.Tyr2293Ser)
c.6863A>C (p.Tyr2288Ser)
c.6836A>C (p.Tyr2279Ser)
c.6821A>C (p.Tyr2274Ser)
c.6842A>C (p.Tyr2281Ser)
c.6818A>C (p.Tyr2273Ser)
 gnomAD v4
9g.128632224A>GCA375098130SPTAN1c.6896A>G (p.Tyr2299Cys)
c.6923A>G (p.Tyr2308Cys)
c.6947A>G (p.Tyr2316Cys)
c.6386A>G (p.Tyr2129Cys)
c.4465A>G
c.2802A>G
c.6860A>G (p.Tyr2287Cys)
n.584A>G
c.6785A>G (p.Tyr2262Cys)
c.6845A>G (p.Tyr2282Cys)
n.814A>G
n.617A>G
c.6800A>G (p.Tyr2267Cys)
c.6959A>G (p.Tyr2320Cys)
c.6944A>G (p.Tyr2315Cys)
c.6899A>G (p.Tyr2300Cys)
c.6881A>G (p.Tyr2294Cys)
c.6878A>G (p.Tyr2293Cys)
c.6863A>G (p.Tyr2288Cys)
c.6836A>G (p.Tyr2279Cys)
c.6821A>G (p.Tyr2274Cys)
c.6842A>G (p.Tyr2281Cys)
c.6818A>G (p.Tyr2273Cys)
 gnomAD v4
9g.128632224A>TCA375098134SPTAN1c.6896A>T (p.Tyr2299Phe)
c.6923A>T (p.Tyr2308Phe)
c.6947A>T (p.Tyr2316Phe)
c.6386A>T (p.Tyr2129Phe)
c.4465A>T
c.2802A>T
c.6860A>T (p.Tyr2287Phe)
n.584A>T
c.6785A>T (p.Tyr2262Phe)
c.6845A>T (p.Tyr2282Phe)
n.814A>T
n.617A>T
c.6800A>T (p.Tyr2267Phe)
c.6959A>T (p.Tyr2320Phe)
c.6944A>T (p.Tyr2315Phe)
c.6899A>T (p.Tyr2300Phe)
c.6881A>T (p.Tyr2294Phe)
c.6878A>T (p.Tyr2293Phe)
c.6863A>T (p.Tyr2288Phe)
c.6836A>T (p.Tyr2279Phe)
c.6821A>T (p.Tyr2274Phe)
c.6842A>T (p.Tyr2281Phe)
c.6818A>T (p.Tyr2273Phe)
9g.128632225C>ACA375098149SPTAN1c.6897C>A (p.Tyr2299Ter)
c.6924C>A (p.Tyr2308Ter)
c.6948C>A (p.Tyr2316Ter)
c.6387C>A (p.Tyr2129Ter)
c.4466C>A
c.2803C>A
c.6861C>A (p.Tyr2287Ter)
n.585C>A
c.6786C>A (p.Tyr2262Ter)
c.6846C>A (p.Tyr2282Ter)
n.815C>A
n.618C>A
c.6801C>A (p.Tyr2267Ter)
c.6960C>A (p.Tyr2320Ter)
c.6945C>A (p.Tyr2315Ter)
c.6900C>A (p.Tyr2300Ter)
c.6882C>A (p.Tyr2294Ter)
c.6879C>A (p.Tyr2293Ter)
c.6864C>A (p.Tyr2288Ter)
c.6837C>A (p.Tyr2279Ter)
c.6822C>A (p.Tyr2274Ter)
c.6843C>A (p.Tyr2281Ter)
c.6819C>A (p.Tyr2273Ter)
9g.128632225C>GCA375098155SPTAN1c.6897C>G (p.Tyr2299Ter)
c.6924C>G (p.Tyr2308Ter)
c.6948C>G (p.Tyr2316Ter)
c.6387C>G (p.Tyr2129Ter)
c.4466C>G
c.2803C>G
c.6861C>G (p.Tyr2287Ter)
n.585C>G
c.6786C>G (p.Tyr2262Ter)
c.6846C>G (p.Tyr2282Ter)
n.815C>G
n.618C>G
c.6801C>G (p.Tyr2267Ter)
c.6960C>G (p.Tyr2320Ter)
c.6945C>G (p.Tyr2315Ter)
c.6900C>G (p.Tyr2300Ter)
c.6882C>G (p.Tyr2294Ter)
c.6879C>G (p.Tyr2293Ter)
c.6864C>G (p.Tyr2288Ter)
c.6837C>G (p.Tyr2279Ter)
c.6822C>G (p.Tyr2274Ter)
c.6843C>G (p.Tyr2281Ter)
c.6819C>G (p.Tyr2273Ter)
9g.128632225C>TCA467304831SPTAN1c.6897C>T (p.Tyr2299=)
c.6924C>T (p.Tyr2308=)
c.6948C>T (p.Tyr2316=)
c.6387C>T (p.Tyr2129=)
c.4466C>T
c.2803C>T
c.6861C>T (p.Tyr2287=)
n.585C>T
c.6786C>T (p.Tyr2262=)
c.6846C>T (p.Tyr2282=)
n.815C>T
n.618C>T
c.6801C>T (p.Tyr2267=)
c.6960C>T (p.Tyr2320=)
c.6945C>T (p.Tyr2315=)
c.6900C>T (p.Tyr2300=)
c.6882C>T (p.Tyr2294=)
c.6879C>T (p.Tyr2293=)
c.6864C>T (p.Tyr2288=)
c.6837C>T (p.Tyr2279=)
c.6822C>T (p.Tyr2274=)
c.6843C>T (p.Tyr2281=)
c.6819C>T (p.Tyr2273=)
9g.128632226A>CCA375098161SPTAN1c.6898A>C (p.Thr2300Pro)
c.6925A>C (p.Thr2309Pro)
c.6949A>C (p.Thr2317Pro)
c.6388A>C (p.Thr2130Pro)
c.4467A>C
c.2804A>C
c.6862A>C (p.Thr2288Pro)
n.586A>C
c.6787A>C (p.Thr2263Pro)
c.6847A>C (p.Thr2283Pro)
n.816A>C
n.619A>C
c.6802A>C (p.Thr2268Pro)
c.6961A>C (p.Thr2321Pro)
c.6946A>C (p.Thr2316Pro)
c.6901A>C (p.Thr2301Pro)
c.6883A>C (p.Thr2295Pro)
c.6880A>C (p.Thr2294Pro)
c.6865A>C (p.Thr2289Pro)
c.6838A>C (p.Thr2280Pro)
c.6823A>C (p.Thr2275Pro)
c.6844A>C (p.Thr2282Pro)
c.6820A>C (p.Thr2274Pro)
9g.128632226A>GCA375098174SPTAN1c.6898A>G (p.Thr2300Ala)
c.6925A>G (p.Thr2309Ala)
c.6949A>G (p.Thr2317Ala)
c.6388A>G (p.Thr2130Ala)
c.4467A>G
c.2804A>G
c.6862A>G (p.Thr2288Ala)
n.586A>G
c.6787A>G (p.Thr2263Ala)
c.6847A>G (p.Thr2283Ala)
n.816A>G
n.619A>G
c.6802A>G (p.Thr2268Ala)
c.6961A>G (p.Thr2321Ala)
c.6946A>G (p.Thr2316Ala)
c.6901A>G (p.Thr2301Ala)
c.6883A>G (p.Thr2295Ala)
c.6880A>G (p.Thr2294Ala)
c.6865A>G (p.Thr2289Ala)
c.6838A>G (p.Thr2280Ala)
c.6823A>G (p.Thr2275Ala)
c.6844A>G (p.Thr2282Ala)
c.6820A>G (p.Thr2274Ala)
9g.128632226A>TCA375098166SPTAN1c.6898A>T (p.Thr2300Ser)
c.6925A>T (p.Thr2309Ser)
c.6949A>T (p.Thr2317Ser)
c.6388A>T (p.Thr2130Ser)
c.4467A>T
c.2804A>T
c.6862A>T (p.Thr2288Ser)
n.586A>T
c.6787A>T (p.Thr2263Ser)
c.6847A>T (p.Thr2283Ser)
n.816A>T
n.619A>T
c.6802A>T (p.Thr2268Ser)
c.6961A>T (p.Thr2321Ser)
c.6946A>T (p.Thr2316Ser)
c.6901A>T (p.Thr2301Ser)
c.6883A>T (p.Thr2295Ser)
c.6880A>T (p.Thr2294Ser)
c.6865A>T (p.Thr2289Ser)
c.6838A>T (p.Thr2280Ser)
c.6823A>T (p.Thr2275Ser)
c.6844A>T (p.Thr2282Ser)
c.6820A>T (p.Thr2274Ser)
9g.128632227C>ACA375098178SPTAN1c.6899C>A (p.Thr2300Lys)
c.6926C>A (p.Thr2309Lys)
c.6950C>A (p.Thr2317Lys)
c.6389C>A (p.Thr2130Lys)
c.4468C>A
c.2805C>A
c.6863C>A (p.Thr2288Lys)
n.587C>A
c.6788C>A (p.Thr2263Lys)
c.6848C>A (p.Thr2283Lys)
n.817C>A
n.620C>A
c.6803C>A (p.Thr2268Lys)
c.6962C>A (p.Thr2321Lys)
c.6947C>A (p.Thr2316Lys)
c.6902C>A (p.Thr2301Lys)
c.6884C>A (p.Thr2295Lys)
c.6881C>A (p.Thr2294Lys)
c.6866C>A (p.Thr2289Lys)
c.6839C>A (p.Thr2280Lys)
c.6824C>A (p.Thr2275Lys)
c.6845C>A (p.Thr2282Lys)
c.6821C>A (p.Thr2274Lys)
9g.128632227C>GCA375098179SPTAN1c.6899C>G (p.Thr2300Arg)
c.6926C>G (p.Thr2309Arg)
c.6950C>G (p.Thr2317Arg)
c.6389C>G (p.Thr2130Arg)
c.4468C>G
c.2805C>G
c.6863C>G (p.Thr2288Arg)
n.587C>G
c.6788C>G (p.Thr2263Arg)
c.6848C>G (p.Thr2283Arg)
n.817C>G
n.620C>G
c.6803C>G (p.Thr2268Arg)
c.6962C>G (p.Thr2321Arg)
c.6947C>G (p.Thr2316Arg)
c.6902C>G (p.Thr2301Arg)
c.6884C>G (p.Thr2295Arg)
c.6881C>G (p.Thr2294Arg)
c.6866C>G (p.Thr2289Arg)
c.6839C>G (p.Thr2280Arg)
c.6824C>G (p.Thr2275Arg)
c.6845C>G (p.Thr2282Arg)
c.6821C>G (p.Thr2274Arg)
9g.128632227C>TCA375098180SPTAN1c.6899C>T (p.Thr2300Met)
c.6926C>T (p.Thr2309Met)
c.6950C>T (p.Thr2317Met)
c.6389C>T (p.Thr2130Met)
c.4468C>T
c.2805C>T
c.6863C>T (p.Thr2288Met)
n.587C>T
c.6788C>T (p.Thr2263Met)
c.6848C>T (p.Thr2283Met)
n.817C>T
n.620C>T
c.6803C>T (p.Thr2268Met)
c.6962C>T (p.Thr2321Met)
c.6947C>T (p.Thr2316Met)
c.6902C>T (p.Thr2301Met)
c.6884C>T (p.Thr2295Met)
c.6881C>T (p.Thr2294Met)
c.6866C>T (p.Thr2289Met)
c.6839C>T (p.Thr2280Met)
c.6824C>T (p.Thr2275Met)
c.6845C>T (p.Thr2282Met)
c.6821C>T (p.Thr2274Met)
 ClinVar dbSNP
9g.128632228G>ACA5265925SPTAN1c.6900G>A (p.Thr2300=)
c.6927G>A (p.Thr2309=)
c.6951G>A (p.Thr2317=)
c.6390G>A (p.Thr2130=)
c.4469G>A
c.2806G>A
c.6864G>A (p.Thr2288=)
n.588G>A
c.6789G>A (p.Thr2263=)
c.6849G>A (p.Thr2283=)
n.818G>A
n.621G>A
c.6804G>A (p.Thr2268=)
c.6963G>A (p.Thr2321=)
c.6948G>A (p.Thr2316=)
c.6903G>A (p.Thr2301=)
c.6885G>A (p.Thr2295=)
c.6882G>A (p.Thr2294=)
c.6867G>A (p.Thr2289=)
c.6840G>A (p.Thr2280=)
c.6825G>A (p.Thr2275=)
c.6846G>A (p.Thr2282=)
c.6822G>A (p.Thr2274=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.128632228G>CCA467304832SPTAN1c.6900G>C (p.Thr2300=)
c.6927G>C (p.Thr2309=)
c.6951G>C (p.Thr2317=)
c.6390G>C (p.Thr2130=)
c.4469G>C
c.2806G>C
c.6864G>C (p.Thr2288=)
n.588G>C
c.6789G>C (p.Thr2263=)
c.6849G>C (p.Thr2283=)
n.818G>C
n.621G>C
c.6804G>C (p.Thr2268=)
c.6963G>C (p.Thr2321=)
c.6948G>C (p.Thr2316=)
c.6903G>C (p.Thr2301=)
c.6885G>C (p.Thr2295=)
c.6882G>C (p.Thr2294=)
c.6867G>C (p.Thr2289=)
c.6840G>C (p.Thr2280=)
c.6825G>C (p.Thr2275=)
c.6846G>C (p.Thr2282=)
c.6822G>C (p.Thr2274=)
9g.128632228G=CA1880371252SPTAN1c.6900G= (p.Thr2300=)
c.6927G= (p.Thr2309=)
c.6951G= (p.Thr2317=)
c.6390G= (p.Thr2130=)
c.4469G=
c.2806G=
c.6864G= (p.Thr2288=)
n.588G=
c.6789G= (p.Thr2263=)
c.6849G= (p.Thr2283=)
n.818G=
n.621G=
c.6804G= (p.Thr2268=)
c.6963G= (p.Thr2321=)
c.6948G= (p.Thr2316=)
c.6903G= (p.Thr2301=)
c.6885G= (p.Thr2295=)
c.6882G= (p.Thr2294=)
c.6867G= (p.Thr2289=)
c.6840G= (p.Thr2280=)
c.6825G= (p.Thr2275=)
c.6846G= (p.Thr2282=)
c.6822G= (p.Thr2274=)
9g.128632228G>TCA467304833SPTAN1c.6900G>T (p.Thr2300=)
c.6927G>T (p.Thr2309=)
c.6951G>T (p.Thr2317=)
c.6390G>T (p.Thr2130=)
c.4469G>T
c.2806G>T
c.6864G>T (p.Thr2288=)
n.588G>T
c.6789G>T (p.Thr2263=)
c.6849G>T (p.Thr2283=)
n.818G>T
n.621G>T
c.6804G>T (p.Thr2268=)
c.6963G>T (p.Thr2321=)
c.6948G>T (p.Thr2316=)
c.6903G>T (p.Thr2301=)
c.6885G>T (p.Thr2295=)
c.6882G>T (p.Thr2294=)
c.6867G>T (p.Thr2289=)
c.6840G>T (p.Thr2280=)
c.6825G>T (p.Thr2275=)
c.6846G>T (p.Thr2282=)
c.6822G>T (p.Thr2274=)
 dbSNP
9g.128632229G>ACA375098185SPTAN1c.6901G>A (p.Glu2301Lys)
c.6928G>A (p.Glu2310Lys)
c.6952G>A (p.Glu2318Lys)
c.6391G>A (p.Glu2131Lys)
c.4470G>A
c.2807G>A
c.6865G>A (p.Glu2289Lys)
n.589G>A
c.6790G>A (p.Glu2264Lys)
c.6850G>A (p.Glu2284Lys)
n.819G>A
n.622G>A
c.6805G>A (p.Glu2269Lys)
c.6964G>A (p.Glu2322Lys)
c.6949G>A (p.Glu2317Lys)
c.6904G>A (p.Glu2302Lys)
c.6886G>A (p.Glu2296Lys)
c.6883G>A (p.Glu2295Lys)
c.6868G>A (p.Glu2290Lys)
c.6841G>A (p.Glu2281Lys)
c.6826G>A (p.Glu2276Lys)
c.6847G>A (p.Glu2283Lys)
c.6823G>A (p.Glu2275Lys)
 COSMIC
9g.128632229G>CCA375098213SPTAN1c.6901G>C (p.Glu2301Gln)
c.6928G>C (p.Glu2310Gln)
c.6952G>C (p.Glu2318Gln)
c.6391G>C (p.Glu2131Gln)
c.4470G>C
c.2807G>C
c.6865G>C (p.Glu2289Gln)
n.589G>C
c.6790G>C (p.Glu2264Gln)
c.6850G>C (p.Glu2284Gln)
n.819G>C
n.622G>C
c.6805G>C (p.Glu2269Gln)
c.6964G>C (p.Glu2322Gln)
c.6949G>C (p.Glu2317Gln)
c.6904G>C (p.Glu2302Gln)
c.6886G>C (p.Glu2296Gln)
c.6883G>C (p.Glu2295Gln)
c.6868G>C (p.Glu2290Gln)
c.6841G>C (p.Glu2281Gln)
c.6826G>C (p.Glu2276Gln)
c.6847G>C (p.Glu2283Gln)
c.6823G>C (p.Glu2275Gln)
9g.128632229G>TCA375098208SPTAN1c.6901G>T (p.Glu2301Ter)
c.6928G>T (p.Glu2310Ter)
c.6952G>T (p.Glu2318Ter)
c.6391G>T (p.Glu2131Ter)
c.4470G>T
c.2807G>T
c.6865G>T (p.Glu2289Ter)
n.589G>T
c.6790G>T (p.Glu2264Ter)
c.6850G>T (p.Glu2284Ter)
n.819G>T
n.622G>T
c.6805G>T (p.Glu2269Ter)
c.6964G>T (p.Glu2322Ter)
c.6949G>T (p.Glu2317Ter)
c.6904G>T (p.Glu2302Ter)
c.6886G>T (p.Glu2296Ter)
c.6883G>T (p.Glu2295Ter)
c.6868G>T (p.Glu2290Ter)
c.6841G>T (p.Glu2281Ter)
c.6826G>T (p.Glu2276Ter)
c.6847G>T (p.Glu2283Ter)
c.6823G>T (p.Glu2275Ter)
9g.128632230A>CCA375098217SPTAN1c.6902A>C (p.Glu2301Ala)
c.6929A>C (p.Glu2310Ala)
c.6953A>C (p.Glu2318Ala)
c.6392A>C (p.Glu2131Ala)
c.4471A>C
c.2808A>C
c.6866A>C (p.Glu2289Ala)
n.590A>C
c.6791A>C (p.Glu2264Ala)
c.6851A>C (p.Glu2284Ala)
n.820A>C
n.623A>C
c.6806A>C (p.Glu2269Ala)
c.6965A>C (p.Glu2322Ala)
c.6950A>C (p.Glu2317Ala)
c.6905A>C (p.Glu2302Ala)
c.6887A>C (p.Glu2296Ala)
c.6884A>C (p.Glu2295Ala)
c.6869A>C (p.Glu2290Ala)
c.6842A>C (p.Glu2281Ala)
c.6827A>C (p.Glu2276Ala)
c.6848A>C (p.Glu2283Ala)
c.6824A>C (p.Glu2275Ala)
9g.128632230A>GCA375098218SPTAN1c.6902A>G (p.Glu2301Gly)
c.6929A>G (p.Glu2310Gly)
c.6953A>G (p.Glu2318Gly)
c.6392A>G (p.Glu2131Gly)
c.4471A>G
c.2808A>G
c.6866A>G (p.Glu2289Gly)
n.590A>G
c.6791A>G (p.Glu2264Gly)
c.6851A>G (p.Glu2284Gly)
n.820A>G
n.623A>G
c.6806A>G (p.Glu2269Gly)
c.6965A>G (p.Glu2322Gly)
c.6950A>G (p.Glu2317Gly)
c.6905A>G (p.Glu2302Gly)
c.6887A>G (p.Glu2296Gly)
c.6884A>G (p.Glu2295Gly)
c.6869A>G (p.Glu2290Gly)
c.6842A>G (p.Glu2281Gly)
c.6827A>G (p.Glu2276Gly)
c.6848A>G (p.Glu2283Gly)
c.6824A>G (p.Glu2275Gly)
9g.128632230A>TCA375098219SPTAN1c.6902A>T (p.Glu2301Val)
c.6929A>T (p.Glu2310Val)
c.6953A>T (p.Glu2318Val)
c.6392A>T (p.Glu2131Val)
c.4471A>T
c.2808A>T
c.6866A>T (p.Glu2289Val)
n.590A>T
c.6791A>T (p.Glu2264Val)
c.6851A>T (p.Glu2284Val)
n.820A>T
n.623A>T
c.6806A>T (p.Glu2269Val)
c.6965A>T (p.Glu2322Val)
c.6950A>T (p.Glu2317Val)
c.6905A>T (p.Glu2302Val)
c.6887A>T (p.Glu2296Val)
c.6884A>T (p.Glu2295Val)
c.6869A>T (p.Glu2290Val)
c.6842A>T (p.Glu2281Val)
c.6827A>T (p.Glu2276Val)
c.6848A>T (p.Glu2283Val)
c.6824A>T (p.Glu2275Val)
9g.128632231G>ACA200412390SPTAN1c.6903G>A (p.Glu2301=)
c.6930G>A (p.Glu2310=)
c.6954G>A (p.Glu2318=)
c.6393G>A (p.Glu2131=)
c.4472G>A
c.2809G>A
c.6867G>A (p.Glu2289=)
n.591G>A
c.6792G>A (p.Glu2264=)
c.6852G>A (p.Glu2284=)
n.821G>A
n.624G>A
c.6807G>A (p.Glu2269=)
c.6966G>A (p.Glu2322=)
c.6951G>A (p.Glu2317=)
c.6906G>A (p.Glu2302=)
c.6888G>A (p.Glu2296=)
c.6885G>A (p.Glu2295=)
c.6870G>A (p.Glu2290=)
c.6843G>A (p.Glu2281=)
c.6828G>A (p.Glu2276=)
c.6849G>A (p.Glu2283=)
c.6825G>A (p.Glu2275=)
 ClinVar dbSNP gnomAD v4
9g.128632231G>CCA375098226SPTAN1c.6903G>C (p.Glu2301Asp)
c.6930G>C (p.Glu2310Asp)
c.6954G>C (p.Glu2318Asp)
c.6393G>C (p.Glu2131Asp)
c.4472G>C
c.2809G>C
c.6867G>C (p.Glu2289Asp)
n.591G>C
c.6792G>C (p.Glu2264Asp)
c.6852G>C (p.Glu2284Asp)
n.821G>C
n.624G>C
c.6807G>C (p.Glu2269Asp)
c.6966G>C (p.Glu2322Asp)
c.6951G>C (p.Glu2317Asp)
c.6906G>C (p.Glu2302Asp)
c.6888G>C (p.Glu2296Asp)
c.6885G>C (p.Glu2295Asp)
c.6870G>C (p.Glu2290Asp)
c.6843G>C (p.Glu2281Asp)
c.6828G>C (p.Glu2276Asp)
c.6849G>C (p.Glu2283Asp)
c.6825G>C (p.Glu2275Asp)
9g.128632231G=CA1880371253SPTAN1c.6903G= (p.Glu2301=)
c.6930G= (p.Glu2310=)
c.6954G= (p.Glu2318=)
c.6393G= (p.Glu2131=)
c.4472G=
c.2809G=
c.6867G= (p.Glu2289=)
n.591G=
c.6792G= (p.Glu2264=)
c.6852G= (p.Glu2284=)
n.821G=
n.624G=
c.6807G= (p.Glu2269=)
c.6966G= (p.Glu2322=)
c.6951G= (p.Glu2317=)
c.6906G= (p.Glu2302=)
c.6888G= (p.Glu2296=)
c.6885G= (p.Glu2295=)
c.6870G= (p.Glu2290=)
c.6843G= (p.Glu2281=)
c.6828G= (p.Glu2276=)
c.6849G= (p.Glu2283=)
c.6825G= (p.Glu2275=)
9g.128632231G>TCA375098231SPTAN1c.6903G>T (p.Glu2301Asp)
c.6930G>T (p.Glu2310Asp)
c.6954G>T (p.Glu2318Asp)
c.6393G>T (p.Glu2131Asp)
c.4472G>T
c.2809G>T
c.6867G>T (p.Glu2289Asp)
n.591G>T
c.6792G>T (p.Glu2264Asp)
c.6852G>T (p.Glu2284Asp)
n.821G>T
n.624G>T
c.6807G>T (p.Glu2269Asp)
c.6966G>T (p.Glu2322Asp)
c.6951G>T (p.Glu2317Asp)
c.6906G>T (p.Glu2302Asp)
c.6888G>T (p.Glu2296Asp)
c.6885G>T (p.Glu2295Asp)
c.6870G>T (p.Glu2290Asp)
c.6843G>T (p.Glu2281Asp)
c.6828G>T (p.Glu2276Asp)
c.6849G>T (p.Glu2283Asp)
c.6825G>T (p.Glu2275Asp)
9g.128632232C>ACA375098251SPTAN1c.6904C>A (p.His2302Asn)
c.6931C>A (p.His2311Asn)
c.6955C>A (p.His2319Asn)
c.6394C>A (p.His2132Asn)
c.4473C>A
c.2810C>A
c.6868C>A (p.His2290Asn)
n.592C>A
c.6793C>A (p.His2265Asn)
c.6853C>A (p.His2285Asn)
n.822C>A
n.625C>A
c.6808C>A (p.His2270Asn)
c.6967C>A (p.His2323Asn)
c.6952C>A (p.His2318Asn)
c.6907C>A (p.His2303Asn)
c.6889C>A (p.His2297Asn)
c.6886C>A (p.His2296Asn)
c.6871C>A (p.His2291Asn)
c.6844C>A (p.His2282Asn)
c.6829C>A (p.His2277Asn)
c.6850C>A (p.His2284Asn)
c.6826C>A (p.His2276Asn)
9g.128632232C>GCA375098257SPTAN1c.6904C>G (p.His2302Asp)
c.6931C>G (p.His2311Asp)
c.6955C>G (p.His2319Asp)
c.6394C>G (p.His2132Asp)
c.4473C>G
c.2810C>G
c.6868C>G (p.His2290Asp)
n.592C>G
c.6793C>G (p.His2265Asp)
c.6853C>G (p.His2285Asp)
n.822C>G
n.625C>G
c.6808C>G (p.His2270Asp)
c.6967C>G (p.His2323Asp)
c.6952C>G (p.His2318Asp)
c.6907C>G (p.His2303Asp)
c.6889C>G (p.His2297Asp)
c.6886C>G (p.His2296Asp)
c.6871C>G (p.His2291Asp)
c.6844C>G (p.His2282Asp)
c.6829C>G (p.His2277Asp)
c.6850C>G (p.His2284Asp)
c.6826C>G (p.His2276Asp)
9g.128632232C>TCA375098261SPTAN1c.6904C>T (p.His2302Tyr)
c.6931C>T (p.His2311Tyr)
c.6955C>T (p.His2319Tyr)
c.6394C>T (p.His2132Tyr)
c.4473C>T
c.2810C>T
c.6868C>T (p.His2290Tyr)
n.592C>T
c.6793C>T (p.His2265Tyr)
c.6853C>T (p.His2285Tyr)
n.822C>T
n.625C>T
c.6808C>T (p.His2270Tyr)
c.6967C>T (p.His2323Tyr)
c.6952C>T (p.His2318Tyr)
c.6907C>T (p.His2303Tyr)
c.6889C>T (p.His2297Tyr)
c.6886C>T (p.His2296Tyr)
c.6871C>T (p.His2291Tyr)
c.6844C>T (p.His2282Tyr)
c.6829C>T (p.His2277Tyr)
c.6850C>T (p.His2284Tyr)
c.6826C>T (p.His2276Tyr)
 gnomAD v4 COSMIC COSMIC
9g.128632233A>CCA375098262SPTAN1c.6905A>C (p.His2302Pro)
c.6932A>C (p.His2311Pro)
c.6956A>C (p.His2319Pro)
c.6395A>C (p.His2132Pro)
c.4474A>C
c.2811A>C
c.6869A>C (p.His2290Pro)
n.593A>C
c.6794A>C (p.His2265Pro)
c.6854A>C (p.His2285Pro)
n.823A>C
n.626A>C
c.6809A>C (p.His2270Pro)
c.6968A>C (p.His2323Pro)
c.6953A>C (p.His2318Pro)
c.6908A>C (p.His2303Pro)
c.6890A>C (p.His2297Pro)
c.6887A>C (p.His2296Pro)
c.6872A>C (p.His2291Pro)
c.6845A>C (p.His2282Pro)
c.6830A>C (p.His2277Pro)
c.6851A>C (p.His2284Pro)
c.6827A>C (p.His2276Pro)
9g.128632233A>GCA375098263SPTAN1c.6905A>G (p.His2302Arg)
c.6932A>G (p.His2311Arg)
c.6956A>G (p.His2319Arg)
c.6395A>G (p.His2132Arg)
c.4474A>G
c.2811A>G
c.6869A>G (p.His2290Arg)
n.593A>G
c.6794A>G (p.His2265Arg)
c.6854A>G (p.His2285Arg)
n.823A>G
n.626A>G
c.6809A>G (p.His2270Arg)
c.6968A>G (p.His2323Arg)
c.6953A>G (p.His2318Arg)
c.6908A>G (p.His2303Arg)
c.6890A>G (p.His2297Arg)
c.6887A>G (p.His2296Arg)
c.6872A>G (p.His2291Arg)
c.6845A>G (p.His2282Arg)
c.6830A>G (p.His2277Arg)
c.6851A>G (p.His2284Arg)
c.6827A>G (p.His2276Arg)
 ClinVar dbSNP
9g.128632233A>TCA375098266SPTAN1c.6905A>T (p.His2302Leu)
c.6932A>T (p.His2311Leu)
c.6956A>T (p.His2319Leu)
c.6395A>T (p.His2132Leu)
c.4474A>T
c.2811A>T
c.6869A>T (p.His2290Leu)
n.593A>T
c.6794A>T (p.His2265Leu)
c.6854A>T (p.His2285Leu)
n.823A>T
n.626A>T
c.6809A>T (p.His2270Leu)
c.6968A>T (p.His2323Leu)
c.6953A>T (p.His2318Leu)
c.6908A>T (p.His2303Leu)
c.6890A>T (p.His2297Leu)
c.6887A>T (p.His2296Leu)
c.6872A>T (p.His2291Leu)
c.6845A>T (p.His2282Leu)
c.6830A>T (p.His2277Leu)
c.6851A>T (p.His2284Leu)
c.6827A>T (p.His2276Leu)
9g.128632234C>ACA375098277SPTAN1c.6906C>A (p.His2302Gln)
c.6933C>A (p.His2311Gln)
c.6957C>A (p.His2319Gln)
c.6396C>A (p.His2132Gln)
c.4475C>A
c.2812C>A
c.6870C>A (p.His2290Gln)
n.594C>A
c.6795C>A (p.His2265Gln)
c.6855C>A (p.His2285Gln)
n.824C>A
n.627C>A
c.6810C>A (p.His2270Gln)
c.6969C>A (p.His2323Gln)
c.6954C>A (p.His2318Gln)
c.6909C>A (p.His2303Gln)
c.6891C>A (p.His2297Gln)
c.6888C>A (p.His2296Gln)
c.6873C>A (p.His2291Gln)
c.6846C>A (p.His2282Gln)
c.6831C>A (p.His2277Gln)
c.6852C>A (p.His2284Gln)
c.6828C>A (p.His2276Gln)
9g.128632234C>GCA375098271SPTAN1c.6906C>G (p.His2302Gln)
c.6933C>G (p.His2311Gln)
c.6957C>G (p.His2319Gln)
c.6396C>G (p.His2132Gln)
c.4475C>G
c.2812C>G
c.6870C>G (p.His2290Gln)
n.594C>G
c.6795C>G (p.His2265Gln)
c.6855C>G (p.His2285Gln)
n.824C>G
n.627C>G
c.6810C>G (p.His2270Gln)
c.6969C>G (p.His2323Gln)
c.6954C>G (p.His2318Gln)
c.6909C>G (p.His2303Gln)
c.6891C>G (p.His2297Gln)
c.6888C>G (p.His2296Gln)
c.6873C>G (p.His2291Gln)
c.6846C>G (p.His2282Gln)
c.6831C>G (p.His2277Gln)
c.6852C>G (p.His2284Gln)
c.6828C>G (p.His2276Gln)
 gnomAD v4
9g.128632234C>TCA467304834SPTAN1c.6906C>T (p.His2302=)
c.6933C>T (p.His2311=)
c.6957C>T (p.His2319=)
c.6396C>T (p.His2132=)
c.4475C>T
c.2812C>T
c.6870C>T (p.His2290=)
n.594C>T
c.6795C>T (p.His2265=)
c.6855C>T (p.His2285=)
n.824C>T
n.627C>T
c.6810C>T (p.His2270=)
c.6969C>T (p.His2323=)
c.6954C>T (p.His2318=)
c.6909C>T (p.His2303=)
c.6891C>T (p.His2297=)
c.6888C>T (p.His2296=)
c.6873C>T (p.His2291=)
c.6846C>T (p.His2282=)
c.6831C>T (p.His2277=)
c.6852C>T (p.His2284=)
c.6828C>T (p.His2276=)
9g.128632235A>CCA375098287SPTAN1c.6907A>C (p.Ser2303Arg)
c.6934A>C (p.Ser2312Arg)
c.6958A>C (p.Ser2320Arg)
c.6397A>C (p.Ser2133Arg)
c.4476A>C
c.2813A>C
c.6871A>C (p.Ser2291Arg)
n.595A>C
c.6796A>C (p.Ser2266Arg)
c.6856A>C (p.Ser2286Arg)
n.825A>C
n.628A>C
c.6811A>C (p.Ser2271Arg)
c.6970A>C (p.Ser2324Arg)
c.6955A>C (p.Ser2319Arg)
c.6910A>C (p.Ser2304Arg)
c.6892A>C (p.Ser2298Arg)
c.6889A>C (p.Ser2297Arg)
c.6874A>C (p.Ser2292Arg)
c.6847A>C (p.Ser2283Arg)
c.6832A>C (p.Ser2278Arg)
c.6853A>C (p.Ser2285Arg)
c.6829A>C (p.Ser2277Arg)
9g.128632235A>GCA375098289SPTAN1c.6907A>G (p.Ser2303Gly)
c.6934A>G (p.Ser2312Gly)
c.6958A>G (p.Ser2320Gly)
c.6397A>G (p.Ser2133Gly)
c.4476A>G
c.2813A>G
c.6871A>G (p.Ser2291Gly)
n.595A>G
c.6796A>G (p.Ser2266Gly)
c.6856A>G (p.Ser2286Gly)
n.825A>G
n.628A>G
c.6811A>G (p.Ser2271Gly)
c.6970A>G (p.Ser2324Gly)
c.6955A>G (p.Ser2319Gly)
c.6910A>G (p.Ser2304Gly)
c.6892A>G (p.Ser2298Gly)
c.6889A>G (p.Ser2297Gly)
c.6874A>G (p.Ser2292Gly)
c.6847A>G (p.Ser2283Gly)
c.6832A>G (p.Ser2278Gly)
c.6853A>G (p.Ser2285Gly)
c.6829A>G (p.Ser2277Gly)
 gnomAD v4
9g.128632235A>TCA375098291SPTAN1c.6907A>T (p.Ser2303Cys)
c.6934A>T (p.Ser2312Cys)
c.6958A>T (p.Ser2320Cys)
c.6397A>T (p.Ser2133Cys)
c.4476A>T
c.2813A>T
c.6871A>T (p.Ser2291Cys)
n.595A>T
c.6796A>T (p.Ser2266Cys)
c.6856A>T (p.Ser2286Cys)
n.825A>T
n.628A>T
c.6811A>T (p.Ser2271Cys)
c.6970A>T (p.Ser2324Cys)
c.6955A>T (p.Ser2319Cys)
c.6910A>T (p.Ser2304Cys)
c.6892A>T (p.Ser2298Cys)
c.6889A>T (p.Ser2297Cys)
c.6874A>T (p.Ser2292Cys)
c.6847A>T (p.Ser2283Cys)
c.6832A>T (p.Ser2278Cys)
c.6853A>T (p.Ser2285Cys)
c.6829A>T (p.Ser2277Cys)
9g.128632235_128632236insCACACCAAACACACCCAACCA2786021638SPTAN1c.6907_6908insCACACCAAACACACCCAAC (p.Ser2303ThrfsTer?)
c.6934_6935insCACACCAAACACACCCAAC (p.Ser2312ThrfsTer?)
c.6958_6959insCACACCAAACACACCCAAC (p.Ser2320ThrfsTer?)
c.6397_6398insCACACCAAACACACCCAAC (p.Ser2133ThrfsTer?)
c.4476_4477insCACACCAAACACACCCAAC
c.2813_2814insCACACCAAACACACCCAAC
c.6871_6872insCACACCAAACACACCCAAC (p.Ser2291ThrfsTer?)
n.595_596insCACACCAAACACACCCAAC
c.6796_6797insCACACCAAACACACCCAAC (p.Ser2266ThrfsTer?)
c.6856_6857insCACACCAAACACACCCAAC (p.Ser2286ThrfsTer?)
n.825_826insCACACCAAACACACCCAAC
n.628_629insCACACCAAACACACCCAAC
c.6811_6812insCACACCAAACACACCCAAC (p.Ser2271ThrfsTer?)
c.6970_6971insCACACCAAACACACCCAAC (p.Ser2324ThrfsTer?)
c.6955_6956insCACACCAAACACACCCAAC (p.Ser2319ThrfsTer?)
c.6910_6911insCACACCAAACACACCCAAC (p.Ser2304ThrfsTer?)
c.6892_6893insCACACCAAACACACCCAAC (p.Ser2298ThrfsTer?)
c.6889_6890insCACACCAAACACACCCAAC (p.Ser2297ThrfsTer?)
c.6874_6875insCACACCAAACACACCCAAC (p.Ser2292ThrfsTer?)
c.6847_6848insCACACCAAACACACCCAAC (p.Ser2283ThrfsTer?)
c.6832_6833insCACACCAAACACACCCAAC (p.Ser2278ThrfsTer?)
c.6853_6854insCACACCAAACACACCCAAC (p.Ser2285ThrfsTer?)
c.6829_6830insCACACCAAACACACCCAAC (p.Ser2277ThrfsTer?)
9g.128632236G>ACA375098294SPTAN1c.6908G>A (p.Ser2303Asn)
c.6935G>A (p.Ser2312Asn)
c.6959G>A (p.Ser2320Asn)
c.6398G>A (p.Ser2133Asn)
c.4477G>A
c.2814G>A
c.6872G>A (p.Ser2291Asn)
n.596G>A
c.6797G>A (p.Ser2266Asn)
c.6857G>A (p.Ser2286Asn)
n.826G>A
n.629G>A
c.6812G>A (p.Ser2271Asn)
c.6971G>A (p.Ser2324Asn)
c.6956G>A (p.Ser2319Asn)
c.6911G>A (p.Ser2304Asn)
c.6893G>A (p.Ser2298Asn)
c.6890G>A (p.Ser2297Asn)
c.6875G>A (p.Ser2292Asn)
c.6848G>A (p.Ser2283Asn)
c.6833G>A (p.Ser2278Asn)
c.6854G>A (p.Ser2285Asn)
c.6830G>A (p.Ser2277Asn)
9g.128632236G>CCA375098298SPTAN1c.6908G>C (p.Ser2303Thr)
c.6935G>C (p.Ser2312Thr)
c.6959G>C (p.Ser2320Thr)
c.6398G>C (p.Ser2133Thr)
c.4477G>C
c.2814G>C
c.6872G>C (p.Ser2291Thr)
n.596G>C
c.6797G>C (p.Ser2266Thr)
c.6857G>C (p.Ser2286Thr)
n.826G>C
n.629G>C
c.6812G>C (p.Ser2271Thr)
c.6971G>C (p.Ser2324Thr)
c.6956G>C (p.Ser2319Thr)
c.6911G>C (p.Ser2304Thr)
c.6893G>C (p.Ser2298Thr)
c.6890G>C (p.Ser2297Thr)
c.6875G>C (p.Ser2292Thr)
c.6848G>C (p.Ser2283Thr)
c.6833G>C (p.Ser2278Thr)
c.6854G>C (p.Ser2285Thr)
c.6830G>C (p.Ser2277Thr)
9g.128632236G>TCA375098301SPTAN1c.6908G>T (p.Ser2303Ile)
c.6935G>T (p.Ser2312Ile)
c.6959G>T (p.Ser2320Ile)
c.6398G>T (p.Ser2133Ile)
c.4477G>T
c.2814G>T
c.6872G>T (p.Ser2291Ile)
n.596G>T
c.6797G>T (p.Ser2266Ile)
c.6857G>T (p.Ser2286Ile)
n.826G>T
n.629G>T
c.6812G>T (p.Ser2271Ile)
c.6971G>T (p.Ser2324Ile)
c.6956G>T (p.Ser2319Ile)
c.6911G>T (p.Ser2304Ile)
c.6893G>T (p.Ser2298Ile)
c.6890G>T (p.Ser2297Ile)
c.6875G>T (p.Ser2292Ile)
c.6848G>T (p.Ser2283Ile)
c.6833G>T (p.Ser2278Ile)
c.6854G>T (p.Ser2285Ile)
c.6830G>T (p.Ser2277Ile)
9g.128632237C>ACA375098308SPTAN1c.6909C>A (p.Ser2303Arg)
c.6936C>A (p.Ser2312Arg)
c.6960C>A (p.Ser2320Arg)
c.6399C>A (p.Ser2133Arg)
c.4478C>A
c.2815C>A
c.6873C>A (p.Ser2291Arg)
n.597C>A
c.6798C>A (p.Ser2266Arg)
c.6858C>A (p.Ser2286Arg)
n.827C>A
n.630C>A
c.6813C>A (p.Ser2271Arg)
c.6972C>A (p.Ser2324Arg)
c.6957C>A (p.Ser2319Arg)
c.6912C>A (p.Ser2304Arg)
c.6894C>A (p.Ser2298Arg)
c.6891C>A (p.Ser2297Arg)
c.6876C>A (p.Ser2292Arg)
c.6849C>A (p.Ser2283Arg)
c.6834C>A (p.Ser2278Arg)
c.6855C>A (p.Ser2285Arg)
c.6831C>A (p.Ser2277Arg)
9g.128632237C=CA1880371254SPTAN1c.6909C= (p.Ser2303=)
c.6936C= (p.Ser2312=)
c.6960C= (p.Ser2320=)
c.6399C= (p.Ser2133=)
c.4478C=
c.2815C=
c.6873C= (p.Ser2291=)
n.597C=
c.6798C= (p.Ser2266=)
c.6858C= (p.Ser2286=)
n.827C=
n.630C=
c.6813C= (p.Ser2271=)
c.6972C= (p.Ser2324=)
c.6957C= (p.Ser2319=)
c.6912C= (p.Ser2304=)
c.6894C= (p.Ser2298=)
c.6891C= (p.Ser2297=)
c.6876C= (p.Ser2292=)
c.6849C= (p.Ser2283=)
c.6834C= (p.Ser2278=)
c.6855C= (p.Ser2285=)
c.6831C= (p.Ser2277=)
9g.128632237C>GCA375098323SPTAN1c.6909C>G (p.Ser2303Arg)
c.6936C>G (p.Ser2312Arg)
c.6960C>G (p.Ser2320Arg)
c.6399C>G (p.Ser2133Arg)
c.4478C>G
c.2815C>G
c.6873C>G (p.Ser2291Arg)
n.597C>G
c.6798C>G (p.Ser2266Arg)
c.6858C>G (p.Ser2286Arg)
n.827C>G
n.630C>G
c.6813C>G (p.Ser2271Arg)
c.6972C>G (p.Ser2324Arg)
c.6957C>G (p.Ser2319Arg)
c.6912C>G (p.Ser2304Arg)
c.6894C>G (p.Ser2298Arg)
c.6891C>G (p.Ser2297Arg)
c.6876C>G (p.Ser2292Arg)
c.6849C>G (p.Ser2283Arg)
c.6834C>G (p.Ser2278Arg)
c.6855C>G (p.Ser2285Arg)
c.6831C>G (p.Ser2277Arg)
9g.128632237C>TCA467304835SPTAN1c.6909C>T (p.Ser2303=)
c.6936C>T (p.Ser2312=)
c.6960C>T (p.Ser2320=)
c.6399C>T (p.Ser2133=)
c.4478C>T
c.2815C>T
c.6873C>T (p.Ser2291=)
n.597C>T
c.6798C>T (p.Ser2266=)
c.6858C>T (p.Ser2286=)
n.827C>T
n.630C>T
c.6813C>T (p.Ser2271=)
c.6972C>T (p.Ser2324=)
c.6957C>T (p.Ser2319=)
c.6912C>T (p.Ser2304=)
c.6894C>T (p.Ser2298=)
c.6891C>T (p.Ser2297=)
c.6876C>T (p.Ser2292=)
c.6849C>T (p.Ser2283=)
c.6834C>T (p.Ser2278=)
c.6855C>T (p.Ser2285=)
c.6831C>T (p.Ser2277=)
 ClinVar dbSNP gnomAD v4
9g.128632238A>CCA375098327SPTAN1c.6910A>C (p.Thr2304Pro)
c.6937A>C (p.Thr2313Pro)
c.6961A>C (p.Thr2321Pro)
c.6400A>C (p.Thr2134Pro)
c.4479A>C
c.2816A>C
c.6874A>C (p.Thr2292Pro)
n.598A>C
c.6799A>C (p.Thr2267Pro)
c.6859A>C (p.Thr2287Pro)
n.828A>C
n.631A>C
c.6814A>C (p.Thr2272Pro)
c.6973A>C (p.Thr2325Pro)
c.6958A>C (p.Thr2320Pro)
c.6913A>C (p.Thr2305Pro)
c.6895A>C (p.Thr2299Pro)
c.6892A>C (p.Thr2298Pro)
c.6877A>C (p.Thr2293Pro)
c.6850A>C (p.Thr2284Pro)
c.6835A>C (p.Thr2279Pro)
c.6856A>C (p.Thr2286Pro)
c.6832A>C (p.Thr2278Pro)
9g.128632238A>GCA375098331SPTAN1c.6910A>G (p.Thr2304Ala)
c.6937A>G (p.Thr2313Ala)
c.6961A>G (p.Thr2321Ala)
c.6400A>G (p.Thr2134Ala)
c.4479A>G
c.2816A>G
c.6874A>G (p.Thr2292Ala)
n.598A>G
c.6799A>G (p.Thr2267Ala)
c.6859A>G (p.Thr2287Ala)
n.828A>G
n.631A>G
c.6814A>G (p.Thr2272Ala)
c.6973A>G (p.Thr2325Ala)
c.6958A>G (p.Thr2320Ala)
c.6913A>G (p.Thr2305Ala)
c.6895A>G (p.Thr2299Ala)
c.6892A>G (p.Thr2298Ala)
c.6877A>G (p.Thr2293Ala)
c.6850A>G (p.Thr2284Ala)
c.6835A>G (p.Thr2279Ala)
c.6856A>G (p.Thr2286Ala)
c.6832A>G (p.Thr2278Ala)
9g.128632238A>TCA375098329SPTAN1c.6910A>T (p.Thr2304Ser)
c.6937A>T (p.Thr2313Ser)
c.6961A>T (p.Thr2321Ser)
c.6400A>T (p.Thr2134Ser)
c.4479A>T
c.2816A>T
c.6874A>T (p.Thr2292Ser)
n.598A>T
c.6799A>T (p.Thr2267Ser)
c.6859A>T (p.Thr2287Ser)
n.828A>T
n.631A>T
c.6814A>T (p.Thr2272Ser)
c.6973A>T (p.Thr2325Ser)
c.6958A>T (p.Thr2320Ser)
c.6913A>T (p.Thr2305Ser)
c.6895A>T (p.Thr2299Ser)
c.6892A>T (p.Thr2298Ser)
c.6877A>T (p.Thr2293Ser)
c.6850A>T (p.Thr2284Ser)
c.6835A>T (p.Thr2279Ser)
c.6856A>T (p.Thr2286Ser)
c.6832A>T (p.Thr2278Ser)
9g.128632239C>ACA375098333SPTAN1c.6911C>A (p.Thr2304Asn)
c.6938C>A (p.Thr2313Asn)
c.6962C>A (p.Thr2321Asn)
c.6401C>A (p.Thr2134Asn)
c.4480C>A
c.2817C>A
c.6875C>A (p.Thr2292Asn)
n.599C>A
c.6800C>A (p.Thr2267Asn)
c.6860C>A (p.Thr2287Asn)
n.829C>A
n.632C>A
c.6815C>A (p.Thr2272Asn)
c.6974C>A (p.Thr2325Asn)
c.6959C>A (p.Thr2320Asn)
c.6914C>A (p.Thr2305Asn)
c.6896C>A (p.Thr2299Asn)
c.6893C>A (p.Thr2298Asn)
c.6878C>A (p.Thr2293Asn)
c.6851C>A (p.Thr2284Asn)
c.6836C>A (p.Thr2279Asn)
c.6857C>A (p.Thr2286Asn)
c.6833C>A (p.Thr2278Asn)
9g.128632239C>GCA375098336SPTAN1c.6911C>G (p.Thr2304Ser)
c.6938C>G (p.Thr2313Ser)
c.6962C>G (p.Thr2321Ser)
c.6401C>G (p.Thr2134Ser)
c.4480C>G
c.2817C>G
c.6875C>G (p.Thr2292Ser)
n.599C>G
c.6800C>G (p.Thr2267Ser)
c.6860C>G (p.Thr2287Ser)
n.829C>G
n.632C>G
c.6815C>G (p.Thr2272Ser)
c.6974C>G (p.Thr2325Ser)
c.6959C>G (p.Thr2320Ser)
c.6914C>G (p.Thr2305Ser)
c.6896C>G (p.Thr2299Ser)
c.6893C>G (p.Thr2298Ser)
c.6878C>G (p.Thr2293Ser)
c.6851C>G (p.Thr2284Ser)
c.6836C>G (p.Thr2279Ser)
c.6857C>G (p.Thr2286Ser)
c.6833C>G (p.Thr2278Ser)
9g.128632239C>TCA375098339SPTAN1c.6911C>T (p.Thr2304Ile)
c.6938C>T (p.Thr2313Ile)
c.6962C>T (p.Thr2321Ile)
c.6401C>T (p.Thr2134Ile)
c.4480C>T
c.2817C>T
c.6875C>T (p.Thr2292Ile)
n.599C>T
c.6800C>T (p.Thr2267Ile)
c.6860C>T (p.Thr2287Ile)
n.829C>T
n.632C>T
c.6815C>T (p.Thr2272Ile)
c.6974C>T (p.Thr2325Ile)
c.6959C>T (p.Thr2320Ile)
c.6914C>T (p.Thr2305Ile)
c.6896C>T (p.Thr2299Ile)
c.6893C>T (p.Thr2298Ile)
c.6878C>T (p.Thr2293Ile)
c.6851C>T (p.Thr2284Ile)
c.6836C>T (p.Thr2279Ile)
c.6857C>T (p.Thr2286Ile)
c.6833C>T (p.Thr2278Ile)
9g.128632240C>ACA467304836SPTAN1c.6912C>A (p.Thr2304=)
c.6939C>A (p.Thr2313=)
c.6963C>A (p.Thr2321=)
c.6402C>A (p.Thr2134=)
c.4481C>A
c.2818C>A
c.6876C>A (p.Thr2292=)
n.600C>A
c.6801C>A (p.Thr2267=)
c.6861C>A (p.Thr2287=)
n.830C>A
n.633C>A
c.6816C>A (p.Thr2272=)
c.6975C>A (p.Thr2325=)
c.6960C>A (p.Thr2320=)
c.6915C>A (p.Thr2305=)
c.6897C>A (p.Thr2299=)
c.6894C>A (p.Thr2298=)
c.6879C>A (p.Thr2293=)
c.6852C>A (p.Thr2284=)
c.6837C>A (p.Thr2279=)
c.6858C>A (p.Thr2286=)
c.6834C>A (p.Thr2278=)
9g.128632240C=CA1880371255SPTAN1c.6912C= (p.Thr2304=)
c.6939C= (p.Thr2313=)
c.6963C= (p.Thr2321=)
c.6402C= (p.Thr2134=)
c.4481C=
c.2818C=
c.6876C= (p.Thr2292=)
n.600C=
c.6801C= (p.Thr2267=)
c.6861C= (p.Thr2287=)
n.830C=
n.633C=
c.6816C= (p.Thr2272=)
c.6975C= (p.Thr2325=)
c.6960C= (p.Thr2320=)
c.6915C= (p.Thr2305=)
c.6897C= (p.Thr2299=)
c.6894C= (p.Thr2298=)
c.6879C= (p.Thr2293=)
c.6852C= (p.Thr2284=)
c.6837C= (p.Thr2279=)
c.6858C= (p.Thr2286=)
c.6834C= (p.Thr2278=)
9g.128632240C>GCA467304837SPTAN1c.6912C>G (p.Thr2304=)
c.6939C>G (p.Thr2313=)
c.6963C>G (p.Thr2321=)
c.6402C>G (p.Thr2134=)
c.4481C>G
c.2818C>G
c.6876C>G (p.Thr2292=)
n.600C>G
c.6801C>G (p.Thr2267=)
c.6861C>G (p.Thr2287=)
n.830C>G
n.633C>G
c.6816C>G (p.Thr2272=)
c.6975C>G (p.Thr2325=)
c.6960C>G (p.Thr2320=)
c.6915C>G (p.Thr2305=)
c.6897C>G (p.Thr2299=)
c.6894C>G (p.Thr2298=)
c.6879C>G (p.Thr2293=)
c.6852C>G (p.Thr2284=)
c.6837C>G (p.Thr2279=)
c.6858C>G (p.Thr2286=)
c.6834C>G (p.Thr2278=)
9g.128632240C>TCA10626532SPTAN1c.6912C>T (p.Thr2304=)
c.6939C>T (p.Thr2313=)
c.6963C>T (p.Thr2321=)
c.6402C>T (p.Thr2134=)
c.4481C>T
c.2818C>T
c.6876C>T (p.Thr2292=)
n.600C>T
c.6801C>T (p.Thr2267=)
c.6861C>T (p.Thr2287=)
n.830C>T
n.633C>T
c.6816C>T (p.Thr2272=)
c.6975C>T (p.Thr2325=)
c.6960C>T (p.Thr2320=)
c.6915C>T (p.Thr2305=)
c.6897C>T (p.Thr2299=)
c.6894C>T (p.Thr2298=)
c.6879C>T (p.Thr2293=)
c.6852C>T (p.Thr2284=)
c.6837C>T (p.Thr2279=)
c.6858C>T (p.Thr2286=)
c.6834C>T (p.Thr2278=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.128632241G>ACA375098349SPTAN1c.6913G>A (p.Val2305Met)
c.6940G>A (p.Val2314Met)
c.6964G>A (p.Val2322Met)
c.6403G>A (p.Val2135Met)
c.4482G>A
c.2819G>A
c.6877G>A (p.Val2293Met)
n.601G>A
c.6802G>A (p.Val2268Met)
c.6862G>A (p.Val2288Met)
n.831G>A
n.634G>A
c.6817G>A (p.Val2273Met)
c.6976G>A (p.Val2326Met)
c.6961G>A (p.Val2321Met)
c.6916G>A (p.Val2306Met)
c.6898G>A (p.Val2300Met)
c.6895G>A (p.Val2299Met)
c.6880G>A (p.Val2294Met)
c.6853G>A (p.Val2285Met)
c.6838G>A (p.Val2280Met)
c.6859G>A (p.Val2287Met)
c.6835G>A (p.Val2279Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.128632241G>CCA375098351SPTAN1c.6913G>C (p.Val2305Leu)
c.6940G>C (p.Val2314Leu)
c.6964G>C (p.Val2322Leu)
c.6403G>C (p.Val2135Leu)
c.4482G>C
c.2819G>C
c.6877G>C (p.Val2293Leu)
n.601G>C
c.6802G>C (p.Val2268Leu)
c.6862G>C (p.Val2288Leu)
n.831G>C
n.634G>C
c.6817G>C (p.Val2273Leu)
c.6976G>C (p.Val2326Leu)
c.6961G>C (p.Val2321Leu)
c.6916G>C (p.Val2306Leu)
c.6898G>C (p.Val2300Leu)
c.6895G>C (p.Val2299Leu)
c.6880G>C (p.Val2294Leu)
c.6853G>C (p.Val2285Leu)
c.6838G>C (p.Val2280Leu)
c.6859G>C (p.Val2287Leu)
c.6835G>C (p.Val2279Leu)
9g.128632241G=CA1880371256SPTAN1c.6913G= (p.Val2305=)
c.6940G= (p.Val2314=)
c.6964G= (p.Val2322=)
c.6403G= (p.Val2135=)
c.4482G=
c.2819G=
c.6877G= (p.Val2293=)
n.601G=
c.6802G= (p.Val2268=)
c.6862G= (p.Val2288=)
n.831G=
n.634G=
c.6817G= (p.Val2273=)
c.6976G= (p.Val2326=)
c.6961G= (p.Val2321=)
c.6916G= (p.Val2306=)
c.6898G= (p.Val2300=)
c.6895G= (p.Val2299=)
c.6880G= (p.Val2294=)
c.6853G= (p.Val2285=)
c.6838G= (p.Val2280=)
c.6859G= (p.Val2287=)
c.6835G= (p.Val2279=)
9g.128632241G>TCA375098350SPTAN1c.6913G>T (p.Val2305Leu)
c.6940G>T (p.Val2314Leu)
c.6964G>T (p.Val2322Leu)
c.6403G>T (p.Val2135Leu)
c.4482G>T
c.2819G>T
c.6877G>T (p.Val2293Leu)
n.601G>T
c.6802G>T (p.Val2268Leu)
c.6862G>T (p.Val2288Leu)
n.831G>T
n.634G>T
c.6817G>T (p.Val2273Leu)
c.6976G>T (p.Val2326Leu)
c.6961G>T (p.Val2321Leu)
c.6916G>T (p.Val2306Leu)
c.6898G>T (p.Val2300Leu)
c.6895G>T (p.Val2299Leu)
c.6880G>T (p.Val2294Leu)
c.6853G>T (p.Val2285Leu)
c.6838G>T (p.Val2280Leu)
c.6859G>T (p.Val2287Leu)
c.6835G>T (p.Val2279Leu)
9g.128632242T>ACA375098353SPTAN1c.6914T>A (p.Val2305Glu)
c.6941T>A (p.Val2314Glu)
c.6965T>A (p.Val2322Glu)
c.6404T>A (p.Val2135Glu)
c.4483T>A
c.2820T>A
c.6878T>A (p.Val2293Glu)
n.602T>A
c.6803T>A (p.Val2268Glu)
c.6863T>A (p.Val2288Glu)
n.832T>A
n.635T>A
c.6818T>A (p.Val2273Glu)
c.6977T>A (p.Val2326Glu)
c.6962T>A (p.Val2321Glu)
c.6917T>A (p.Val2306Glu)
c.6899T>A (p.Val2300Glu)
c.6896T>A (p.Val2299Glu)
c.6881T>A (p.Val2294Glu)
c.6854T>A (p.Val2285Glu)
c.6839T>A (p.Val2280Glu)
c.6860T>A (p.Val2287Glu)
c.6836T>A (p.Val2279Glu)
9g.128632242T>CCA375098355SPTAN1c.6914T>C (p.Val2305Ala)
c.6941T>C (p.Val2314Ala)
c.6965T>C (p.Val2322Ala)
c.6404T>C (p.Val2135Ala)
c.4483T>C
c.2820T>C
c.6878T>C (p.Val2293Ala)
n.602T>C
c.6803T>C (p.Val2268Ala)
c.6863T>C (p.Val2288Ala)
n.832T>C
n.635T>C
c.6818T>C (p.Val2273Ala)
c.6977T>C (p.Val2326Ala)
c.6962T>C (p.Val2321Ala)
c.6917T>C (p.Val2306Ala)
c.6899T>C (p.Val2300Ala)
c.6896T>C (p.Val2299Ala)
c.6881T>C (p.Val2294Ala)
c.6854T>C (p.Val2285Ala)
c.6839T>C (p.Val2280Ala)
c.6860T>C (p.Val2287Ala)
c.6836T>C (p.Val2279Ala)
9g.128632242T>GCA375098369SPTAN1c.6914T>G (p.Val2305Gly)
c.6941T>G (p.Val2314Gly)
c.6965T>G (p.Val2322Gly)
c.6404T>G (p.Val2135Gly)
c.4483T>G
c.2820T>G
c.6878T>G (p.Val2293Gly)
n.602T>G
c.6803T>G (p.Val2268Gly)
c.6863T>G (p.Val2288Gly)
n.832T>G
n.635T>G
c.6818T>G (p.Val2273Gly)
c.6977T>G (p.Val2326Gly)
c.6962T>G (p.Val2321Gly)
c.6917T>G (p.Val2306Gly)
c.6899T>G (p.Val2300Gly)
c.6896T>G (p.Val2299Gly)
c.6881T>G (p.Val2294Gly)
c.6854T>G (p.Val2285Gly)
c.6839T>G (p.Val2280Gly)
c.6860T>G (p.Val2287Gly)
c.6836T>G (p.Val2279Gly)
9g.128632243G>ACA467304838SPTAN1c.6915G>A (p.Val2305=)
c.6942G>A (p.Val2314=)
c.6966G>A (p.Val2322=)
c.6405G>A (p.Val2135=)
c.4484G>A
c.2821G>A
c.6879G>A (p.Val2293=)
n.603G>A
c.6804G>A (p.Val2268=)
c.6864G>A (p.Val2288=)
n.833G>A
n.636G>A
c.6819G>A (p.Val2273=)
c.6978G>A (p.Val2326=)
c.6963G>A (p.Val2321=)
c.6918G>A (p.Val2306=)
c.6900G>A (p.Val2300=)
c.6897G>A (p.Val2299=)
c.6882G>A (p.Val2294=)
c.6855G>A (p.Val2285=)
c.6840G>A (p.Val2280=)
c.6861G>A (p.Val2287=)
c.6837G>A (p.Val2279=)
9g.128632243G>CCA467304839SPTAN1c.6915G>C (p.Val2305=)
c.6942G>C (p.Val2314=)
c.6966G>C (p.Val2322=)
c.6405G>C (p.Val2135=)
c.4484G>C
c.2821G>C
c.6879G>C (p.Val2293=)
n.603G>C
c.6804G>C (p.Val2268=)
c.6864G>C (p.Val2288=)
n.833G>C
n.636G>C
c.6819G>C (p.Val2273=)
c.6978G>C (p.Val2326=)
c.6963G>C (p.Val2321=)
c.6918G>C (p.Val2306=)
c.6900G>C (p.Val2300=)
c.6897G>C (p.Val2299=)
c.6882G>C (p.Val2294=)
c.6855G>C (p.Val2285=)
c.6840G>C (p.Val2280=)
c.6861G>C (p.Val2287=)
c.6837G>C (p.Val2279=)
9g.128632243G>TCA467304840SPTAN1c.6915G>T (p.Val2305=)
c.6942G>T (p.Val2314=)
c.6966G>T (p.Val2322=)
c.6405G>T (p.Val2135=)
c.4484G>T
c.2821G>T
c.6879G>T (p.Val2293=)
n.603G>T
c.6804G>T (p.Val2268=)
c.6864G>T (p.Val2288=)
n.833G>T
n.636G>T
c.6819G>T (p.Val2273=)
c.6978G>T (p.Val2326=)
c.6963G>T (p.Val2321=)
c.6918G>T (p.Val2306=)
c.6900G>T (p.Val2300=)
c.6897G>T (p.Val2299=)
c.6882G>T (p.Val2294=)
c.6855G>T (p.Val2285=)
c.6840G>T (p.Val2280=)
c.6861G>T (p.Val2287=)
c.6837G>T (p.Val2279=)
9g.128632244G>ACA375098373SPTAN1c.6916G>A (p.Gly2306Ser)
c.6943G>A (p.Gly2315Ser)
c.6967G>A (p.Gly2323Ser)
c.6406G>A (p.Gly2136Ser)
c.4485G>A
c.2822G>A
c.6880G>A (p.Gly2294Ser)
n.604G>A
c.6805G>A (p.Gly2269Ser)
c.6865G>A (p.Gly2289Ser)
n.834G>A
n.637G>A
c.6820G>A (p.Gly2274Ser)
c.6979G>A (p.Gly2327Ser)
c.6964G>A (p.Gly2322Ser)
c.6919G>A (p.Gly2307Ser)
c.6901G>A (p.Gly2301Ser)
c.6898G>A (p.Gly2300Ser)
c.6883G>A (p.Gly2295Ser)
c.6856G>A (p.Gly2286Ser)
c.6841G>A (p.Gly2281Ser)
c.6862G>A (p.Gly2288Ser)
c.6838G>A (p.Gly2280Ser)
9g.128632244G>CCA375098374SPTAN1c.6916G>C (p.Gly2306Arg)
c.6943G>C (p.Gly2315Arg)
c.6967G>C (p.Gly2323Arg)
c.6406G>C (p.Gly2136Arg)
c.4485G>C
c.2822G>C
c.6880G>C (p.Gly2294Arg)
n.604G>C
c.6805G>C (p.Gly2269Arg)
c.6865G>C (p.Gly2289Arg)
n.834G>C
n.637G>C
c.6820G>C (p.Gly2274Arg)
c.6979G>C (p.Gly2327Arg)
c.6964G>C (p.Gly2322Arg)
c.6919G>C (p.Gly2307Arg)
c.6901G>C (p.Gly2301Arg)
c.6898G>C (p.Gly2300Arg)
c.6883G>C (p.Gly2295Arg)
c.6856G>C (p.Gly2286Arg)
c.6841G>C (p.Gly2281Arg)
c.6862G>C (p.Gly2288Arg)
c.6838G>C (p.Gly2280Arg)
9g.128632244G>TCA375098375SPTAN1c.6916G>T (p.Gly2306Cys)
c.6943G>T (p.Gly2315Cys)
c.6967G>T (p.Gly2323Cys)
c.6406G>T (p.Gly2136Cys)
c.4485G>T
c.2822G>T
c.6880G>T (p.Gly2294Cys)
n.604G>T
c.6805G>T (p.Gly2269Cys)
c.6865G>T (p.Gly2289Cys)
n.834G>T
n.637G>T
c.6820G>T (p.Gly2274Cys)
c.6979G>T (p.Gly2327Cys)
c.6964G>T (p.Gly2322Cys)
c.6919G>T (p.Gly2307Cys)
c.6901G>T (p.Gly2301Cys)
c.6898G>T (p.Gly2300Cys)
c.6883G>T (p.Gly2295Cys)
c.6856G>T (p.Gly2286Cys)
c.6841G>T (p.Gly2281Cys)
c.6862G>T (p.Gly2288Cys)
c.6838G>T (p.Gly2280Cys)
9g.128632245G>ACA375098376SPTAN1c.6917G>A (p.Gly2306Asp)
c.6944G>A (p.Gly2315Asp)
c.6968G>A (p.Gly2323Asp)
c.6407G>A (p.Gly2136Asp)
c.4486G>A
c.2823G>A
c.6881G>A (p.Gly2294Asp)
n.605G>A
c.6806G>A (p.Gly2269Asp)
c.6866G>A (p.Gly2289Asp)
n.835G>A
n.638G>A
c.6821G>A (p.Gly2274Asp)
c.6980G>A (p.Gly2327Asp)
c.6965G>A (p.Gly2322Asp)
c.6920G>A (p.Gly2307Asp)
c.6902G>A (p.Gly2301Asp)
c.6899G>A (p.Gly2300Asp)
c.6884G>A (p.Gly2295Asp)
c.6857G>A (p.Gly2286Asp)
c.6842G>A (p.Gly2281Asp)
c.6863G>A (p.Gly2288Asp)
c.6839G>A (p.Gly2280Asp)
9g.128632245G>CCA375098377SPTAN1c.6917G>C (p.Gly2306Ala)
c.6944G>C (p.Gly2315Ala)
c.6968G>C (p.Gly2323Ala)
c.6407G>C (p.Gly2136Ala)
c.4486G>C
c.2823G>C
c.6881G>C (p.Gly2294Ala)
n.605G>C
c.6806G>C (p.Gly2269Ala)
c.6866G>C (p.Gly2289Ala)
n.835G>C
n.638G>C
c.6821G>C (p.Gly2274Ala)
c.6980G>C (p.Gly2327Ala)
c.6965G>C (p.Gly2322Ala)
c.6920G>C (p.Gly2307Ala)
c.6902G>C (p.Gly2301Ala)
c.6899G>C (p.Gly2300Ala)
c.6884G>C (p.Gly2295Ala)
c.6857G>C (p.Gly2286Ala)
c.6842G>C (p.Gly2281Ala)
c.6863G>C (p.Gly2288Ala)
c.6839G>C (p.Gly2280Ala)
9g.128632245G>TCA375098379SPTAN1c.6917G>T (p.Gly2306Val)
c.6944G>T (p.Gly2315Val)
c.6968G>T (p.Gly2323Val)
c.6407G>T (p.Gly2136Val)
c.4486G>T
c.2823G>T
c.6881G>T (p.Gly2294Val)
n.605G>T
c.6806G>T (p.Gly2269Val)
c.6866G>T (p.Gly2289Val)
n.835G>T
n.638G>T
c.6821G>T (p.Gly2274Val)
c.6980G>T (p.Gly2327Val)
c.6965G>T (p.Gly2322Val)
c.6920G>T (p.Gly2307Val)
c.6902G>T (p.Gly2301Val)
c.6899G>T (p.Gly2300Val)
c.6884G>T (p.Gly2295Val)
c.6857G>T (p.Gly2286Val)
c.6842G>T (p.Gly2281Val)
c.6863G>T (p.Gly2288Val)
c.6839G>T (p.Gly2280Val)
9g.128632246C>ACA467304841SPTAN1c.6918C>A (p.Gly2306=)
c.6945C>A (p.Gly2315=)
c.6969C>A (p.Gly2323=)
c.6408C>A (p.Gly2136=)
c.4487C>A
c.2824C>A
c.6882C>A (p.Gly2294=)
n.606C>A
c.6807C>A (p.Gly2269=)
c.6867C>A (p.Gly2289=)
n.836C>A
n.639C>A
c.6822C>A (p.Gly2274=)
c.6981C>A (p.Gly2327=)
c.6966C>A (p.Gly2322=)
c.6921C>A (p.Gly2307=)
c.6903C>A (p.Gly2301=)
c.6900C>A (p.Gly2300=)
c.6885C>A (p.Gly2295=)
c.6858C>A (p.Gly2286=)
c.6843C>A (p.Gly2281=)
c.6864C>A (p.Gly2288=)
c.6840C>A (p.Gly2280=)
9g.128632246C=CA1880371257SPTAN1c.6918C= (p.Gly2306=)
c.6945C= (p.Gly2315=)
c.6969C= (p.Gly2323=)
c.6408C= (p.Gly2136=)
c.4487C=
c.2824C=
c.6882C= (p.Gly2294=)
n.606C=
c.6807C= (p.Gly2269=)
c.6867C= (p.Gly2289=)
n.836C=
n.639C=
c.6822C= (p.Gly2274=)
c.6981C= (p.Gly2327=)
c.6966C= (p.Gly2322=)
c.6921C= (p.Gly2307=)
c.6903C= (p.Gly2301=)
c.6900C= (p.Gly2300=)
c.6885C= (p.Gly2295=)
c.6858C= (p.Gly2286=)
c.6843C= (p.Gly2281=)
c.6864C= (p.Gly2288=)
c.6840C= (p.Gly2280=)
9g.128632246C>GCA467304842SPTAN1c.6918C>G (p.Gly2306=)
c.6945C>G (p.Gly2315=)
c.6969C>G (p.Gly2323=)
c.6408C>G (p.Gly2136=)
c.4487C>G
c.2824C>G
c.6882C>G (p.Gly2294=)
n.606C>G
c.6807C>G (p.Gly2269=)
c.6867C>G (p.Gly2289=)
n.836C>G
n.639C>G
c.6822C>G (p.Gly2274=)
c.6981C>G (p.Gly2327=)
c.6966C>G (p.Gly2322=)
c.6921C>G (p.Gly2307=)
c.6903C>G (p.Gly2301=)
c.6900C>G (p.Gly2300=)
c.6885C>G (p.Gly2295=)
c.6858C>G (p.Gly2286=)
c.6843C>G (p.Gly2281=)
c.6864C>G (p.Gly2288=)
c.6840C>G (p.Gly2280=)
 ClinVar gnomAD v4
9g.128632246C>TCA467304843SPTAN1c.6918C>T (p.Gly2306=)
c.6945C>T (p.Gly2315=)
c.6969C>T (p.Gly2323=)
c.6408C>T (p.Gly2136=)
c.4487C>T
c.2824C>T
c.6882C>T (p.Gly2294=)
n.606C>T
c.6807C>T (p.Gly2269=)
c.6867C>T (p.Gly2289=)
n.836C>T
n.639C>T
c.6822C>T (p.Gly2274=)
c.6981C>T (p.Gly2327=)
c.6966C>T (p.Gly2322=)
c.6921C>T (p.Gly2307=)
c.6903C>T (p.Gly2301=)
c.6900C>T (p.Gly2300=)
c.6885C>T (p.Gly2295=)
c.6858C>T (p.Gly2286=)
c.6843C>T (p.Gly2281=)
c.6864C>T (p.Gly2288=)
c.6840C>T (p.Gly2280=)
 ClinVar dbSNP gnomAD v4
9g.128632247C>ACA375098383SPTAN1c.6919C>A (p.Leu2307Ile)
c.6946C>A (p.Leu2316Ile)
c.6970C>A (p.Leu2324Ile)
c.6409C>A (p.Leu2137Ile)
c.4488C>A
c.2825C>A
c.6883C>A (p.Leu2295Ile)
n.607C>A
c.6808C>A (p.Leu2270Ile)
c.6868C>A (p.Leu2290Ile)
n.837C>A
n.640C>A
c.6823C>A (p.Leu2275Ile)
c.6982C>A (p.Leu2328Ile)
c.6967C>A (p.Leu2323Ile)
c.6922C>A (p.Leu2308Ile)
c.6904C>A (p.Leu2302Ile)
c.6901C>A (p.Leu2301Ile)
c.6886C>A (p.Leu2296Ile)
c.6859C>A (p.Leu2287Ile)
c.6844C>A (p.Leu2282Ile)
c.6865C>A (p.Leu2289Ile)
c.6841C>A (p.Leu2281Ile)
9g.128632247C>GCA375098386SPTAN1c.6919C>G (p.Leu2307Val)
c.6946C>G (p.Leu2316Val)
c.6970C>G (p.Leu2324Val)
c.6409C>G (p.Leu2137Val)
c.4488C>G
c.2825C>G
c.6883C>G (p.Leu2295Val)
n.607C>G
c.6808C>G (p.Leu2270Val)
c.6868C>G (p.Leu2290Val)
n.837C>G
n.640C>G
c.6823C>G (p.Leu2275Val)
c.6982C>G (p.Leu2328Val)
c.6967C>G (p.Leu2323Val)
c.6922C>G (p.Leu2308Val)
c.6904C>G (p.Leu2302Val)
c.6901C>G (p.Leu2301Val)
c.6886C>G (p.Leu2296Val)
c.6859C>G (p.Leu2287Val)
c.6844C>G (p.Leu2282Val)
c.6865C>G (p.Leu2289Val)
c.6841C>G (p.Leu2281Val)
9g.128632247C>TCA375098397SPTAN1c.6919C>T (p.Leu2307Phe)
c.6946C>T (p.Leu2316Phe)
c.6970C>T (p.Leu2324Phe)
c.6409C>T (p.Leu2137Phe)
c.4488C>T
c.2825C>T
c.6883C>T (p.Leu2295Phe)
n.607C>T
c.6808C>T (p.Leu2270Phe)
c.6868C>T (p.Leu2290Phe)
n.837C>T
n.640C>T
c.6823C>T (p.Leu2275Phe)
c.6982C>T (p.Leu2328Phe)
c.6967C>T (p.Leu2323Phe)
c.6922C>T (p.Leu2308Phe)
c.6904C>T (p.Leu2302Phe)
c.6901C>T (p.Leu2301Phe)
c.6886C>T (p.Leu2296Phe)
c.6859C>T (p.Leu2287Phe)
c.6844C>T (p.Leu2282Phe)
c.6865C>T (p.Leu2289Phe)
c.6841C>T (p.Leu2281Phe)
9g.128632248T>ACA375098404SPTAN1c.6920T>A (p.Leu2307His)
c.6947T>A (p.Leu2316His)
c.6971T>A (p.Leu2324His)
c.6410T>A (p.Leu2137His)
c.4489T>A
c.2826T>A
c.6884T>A (p.Leu2295His)
n.608T>A
c.6809T>A (p.Leu2270His)
c.6869T>A (p.Leu2290His)
n.838T>A
n.641T>A
c.6824T>A (p.Leu2275His)
c.6983T>A (p.Leu2328His)
c.6968T>A (p.Leu2323His)
c.6923T>A (p.Leu2308His)
c.6905T>A (p.Leu2302His)
c.6902T>A (p.Leu2301His)
c.6887T>A (p.Leu2296His)
c.6860T>A (p.Leu2287His)
c.6845T>A (p.Leu2282His)
c.6866T>A (p.Leu2289His)
c.6842T>A (p.Leu2281His)
9g.128632248T>CCA375098402SPTAN1c.6920T>C (p.Leu2307Pro)
c.6947T>C (p.Leu2316Pro)
c.6971T>C (p.Leu2324Pro)
c.6410T>C (p.Leu2137Pro)
c.4489T>C
c.2826T>C
c.6884T>C (p.Leu2295Pro)
n.608T>C
c.6809T>C (p.Leu2270Pro)
c.6869T>C (p.Leu2290Pro)
n.838T>C
n.641T>C
c.6824T>C (p.Leu2275Pro)
c.6983T>C (p.Leu2328Pro)
c.6968T>C (p.Leu2323Pro)
c.6923T>C (p.Leu2308Pro)
c.6905T>C (p.Leu2302Pro)
c.6902T>C (p.Leu2301Pro)
c.6887T>C (p.Leu2296Pro)
c.6860T>C (p.Leu2287Pro)
c.6845T>C (p.Leu2282Pro)
c.6866T>C (p.Leu2289Pro)
c.6842T>C (p.Leu2281Pro)
9g.128632248T>GCA375098399SPTAN1c.6920T>G (p.Leu2307Arg)
c.6947T>G (p.Leu2316Arg)
c.6971T>G (p.Leu2324Arg)
c.6410T>G (p.Leu2137Arg)
c.4489T>G
c.2826T>G
c.6884T>G (p.Leu2295Arg)
n.608T>G
c.6809T>G (p.Leu2270Arg)
c.6869T>G (p.Leu2290Arg)
n.838T>G
n.641T>G
c.6824T>G (p.Leu2275Arg)
c.6983T>G (p.Leu2328Arg)
c.6968T>G (p.Leu2323Arg)
c.6923T>G (p.Leu2308Arg)
c.6905T>G (p.Leu2302Arg)
c.6902T>G (p.Leu2301Arg)
c.6887T>G (p.Leu2296Arg)
c.6860T>G (p.Leu2287Arg)
c.6845T>G (p.Leu2282Arg)
c.6866T>G (p.Leu2289Arg)
c.6842T>G (p.Leu2281Arg)
9g.128632249C>ACA467304844SPTAN1c.6921C>A (p.Leu2307=)
c.6948C>A (p.Leu2316=)
c.6972C>A (p.Leu2324=)
c.6411C>A (p.Leu2137=)
c.4490C>A
c.2827C>A
c.6885C>A (p.Leu2295=)
n.609C>A
c.6810C>A (p.Leu2270=)
c.6870C>A (p.Leu2290=)
n.839C>A
n.642C>A
c.6825C>A (p.Leu2275=)
c.6984C>A (p.Leu2328=)
c.6969C>A (p.Leu2323=)
c.6924C>A (p.Leu2308=)
c.6906C>A (p.Leu2302=)
c.6903C>A (p.Leu2301=)
c.6888C>A (p.Leu2296=)
c.6861C>A (p.Leu2287=)
c.6846C>A (p.Leu2282=)
c.6867C>A (p.Leu2289=)
c.6843C>A (p.Leu2281=)
9g.128632249C=CA1880371258SPTAN1c.6921C= (p.Leu2307=)
c.6948C= (p.Leu2316=)
c.6972C= (p.Leu2324=)
c.6411C= (p.Leu2137=)
c.4490C=
c.2827C=
c.6885C= (p.Leu2295=)
n.609C=
c.6810C= (p.Leu2270=)
c.6870C= (p.Leu2290=)
n.839C=
n.642C=
c.6825C= (p.Leu2275=)
c.6984C= (p.Leu2328=)
c.6969C= (p.Leu2323=)
c.6924C= (p.Leu2308=)
c.6906C= (p.Leu2302=)
c.6903C= (p.Leu2301=)
c.6888C= (p.Leu2296=)
c.6861C= (p.Leu2287=)
c.6846C= (p.Leu2282=)
c.6867C= (p.Leu2289=)
c.6843C= (p.Leu2281=)
9g.128632249C>GCA467304845SPTAN1c.6921C>G (p.Leu2307=)
c.6948C>G (p.Leu2316=)
c.6972C>G (p.Leu2324=)
c.6411C>G (p.Leu2137=)
c.4490C>G
c.2827C>G
c.6885C>G (p.Leu2295=)
n.609C>G
c.6810C>G (p.Leu2270=)
c.6870C>G (p.Leu2290=)
n.839C>G
n.642C>G
c.6825C>G (p.Leu2275=)
c.6984C>G (p.Leu2328=)
c.6969C>G (p.Leu2323=)
c.6924C>G (p.Leu2308=)
c.6906C>G (p.Leu2302=)
c.6903C>G (p.Leu2301=)
c.6888C>G (p.Leu2296=)
c.6861C>G (p.Leu2287=)
c.6846C>G (p.Leu2282=)
c.6867C>G (p.Leu2289=)
c.6843C>G (p.Leu2281=)
 dbSNP
9g.128632249C>TCA5265926SPTAN1c.6921C>T (p.Leu2307=)
c.6948C>T (p.Leu2316=)
c.6972C>T (p.Leu2324=)
c.6411C>T (p.Leu2137=)
c.4490C>T
c.2827C>T
c.6885C>T (p.Leu2295=)
n.609C>T
c.6810C>T (p.Leu2270=)
c.6870C>T (p.Leu2290=)
n.839C>T
n.642C>T
c.6825C>T (p.Leu2275=)
c.6984C>T (p.Leu2328=)
c.6969C>T (p.Leu2323=)
c.6924C>T (p.Leu2308=)
c.6906C>T (p.Leu2302=)
c.6903C>T (p.Leu2301=)
c.6888C>T (p.Leu2296=)
c.6861C>T (p.Leu2287=)
c.6846C>T (p.Leu2282=)
c.6867C>T (p.Leu2289=)
c.6843C>T (p.Leu2281=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.128632250G>ACA375098414SPTAN1c.6922G>A (p.Ala2308Thr)
c.6949G>A (p.Ala2317Thr)
c.6973G>A (p.Ala2325Thr)
c.6412G>A (p.Ala2138Thr)
c.4491G>A
c.2828G>A
c.6886G>A (p.Ala2296Thr)
n.610G>A
c.6811G>A (p.Ala2271Thr)
c.6871G>A (p.Ala2291Thr)
n.840G>A
n.643G>A
c.6826G>A (p.Ala2276Thr)
c.6985G>A (p.Ala2329Thr)
c.6970G>A (p.Ala2324Thr)
c.6925G>A (p.Ala2309Thr)
c.6907G>A (p.Ala2303Thr)
c.6904G>A (p.Ala2302Thr)
c.6889G>A (p.Ala2297Thr)
c.6862G>A (p.Ala2288Thr)
c.6847G>A (p.Ala2283Thr)
c.6868G>A (p.Ala2290Thr)
c.6844G>A (p.Ala2282Thr)
 ClinVar dbSNP COSMIC
9g.128632250G>CCA375098412SPTAN1c.6922G>C (p.Ala2308Pro)
c.6949G>C (p.Ala2317Pro)
c.6973G>C (p.Ala2325Pro)
c.6412G>C (p.Ala2138Pro)
c.4491G>C
c.2828G>C
c.6886G>C (p.Ala2296Pro)
n.610G>C
c.6811G>C (p.Ala2271Pro)
c.6871G>C (p.Ala2291Pro)
n.840G>C
n.643G>C
c.6826G>C (p.Ala2276Pro)
c.6985G>C (p.Ala2329Pro)
c.6970G>C (p.Ala2324Pro)
c.6925G>C (p.Ala2309Pro)
c.6907G>C (p.Ala2303Pro)
c.6904G>C (p.Ala2302Pro)
c.6889G>C (p.Ala2297Pro)
c.6862G>C (p.Ala2288Pro)
c.6847G>C (p.Ala2283Pro)
c.6868G>C (p.Ala2290Pro)
c.6844G>C (p.Ala2282Pro)
9g.128632250G>TCA375098416SPTAN1c.6922G>T (p.Ala2308Ser)
c.6949G>T (p.Ala2317Ser)
c.6973G>T (p.Ala2325Ser)
c.6412G>T (p.Ala2138Ser)
c.4491G>T
c.2828G>T
c.6886G>T (p.Ala2296Ser)
n.610G>T
c.6811G>T (p.Ala2271Ser)
c.6871G>T (p.Ala2291Ser)
n.840G>T
n.643G>T
c.6826G>T (p.Ala2276Ser)
c.6985G>T (p.Ala2329Ser)
c.6970G>T (p.Ala2324Ser)
c.6925G>T (p.Ala2309Ser)
c.6907G>T (p.Ala2303Ser)
c.6904G>T (p.Ala2302Ser)
c.6889G>T (p.Ala2297Ser)
c.6862G>T (p.Ala2288Ser)
c.6847G>T (p.Ala2283Ser)
c.6868G>T (p.Ala2290Ser)
c.6844G>T (p.Ala2282Ser)
9g.128632251C>ACA375098418SPTAN1c.6923C>A (p.Ala2308Asp)
c.6950C>A (p.Ala2317Asp)
c.6974C>A (p.Ala2325Asp)
c.6413C>A (p.Ala2138Asp)
c.4492C>A
c.2829C>A
c.6887C>A (p.Ala2296Asp)
n.611C>A
c.6812C>A (p.Ala2271Asp)
c.6872C>A (p.Ala2291Asp)
n.841C>A
n.644C>A
c.6827C>A (p.Ala2276Asp)
c.6986C>A (p.Ala2329Asp)
c.6971C>A (p.Ala2324Asp)
c.6926C>A (p.Ala2309Asp)
c.6908C>A (p.Ala2303Asp)
c.6905C>A (p.Ala2302Asp)
c.6890C>A (p.Ala2297Asp)
c.6863C>A (p.Ala2288Asp)
c.6848C>A (p.Ala2283Asp)
c.6869C>A (p.Ala2290Asp)
c.6845C>A (p.Ala2282Asp)
9g.128632251C>GCA375098423SPTAN1c.6923C>G (p.Ala2308Gly)
c.6950C>G (p.Ala2317Gly)
c.6974C>G (p.Ala2325Gly)
c.6413C>G (p.Ala2138Gly)
c.4492C>G
c.2829C>G
c.6887C>G (p.Ala2296Gly)
n.611C>G
c.6812C>G (p.Ala2271Gly)
c.6872C>G (p.Ala2291Gly)
n.841C>G
n.644C>G
c.6827C>G (p.Ala2276Gly)
c.6986C>G (p.Ala2329Gly)
c.6971C>G (p.Ala2324Gly)
c.6926C>G (p.Ala2309Gly)
c.6908C>G (p.Ala2303Gly)
c.6905C>G (p.Ala2302Gly)
c.6890C>G (p.Ala2297Gly)
c.6863C>G (p.Ala2288Gly)
c.6848C>G (p.Ala2283Gly)
c.6869C>G (p.Ala2290Gly)
c.6845C>G (p.Ala2282Gly)
9g.128632251C>TCA375098420SPTAN1c.6923C>T (p.Ala2308Val)
c.6950C>T (p.Ala2317Val)
c.6974C>T (p.Ala2325Val)
c.6413C>T (p.Ala2138Val)
c.4492C>T
c.2829C>T
c.6887C>T (p.Ala2296Val)
n.611C>T
c.6812C>T (p.Ala2271Val)
c.6872C>T (p.Ala2291Val)
n.841C>T
n.644C>T
c.6827C>T (p.Ala2276Val)
c.6986C>T (p.Ala2329Val)
c.6971C>T (p.Ala2324Val)
c.6926C>T (p.Ala2309Val)
c.6908C>T (p.Ala2303Val)
c.6905C>T (p.Ala2302Val)
c.6890C>T (p.Ala2297Val)
c.6863C>T (p.Ala2288Val)
c.6848C>T (p.Ala2283Val)
c.6869C>T (p.Ala2290Val)
c.6845C>T (p.Ala2282Val)
 ClinVar dbSNP
9g.128632252C>ACA467304847SPTAN1c.6924C>A (p.Ala2308=)
c.6951C>A (p.Ala2317=)
c.6975C>A (p.Ala2325=)
c.6414C>A (p.Ala2138=)
c.4493C>A
c.2830C>A
c.6888C>A (p.Ala2296=)
n.612C>A
c.6813C>A (p.Ala2271=)
c.6873C>A (p.Ala2291=)
n.842C>A
n.645C>A
c.6828C>A (p.Ala2276=)
c.6987C>A (p.Ala2329=)
c.6972C>A (p.Ala2324=)
c.6927C>A (p.Ala2309=)
c.6909C>A (p.Ala2303=)
c.6906C>A (p.Ala2302=)
c.6891C>A (p.Ala2297=)
c.6864C>A (p.Ala2288=)
c.6849C>A (p.Ala2283=)
c.6870C>A (p.Ala2290=)
c.6846C>A (p.Ala2282=)
9g.128632252C>GCA467304848SPTAN1c.6924C>G (p.Ala2308=)
c.6951C>G (p.Ala2317=)
c.6975C>G (p.Ala2325=)
c.6414C>G (p.Ala2138=)
c.4493C>G
c.2830C>G
c.6888C>G (p.Ala2296=)
n.612C>G
c.6813C>G (p.Ala2271=)
c.6873C>G (p.Ala2291=)
n.842C>G
n.645C>G
c.6828C>G (p.Ala2276=)
c.6987C>G (p.Ala2329=)
c.6972C>G (p.Ala2324=)
c.6927C>G (p.Ala2309=)
c.6909C>G (p.Ala2303=)
c.6906C>G (p.Ala2302=)
c.6891C>G (p.Ala2297=)
c.6864C>G (p.Ala2288=)
c.6849C>G (p.Ala2283=)
c.6870C>G (p.Ala2290=)
c.6846C>G (p.Ala2282=)
9g.128632252C>TCA467304846SPTAN1c.6924C>T (p.Ala2308=)
c.6951C>T (p.Ala2317=)
c.6975C>T (p.Ala2325=)
c.6414C>T (p.Ala2138=)
c.4493C>T
c.2830C>T
c.6888C>T (p.Ala2296=)
n.612C>T
c.6813C>T (p.Ala2271=)
c.6873C>T (p.Ala2291=)
n.842C>T
n.645C>T
c.6828C>T (p.Ala2276=)
c.6987C>T (p.Ala2329=)
c.6972C>T (p.Ala2324=)
c.6927C>T (p.Ala2309=)
c.6909C>T (p.Ala2303=)
c.6906C>T (p.Ala2302=)
c.6891C>T (p.Ala2297=)
c.6864C>T (p.Ala2288=)
c.6849C>T (p.Ala2283=)
c.6870C>T (p.Ala2290=)
c.6846C>T (p.Ala2282=)
 ClinVar dbSNP gnomAD v4
9g.128632253C>ACA375098425SPTAN1c.6925C>A (p.Gln2309Lys)
c.6952C>A (p.Gln2318Lys)
c.6976C>A (p.Gln2326Lys)
c.6415C>A (p.Gln2139Lys)
c.4494C>A
c.2831C>A
c.6889C>A (p.Gln2297Lys)
n.613C>A
c.6814C>A (p.Gln2272Lys)
c.6874C>A (p.Gln2292Lys)
n.843C>A
n.646C>A
c.6829C>A (p.Gln2277Lys)
c.6988C>A (p.Gln2330Lys)
c.6973C>A (p.Gln2325Lys)
c.6928C>A (p.Gln2310Lys)
c.6910C>A (p.Gln2304Lys)
c.6907C>A (p.Gln2303Lys)
c.6892C>A (p.Gln2298Lys)
c.6865C>A (p.Gln2289Lys)
c.6850C>A (p.Gln2284Lys)
c.6871C>A (p.Gln2291Lys)
c.6847C>A (p.Gln2283Lys)
9g.128632253C>GCA375098436SPTAN1c.6925C>G (p.Gln2309Glu)
c.6952C>G (p.Gln2318Glu)
c.6976C>G (p.Gln2326Glu)
c.6415C>G (p.Gln2139Glu)
c.4494C>G
c.2831C>G
c.6889C>G (p.Gln2297Glu)
n.613C>G
c.6814C>G (p.Gln2272Glu)
c.6874C>G (p.Gln2292Glu)
n.843C>G
n.646C>G
c.6829C>G (p.Gln2277Glu)
c.6988C>G (p.Gln2330Glu)
c.6973C>G (p.Gln2325Glu)
c.6928C>G (p.Gln2310Glu)
c.6910C>G (p.Gln2304Glu)
c.6907C>G (p.Gln2303Glu)
c.6892C>G (p.Gln2298Glu)
c.6865C>G (p.Gln2289Glu)
c.6850C>G (p.Gln2284Glu)
c.6871C>G (p.Gln2291Glu)
c.6847C>G (p.Gln2283Glu)
9g.128632253C>TCA375098439SPTAN1c.6925C>T (p.Gln2309Ter)
c.6952C>T (p.Gln2318Ter)
c.6976C>T (p.Gln2326Ter)
c.6415C>T (p.Gln2139Ter)
c.4494C>T
c.2831C>T
c.6889C>T (p.Gln2297Ter)
n.613C>T
c.6814C>T (p.Gln2272Ter)
c.6874C>T (p.Gln2292Ter)
n.843C>T
n.646C>T
c.6829C>T (p.Gln2277Ter)
c.6988C>T (p.Gln2330Ter)
c.6973C>T (p.Gln2325Ter)
c.6928C>T (p.Gln2310Ter)
c.6910C>T (p.Gln2304Ter)
c.6907C>T (p.Gln2303Ter)
c.6892C>T (p.Gln2298Ter)
c.6865C>T (p.Gln2289Ter)
c.6850C>T (p.Gln2284Ter)
c.6871C>T (p.Gln2291Ter)
c.6847C>T (p.Gln2283Ter)
9g.128632254A>CCA375098440SPTAN1c.6926A>C (p.Gln2309Pro)
c.6953A>C (p.Gln2318Pro)
c.6977A>C (p.Gln2326Pro)
c.6416A>C (p.Gln2139Pro)
c.4495A>C
c.2832A>C
c.6890A>C (p.Gln2297Pro)
n.614A>C
c.6815A>C (p.Gln2272Pro)
c.6875A>C (p.Gln2292Pro)
n.844A>C
n.647A>C
c.6830A>C (p.Gln2277Pro)
c.6989A>C (p.Gln2330Pro)
c.6974A>C (p.Gln2325Pro)
c.6929A>C (p.Gln2310Pro)
c.6911A>C (p.Gln2304Pro)
c.6908A>C (p.Gln2303Pro)
c.6893A>C (p.Gln2298Pro)
c.6866A>C (p.Gln2289Pro)
c.6851A>C (p.Gln2284Pro)
c.6872A>C (p.Gln2291Pro)
c.6848A>C (p.Gln2283Pro)
9g.128632254A>GCA375098441SPTAN1c.6926A>G (p.Gln2309Arg)
c.6953A>G (p.Gln2318Arg)
c.6977A>G (p.Gln2326Arg)
c.6416A>G (p.Gln2139Arg)
c.4495A>G
c.2832A>G
c.6890A>G (p.Gln2297Arg)
n.614A>G
c.6815A>G (p.Gln2272Arg)
c.6875A>G (p.Gln2292Arg)
n.844A>G
n.647A>G
c.6830A>G (p.Gln2277Arg)
c.6989A>G (p.Gln2330Arg)
c.6974A>G (p.Gln2325Arg)
c.6929A>G (p.Gln2310Arg)
c.6911A>G (p.Gln2304Arg)
c.6908A>G (p.Gln2303Arg)
c.6893A>G (p.Gln2298Arg)
c.6866A>G (p.Gln2289Arg)
c.6851A>G (p.Gln2284Arg)
c.6872A>G (p.Gln2291Arg)
c.6848A>G (p.Gln2283Arg)
9g.128632254A>TCA375098445SPTAN1c.6926A>T (p.Gln2309Leu)
c.6953A>T (p.Gln2318Leu)
c.6977A>T (p.Gln2326Leu)
c.6416A>T (p.Gln2139Leu)
c.4495A>T
c.2832A>T
c.6890A>T (p.Gln2297Leu)
n.614A>T
c.6815A>T (p.Gln2272Leu)
c.6875A>T (p.Gln2292Leu)
n.844A>T
n.647A>T
c.6830A>T (p.Gln2277Leu)
c.6989A>T (p.Gln2330Leu)
c.6974A>T (p.Gln2325Leu)
c.6929A>T (p.Gln2310Leu)
c.6911A>T (p.Gln2304Leu)
c.6908A>T (p.Gln2303Leu)
c.6893A>T (p.Gln2298Leu)
c.6866A>T (p.Gln2289Leu)
c.6851A>T (p.Gln2284Leu)
c.6872A>T (p.Gln2291Leu)
c.6848A>T (p.Gln2283Leu)
9g.128632255G>ACA200412398SPTAN1c.6927G>A (p.Gln2309=)
c.6954G>A (p.Gln2318=)
c.6978G>A (p.Gln2326=)
c.6417G>A (p.Gln2139=)
c.4496G>A
c.2833G>A
c.6891G>A (p.Gln2297=)
n.615G>A
c.6816G>A (p.Gln2272=)
c.6876G>A (p.Gln2292=)
n.845G>A
n.648G>A
c.6831G>A (p.Gln2277=)
c.6990G>A (p.Gln2330=)
c.6975G>A (p.Gln2325=)
c.6930G>A (p.Gln2310=)
c.6912G>A (p.Gln2304=)
c.6909G>A (p.Gln2303=)
c.6894G>A (p.Gln2298=)
c.6867G>A (p.Gln2289=)
c.6852G>A (p.Gln2284=)
c.6873G>A (p.Gln2291=)
c.6849G>A (p.Gln2283=)
 dbSNP
9g.128632255G>CCA375098451SPTAN1c.6927G>C (p.Gln2309His)
c.6954G>C (p.Gln2318His)
c.6978G>C (p.Gln2326His)
c.6417G>C (p.Gln2139His)
c.4496G>C
c.2833G>C
c.6891G>C (p.Gln2297His)
n.615G>C
c.6816G>C (p.Gln2272His)
c.6876G>C (p.Gln2292His)
n.845G>C
n.648G>C
c.6831G>C (p.Gln2277His)
c.6990G>C (p.Gln2330His)
c.6975G>C (p.Gln2325His)
c.6930G>C (p.Gln2310His)
c.6912G>C (p.Gln2304His)
c.6909G>C (p.Gln2303His)
c.6894G>C (p.Gln2298His)
c.6867G>C (p.Gln2289His)
c.6852G>C (p.Gln2284His)
c.6873G>C (p.Gln2291His)
c.6849G>C (p.Gln2283His)
9g.128632255G=CA1880371259SPTAN1c.6927G= (p.Gln2309=)
c.6954G= (p.Gln2318=)
c.6978G= (p.Gln2326=)
c.6417G= (p.Gln2139=)
c.4496G=
c.2833G=
c.6891G= (p.Gln2297=)
n.615G=
c.6816G= (p.Gln2272=)
c.6876G= (p.Gln2292=)
n.845G=
n.648G=
c.6831G= (p.Gln2277=)
c.6990G= (p.Gln2330=)
c.6975G= (p.Gln2325=)
c.6930G= (p.Gln2310=)
c.6912G= (p.Gln2304=)
c.6909G= (p.Gln2303=)
c.6894G= (p.Gln2298=)
c.6867G= (p.Gln2289=)
c.6852G= (p.Gln2284=)
c.6873G= (p.Gln2291=)
c.6849G= (p.Gln2283=)
9g.128632255G>TCA375098454SPTAN1c.6927G>T (p.Gln2309His)
c.6954G>T (p.Gln2318His)
c.6978G>T (p.Gln2326His)
c.6417G>T (p.Gln2139His)
c.4496G>T
c.2833G>T
c.6891G>T (p.Gln2297His)
n.615G>T
c.6816G>T (p.Gln2272His)
c.6876G>T (p.Gln2292His)
n.845G>T
n.648G>T
c.6831G>T (p.Gln2277His)
c.6990G>T (p.Gln2330His)
c.6975G>T (p.Gln2325His)
c.6930G>T (p.Gln2310His)
c.6912G>T (p.Gln2304His)
c.6909G>T (p.Gln2303His)
c.6894G>T (p.Gln2298His)
c.6867G>T (p.Gln2289His)
c.6852G>T (p.Gln2284His)
c.6873G>T (p.Gln2291His)
c.6849G>T (p.Gln2283His)
9g.128632256C>ACA375098461SPTAN1c.6928C>A (p.Gln2310Lys)
c.6955C>A (p.Gln2319Lys)
c.6979C>A (p.Gln2327Lys)
c.6418C>A (p.Gln2140Lys)
c.4497C>A
c.2834C>A
c.6892C>A (p.Gln2298Lys)
n.616C>A
c.6817C>A (p.Gln2273Lys)
c.6877C>A (p.Gln2293Lys)
n.846C>A
n.649C>A
c.6832C>A (p.Gln2278Lys)
c.6991C>A (p.Gln2331Lys)
c.6976C>A (p.Gln2326Lys)
c.6931C>A (p.Gln2311Lys)
c.6913C>A (p.Gln2305Lys)
c.6910C>A (p.Gln2304Lys)
c.6895C>A (p.Gln2299Lys)
c.6868C>A (p.Gln2290Lys)
c.6853C>A (p.Gln2285Lys)
c.6874C>A (p.Gln2292Lys)
c.6850C>A (p.Gln2284Lys)
9g.128632256C>GCA375098464SPTAN1c.6928C>G (p.Gln2310Glu)
c.6955C>G (p.Gln2319Glu)
c.6979C>G (p.Gln2327Glu)
c.6418C>G (p.Gln2140Glu)
c.4497C>G
c.2834C>G
c.6892C>G (p.Gln2298Glu)
n.616C>G
c.6817C>G (p.Gln2273Glu)
c.6877C>G (p.Gln2293Glu)
n.846C>G
n.649C>G
c.6832C>G (p.Gln2278Glu)
c.6991C>G (p.Gln2331Glu)
c.6976C>G (p.Gln2326Glu)
c.6931C>G (p.Gln2311Glu)
c.6913C>G (p.Gln2305Glu)
c.6910C>G (p.Gln2304Glu)
c.6895C>G (p.Gln2299Glu)
c.6868C>G (p.Gln2290Glu)
c.6853C>G (p.Gln2285Glu)
c.6874C>G (p.Gln2292Glu)
c.6850C>G (p.Gln2284Glu)
 ClinVar gnomAD v4
9g.128632256C>TCA375098466SPTAN1c.6928C>T (p.Gln2310Ter)
c.6955C>T (p.Gln2319Ter)
c.6979C>T (p.Gln2327Ter)
c.6418C>T (p.Gln2140Ter)
c.4497C>T
c.2834C>T
c.6892C>T (p.Gln2298Ter)
n.616C>T
c.6817C>T (p.Gln2273Ter)
c.6877C>T (p.Gln2293Ter)
n.846C>T
n.649C>T
c.6832C>T (p.Gln2278Ter)
c.6991C>T (p.Gln2331Ter)
c.6976C>T (p.Gln2326Ter)
c.6931C>T (p.Gln2311Ter)
c.6913C>T (p.Gln2305Ter)
c.6910C>T (p.Gln2304Ter)
c.6895C>T (p.Gln2299Ter)
c.6868C>T (p.Gln2290Ter)
c.6853C>T (p.Gln2285Ter)
c.6874C>T (p.Gln2292Ter)
c.6850C>T (p.Gln2284Ter)
9g.128632257A>CCA375098468SPTAN1c.6929A>C (p.Gln2310Pro)
c.6956A>C (p.Gln2319Pro)
c.6980A>C (p.Gln2327Pro)
c.6419A>C (p.Gln2140Pro)
c.4498A>C
c.2835A>C
c.6893A>C (p.Gln2298Pro)
n.617A>C
c.6818A>C (p.Gln2273Pro)
c.6878A>C (p.Gln2293Pro)
n.847A>C
n.650A>C
c.6833A>C (p.Gln2278Pro)
c.6992A>C (p.Gln2331Pro)
c.6977A>C (p.Gln2326Pro)
c.6932A>C (p.Gln2311Pro)
c.6914A>C (p.Gln2305Pro)
c.6911A>C (p.Gln2304Pro)
c.6896A>C (p.Gln2299Pro)
c.6869A>C (p.Gln2290Pro)
c.6854A>C (p.Gln2285Pro)
c.6875A>C (p.Gln2292Pro)
c.6851A>C (p.Gln2284Pro)
9g.128632257A>GCA375098469SPTAN1c.6929A>G (p.Gln2310Arg)
c.6956A>G (p.Gln2319Arg)
c.6980A>G (p.Gln2327Arg)
c.6419A>G (p.Gln2140Arg)
c.4498A>G
c.2835A>G
c.6893A>G (p.Gln2298Arg)
n.617A>G
c.6818A>G (p.Gln2273Arg)
c.6878A>G (p.Gln2293Arg)
n.847A>G
n.650A>G
c.6833A>G (p.Gln2278Arg)
c.6992A>G (p.Gln2331Arg)
c.6977A>G (p.Gln2326Arg)
c.6932A>G (p.Gln2311Arg)
c.6914A>G (p.Gln2305Arg)
c.6911A>G (p.Gln2304Arg)
c.6896A>G (p.Gln2299Arg)
c.6869A>G (p.Gln2290Arg)
c.6854A>G (p.Gln2285Arg)
c.6875A>G (p.Gln2292Arg)
c.6851A>G (p.Gln2284Arg)
9g.128632257A>TCA375098473SPTAN1c.6929A>T (p.Gln2310Leu)
c.6956A>T (p.Gln2319Leu)
c.6980A>T (p.Gln2327Leu)
c.6419A>T (p.Gln2140Leu)
c.4498A>T
c.2835A>T
c.6893A>T (p.Gln2298Leu)
n.617A>T
c.6818A>T (p.Gln2273Leu)
c.6878A>T (p.Gln2293Leu)
n.847A>T
n.650A>T
c.6833A>T (p.Gln2278Leu)
c.6992A>T (p.Gln2331Leu)
c.6977A>T (p.Gln2326Leu)
c.6932A>T (p.Gln2311Leu)
c.6914A>T (p.Gln2305Leu)
c.6911A>T (p.Gln2304Leu)
c.6896A>T (p.Gln2299Leu)
c.6869A>T (p.Gln2290Leu)
c.6854A>T (p.Gln2285Leu)
c.6875A>T (p.Gln2292Leu)
c.6851A>T (p.Gln2284Leu)
9g.128632258G>ACA467304849SPTAN1c.6930G>A (p.Gln2310=)
c.6957G>A (p.Gln2319=)
c.6981G>A (p.Gln2327=)
c.6420G>A (p.Gln2140=)
c.4499G>A
c.2836G>A
c.6894G>A (p.Gln2298=)
n.618G>A
c.6819G>A (p.Gln2273=)
c.6879G>A (p.Gln2293=)
n.848G>A
n.651G>A
c.6834G>A (p.Gln2278=)
c.6993G>A (p.Gln2331=)
c.6978G>A (p.Gln2326=)
c.6933G>A (p.Gln2311=)
c.6915G>A (p.Gln2305=)
c.6912G>A (p.Gln2304=)
c.6897G>A (p.Gln2299=)
c.6870G>A (p.Gln2290=)
c.6855G>A (p.Gln2285=)
c.6876G>A (p.Gln2292=)
c.6852G>A (p.Gln2284=)
 dbSNP gnomAD v4
9g.128632258G>CCA375098481SPTAN1c.6930G>C (p.Gln2310His)
c.6957G>C (p.Gln2319His)
c.6981G>C (p.Gln2327His)
c.6420G>C (p.Gln2140His)
c.4499G>C
c.2836G>C
c.6894G>C (p.Gln2298His)
n.618G>C
c.6819G>C (p.Gln2273His)
c.6879G>C (p.Gln2293His)
n.848G>C
n.651G>C
c.6834G>C (p.Gln2278His)
c.6993G>C (p.Gln2331His)
c.6978G>C (p.Gln2326His)
c.6933G>C (p.Gln2311His)
c.6915G>C (p.Gln2305His)
c.6912G>C (p.Gln2304His)
c.6897G>C (p.Gln2299His)
c.6870G>C (p.Gln2290His)
c.6855G>C (p.Gln2285His)
c.6876G>C (p.Gln2292His)
c.6852G>C (p.Gln2284His)
9g.128632258G=CA1880371260SPTAN1c.6930G= (p.Gln2310=)
c.6957G= (p.Gln2319=)
c.6981G= (p.Gln2327=)
c.6420G= (p.Gln2140=)
c.4499G=
c.2836G=
c.6894G= (p.Gln2298=)
n.618G=
c.6819G= (p.Gln2273=)
c.6879G= (p.Gln2293=)
n.848G=
n.651G=
c.6834G= (p.Gln2278=)
c.6993G= (p.Gln2331=)
c.6978G= (p.Gln2326=)
c.6933G= (p.Gln2311=)
c.6915G= (p.Gln2305=)
c.6912G= (p.Gln2304=)
c.6897G= (p.Gln2299=)
c.6870G= (p.Gln2290=)
c.6855G= (p.Gln2285=)
c.6876G= (p.Gln2292=)
c.6852G= (p.Gln2284=)
9g.128632258G>TCA375098478SPTAN1c.6930G>T (p.Gln2310His)
c.6957G>T (p.Gln2319His)
c.6981G>T (p.Gln2327His)
c.6420G>T (p.Gln2140His)
c.4499G>T
c.2836G>T
c.6894G>T (p.Gln2298His)
n.618G>T
c.6819G>T (p.Gln2273His)
c.6879G>T (p.Gln2293His)
n.848G>T
n.651G>T
c.6834G>T (p.Gln2278His)
c.6993G>T (p.Gln2331His)
c.6978G>T (p.Gln2326His)
c.6933G>T (p.Gln2311His)
c.6915G>T (p.Gln2305His)
c.6912G>T (p.Gln2304His)
c.6897G>T (p.Gln2299His)
c.6870G>T (p.Gln2290His)
c.6855G>T (p.Gln2285His)
c.6876G>T (p.Gln2292His)
c.6852G>T (p.Gln2284His)
9g.128632259T>ACA375098483SPTAN1c.6931T>A (p.Trp2311Arg)
c.6958T>A (p.Trp2320Arg)
c.6982T>A (p.Trp2328Arg)
c.6421T>A (p.Trp2141Arg)
c.4500T>A
c.2837T>A
c.6895T>A (p.Trp2299Arg)
n.619T>A
c.6820T>A (p.Trp2274Arg)
c.6880T>A (p.Trp2294Arg)
n.849T>A
n.652T>A
c.6835T>A (p.Trp2279Arg)
c.6994T>A (p.Trp2332Arg)
c.6979T>A (p.Trp2327Arg)
c.6934T>A (p.Trp2312Arg)
c.6916T>A (p.Trp2306Arg)
c.6913T>A (p.Trp2305Arg)
c.6898T>A (p.Trp2300Arg)
c.6871T>A (p.Trp2291Arg)
c.6856T>A (p.Trp2286Arg)
c.6877T>A (p.Trp2293Arg)
c.6853T>A (p.Trp2285Arg)
9g.128632259T>CCA375098491SPTAN1c.6931T>C (p.Trp2311Arg)
c.6958T>C (p.Trp2320Arg)
c.6982T>C (p.Trp2328Arg)
c.6421T>C (p.Trp2141Arg)
c.4500T>C
c.2837T>C
c.6895T>C (p.Trp2299Arg)
n.619T>C
c.6820T>C (p.Trp2274Arg)
c.6880T>C (p.Trp2294Arg)
n.849T>C
n.652T>C
c.6835T>C (p.Trp2279Arg)
c.6994T>C (p.Trp2332Arg)
c.6979T>C (p.Trp2327Arg)
c.6934T>C (p.Trp2312Arg)
c.6916T>C (p.Trp2306Arg)
c.6913T>C (p.Trp2305Arg)
c.6898T>C (p.Trp2300Arg)
c.6871T>C (p.Trp2291Arg)
c.6856T>C (p.Trp2286Arg)
c.6877T>C (p.Trp2293Arg)
c.6853T>C (p.Trp2285Arg)
 ClinVar dbSNP
9g.128632259T>GCA375098492SPTAN1c.6931T>G (p.Trp2311Gly)
c.6958T>G (p.Trp2320Gly)
c.6982T>G (p.Trp2328Gly)
c.6421T>G (p.Trp2141Gly)
c.4500T>G
c.2837T>G
c.6895T>G (p.Trp2299Gly)
n.619T>G
c.6820T>G (p.Trp2274Gly)
c.6880T>G (p.Trp2294Gly)
n.849T>G
n.652T>G
c.6835T>G (p.Trp2279Gly)
c.6994T>G (p.Trp2332Gly)
c.6979T>G (p.Trp2327Gly)
c.6934T>G (p.Trp2312Gly)
c.6916T>G (p.Trp2306Gly)
c.6913T>G (p.Trp2305Gly)
c.6898T>G (p.Trp2300Gly)
c.6871T>G (p.Trp2291Gly)
c.6856T>G (p.Trp2286Gly)
c.6877T>G (p.Trp2293Gly)
c.6853T>G (p.Trp2285Gly)
9g.128632260G>ACA375098495SPTAN1c.6932G>A (p.Trp2311Ter)
c.6959G>A (p.Trp2320Ter)
c.6983G>A (p.Trp2328Ter)
c.6422G>A (p.Trp2141Ter)
c.4501G>A
c.2838G>A
c.6896G>A (p.Trp2299Ter)
n.620G>A
c.6821G>A (p.Trp2274Ter)
c.6881G>A (p.Trp2294Ter)
n.850G>A
n.653G>A
c.6836G>A (p.Trp2279Ter)
c.6995G>A (p.Trp2332Ter)
c.6980G>A (p.Trp2327Ter)
c.6935G>A (p.Trp2312Ter)
c.6917G>A (p.Trp2306Ter)
c.6914G>A (p.Trp2305Ter)
c.6899G>A (p.Trp2300Ter)
c.6872G>A (p.Trp2291Ter)
c.6857G>A (p.Trp2286Ter)
c.6878G>A (p.Trp2293Ter)
c.6854G>A (p.Trp2285Ter)
9g.128632260G>CCA375098496SPTAN1c.6932G>C (p.Trp2311Ser)
c.6959G>C (p.Trp2320Ser)
c.6983G>C (p.Trp2328Ser)
c.6422G>C (p.Trp2141Ser)
c.4501G>C
c.2838G>C
c.6896G>C (p.Trp2299Ser)
n.620G>C
c.6821G>C (p.Trp2274Ser)
c.6881G>C (p.Trp2294Ser)
n.850G>C
n.653G>C
c.6836G>C (p.Trp2279Ser)
c.6995G>C (p.Trp2332Ser)
c.6980G>C (p.Trp2327Ser)
c.6935G>C (p.Trp2312Ser)
c.6917G>C (p.Trp2306Ser)
c.6914G>C (p.Trp2305Ser)
c.6899G>C (p.Trp2300Ser)
c.6872G>C (p.Trp2291Ser)
c.6857G>C (p.Trp2286Ser)
c.6878G>C (p.Trp2293Ser)
c.6854G>C (p.Trp2285Ser)
9g.128632260G>TCA375098499SPTAN1c.6932G>T (p.Trp2311Leu)
c.6959G>T (p.Trp2320Leu)
c.6983G>T (p.Trp2328Leu)
c.6422G>T (p.Trp2141Leu)
c.4501G>T
c.2838G>T
c.6896G>T (p.Trp2299Leu)
n.620G>T
c.6821G>T (p.Trp2274Leu)
c.6881G>T (p.Trp2294Leu)
n.850G>T
n.653G>T
c.6836G>T (p.Trp2279Leu)
c.6995G>T (p.Trp2332Leu)
c.6980G>T (p.Trp2327Leu)
c.6935G>T (p.Trp2312Leu)
c.6917G>T (p.Trp2306Leu)
c.6914G>T (p.Trp2305Leu)
c.6899G>T (p.Trp2300Leu)
c.6872G>T (p.Trp2291Leu)
c.6857G>T (p.Trp2286Leu)
c.6878G>T (p.Trp2293Leu)
c.6854G>T (p.Trp2285Leu)
9g.128632262delCA2691941339SPTAN1c.6934del (p.Asp2312ThrfsTer26)
c.6961del (p.Asp2321ThrfsTer26)
c.6985del (p.Asp2329ThrfsTer26)
c.6424del (p.Asp2142ThrfsTer26)
c.4503del
c.2840del
c.6898del (p.Asp2300ThrfsTer26)
n.622del
c.6823del (p.Asp2275ThrfsTer26)
c.6883del (p.Asp2295ThrfsTer26)
n.852del
n.655del
c.6838del (p.Asp2280ThrfsTer26)
c.6997del (p.Asp2333ThrfsTer26)
c.6982del (p.Asp2328ThrfsTer26)
c.6937del (p.Asp2313ThrfsTer26)
c.6919del (p.Asp2307ThrfsTer26)
c.6916del (p.Asp2306ThrfsTer26)
c.6901del (p.Asp2301ThrfsTer26)
c.6874del (p.Asp2292ThrfsTer26)
c.6859del (p.Asp2287ThrfsTer26)
c.6880del (p.Asp2294ThrfsTer26)
c.6856del (p.Asp2286ThrfsTer26)
 gnomAD v4
9g.128632260_128632268delCA2580079751SPTAN1c.6932_6940del (p.Trp2311_Gln2313del)
c.6959_6967del (p.Trp2320_Gln2322del)
c.6983_6991del (p.Trp2328_Gln2330del)
c.6422_6430del (p.Trp2141_Gln2143del)
c.4501_4509del
c.2838_2846del
c.6896_6904del (p.Trp2299_Gln2301del)
n.620_628del
c.6821_6829del (p.Trp2274_Gln2276del)
c.6881_6889del (p.Trp2294_Gln2296del)
n.850_858del
n.653_661del
c.6836_6844del (p.Trp2279_Gln2281del)
c.6995_7003del (p.Trp2332_Gln2334del)
c.6980_6988del (p.Trp2327_Gln2329del)
c.6935_6943del (p.Trp2312_Gln2314del)
c.6917_6925del (p.Trp2306_Gln2308del)
c.6914_6922del (p.Trp2305_Gln2307del)
c.6899_6907del (p.Trp2300_Gln2302del)
c.6872_6880del (p.Trp2291_Gln2293del)
c.6857_6865del (p.Trp2286_Gln2288del)
c.6878_6886del (p.Trp2293_Gln2295del)
c.6854_6862del (p.Trp2285_Gln2287del)
 ClinVar
9g.128632260_128632269delinsGGGACCAGCTCA1880371261SPTAN1c.6932_6941delinsGGGACCAGCT (p.Trp2311=)
c.6959_6968delinsGGGACCAGCT (p.Trp2320=)
c.6983_6992delinsGGGACCAGCT (p.Trp2328=)
c.6422_6431delinsGGGACCAGCT (p.Trp2141=)
c.4501_4510delinsGGGACCAGCT
c.2838_2847delinsGGGACCAGCT
c.6896_6905delinsGGGACCAGCT (p.Trp2299=)
n.620_629delinsGGGACCAGCT
c.6821_6830delinsGGGACCAGCT (p.Trp2274=)
c.6881_6890delinsGGGACCAGCT (p.Trp2294=)
n.850_859delinsGGGACCAGCT
n.653_662delinsGGGACCAGCT
c.6836_6845delinsGGGACCAGCT (p.Trp2279=)
c.6995_7004delinsGGGACCAGCT (p.Trp2332=)
c.6980_6989delinsGGGACCAGCT (p.Trp2327=)
c.6935_6944delinsGGGACCAGCT (p.Trp2312=)
c.6917_6926delinsGGGACCAGCT (p.Trp2306=)
c.6914_6923delinsGGGACCAGCT (p.Trp2305=)
c.6899_6908delinsGGGACCAGCT (p.Trp2300=)
c.6872_6881delinsGGGACCAGCT (p.Trp2291=)
c.6857_6866delinsGGGACCAGCT (p.Trp2286=)
c.6878_6887delinsGGGACCAGCT (p.Trp2293=)
c.6854_6863delinsGGGACCAGCT (p.Trp2285=)
9g.128632261G>ACA375098509SPTAN1c.6933G>A (p.Trp2311Ter)
c.6960G>A (p.Trp2320Ter)
c.6984G>A (p.Trp2328Ter)
c.6423G>A (p.Trp2141Ter)
c.4502G>A
c.2839G>A
c.6897G>A (p.Trp2299Ter)
n.621G>A
c.6822G>A (p.Trp2274Ter)
c.6882G>A (p.Trp2294Ter)
n.851G>A
n.654G>A
c.6837G>A (p.Trp2279Ter)
c.6996G>A (p.Trp2332Ter)
c.6981G>A (p.Trp2327Ter)
c.6936G>A (p.Trp2312Ter)
c.6918G>A (p.Trp2306Ter)
c.6915G>A (p.Trp2305Ter)
c.6900G>A (p.Trp2300Ter)
c.6873G>A (p.Trp2291Ter)
c.6858G>A (p.Trp2286Ter)
c.6879G>A (p.Trp2293Ter)
c.6855G>A (p.Trp2285Ter)
9g.128632261G>CCA375098512SPTAN1c.6933G>C (p.Trp2311Cys)
c.6960G>C (p.Trp2320Cys)
c.6984G>C (p.Trp2328Cys)
c.6423G>C (p.Trp2141Cys)
c.4502G>C
c.2839G>C
c.6897G>C (p.Trp2299Cys)
n.621G>C
c.6822G>C (p.Trp2274Cys)
c.6882G>C (p.Trp2294Cys)
n.851G>C
n.654G>C
c.6837G>C (p.Trp2279Cys)
c.6996G>C (p.Trp2332Cys)
c.6981G>C (p.Trp2327Cys)
c.6936G>C (p.Trp2312Cys)
c.6918G>C (p.Trp2306Cys)
c.6915G>C (p.Trp2305Cys)
c.6900G>C (p.Trp2300Cys)
c.6873G>C (p.Trp2291Cys)
c.6858G>C (p.Trp2286Cys)
c.6879G>C (p.Trp2293Cys)
c.6855G>C (p.Trp2285Cys)
9g.128632261G>TCA375098513SPTAN1c.6933G>T (p.Trp2311Cys)
c.6960G>T (p.Trp2320Cys)
c.6984G>T (p.Trp2328Cys)
c.6423G>T (p.Trp2141Cys)
c.4502G>T
c.2839G>T
c.6897G>T (p.Trp2299Cys)
n.621G>T
c.6822G>T (p.Trp2274Cys)
c.6882G>T (p.Trp2294Cys)
n.851G>T
n.654G>T
c.6837G>T (p.Trp2279Cys)
c.6996G>T (p.Trp2332Cys)
c.6981G>T (p.Trp2327Cys)
c.6936G>T (p.Trp2312Cys)
c.6918G>T (p.Trp2306Cys)
c.6915G>T (p.Trp2305Cys)
c.6900G>T (p.Trp2300Cys)
c.6873G>T (p.Trp2291Cys)
c.6858G>T (p.Trp2286Cys)
c.6879G>T (p.Trp2293Cys)
c.6855G>T (p.Trp2285Cys)
9g.128632272_128632280dupCA173597SPTAN1c.6944_6952dup (p.Leu2317_Gly2318insAspGlnLeu)
c.6971_6979dup (p.Leu2326_Gly2327insAspGlnLeu)
c.6995_7003dup (p.Leu2334_Gly2335insAspGlnLeu)
c.6434_6442dup (p.Leu2147_Gly2148insAspGlnLeu)
c.4513_4521dup
c.2850_2858dup
c.6908_6916dup (p.Leu2305_Gly2306insAspGlnLeu)
n.632_640dup
c.6833_6841dup (p.Leu2280_Gly2281insAspGlnLeu)
c.6893_6901dup (p.Leu2300_Gly2301insAspGlnLeu)
n.862_870dup
n.665_673dup
c.6848_6856dup (p.Leu2285_Gly2286insAspGlnLeu)
c.7007_7015dup (p.Leu2338_Gly2339insAspGlnLeu)
c.6992_7000dup (p.Leu2333_Gly2334insAspGlnLeu)
c.6947_6955dup (p.Leu2318_Gly2319insAspGlnLeu)
c.6929_6937dup (p.Leu2312_Gly2313insAspGlnLeu)
c.6926_6934dup (p.Leu2311_Gly2312insAspGlnLeu)
c.6911_6919dup (p.Leu2306_Gly2307insAspGlnLeu)
c.6884_6892dup (p.Leu2297_Gly2298insAspGlnLeu)
c.6869_6877dup (p.Leu2292_Gly2293insAspGlnLeu)
c.6890_6898dup (p.Leu2299_Gly2300insAspGlnLeu)
c.6866_6874dup (p.Leu2291_Gly2292insAspGlnLeu)
 ClinVar dbSNP
9g.128632272_128632280delCA318788SPTAN1c.6944_6952del (p.Asp2315_Leu2317del)
c.6971_6979del (p.Asp2324_Leu2326del)
c.6995_7003del (p.Asp2332_Leu2334del)
c.6434_6442del (p.Asp2145_Leu2147del)
c.4513_4521del
c.2850_2858del
c.6908_6916del (p.Asp2303_Leu2305del)
n.632_640del
c.6833_6841del (p.Asp2278_Leu2280del)
c.6893_6901del (p.Asp2298_Leu2300del)
n.862_870del
n.665_673del
c.6848_6856del (p.Asp2283_Leu2285del)
c.7007_7015del (p.Asp2336_Leu2338del)
c.6992_7000del (p.Asp2331_Leu2333del)
c.6947_6955del (p.Asp2316_Leu2318del)
c.6929_6937del (p.Asp2310_Leu2312del)
c.6926_6934del (p.Asp2309_Leu2311del)
c.6911_6919del (p.Asp2304_Leu2306del)
c.6884_6892del (p.Asp2295_Leu2297del)
c.6869_6877del (p.Asp2290_Leu2292del)
c.6890_6898del (p.Asp2297_Leu2299del)
c.6866_6874del (p.Asp2289_Leu2291del)
 ClinVar dbSNP
9g.128632262G>ACA375098525SPTAN1c.6934G>A (p.Asp2312Asn)
c.6961G>A (p.Asp2321Asn)
c.6985G>A (p.Asp2329Asn)
c.6424G>A (p.Asp2142Asn)
c.4503G>A
c.2840G>A
c.6898G>A (p.Asp2300Asn)
n.622G>A
c.6823G>A (p.Asp2275Asn)
c.6883G>A (p.Asp2295Asn)
n.852G>A
n.655G>A
c.6838G>A (p.Asp2280Asn)
c.6997G>A (p.Asp2333Asn)
c.6982G>A (p.Asp2328Asn)
c.6937G>A (p.Asp2313Asn)
c.6919G>A (p.Asp2307Asn)
c.6916G>A (p.Asp2306Asn)
c.6901G>A (p.Asp2301Asn)
c.6874G>A (p.Asp2292Asn)
c.6859G>A (p.Asp2287Asn)
c.6880G>A (p.Asp2294Asn)
c.6856G>A (p.Asp2286Asn)
9g.128632262G>CCA375098550SPTAN1c.6934G>C (p.Asp2312His)
c.6961G>C (p.Asp2321His)
c.6985G>C (p.Asp2329His)
c.6424G>C (p.Asp2142His)
c.4503G>C
c.2840G>C
c.6898G>C (p.Asp2300His)
n.622G>C
c.6823G>C (p.Asp2275His)
c.6883G>C (p.Asp2295His)
n.852G>C
n.655G>C
c.6838G>C (p.Asp2280His)
c.6997G>C (p.Asp2333His)
c.6982G>C (p.Asp2328His)
c.6937G>C (p.Asp2313His)
c.6919G>C (p.Asp2307His)
c.6916G>C (p.Asp2306His)
c.6901G>C (p.Asp2301His)
c.6874G>C (p.Asp2292His)
c.6859G>C (p.Asp2287His)
c.6880G>C (p.Asp2294His)
c.6856G>C (p.Asp2286His)
9g.128632262G>TCA375098553SPTAN1c.6934G>T (p.Asp2312Tyr)
c.6961G>T (p.Asp2321Tyr)
c.6985G>T (p.Asp2329Tyr)
c.6424G>T (p.Asp2142Tyr)
c.4503G>T
c.2840G>T
c.6898G>T (p.Asp2300Tyr)
n.622G>T
c.6823G>T (p.Asp2275Tyr)
c.6883G>T (p.Asp2295Tyr)
n.852G>T
n.655G>T
c.6838G>T (p.Asp2280Tyr)
c.6997G>T (p.Asp2333Tyr)
c.6982G>T (p.Asp2328Tyr)
c.6937G>T (p.Asp2313Tyr)
c.6919G>T (p.Asp2307Tyr)
c.6916G>T (p.Asp2306Tyr)
c.6901G>T (p.Asp2301Tyr)
c.6874G>T (p.Asp2292Tyr)
c.6859G>T (p.Asp2287Tyr)
c.6880G>T (p.Asp2294Tyr)
c.6856G>T (p.Asp2286Tyr)
 gnomAD v4
9g.128632263A=CA1880371262SPTAN1c.6935A= (p.Asp2312=)
c.6962A= (p.Asp2321=)
c.6986A= (p.Asp2329=)
c.6425A= (p.Asp2142=)
c.4504A=
c.2841A=
c.6899A= (p.Asp2300=)
n.623A=
c.6824A= (p.Asp2275=)
c.6884A= (p.Asp2295=)
n.853A=
n.656A=
c.6839A= (p.Asp2280=)
c.6998A= (p.Asp2333=)
c.6983A= (p.Asp2328=)
c.6938A= (p.Asp2313=)
c.6920A= (p.Asp2307=)
c.6917A= (p.Asp2306=)
c.6902A= (p.Asp2301=)
c.6875A= (p.Asp2292=)
c.6860A= (p.Asp2287=)
c.6881A= (p.Asp2294=)
c.6857A= (p.Asp2286=)
9g.128632263A>CCA375098562SPTAN1c.6935A>C (p.Asp2312Ala)
c.6962A>C (p.Asp2321Ala)
c.6986A>C (p.Asp2329Ala)
c.6425A>C (p.Asp2142Ala)
c.4504A>C
c.2841A>C
c.6899A>C (p.Asp2300Ala)
n.623A>C
c.6824A>C (p.Asp2275Ala)
c.6884A>C (p.Asp2295Ala)
n.853A>C
n.656A>C
c.6839A>C (p.Asp2280Ala)
c.6998A>C (p.Asp2333Ala)
c.6983A>C (p.Asp2328Ala)
c.6938A>C (p.Asp2313Ala)
c.6920A>C (p.Asp2307Ala)
c.6917A>C (p.Asp2306Ala)
c.6902A>C (p.Asp2301Ala)
c.6875A>C (p.Asp2292Ala)
c.6860A>C (p.Asp2287Ala)
c.6881A>C (p.Asp2294Ala)
c.6857A>C (p.Asp2286Ala)
9g.128632263A>GCA375098558SPTAN1c.6935A>G (p.Asp2312Gly)
c.6962A>G (p.Asp2321Gly)
c.6986A>G (p.Asp2329Gly)
c.6425A>G (p.Asp2142Gly)
c.4504A>G
c.2841A>G
c.6899A>G (p.Asp2300Gly)
n.623A>G
c.6824A>G (p.Asp2275Gly)
c.6884A>G (p.Asp2295Gly)
n.853A>G
n.656A>G
c.6839A>G (p.Asp2280Gly)
c.6998A>G (p.Asp2333Gly)
c.6983A>G (p.Asp2328Gly)
c.6938A>G (p.Asp2313Gly)
c.6920A>G (p.Asp2307Gly)
c.6917A>G (p.Asp2306Gly)
c.6902A>G (p.Asp2301Gly)
c.6875A>G (p.Asp2292Gly)
c.6860A>G (p.Asp2287Gly)
c.6881A>G (p.Asp2294Gly)
c.6857A>G (p.Asp2286Gly)
9g.128632263A>TCA318747SPTAN1c.6935A>T (p.Asp2312Val)
c.6962A>T (p.Asp2321Val)
c.6986A>T (p.Asp2329Val)
c.6425A>T (p.Asp2142Val)
c.4504A>T
c.2841A>T
c.6899A>T (p.Asp2300Val)
n.623A>T
c.6824A>T (p.Asp2275Val)
c.6884A>T (p.Asp2295Val)
n.853A>T
n.656A>T
c.6839A>T (p.Asp2280Val)
c.6998A>T (p.Asp2333Val)
c.6983A>T (p.Asp2328Val)
c.6938A>T (p.Asp2313Val)
c.6920A>T (p.Asp2307Val)
c.6917A>T (p.Asp2306Val)
c.6902A>T (p.Asp2301Val)
c.6875A>T (p.Asp2292Val)
c.6860A>T (p.Asp2287Val)
c.6881A>T (p.Asp2294Val)
c.6857A>T (p.Asp2286Val)
 ClinVar dbSNP
9g.128632264C>ACA375098565SPTAN1c.6936C>A (p.Asp2312Glu)
c.6963C>A (p.Asp2321Glu)
c.6987C>A (p.Asp2329Glu)
c.6426C>A (p.Asp2142Glu)
c.4505C>A
c.2842C>A
c.6900C>A (p.Asp2300Glu)
n.624C>A
c.6825C>A (p.Asp2275Glu)
c.6885C>A (p.Asp2295Glu)
n.854C>A
n.657C>A
c.6840C>A (p.Asp2280Glu)
c.6999C>A (p.Asp2333Glu)
c.6984C>A (p.Asp2328Glu)
c.6939C>A (p.Asp2313Glu)
c.6921C>A (p.Asp2307Glu)
c.6918C>A (p.Asp2306Glu)
c.6903C>A (p.Asp2301Glu)
c.6876C>A (p.Asp2292Glu)
c.6861C>A (p.Asp2287Glu)
c.6882C>A (p.Asp2294Glu)
c.6858C>A (p.Asp2286Glu)
9g.128632264C>GCA375098563SPTAN1c.6936C>G (p.Asp2312Glu)
c.6963C>G (p.Asp2321Glu)
c.6987C>G (p.Asp2329Glu)
c.6426C>G (p.Asp2142Glu)
c.4505C>G
c.2842C>G
c.6900C>G (p.Asp2300Glu)
n.624C>G
c.6825C>G (p.Asp2275Glu)
c.6885C>G (p.Asp2295Glu)
n.854C>G
n.657C>G
c.6840C>G (p.Asp2280Glu)
c.6999C>G (p.Asp2333Glu)
c.6984C>G (p.Asp2328Glu)
c.6939C>G (p.Asp2313Glu)
c.6921C>G (p.Asp2307Glu)
c.6918C>G (p.Asp2306Glu)
c.6903C>G (p.Asp2301Glu)
c.6876C>G (p.Asp2292Glu)
c.6861C>G (p.Asp2287Glu)
c.6882C>G (p.Asp2294Glu)
c.6858C>G (p.Asp2286Glu)
9g.128632264C>TCA467304850SPTAN1c.6936C>T (p.Asp2312=)
c.6963C>T (p.Asp2321=)
c.6987C>T (p.Asp2329=)
c.6426C>T (p.Asp2142=)
c.4505C>T
c.2842C>T
c.6900C>T (p.Asp2300=)
n.624C>T
c.6825C>T (p.Asp2275=)
c.6885C>T (p.Asp2295=)
n.854C>T
n.657C>T
c.6840C>T (p.Asp2280=)
c.6999C>T (p.Asp2333=)
c.6984C>T (p.Asp2328=)
c.6939C>T (p.Asp2313=)
c.6921C>T (p.Asp2307=)
c.6918C>T (p.Asp2306=)
c.6903C>T (p.Asp2301=)
c.6876C>T (p.Asp2292=)
c.6861C>T (p.Asp2287=)
c.6882C>T (p.Asp2294=)
c.6858C>T (p.Asp2286=)
9g.128632265C>ACA375098569SPTAN1c.6937C>A (p.Gln2313Lys)
c.6964C>A (p.Gln2322Lys)
c.6988C>A (p.Gln2330Lys)
c.6427C>A (p.Gln2143Lys)
c.4506C>A
c.2843C>A
c.6901C>A (p.Gln2301Lys)
n.625C>A
c.6826C>A (p.Gln2276Lys)
c.6886C>A (p.Gln2296Lys)
n.855C>A
n.658C>A
c.6841C>A (p.Gln2281Lys)
c.7000C>A (p.Gln2334Lys)
c.6985C>A (p.Gln2329Lys)
c.6940C>A (p.Gln2314Lys)
c.6922C>A (p.Gln2308Lys)
c.6919C>A (p.Gln2307Lys)
c.6904C>A (p.Gln2302Lys)
c.6877C>A (p.Gln2293Lys)
c.6862C>A (p.Gln2288Lys)
c.6883C>A (p.Gln2295Lys)
c.6859C>A (p.Gln2287Lys)
9g.128632265C>GCA375098573SPTAN1c.6937C>G (p.Gln2313Glu)
c.6964C>G (p.Gln2322Glu)
c.6988C>G (p.Gln2330Glu)
c.6427C>G (p.Gln2143Glu)
c.4506C>G
c.2843C>G
c.6901C>G (p.Gln2301Glu)
n.625C>G
c.6826C>G (p.Gln2276Glu)
c.6886C>G (p.Gln2296Glu)
n.855C>G
n.658C>G
c.6841C>G (p.Gln2281Glu)
c.7000C>G (p.Gln2334Glu)
c.6985C>G (p.Gln2329Glu)
c.6940C>G (p.Gln2314Glu)
c.6922C>G (p.Gln2308Glu)
c.6919C>G (p.Gln2307Glu)
c.6904C>G (p.Gln2302Glu)
c.6877C>G (p.Gln2293Glu)
c.6862C>G (p.Gln2288Glu)
c.6883C>G (p.Gln2295Glu)
c.6859C>G (p.Gln2287Glu)
9g.128632265C>TCA375098581SPTAN1c.6937C>T (p.Gln2313Ter)
c.6964C>T (p.Gln2322Ter)
c.6988C>T (p.Gln2330Ter)
c.6427C>T (p.Gln2143Ter)
c.4506C>T
c.2843C>T
c.6901C>T (p.Gln2301Ter)
n.625C>T
c.6826C>T (p.Gln2276Ter)
c.6886C>T (p.Gln2296Ter)
n.855C>T
n.658C>T
c.6841C>T (p.Gln2281Ter)
c.7000C>T (p.Gln2334Ter)
c.6985C>T (p.Gln2329Ter)
c.6940C>T (p.Gln2314Ter)
c.6922C>T (p.Gln2308Ter)
c.6919C>T (p.Gln2307Ter)
c.6904C>T (p.Gln2302Ter)
c.6877C>T (p.Gln2293Ter)
c.6862C>T (p.Gln2288Ter)
c.6883C>T (p.Gln2295Ter)
c.6859C>T (p.Gln2287Ter)
9g.128632269_128632310dupCA2573143910SPTAN1c.6941_6982dup (p.Gln2327_Gln2328insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln)
c.6968_7009dup (p.Gln2336_Gln2337insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln)
c.6992_7033dup (p.Gln2344_Gln2345insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln)
c.6431_6472dup (p.Gln2157_Gln2158insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln)
c.4510_4551dup
c.2847_2888dup
c.6905_6946dup (p.Gln2315_Gln2316insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln)
n.629_670dup
c.6830_6871dup (p.Gln2290_Gln2291insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln)
c.6890_6931dup (p.Gln2310_Gln2311insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln)
n.859_900dup
n.662_703dup
c.6845_6886dup (p.Gln2295_Gln2296insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln)
c.7004_7045dup (p.Gln2348_Gln2349insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln)
c.6989_7030dup (p.Gln2343_Gln2344insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln)
c.6944_6985dup (p.Gln2328_Gln2329insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln)
c.6926_6967dup (p.Gln2322_Gln2323insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln)
c.6923_6964dup (p.Gln2321_Gln2322insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln)
c.6908_6949dup (p.Gln2316_Gln2317insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln)
c.6881_6922dup (p.Gln2307_Gln2308insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln)
c.6866_6907dup (p.Gln2302_Gln2303insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln)
c.6887_6928dup (p.Gln2309_Gln2310insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln)
c.6863_6904dup (p.Gln2301_Gln2302insLeuAspGlnLeuGlyMetArgMetGlnHisAsnLeuGluGln)
 ClinVar dbSNP
9g.128632266A=CA1880371263SPTAN1c.6938A= (p.Gln2313=)
c.6965A= (p.Gln2322=)
c.6989A= (p.Gln2330=)
c.6428A= (p.Gln2143=)
c.4507A=
c.2844A=
c.6902A= (p.Gln2301=)
n.626A=
c.6827A= (p.Gln2276=)
c.6887A= (p.Gln2296=)
n.856A=
n.659A=
c.6842A= (p.Gln2281=)
c.7001A= (p.Gln2334=)
c.6986A= (p.Gln2329=)
c.6941A= (p.Gln2314=)
c.6923A= (p.Gln2308=)
c.6920A= (p.Gln2307=)
c.6905A= (p.Gln2302=)
c.6878A= (p.Gln2293=)
c.6863A= (p.Gln2288=)
c.6884A= (p.Gln2295=)
c.6860A= (p.Gln2287=)
9g.128632266A>CCA375098585SPTAN1c.6938A>C (p.Gln2313Pro)
c.6965A>C (p.Gln2322Pro)
c.6989A>C (p.Gln2330Pro)
c.6428A>C (p.Gln2143Pro)
c.4507A>C
c.2844A>C
c.6902A>C (p.Gln2301Pro)
n.626A>C
c.6827A>C (p.Gln2276Pro)
c.6887A>C (p.Gln2296Pro)
n.856A>C
n.659A>C
c.6842A>C (p.Gln2281Pro)
c.7001A>C (p.Gln2334Pro)
c.6986A>C (p.Gln2329Pro)
c.6941A>C (p.Gln2314Pro)
c.6923A>C (p.Gln2308Pro)
c.6920A>C (p.Gln2307Pro)
c.6905A>C (p.Gln2302Pro)
c.6878A>C (p.Gln2293Pro)
c.6863A>C (p.Gln2288Pro)
c.6884A>C (p.Gln2295Pro)
c.6860A>C (p.Gln2287Pro)
9g.128632266A>GCA375098589SPTAN1c.6938A>G (p.Gln2313Arg)
c.6965A>G (p.Gln2322Arg)
c.6989A>G (p.Gln2330Arg)
c.6428A>G (p.Gln2143Arg)
c.4507A>G
c.2844A>G
c.6902A>G (p.Gln2301Arg)
n.626A>G
c.6827A>G (p.Gln2276Arg)
c.6887A>G (p.Gln2296Arg)
n.856A>G
n.659A>G
c.6842A>G (p.Gln2281Arg)
c.7001A>G (p.Gln2334Arg)
c.6986A>G (p.Gln2329Arg)
c.6941A>G (p.Gln2314Arg)
c.6923A>G (p.Gln2308Arg)
c.6920A>G (p.Gln2307Arg)
c.6905A>G (p.Gln2302Arg)
c.6878A>G (p.Gln2293Arg)
c.6863A>G (p.Gln2288Arg)
c.6884A>G (p.Gln2295Arg)
c.6860A>G (p.Gln2287Arg)
9g.128632266A>TCA375098602SPTAN1c.6938A>T (p.Gln2313Leu)
c.6965A>T (p.Gln2322Leu)
c.6989A>T (p.Gln2330Leu)
c.6428A>T (p.Gln2143Leu)
c.4507A>T
c.2844A>T
c.6902A>T (p.Gln2301Leu)
n.626A>T
c.6827A>T (p.Gln2276Leu)
c.6887A>T (p.Gln2296Leu)
n.856A>T
n.659A>T
c.6842A>T (p.Gln2281Leu)
c.7001A>T (p.Gln2334Leu)
c.6986A>T (p.Gln2329Leu)
c.6941A>T (p.Gln2314Leu)
c.6923A>T (p.Gln2308Leu)
c.6920A>T (p.Gln2307Leu)
c.6905A>T (p.Gln2302Leu)
c.6878A>T (p.Gln2293Leu)
c.6863A>T (p.Gln2288Leu)
c.6884A>T (p.Gln2295Leu)
c.6860A>T (p.Gln2287Leu)
 ClinVar dbSNP
9g.128632267G>ACA5265927SPTAN1c.6939G>A (p.Gln2313=)
c.6966G>A (p.Gln2322=)
c.6990G>A (p.Gln2330=)
c.6429G>A (p.Gln2143=)
c.4508G>A
c.2845G>A
c.6903G>A (p.Gln2301=)
n.627G>A
c.6828G>A (p.Gln2276=)
c.6888G>A (p.Gln2296=)
n.857G>A
n.660G>A
c.6843G>A (p.Gln2281=)
c.7002G>A (p.Gln2334=)
c.6987G>A (p.Gln2329=)
c.6942G>A (p.Gln2314=)
c.6924G>A (p.Gln2308=)
c.6921G>A (p.Gln2307=)
c.6906G>A (p.Gln2302=)
c.6879G>A (p.Gln2293=)
c.6864G>A (p.Gln2288=)
c.6885G>A (p.Gln2295=)
c.6861G>A (p.Gln2287=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.128632267G>CCA375098615SPTAN1c.6939G>C (p.Gln2313His)
c.6966G>C (p.Gln2322His)
c.6990G>C (p.Gln2330His)
c.6429G>C (p.Gln2143His)
c.4508G>C
c.2845G>C
c.6903G>C (p.Gln2301His)
n.627G>C
c.6828G>C (p.Gln2276His)
c.6888G>C (p.Gln2296His)
n.857G>C
n.660G>C
c.6843G>C (p.Gln2281His)
c.7002G>C (p.Gln2334His)
c.6987G>C (p.Gln2329His)
c.6942G>C (p.Gln2314His)
c.6924G>C (p.Gln2308His)
c.6921G>C (p.Gln2307His)
c.6906G>C (p.Gln2302His)
c.6879G>C (p.Gln2293His)
c.6864G>C (p.Gln2288His)
c.6885G>C (p.Gln2295His)
c.6861G>C (p.Gln2287His)
9g.128632267G=CA1880371264SPTAN1c.6939G= (p.Gln2313=)
c.6966G= (p.Gln2322=)
c.6990G= (p.Gln2330=)
c.6429G= (p.Gln2143=)
c.4508G=
c.2845G=
c.6903G= (p.Gln2301=)
n.627G=
c.6828G= (p.Gln2276=)
c.6888G= (p.Gln2296=)
n.857G=
n.660G=
c.6843G= (p.Gln2281=)
c.7002G= (p.Gln2334=)
c.6987G= (p.Gln2329=)
c.6942G= (p.Gln2314=)
c.6924G= (p.Gln2308=)
c.6921G= (p.Gln2307=)
c.6906G= (p.Gln2302=)
c.6879G= (p.Gln2293=)
c.6864G= (p.Gln2288=)
c.6885G= (p.Gln2295=)
c.6861G= (p.Gln2287=)
9g.128632267G>TCA375098626SPTAN1c.6939G>T (p.Gln2313His)
c.6966G>T (p.Gln2322His)
c.6990G>T (p.Gln2330His)
c.6429G>T (p.Gln2143His)
c.4508G>T
c.2845G>T
c.6903G>T (p.Gln2301His)
n.627G>T
c.6828G>T (p.Gln2276His)
c.6888G>T (p.Gln2296His)
n.857G>T
n.660G>T
c.6843G>T (p.Gln2281His)
c.7002G>T (p.Gln2334His)
c.6987G>T (p.Gln2329His)
c.6942G>T (p.Gln2314His)
c.6924G>T (p.Gln2308His)
c.6921G>T (p.Gln2307His)
c.6906G>T (p.Gln2302His)
c.6879G>T (p.Gln2293His)
c.6864G>T (p.Gln2288His)
c.6885G>T (p.Gln2295His)
c.6861G>T (p.Gln2287His)
9g.128632268C>ACA375098636SPTAN1c.6940C>A (p.Leu2314Met)
c.6967C>A (p.Leu2323Met)
c.6991C>A (p.Leu2331Met)
c.6430C>A (p.Leu2144Met)
c.4509C>A
c.2846C>A
c.6904C>A (p.Leu2302Met)
n.628C>A
c.6829C>A (p.Leu2277Met)
c.6889C>A (p.Leu2297Met)
n.858C>A
n.661C>A
c.6844C>A (p.Leu2282Met)
c.7003C>A (p.Leu2335Met)
c.6988C>A (p.Leu2330Met)
c.6943C>A (p.Leu2315Met)
c.6925C>A (p.Leu2309Met)
c.6922C>A (p.Leu2308Met)
c.6907C>A (p.Leu2303Met)
c.6880C>A (p.Leu2294Met)
c.6865C>A (p.Leu2289Met)
c.6886C>A (p.Leu2296Met)
c.6862C>A (p.Leu2288Met)
9g.128632268C=CA1880371265SPTAN1c.6940C= (p.Leu2314=)
c.6967C= (p.Leu2323=)
c.6991C= (p.Leu2331=)
c.6430C= (p.Leu2144=)
c.4509C=
c.2846C=
c.6904C= (p.Leu2302=)
n.628C=
c.6829C= (p.Leu2277=)
c.6889C= (p.Leu2297=)
n.858C=
n.661C=
c.6844C= (p.Leu2282=)
c.7003C= (p.Leu2335=)
c.6988C= (p.Leu2330=)
c.6943C= (p.Leu2315=)
c.6925C= (p.Leu2309=)
c.6922C= (p.Leu2308=)
c.6907C= (p.Leu2303=)
c.6880C= (p.Leu2294=)
c.6865C= (p.Leu2289=)
c.6886C= (p.Leu2296=)
c.6862C= (p.Leu2288=)
9g.128632268C>GCA375098638SPTAN1c.6940C>G (p.Leu2314Val)
c.6967C>G (p.Leu2323Val)
c.6991C>G (p.Leu2331Val)
c.6430C>G (p.Leu2144Val)
c.4509C>G
c.2846C>G
c.6904C>G (p.Leu2302Val)
n.628C>G
c.6829C>G (p.Leu2277Val)
c.6889C>G (p.Leu2297Val)
n.858C>G
n.661C>G
c.6844C>G (p.Leu2282Val)
c.7003C>G (p.Leu2335Val)
c.6988C>G (p.Leu2330Val)
c.6943C>G (p.Leu2315Val)
c.6925C>G (p.Leu2309Val)
c.6922C>G (p.Leu2308Val)
c.6907C>G (p.Leu2303Val)
c.6880C>G (p.Leu2294Val)
c.6865C>G (p.Leu2289Val)
c.6886C>G (p.Leu2296Val)
c.6862C>G (p.Leu2288Val)
9g.128632268C>TCA467304851SPTAN1c.6940C>T (p.Leu2314=)
c.6967C>T (p.Leu2323=)
c.6991C>T (p.Leu2331=)
c.6430C>T (p.Leu2144=)
c.4509C>T
c.2846C>T
c.6904C>T (p.Leu2302=)
n.628C>T
c.6829C>T (p.Leu2277=)
c.6889C>T (p.Leu2297=)
n.858C>T
n.661C>T
c.6844C>T (p.Leu2282=)
c.7003C>T (p.Leu2335=)
c.6988C>T (p.Leu2330=)
c.6943C>T (p.Leu2315=)
c.6925C>T (p.Leu2309=)
c.6922C>T (p.Leu2308=)
c.6907C>T (p.Leu2303=)
c.6880C>T (p.Leu2294=)
c.6865C>T (p.Leu2289=)
c.6886C>T (p.Leu2296=)
c.6862C>T (p.Leu2288=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.128632269T>ACA375098655SPTAN1c.6941T>A (p.Leu2314Gln)
c.6968T>A (p.Leu2323Gln)
c.6992T>A (p.Leu2331Gln)
c.6431T>A (p.Leu2144Gln)
c.4510T>A
c.2847T>A
c.6905T>A (p.Leu2302Gln)
n.629T>A
c.6830T>A (p.Leu2277Gln)
c.6890T>A (p.Leu2297Gln)
n.859T>A
n.662T>A
c.6845T>A (p.Leu2282Gln)
c.7004T>A (p.Leu2335Gln)
c.6989T>A (p.Leu2330Gln)
c.6944T>A (p.Leu2315Gln)
c.6926T>A (p.Leu2309Gln)
c.6923T>A (p.Leu2308Gln)
c.6908T>A (p.Leu2303Gln)
c.6881T>A (p.Leu2294Gln)
c.6866T>A (p.Leu2289Gln)
c.6887T>A (p.Leu2296Gln)
c.6863T>A (p.Leu2288Gln)
9g.128632269T>CCA375098640SPTAN1c.6941T>C (p.Leu2314Pro)
c.6968T>C (p.Leu2323Pro)
c.6992T>C (p.Leu2331Pro)
c.6431T>C (p.Leu2144Pro)
c.4510T>C
c.2847T>C
c.6905T>C (p.Leu2302Pro)
n.629T>C
c.6830T>C (p.Leu2277Pro)
c.6890T>C (p.Leu2297Pro)
n.859T>C
n.662T>C
c.6845T>C (p.Leu2282Pro)
c.7004T>C (p.Leu2335Pro)
c.6989T>C (p.Leu2330Pro)
c.6944T>C (p.Leu2315Pro)
c.6926T>C (p.Leu2309Pro)
c.6923T>C (p.Leu2308Pro)
c.6908T>C (p.Leu2303Pro)
c.6881T>C (p.Leu2294Pro)
c.6866T>C (p.Leu2289Pro)
c.6887T>C (p.Leu2296Pro)
c.6863T>C (p.Leu2288Pro)
9g.128632269T>GCA375098652SPTAN1c.6941T>G (p.Leu2314Arg)
c.6968T>G (p.Leu2323Arg)
c.6992T>G (p.Leu2331Arg)
c.6431T>G (p.Leu2144Arg)
c.4510T>G
c.2847T>G
c.6905T>G (p.Leu2302Arg)
n.629T>G
c.6830T>G (p.Leu2277Arg)
c.6890T>G (p.Leu2297Arg)
n.859T>G
n.662T>G
c.6845T>G (p.Leu2282Arg)
c.7004T>G (p.Leu2335Arg)
c.6989T>G (p.Leu2330Arg)
c.6944T>G (p.Leu2315Arg)
c.6926T>G (p.Leu2309Arg)
c.6923T>G (p.Leu2308Arg)
c.6908T>G (p.Leu2303Arg)
c.6881T>G (p.Leu2294Arg)
c.6866T>G (p.Leu2289Arg)
c.6887T>G (p.Leu2296Arg)
c.6863T>G (p.Leu2288Arg)
9g.128632270G>ACA467304852SPTAN1c.6942G>A (p.Leu2314=)
c.6969G>A (p.Leu2323=)
c.6993G>A (p.Leu2331=)
c.6432G>A (p.Leu2144=)
c.4511G>A
c.2848G>A
c.6906G>A (p.Leu2302=)
n.630G>A
c.6831G>A (p.Leu2277=)
c.6891G>A (p.Leu2297=)
n.860G>A
n.663G>A
c.6846G>A (p.Leu2282=)
c.7005G>A (p.Leu2335=)
c.6990G>A (p.Leu2330=)
c.6945G>A (p.Leu2315=)
c.6927G>A (p.Leu2309=)
c.6924G>A (p.Leu2308=)
c.6909G>A (p.Leu2303=)
c.6882G>A (p.Leu2294=)
c.6867G>A (p.Leu2289=)
c.6888G>A (p.Leu2296=)
c.6864G>A (p.Leu2288=)
 gnomAD v4
9g.128632270G>CCA467304853SPTAN1c.6942G>C (p.Leu2314=)
c.6969G>C (p.Leu2323=)
c.6993G>C (p.Leu2331=)
c.6432G>C (p.Leu2144=)
c.4511G>C
c.2848G>C
c.6906G>C (p.Leu2302=)
n.630G>C
c.6831G>C (p.Leu2277=)
c.6891G>C (p.Leu2297=)
n.860G>C
n.663G>C
c.6846G>C (p.Leu2282=)
c.7005G>C (p.Leu2335=)
c.6990G>C (p.Leu2330=)
c.6945G>C (p.Leu2315=)
c.6927G>C (p.Leu2309=)
c.6924G>C (p.Leu2308=)
c.6909G>C (p.Leu2303=)
c.6882G>C (p.Leu2294=)
c.6867G>C (p.Leu2289=)
c.6888G>C (p.Leu2296=)
c.6864G>C (p.Leu2288=)
9g.128632270G>TCA467304854SPTAN1c.6942G>T (p.Leu2314=)
c.6969G>T (p.Leu2323=)
c.6993G>T (p.Leu2331=)
c.6432G>T (p.Leu2144=)
c.4511G>T
c.2848G>T
c.6906G>T (p.Leu2302=)
n.630G>T
c.6831G>T (p.Leu2277=)
c.6891G>T (p.Leu2297=)
n.860G>T
n.663G>T
c.6846G>T (p.Leu2282=)
c.7005G>T (p.Leu2335=)
c.6990G>T (p.Leu2330=)
c.6945G>T (p.Leu2315=)
c.6927G>T (p.Leu2309=)
c.6924G>T (p.Leu2308=)
c.6909G>T (p.Leu2303=)
c.6882G>T (p.Leu2294=)
c.6867G>T (p.Leu2289=)
c.6888G>T (p.Leu2296=)
c.6864G>T (p.Leu2288=)
9g.128632271G>ACA375098674SPTAN1c.6943G>A (p.Asp2315Asn)
c.6970G>A (p.Asp2324Asn)
c.6994G>A (p.Asp2332Asn)
c.6433G>A (p.Asp2145Asn)
c.4512G>A
c.2849G>A
c.6907G>A (p.Asp2303Asn)
n.631G>A
c.6832G>A (p.Asp2278Asn)
c.6892G>A (p.Asp2298Asn)
n.861G>A
n.664G>A
c.6847G>A (p.Asp2283Asn)
c.7006G>A (p.Asp2336Asn)
c.6991G>A (p.Asp2331Asn)
c.6946G>A (p.Asp2316Asn)
c.6928G>A (p.Asp2310Asn)
c.6925G>A (p.Asp2309Asn)
c.6910G>A (p.Asp2304Asn)
c.6883G>A (p.Asp2295Asn)
c.6868G>A (p.Asp2290Asn)
c.6889G>A (p.Asp2297Asn)
c.6865G>A (p.Asp2289Asn)
9g.128632271G>CCA375098683SPTAN1c.6943G>C (p.Asp2315His)
c.6970G>C (p.Asp2324His)
c.6994G>C (p.Asp2332His)
c.6433G>C (p.Asp2145His)
c.4512G>C
c.2849G>C
c.6907G>C (p.Asp2303His)
n.631G>C
c.6832G>C (p.Asp2278His)
c.6892G>C (p.Asp2298His)
n.861G>C
n.664G>C
c.6847G>C (p.Asp2283His)
c.7006G>C (p.Asp2336His)
c.6991G>C (p.Asp2331His)
c.6946G>C (p.Asp2316His)
c.6928G>C (p.Asp2310His)
c.6925G>C (p.Asp2309His)
c.6910G>C (p.Asp2304His)
c.6883G>C (p.Asp2295His)
c.6868G>C (p.Asp2290His)
c.6889G>C (p.Asp2297His)
c.6865G>C (p.Asp2289His)
9g.128632271G>TCA375098685SPTAN1c.6943G>T (p.Asp2315Tyr)
c.6970G>T (p.Asp2324Tyr)
c.6994G>T (p.Asp2332Tyr)
c.6433G>T (p.Asp2145Tyr)
c.4512G>T
c.2849G>T
c.6907G>T (p.Asp2303Tyr)
n.631G>T
c.6832G>T (p.Asp2278Tyr)
c.6892G>T (p.Asp2298Tyr)
n.861G>T
n.664G>T
c.6847G>T (p.Asp2283Tyr)
c.7006G>T (p.Asp2336Tyr)
c.6991G>T (p.Asp2331Tyr)
c.6946G>T (p.Asp2316Tyr)
c.6928G>T (p.Asp2310Tyr)
c.6925G>T (p.Asp2309Tyr)
c.6910G>T (p.Asp2304Tyr)
c.6883G>T (p.Asp2295Tyr)
c.6868G>T (p.Asp2290Tyr)
c.6889G>T (p.Asp2297Tyr)
c.6865G>T (p.Asp2289Tyr)
9g.128632272A=CA1880371266SPTAN1c.6944A= (p.Asp2315=)
c.6971A= (p.Asp2324=)
c.6995A= (p.Asp2332=)
c.6434A= (p.Asp2145=)
c.4513A=
c.2850A=
c.6908A= (p.Asp2303=)
n.632A=
c.6833A= (p.Asp2278=)
c.6893A= (p.Asp2298=)
n.862A=
n.665A=
c.6848A= (p.Asp2283=)
c.7007A= (p.Asp2336=)
c.6992A= (p.Asp2331=)
c.6947A= (p.Asp2316=)
c.6929A= (p.Asp2310=)
c.6926A= (p.Asp2309=)
c.6911A= (p.Asp2304=)
c.6884A= (p.Asp2295=)
c.6869A= (p.Asp2290=)
c.6890A= (p.Asp2297=)
c.6866A= (p.Asp2289=)
9g.128632272A>CCA375098688SPTAN1c.6944A>C (p.Asp2315Ala)
c.6971A>C (p.Asp2324Ala)
c.6995A>C (p.Asp2332Ala)
c.6434A>C (p.Asp2145Ala)
c.4513A>C
c.2850A>C
c.6908A>C (p.Asp2303Ala)
n.632A>C
c.6833A>C (p.Asp2278Ala)
c.6893A>C (p.Asp2298Ala)
n.862A>C
n.665A>C
c.6848A>C (p.Asp2283Ala)
c.7007A>C (p.Asp2336Ala)
c.6992A>C (p.Asp2331Ala)
c.6947A>C (p.Asp2316Ala)
c.6929A>C (p.Asp2310Ala)
c.6926A>C (p.Asp2309Ala)
c.6911A>C (p.Asp2304Ala)
c.6884A>C (p.Asp2295Ala)
c.6869A>C (p.Asp2290Ala)
c.6890A>C (p.Asp2297Ala)
c.6866A>C (p.Asp2289Ala)
9g.128632272A>GCA375098691SPTAN1c.6944A>G (p.Asp2315Gly)
c.6971A>G (p.Asp2324Gly)
c.6995A>G (p.Asp2332Gly)
c.6434A>G (p.Asp2145Gly)
c.4513A>G
c.2850A>G
c.6908A>G (p.Asp2303Gly)
n.632A>G
c.6833A>G (p.Asp2278Gly)
c.6893A>G (p.Asp2298Gly)
n.862A>G
n.665A>G
c.6848A>G (p.Asp2283Gly)
c.7007A>G (p.Asp2336Gly)
c.6992A>G (p.Asp2331Gly)
c.6947A>G (p.Asp2316Gly)
c.6929A>G (p.Asp2310Gly)
c.6926A>G (p.Asp2309Gly)
c.6911A>G (p.Asp2304Gly)
c.6884A>G (p.Asp2295Gly)
c.6869A>G (p.Asp2290Gly)
c.6890A>G (p.Asp2297Gly)
c.6866A>G (p.Asp2289Gly)
9g.128632272A>TCA375098695SPTAN1c.6944A>T (p.Asp2315Val)
c.6971A>T (p.Asp2324Val)
c.6995A>T (p.Asp2332Val)
c.6434A>T (p.Asp2145Val)
c.4513A>T
c.2850A>T
c.6908A>T (p.Asp2303Val)
n.632A>T
c.6833A>T (p.Asp2278Val)
c.6893A>T (p.Asp2298Val)
n.862A>T
n.665A>T
c.6848A>T (p.Asp2283Val)
c.7007A>T (p.Asp2336Val)
c.6992A>T (p.Asp2331Val)
c.6947A>T (p.Asp2316Val)
c.6929A>T (p.Asp2310Val)
c.6926A>T (p.Asp2309Val)
c.6911A>T (p.Asp2304Val)
c.6884A>T (p.Asp2295Val)
c.6869A>T (p.Asp2290Val)
c.6890A>T (p.Asp2297Val)
c.6866A>T (p.Asp2289Val)

Number of alleles fetched